WorldWideScience

Sample records for genetic risk assessment

  1. [Risk assessment of genetically modified organisms].

    Science.gov (United States)

    Costa, Thadeu Estevam Moreira Maramaldo; Dias, Aline Peçanha Muzy; Scheidegger, Erica Miranda Damasio; Marin, Victor Augustus

    2011-01-01

    Since the commercial approve in 1996, the global area of transgenic crops has raised more than 50 times. In the last two decades, governments have been planning strategies and protocols for safety assessment of food and feed genetically modified (GM). Evaluation of food safety should be taken on a case-by-case analysis depending on the specific traits of the modified crops and the changes introduced by the genetic modification, using for this the concept of substantial equivalence. This work presents approaches for the risk assessment of GM food, as well as some problems related with the genetic construction or even with the expression of the inserted gene.

  2. Risk Assessment of Genetically Modified Microorganisms

    DEFF Research Database (Denmark)

    Jacobsen, B. L.; Wilcks, Andrea

    2001-01-01

    the industry, national administration and research institutions were gathered to discuss which elements should be considered in a risk assessment of genetically modified microorganisms used as food or food ingredients. The existing EU and national regulations were presented, together with the experiences......The rapid development of recombinant DNA techniques for food organisms urges for an ongoing discussion on the risk assessment of both new as traditional use of microorganisms in food production. This report, supported by the Nordic Council of Ministers, is the result of a workshop where people from...

  3. Risk assessment of Genetically Modified Organisms (GMOs

    Directory of Open Access Journals (Sweden)

    Waigmann E

    2012-10-01

    Full Text Available

    EFSA’s remit in the risk assessment of GMOs is very broad encompassing genetically modified plants, microorganisms and animals and assessing their safety for humans, animals and the environment. The legal frame for GMOs is set by Directive 2001/18/EC on their release into the environment, and Regulation (EC No 1829/2003 on GM food and feed. The main focus of EFSA’s GMO Panel and GMO Unit lies in the evaluation of the scientific risk assessment of new applications for market authorisation of GMOs, and in the development of corresponding guidelines for the applicants. The EFSA GMO Panel has elaborated comprehensive guidance documents on GM plants, GM microorganisms and GM animals, as well as on specific aspects of risk assessment such as the selection of comparators. EFSA also provides special scientific advice upon request of the European Commission; examples are post-market environmental monitoring of GMOs, and consideration of potential risks of new plant breeding techniques. The GMO Panel regularly reviews its guidance documents in the light of experience gained with the evaluation of applications, technological progress in breeding technologies and scientific developments in the diverse areas of risk assessment.

  4. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women

    Science.gov (United States)

    ... Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-related Cancer in Women The U.S. Preventive Services ... Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-related Cancer in Women. This final recommendation statement ...

  5. Genetic profiling and individualized assessment of fracture risk.

    Science.gov (United States)

    Nguyen, Tuan V; Eisman, John A

    2013-03-01

    Osteoporosis and its consequence of fragility fracture impose a considerable demand on health-care services because fracture is associated with a series of adverse events, including re-fracture and mortality. One of the major priorities in osteoporosis care is the development of predictive models to identify individuals at high risk of fracture for early intervention and management. Existing predictive models include clinical factors and anthropometric characteristics but have not considered genetic variants in the prediction. Genome-wide association studies conducted in the past decade have identified several genetic variants relevant to fracture risk. These genetic variants are common in frequency but have very modest effect sizes. A remaining challenge is to use these genetic data to individualize fracture risk assessment on the basis of an individual's genetic risk profile. Empirical and simulation studies have shown that the usefulness of a single genetic variant for fracture risk assessment is very limited, but a profile of 50 genetic variants, each with odds ratio ranging from 1.02 to 1.15, could improve the accuracy of fracture prediction beyond that obtained by use of existing clinical risk factors. Thus, genetic profiling when integrated with existing risk assessment models could inform a more accurate prediction of fracture risk in an individual.

  6. Ecological Risk Assessment of Genetically Modified Higher Plants (GMHP)

    DEFF Research Database (Denmark)

    Kjær, C.; Damgaard, C.; Kjellsson, G.

    of the project Biotechnology: elements in environmental risk assessment of genetically modified plants. December 1999 Christian Kjær Introduction In ecological risk assessment of transgenic plants, information on a wide range of subjects is needed for an effective and reliable assessment procedure...... the actual risk assessment procedures and the risk evaluation, which must proceed the data collection. The report use the terminology ecological risk assessment rather than environmental risk assessment because at present this work does not include bio-geochemical effects and environmental impacts from...... for uncertainties in the extrapolation from limited laboratory studies to the species rich field environment. The relationship between the size of the safety factor and the number of species is therefore an issue of the risk assessment. Some of the issues raised in this report overlap with data needs...

  7. Ecological Risk Assessment of Genetically Modified Higher Plants (GMHP)

    DEFF Research Database (Denmark)

    Kjær, C.; Damgaard, C.; Kjellsson, G.

    Preface This publication is a first version of a manual identifying the data needs for ecological risk assessment of genetically modified higher plants (GMHP). It is the intention of the authors to stimulate further discussion of what data are needed in order to conduct a proper ecological risk...... assessment of GM plants when application for placing on the market is made. It is our hope that both the scientific community, the biotechnological industry and the regulatory bodies will participate in the process of improving the present draft, so that it can develop into a useful tool for both...... the industry as well as the national regulatory bodies. Furthermore, we hope that these efforts will improve the transparency of risk assessment and harmonisation of the requirements for data. The report suggests a structured way to identify the data need for risk assessment of GMHPs. It does not discuss...

  8. The Effect of Genetic Risk Information and Health Risk Assessment on Compliance with Preventive Behaviors.

    Science.gov (United States)

    Bamberg, Richard; And Others

    1990-01-01

    Results from a study of 82 males provide no statistical support and limited encouragement that genetic risk information may motivate persons to make positive changes in preventive health behaviors. Health risk assessments were used to identify subjects at risk for coronary heart disease or lung cancer because of genetic factors. (IAH)

  9. Guidance on the environmental risk assessment of genetically modified plants

    DEFF Research Database (Denmark)

    Bartsch, Detlef; Chueca, Cristina; De-Schrijver, Adinda

    . This document describes the six steps for the ERA of GM plants, as indicated in Directive 2001/18/EC, starting with (1) problem formulation including hazard identification; (2) hazard characterisation; (3) exposure characterisation; (4) risk characterisation; (5) risk management strategies; and (6) an overall...... assessment; (5) impact of the specific cultivation, management and harvesting techniques; including consideration of the production systems and the receiving environment(s); (6) effects on biogeochemical processes; and (7) effects on human and animal health. Each specific area of concern is considered......This document provides guidance for the environmental risk assessment (ERA) of genetically modified (GM) plants submitted within the framework of Regulation (EC) No. 1829/2003 on GM food and feed or under Directive 2001/18/EC on the deliberate release into the environment of genetically modified...

  10. Environmental risk assessment for medicinal products containing genetically modified organisms.

    Science.gov (United States)

    Anliker, B; Longhurst, S; Buchholz, C J

    2010-01-01

    Many gene therapy medicinal products and also some vaccines consist of, or contain, genetically modified organisms (GMOs), which require specific consideration in the environmental risk assessment (ERA) before marketing authorisation or clinical trial applications. The ERA is performed in order to identify the potential risks for public health and the environment, which may arise due to the clinical use of these medicinal products. If such environmental risks are identified and considered as not acceptable, the ERA should go on to propose appropriate risk management strategies capable to reduce these risks. This article will provide an overview of the legal basis and requirements for the ERA of GMO-containing medicinal products in the context of marketing authorisation in the EU and clinical trials in Germany. Furthermore, the scientific principles and methodology that generally need to be followed when preparing an ERA for GMOs are discussed.

  11. Guidance on the environmental risk assessment of genetically modified animals

    Directory of Open Access Journals (Sweden)

    EFSA Panel on Genetically Modified Organisms (GMO

    2013-05-01

    Full Text Available This document provides guidance for the environmental risk assessment (ERA of living genetically modified (GM animals, namely fish, insects and mammals and birds, to be placed on the European Union (EU market in accordance with Regulation (EC No 1829/2003 or Directive 2001/18/EC. It provides guidance for assessing potential effects of GM animals on animal and human health and the environment and the rationales for data requirements for a comprehensive ERA. The ERA should be carried out on a case-by-case basis, following a step-by-step assessment approach. This document describes the six sequential steps for the ERA of GM animals, as indicated in Directive 2001/18/EC: (1 problem formulation including hazard and exposure identification; (2 hazard characterisation; (3 exposure characterisation; (4 risk characterisation; (5 risk management strategies; and (6 an overall risk evaluation. The Scientific Panel on Genetically Modified Organisms of the European Food Safety Authority follows Annex II of Directive 2001/18/EC, considering specific areas of risk to be addressed by applicants and risk assessors during the ERA of GM fish, GM insects and GM mammals and birds. Each specific area of risk is considered in a structured and systematic way following the aforementioned six steps. In addition, this Guidance Document describes several generic cross-cutting considerations (e.g. choice of comparators, use of non-GM surrogates, experimental design and statistics, long-term effects, uncertainty analysis that need to be accounted for throughout the whole ERA.

  12. Risk assessment of genetically modified crops for nutrition and health.

    Science.gov (United States)

    Magaña-Gómez, Javier A; de la Barca, Ana M Calderón

    2009-01-01

    The risk assessment of genetically modified (GM) crops for human nutrition and health has not been systematic. Evaluations for each GM crop or trait have been conducted using different feeding periods, animal models, and parameters. The most common result is that GM and conventional sources induce similar nutritional performance and growth in animals. However, adverse microscopic and molecular effects of some GM foods in different organs or tissues have been reported. Diversity among the methods and results of the risk assessments reflects the complexity of the subject. While there are currently no standardized methods to evaluate the safety of GM foods, attempts towards harmonization are on the way. More scientific effort is necessary in order to build confidence in the evaluation and acceptance of GM foods.

  13. At risk, or not at risk: Epidemiological approaches for assessing psychiatric (genetic) risk factors in the general population

    NARCIS (Netherlands)

    Breetvelt, E.J.

    2013-01-01

    This thesis “At risk, or not at risk” describes several approaches - cross-sectional, prospective, phenotype mining and forward genetics - for assessing psychiatric (genetic) risk factors in a general population study. The aims were 1) to investigate how routine and follow-up data from populationbas

  14. Disparities in Cancer Genetic Risk Assessment and Testing.

    Science.gov (United States)

    Underhill, Meghan L; Jones, Tarsha; Habin, Karleen

    2016-07-01

    Scientific and technologic advances in genomics have revolutionized genetic counseling and testing, targeted therapy, and cancer screening and prevention. Among younger women, African American and Hispanic women have a higher rate of cancers that are associated with hereditary cancer risk, such as triple-negative breast cancer, which is linked to poorer outcomes. Therefore, genetic testing is particularly important in diverse populations. Unfortunately, all races and ethnic groups are not well represented in current genetic testing practices, leading to disparities in cancer prevention and early detection.

  15. Applying personal genetic data to injury risk assessment in athletes.

    Directory of Open Access Journals (Sweden)

    Gabrielle T Goodlin

    Full Text Available Recent studies have identified genetic markers associated with risk for certain sports-related injuries and performance-related conditions, with the hope that these markers could be used by individual athletes to personalize their training and diet regimens. We found that we could greatly expand the knowledge base of sports genetic information by using published data originally found in health and disease studies. For example, the results from large genome-wide association studies for low bone mineral density in elderly women can be re-purposed for low bone mineral density in young endurance athletes. In total, we found 124 single-nucleotide polymorphisms associated with: anterior cruciate ligament tear, Achilles tendon injury, low bone mineral density and stress fracture, osteoarthritis, vitamin/mineral deficiencies, and sickle cell trait. Of these single nucleotide polymorphisms, 91% have not previously been used in sports genetics. We conducted a pilot program on fourteen triathletes using this expanded knowledge base of genetic variants associated with sports injury. These athletes were genotyped and educated about how their individual genetic make-up affected their personal risk profile during an hour-long personal consultation. Overall, participants were favorable of the program, found it informative, and most acted upon their genetic results. This pilot program shows that recent genetic research provides valuable information to help reduce sports injuries and to optimize nutrition. There are many genetic studies for health and disease that can be mined to provide useful information to athletes about their individual risk for relevant injuries.

  16. Environmental Risk Assessment of Genetically Modified Organisms (GMOs)

    DEFF Research Database (Denmark)

    Strandberg, B.; Kjær, C.; Hindar, K.

    It was the aim of this NordTest project to propose improvements that prepare us to assess ecological risks to the environment associated with releases of existing and coming GMO cases. The report is separated into three sections. The first describes the frames of ecological risk assessment...

  17. Environmental Risk Assessment of Genetically Modified Organisms (GMOs)

    DEFF Research Database (Denmark)

    Strandberg, B.; Kjær, C.; Hindar, K.

    It was the aim of this NordTest project to propose improvements that prepare us to assess ecological risks to the environment associated with releases of existing and coming GMO cases. The report is separated into three sections. The first describes the frames of ecological risk assessment...

  18. Risk assessment: the importance of genetic polymorphisms in man

    DEFF Research Database (Denmark)

    Knudsen, Lisbeth E.; Loft, S H; Autrup, H

    2001-01-01

    and increased cancer risk, such results indicate effect modification regarding cancer risk. In risk assessment the safety 'factor' of 10 is generally accepted to allow for variation in individual susceptibility. Reviewing the literature justifies the factor of 10 when considering single polymorphisms. However...... the application in insurance situations is criticised....

  19. Risk assessment: the importance of genetic polymorphisms in man

    DEFF Research Database (Denmark)

    E. Knudsen, Lisbeth; Loft, Steffen; Autrup, Herman

    2001-01-01

    and increased cancer risk, such results indicate effect modification regarding cancer risk. In risk assessment the safety ‘factor’ of 10 is generally accepted to allow for variation in individual susceptibility. Reviewing the literature justifies the factor of 10 when considering single polymorphisms. However...... the application in insurance situations is criticised....

  20. Applying evolutionary genetics to developmental toxicology and risk assessment.

    Science.gov (United States)

    Leung, Maxwell C K; Procter, Andrew C; Goldstone, Jared V; Foox, Jonathan; DeSalle, Robert; Mattingly, Carolyn J; Siddall, Mark E; Timme-Laragy, Alicia R

    2017-03-04

    Evolutionary thinking continues to challenge our views on health and disease. Yet, there is a communication gap between evolutionary biologists and toxicologists in recognizing the connections among developmental pathways, high-throughput screening, and birth defects in humans. To increase our capability in identifying potential developmental toxicants in humans, we propose to apply evolutionary genetics to improve the experimental design and data interpretation with various in vitro and whole-organism models. We review five molecular systems of stress response and update 18 consensual cell-cell signaling pathways that are the hallmark for early development, organogenesis, and differentiation; and revisit the principles of teratology in light of recent advances in high-throughput screening, big data techniques, and systems toxicology. Multiscale systems modeling plays an integral role in the evolutionary approach to cross-species extrapolation. Phylogenetic analysis and comparative bioinformatics are both valuable tools in identifying and validating the molecular initiating events that account for adverse developmental outcomes in humans. The discordance of susceptibility between test species and humans (ontogeny) reflects their differences in evolutionary history (phylogeny). This synthesis not only can lead to novel applications in developmental toxicity and risk assessment, but also can pave the way for applying an evo-devo perspective to the study of developmental origins of health and disease.

  1. Considerations for Using Genetic and Epigenetic Information in Occupational Health Risk Assessment and Standard Setting.

    Science.gov (United States)

    Schulte, P A; Whittaker, C; Curran, C P

    2015-01-01

    Risk assessment forms the basis for both occupational health decision-making and the development of occupational exposure limits (OELs). Although genetic and epigenetic data have not been widely used in risk assessment and ultimately, standard setting, it is possible to envision such uses. A growing body of literature demonstrates that genetic and epigenetic factors condition biological responses to occupational and environmental hazards or serve as targets of them. This presentation addresses the considerations for using genetic and epigenetic information in risk assessments, provides guidance on using this information within the classic risk assessment paradigm, and describes a framework to organize thinking about such uses. The framework is a 4 × 4 matrix involving the risk assessment functions (hazard identification, dose-response modeling, exposure assessment, and risk characterization) on one axis and inherited and acquired genetic and epigenetic data on the other axis. The cells in the matrix identify how genetic and epigenetic data can be used for each risk assessment function. Generally, genetic and epigenetic data might be used as endpoints in hazard identification, as indicators of exposure, as effect modifiers in exposure assessment and dose-response modeling, as descriptors of mode of action, and to characterize toxicity pathways. Vast amounts of genetic and epigenetic data may be generated by high-throughput technologies. These data can be useful for assessing variability and reducing uncertainty in extrapolations, and they may serve as the foundation upon which identification of biological perturbations would lead to a new paradigm of toxicity pathway-based risk assessments.

  2. What Risk Assessments of Genetically Modified Organisms Can Learn from Institutional Analyses of Public Health Risks

    Directory of Open Access Journals (Sweden)

    S. Ravi Rajan

    2012-01-01

    Full Text Available The risks of genetically modified organisms (GMOs are evaluated traditionally by combining hazard identification and exposure estimates to provide decision support for regulatory agencies. We question the utility of the classical risk paradigm and discuss its evolution in GMO risk assessment. First, we consider the problem of uncertainty, by comparing risk assessment for environmental toxins in the public health domain with genetically modified organisms in the environment; we use the specific comparison of an insecticide to a transgenic, insecticidal food crop. Next, we examine normal accident theory (NAT as a heuristic to consider runaway effects of GMOs, such as negative community level consequences of gene flow from transgenic, insecticidal crops. These examples illustrate how risk assessments are made more complex and contentious by both their inherent uncertainty and the inevitability of failure beyond expectation in complex systems. We emphasize the value of conducting decision-support research, embracing uncertainty, increasing transparency, and building interdisciplinary institutions that can address the complex interactions between ecosystems and society. In particular, we argue against black boxing risk analysis, and for a program to educate policy makers about uncertainty and complexity, so that eventually, decision making is not the burden that falls upon scientists but is assumed by the public at large.

  3. What risk assessments of genetically modified organisms can learn from institutional analyses of public health risks.

    Science.gov (United States)

    Rajan, S Ravi; Letourneau, Deborah K

    2012-01-01

    The risks of genetically modified organisms (GMOs) are evaluated traditionally by combining hazard identification and exposure estimates to provide decision support for regulatory agencies. We question the utility of the classical risk paradigm and discuss its evolution in GMO risk assessment. First, we consider the problem of uncertainty, by comparing risk assessment for environmental toxins in the public health domain with genetically modified organisms in the environment; we use the specific comparison of an insecticide to a transgenic, insecticidal food crop. Next, we examine normal accident theory (NAT) as a heuristic to consider runaway effects of GMOs, such as negative community level consequences of gene flow from transgenic, insecticidal crops. These examples illustrate how risk assessments are made more complex and contentious by both their inherent uncertainty and the inevitability of failure beyond expectation in complex systems. We emphasize the value of conducting decision-support research, embracing uncertainty, increasing transparency, and building interdisciplinary institutions that can address the complex interactions between ecosystems and society. In particular, we argue against black boxing risk analysis, and for a program to educate policy makers about uncertainty and complexity, so that eventually, decision making is not the burden that falls upon scientists but is assumed by the public at large.

  4. Assessing ecological risks and benefits of genetically modified crops

    Directory of Open Access Journals (Sweden)

    Bošković Jelena V.

    2010-01-01

    Full Text Available Genetically modified (GM crops and biotechnology are providing new opportunities for increasing crop productivity and tackling agriculture problems, such as diseases, pests and weeds, abiotic stress and nutritional limitations of staple food crops. As GM crops are being adopted in various locations with different ecosystems, a scientifically based understanding of the environmental effects of cultivations of GM crops would assist decision makers worldwide in ensuring environmental safety and sustainability. In this paper are discussed some of the most important problems related to the GM crops into the environment such as: plant protection, hybridisation, ecological effects of HRCs, gene flow, biodiversity, stress, ecological risks (ERA, effects on the soil ecosystem etc.

  5. Scientific Opinion updating the risk assessment conclusions and risk management recommendations on the genetically modified insect resistant maize MON 810

    Directory of Open Access Journals (Sweden)

    EFSA Panel on Genetically Modified Organisms (GMO

    2012-12-01

    Full Text Available Following a request from the European Commission, the Panel on Genetically Modified Organisms of the European Food Safety Authority (EFSA GMO Panel compiled its previous risk assessment conclusions and risk management recommendations on the genetically modified insect resistant maize MON 810, and considered their validity in the light of new relevant scientific publications published from 2009 onwards. Following a search of the scientific literature published between 2009 and October 2012, the EFSA GMO Panel identified 165 peer-reviewed publications containing evidence specific to the risk assessment and/or management of maize MON 810, of which 68 publications were discussed and/or cited in previous EFSA GMO Panel scientific outputs. From the remaining 97 publications, eight were relevant for the molecular characterisation, 27 for food and feed safety assessment, 55 for the environmental risk assessment and/or risk management, two for the molecular characterisation and the environmental risk assessment and/or risk management and five for the food and feed safety assessment and the environmental risk assessment and/or risk management of maize MON 810. None of these publications reported new information that would invalidate the previous conclusions on the safety of maize MON 810 made by the EFSA GMO Panel. Therefore, the EFSA GMO Panel considers that its previous risk assessment conclusions on maize MON 810, as well as its previous recommendations on risk mitigation measures and monitoring, remain valid and applicable.

  6. Life insurance and breast cancer risk assessment: adverse selection, genetic testing decisions, and discrimination.

    Science.gov (United States)

    Armstrong, Katrina; Weber, Barbara; FitzGerald, Genevieve; Hershey, John C; Pauly, Mark V; Lemaire, Jean; Subramanian, Krupa; Asch, David A

    2003-07-30

    Life insurance industry access to genetic information is controversial. Consumer groups argue that access will increase discrimination in life insurance premiums and discourage individuals from undergoing genetic testing that may provide health benefits. Conversely, life insurers argue that without access to risk information available to individuals, they face substantial financial risk from adverse selection. Given this controversy, we conducted a retrospective cohort study to evaluate the impact of breast cancer risk information on life insurance purchasing, the impact of concerns about life insurance discrimination on use of BRCA1/2 testing, and the incidence of life insurance discrimination following participation in breast cancer risk assessment and BRCA1/2 testing. Study participants were 636 women who participated in genetic counseling and/or genetic testing at a University based clinic offering breast cancer risk assessment, genetic counseling, and BRCA1/2 testing between January 1995 and May 2000. Twenty-seven women (4%) had increased and six (1%) had decreased their life insurance since participation in breast cancer risk assessment. The decision to increase life insurance coverage was associated with predicted breast cancer risk (adjusted OR 1.03 for each 1% absolute increase in risk, 95% CI 1.01-1.10) and being found to carry a mutation in BRCA1/2 (OR 5.10, 95% CI 1.90-13.66). Concern about life insurance discrimination was inversely associated with the decision to undergo BRCA1/2 testing (RR 0.67, 95% CI 0.52-0.85). No respondent reported having life insurance denied or canceled. In this cohort of women, these results indicate that information about increased breast cancer risk is associated with increase in life insurance purchasing, raising the possibility of adverse selection. Although fear of insurance discrimination is associated with the decision not to undergo BRCA1/2 testing, there was no evidence of actual insurance discrimination from BRCA1

  7. Significance of genetic information in risk assessment and individual classification using silicosis as a case model

    Energy Technology Data Exchange (ETDEWEB)

    McCanlies, E.; Landsittel, D.P.; Yucesoy, B.; Vallyathan, V.; Luster, M.L.; Sharp, D.S. [NIOSH, Morgantown, WV (United States)

    2002-06-01

    Over the last decade the role of genetic data in epidemiological research has expanded considerably. The authors recently published a case-control study that evaluated the interaction between silica exposure and minor variants in the genes coding for interleukin-1alpha. (IL-1alpha), interleukin-1 receptor antagonist (IL-1RA) and tumor necrosis factor alpha (TNFalpha) as risk factors associated with silicosis, a fibrotic lung disease. In contrast, this report uses data generated from these studies to illustrate the utility of genetic information for the purposes of risk assessment and clinical prediction. Specifically, this study addresses how, given a known exposure, genetic information affects the characterization of risk groups. Relative operating characteristic (ROC) curves were then used to determine the impact of genetic information on individual classification. Logistic regression modeling procedures were used to estimate the predicted probability of developing silicosis. This probability was then used to construct predicted risk deciles, first for a model with occupational exposure only and then for a model containing occupational exposure and genetic main effects and interactions. The results indicate that genetic information plays a valuable role in effectively characterizing risk groups and mechanisms of disease operating in a substantial proportion of the population. However, in the case of fibrotic lung disease caused by silica exposure, information about the presence or absence of the minor variants of IL-1alpha, IL-1RA and TNFalpha is unlikely to be a useful tool for individual classification.

  8. The assessment of genetic risk of breast cancer : a set of GP guidelines

    NARCIS (Netherlands)

    de Bock, GH; Vlieland, TPMV; Hageman, GCHA; Oosterwijk, JC; Springer, MP; Kievit, J

    Background. Assessing a genetic risk for developing breast cancer is not an easy task for a GP. Current expert guidelines for referring and counselling women with a family history positive for breast cancer are complex and difficult to apply in general practice, and have only two strategies (to

  9. Genetic toxicology at the crossroads-from qualitative hazard evaluation to quantitative risk assessment.

    Science.gov (United States)

    White, Paul A; Johnson, George E

    2016-05-01

    Applied genetic toxicology is undergoing a transition from qualitative hazard identification to quantitative dose-response analysis and risk assessment. To facilitate this change, the Health and Environmental Sciences Institute (HESI) Genetic Toxicology Technical Committee (GTTC) sponsored a workshop held in Lancaster, UK on July 10-11, 2014. The event included invited speakers from several institutions and the contents was divided into three themes-1: Point-of-departure Metrics for Quantitative Dose-Response Analysis in Genetic Toxicology; 2: Measurement and Estimation of Exposures for Better Extrapolation to Humans and 3: The Use of Quantitative Approaches in Genetic Toxicology for human health risk assessment (HHRA). A host of pertinent issues were discussed relating to the use of in vitro and in vivo dose-response data, the development of methods for in vitro to in vivo extrapolation and approaches to use in vivo dose-response data to determine human exposure limits for regulatory evaluations and decision-making. This Special Issue, which was inspired by the workshop, contains a series of papers that collectively address topics related to the aforementioned themes. The Issue includes contributions that collectively evaluate, describe and discuss in silico, in vitro, in vivo and statistical approaches that are facilitating the shift from qualitative hazard evaluation to quantitative risk assessment. The use and application of the benchmark dose approach was a central theme in many of the workshop presentations and discussions, and the Special Issue includes several contributions that outline novel applications for the analysis and interpretation of genetic toxicity data. Although the contents of the Special Issue constitutes an important step towards the adoption of quantitative methods for regulatory assessment of genetic toxicity, formal acceptance of quantitative methods for HHRA and regulatory decision-making will require consensus regarding the

  10. Bringing policy relevance and scientific discipline to environmental risk assessment for genetically modified crops.

    Science.gov (United States)

    Herman, Rod A; Garcia-Alonso, Monica; Layton, Raymond; Raybould, Alan

    2013-09-01

    Although public opinion is important in deciding what is valued by society, governments have determined that scientific expertise is required to evaluate potential environmental effects of genetically modified (GM) crops. We suggest how to evaluate rigorously the environmental effects of GM crops in the context of a scientific investigation. Following a disciplined scientific approach to environmental risk assessment (ERA) for GM crops should help resolve controversy in identifying and addressing risk.

  11. Scientific Opinion updating the risk assessment conclusions and risk management recommendations on the genetically modified insect resistant maize 1507

    Directory of Open Access Journals (Sweden)

    EFSA Panel on Genetically Modified Organisms (GMO

    2012-10-01

    Full Text Available

    Following a request from the European Commission, the Panel on Genetically Modified Organisms of the European Food Safety Authority (EFSA GMO Panel compiled its previous risk assessment conclusions and risk management recommendations on the genetically modified insect resistant maize 1507, and considered their validity in the light of new relevant scientific publications published from 2005 onwards. The EFSA GMO Panel performed a search of the scientific literature published between 2005 and September 2012, and identified 61 peer-reviewed publications containing evidence specific to the risk assessment and/or management of maize 1507, of which two were relevant for the food and feed safety assessment, and 34 for the environmental risk assessment and/or risk management. None of these publications reported new information that would invalidate the previous conclusions on the safety of maize 1507 made by the EFSA GMO Panel. Therefore, the EFSA GMO Panel considers that its previous risk assessment conclusions on maize 1507, as well as its previous recommendations on risk mitigation measures and monitoring, remain valid and applicable.

  12. Scientific Opinion updating the risk assessment conclusions and risk management recommendations on the genetically modified insect resistant maize Bt11

    Directory of Open Access Journals (Sweden)

    EFSA Panel on Genetically Modified Organisms (GMO

    2012-12-01

    Full Text Available Following a request from the European Commission, the Panel on Genetically Modified Organisms of the European Food Safety Authority (EFSA GMO Panel compiled its previous risk assessment conclusions and risk management recommendations on the genetically modified insect resistant maize Bt11, and considered their validity in the light of new relevant scientific publications published from 2005 onwards. Following a search of the scientific literature published between 2005 and October 2012, the EFSA GMO Panel identified 287 peer-reviewed publications containing evidence specific to the risk assessment and/or management of maize Bt11, of which 270 publications were previously discussed and cited in relevant GM maize-related applications and/or the numerous EFSA GMO Panel scientific outputs. From the remaining 17 publications, three were relevant for the food and feed safety assessment, and 14 for the environmental risk assessment and/or risk management of maize Bt11. None of these publications reported new information that would invalidate the previous conclusions on the safety of maize Bt11 made by the EFSA GMO Panel. Therefore, the EFSA GMO Panel considers that its previous risk assessment conclusions on maize Bt11, as well as its previous recommendations on risk mitigation measures and monitoring, remain valid and applicable.

  13. RELEVANCE OF CROP BIOLOGY FOR ENVIRONMENTAL RISK ASSESSMENT OF GENETICALLY MODIFIED CROPS IN AFRICA

    Directory of Open Access Journals (Sweden)

    Olalekan eAkinbo

    2015-10-01

    Full Text Available Knowledge about the crop biology of economic crops in Africa is needed for regulators to accurately review dossiers and conduct comprehensive environmental risk assessments (ERA. This information allows regulators to decide whether biotech crops present a risk to biodiversity, since crossing between domesticated crops and their wild relatives could affect the adaptations of the wild species. The criteria that should be used in the evaluation of African crops for environmental risk assessment (ERA include: growth habit, centre of origin, centre of genetic diversity, proximity of wild relatives, inter-fertility, mode of pollen dispersal, length of pollen viability, mating system, invasiveness, weediness, mode of propagation, mode of seed dispersal and length of seed dormancy. In this paper, we discuss the crops being genetic engineered in Africa and describe the crop biology of those with native relatives.

  14. Population-standardized genetic risk score: the SNP-based method of choice for inherited risk assessment of prostate cancer

    Directory of Open Access Journals (Sweden)

    Carly A Conran

    2016-01-01

    Full Text Available Several different approaches are available to clinicians for determining prostate cancer (PCa risk. The clinical validity of various PCa risk assessment methods utilizing single nucleotide polymorphisms (SNPs has been established; however, these SNP-based methods have not been compared. The objective of this study was to compare the three most commonly used SNP-based methods for PCa risk assessment. Participants were men (n = 1654 enrolled in a prospective study of PCa development. Genotypes of 59 PCa risk-associated SNPs were available in this cohort. Three methods of calculating SNP-based genetic risk scores (GRSs were used for the evaluation of individual disease risk such as risk allele count (GRS-RAC, weighted risk allele count (GRS-wRAC, and population-standardized genetic risk score (GRS-PS. Mean GRSs were calculated, and performances were compared using area under the receiver operating characteristic curve (AUC and positive predictive value (PPV. All SNP-based methods were found to be independently associated with PCa (all P 0.05 for comparisons between the three methods, and all three SNP-based methods had a significantly higher AUC than family history (all P < 0.05. Results from this study suggest that while the three most commonly used SNP-based methods performed similarly in discriminating PCa from non-PCa at the population level, GRS-PS is the method of choice for risk assessment at the individual level because its value (where 1.0 represents average population risk can be easily interpreted regardless of the number of risk-associated SNPs used in the calculation.

  15. Autism risk assessment in siblings of affected children using sex-specific genetic scores

    Directory of Open Access Journals (Sweden)

    Carayol Jerome

    2011-10-01

    Full Text Available Abstract Background The inheritance pattern in most cases of autism is complex. The risk of autism is increased in siblings of children with autism and previous studies have indicated that the level of risk can be further identified by the accumulation of multiple susceptibility single nucleotide polymorphisms (SNPs allowing for the identification of a higher-risk subgroup among siblings. As a result of the sex difference in the prevalence of autism, we explored the potential for identifying sex-specific autism susceptibility SNPs in siblings of children with autism and the ability to develop a sex-specific risk assessment genetic scoring system. Methods SNPs were chosen from genes known to be associated with autism. These markers were evaluated using an exploratory sample of 480 families from the Autism Genetic Resource Exchange (AGRE repository. A reproducibility index (RI was proposed and calculated in all children with autism and in males and females separately. Differing genetic scoring models were then constructed to develop a sex-specific genetic score model designed to identify individuals with a higher risk of autism. The ability of the genetic scores to identify high-risk children was then evaluated and replicated in an independent sample of 351 affected and 90 unaffected siblings from families with at least 1 child with autism. Results We identified three risk SNPs that had a high RI in males, two SNPs with a high RI in females, and three SNPs with a high RI in both sexes. Using these results, genetic scoring models for males and females were developed which demonstrated a significant association with autism (P = 2.2 × 10-6 and 1.9 × 10-5, respectively. Conclusions Our results demonstrate that individual susceptibility associated SNPs for autism may have important differential sex effects. We also show that a sex-specific risk score based on the presence of multiple susceptibility associated SNPs allow for the identification of

  16. Cancer Genetics Risk Assessment and Counseling (PDQ®)—Health Professional Version

    Science.gov (United States)

    Expert-reviewed information summary in which cancer risk perception, risk communication, and risk counseling are discussed. The summary also contains information about recording and analyzing a family history of cancer and factors to consider when offering genetic testing.

  17. Ethylene oxide: evaluation of genotoxicity data and an exploratory assessment of genetic risk.

    Science.gov (United States)

    Natarajan, A T; Preston, R J; Dellarco, V; Ehrenberg, L; Generoso, W; Lewis, S; Tates, A D

    1995-08-01

    A risk estimate of the heritable effects of ethylene oxide exposure, using the parallelogram approach, as suggested by Frits Sobels, is described. The approach is based on available data on the ethylene oxide-induced responses for the same genetic endpoint in somatic cells of both laboratory animals and humans, and for germ cell mutations in the same laboratory animal. Human germ cell effects are estimated. The available data sets for this approach were evaluated. We consider this as complementary to the genetic risk assessment carried out by U.S. EPA scientists, in which the risk from heritable (reciprocal) translocations induced by ethylene oxide was estimated. In the present study we restricted our assessment to dominant mutations. The sensitivity factor relating mouse to man was based on ethylene oxide-induced HPRT mutant frequencies in lymphocytes in vivo. From this comparison, it could be concluded that occupational exposure for 1 year to 1 ppm ethylene oxide would lead to a risk of a dominantly inherited disease in the offspring of 4 x 10(-4) above the background level. The uncertainty interval of this figure is quite large (0.6-28) x 10(-4). The values are compatible with the existing estimates of the corresponding risk from exposure to low LET radiation when the genotoxic potency ratio of ethylene oxide and radiation is considered. This risk estimation approach has allowed us to identify additional data that are required for a more complete risk estimation of the heritable effects of ethylene oxide, or indeed any mutagenic chemical.

  18. Integration of genetic and demographic data to assess population risk in a continuously distributed species

    Science.gov (United States)

    Fedy, Bradley C.; Row, Jeffery R.; Oyler-McCance, Sara J.

    2017-01-01

    The identification and demographic assessment of biologically meaningful populations is fundamental to species’ ecology and management. Although genetic tools are used frequently to identify populations, studies often do not incorporate demographic data to understand their respective population trends. We used genetic data to define subpopulations in a continuously distributed species. We assessed demographic independence and variation in population trends across the distribution. Additionally, we identified potential barriers to gene flow among subpopulations. We sampled greater sage-grouse (Centrocercus urophasianus) leks from across their range (≈175,000 Km2) in Wyoming and amplified DNA at 14 microsatellite loci for 1761 samples. Subsequently, we assessed population structure in unrelated individuals (n = 872) by integrating results from multiple Bayesian clustering approaches and used the boundaries to inform our assessment of long-term population trends and lek activity over the period of 1995–2013. We identified four genetic clusters of which two northern ones showed demographic independence from the others. Trends in population size for the northwest subpopulation were statistically different from the other three genetic clusters and the northeast and southwest subpopulations demonstrated a general trend of increasing proportion of inactive leks over time. Population change from 1996 to 2012 suggested population growth in the southern subpopulations and decline, or neutral, change in the northern subpopulations. We suggest that sage-grouse subpopulations in northern Wyoming are at greater risk of extirpation than the southern subpopulations due to smaller census and effective population sizes and higher variability within subpopulations. Our research is an example of incorporating genetic and demographic data and provides guidance on the identification of subpopulations of conservation concern.

  19. Considerations for Using Genetic and Epigenetic Information in Occupational Health Risk Assessment and Standard Setting

    Science.gov (United States)

    Schulte, P. A.; Whittaker, C.; Curran, C. P.

    2015-01-01

    Risk assessment forms the basis for both occupational health decision-making and the development of occupational exposure limits (OELs). Although genetic and epigenetic data have not been widely used in risk assessment and ultimately, standard setting, it is possible to envision such uses. A growing body of literature demonstrates that genetic and epigenetic factors condition biological responses to occupational and environmental hazards or serve as targets of them. This presentation addresses the considerations for using genetic and epigenetic information in risk assessments, provides guidance on using this information within the classic risk assessment paradigm, and describes a framework to organize thinking about such uses. The framework is a 4 × 4 matrix involving the risk assessment functions (hazard identification, dose-response modeling, exposure assessment, and risk characterization) on one axis and inherited and acquired genetic and epigenetic data on the other axis. The cells in the matrix identify how genetic and epigenetic data can be used for each risk assessment function. Generally, genetic and epigenetic data might be used as endpoints in hazard identification, as indicators of exposure, as effect modifiers in exposure assessment and dose-response modeling, as descriptors of mode of action, and to characterize toxicity pathways. Vast amounts of genetic and epigenetic data may be generated by high-throughput technologies. These data can be useful for assessing variability and reducing uncertainty in extrapolations, and they may serve as the foundation upon which identification of biological perturbations would lead to a new paradigm of toxicity pathway-based risk assessments. PMID:26583908

  20. A genetic risk tool for obesity predisposition assessment and personalized nutrition implementation based on macronutrient intake.

    Science.gov (United States)

    Goni, Leticia; Cuervo, Marta; Milagro, Fermín I; Martínez, J Alfredo

    2015-01-01

    There is little evidence about genetic risk score (GRS)-diet interactions in order to provide personalized nutrition based on the genotype. The aim of the study was to assess the value of a GRS on obesity prediction and to further evaluate the interactions between the GRS and dietary intake on obesity. A total of 711 seekers of a Nutrigenetic Service were examined for anthropometric and body composition measurements and also for dietary habits and physical activity. Oral epithelial cells were collected for the identification of 16 SNPs (related with obesity or lipid metabolism) using DNA zip-coded beads. Genotypes were coded as 0, 1 or 2 according to the number of risk alleles, and the GRS was calculated by adding risk alleles with such a criterion. After being adjusted for gender, age, physical activity and energy intake, the GRS demonstrated that individuals carrying >7 risk alleles had in average 0.93 kg/m(2) of BMI, 1.69 % of body fat mass, 1.94 cm of waist circumference and 0.01 waist-to-height ratio more than the individuals with ≤7 risk alleles. Significant interactions for GRS and the consumption of energy, total protein, animal protein, vegetable protein, total fat, saturated fatty acids, polyunsaturated fatty acids, total carbohydrates, complex carbohydrates and fiber intake on adiposity traits were found after adjusted for confounders variables. The GRS confirmed that the high genetic risk group showed greater values of adiposity than the low risk group and demonstrated that macronutrient intake modifies the GRS association with adiposity traits.

  1. Potential for Incorporation of Genetic Polymorphism Data in Human Health Risk Assessment

    Science.gov (United States)

    This overview summarizes several EPA assessment publications evaluating the potential impact of genetic polymorphisms in ten metabolizing enzymes on the variability in enzyme function across ethnically diverse populations.

  2. Barriers and Facilitators for Utilization of Genetic Counseling and Risk Assessment Services in Young Female Breast Cancer Survivors

    Directory of Open Access Journals (Sweden)

    Beth Anderson

    2012-01-01

    Full Text Available Introduction. Women diagnosed with breast cancer at a young age are more likely to carry a cancer predisposing genetic mutation. Per the current NCCN recommendations, women diagnosed under age 50 should be referred to cancer genetic counseling for further risk evaluation. This study seeks to assess patient-reported barriers and facilitators to receiving genetic counseling and risk assessment among a community-based population of young breast cancer survivors (YBCS. Methods. Through the Michigan Cancer Surveillance Program, a state-based cancer registry, 488 women diagnosed with breast cancer before age 50 in 2006-2007 were identified. They received a mail survey regarding family history and facilitators and barriers to receiving genetic counseling and risk assessment. Results. Responses were received from 289 women (59.2%. One hundred twenty-two (42.2% reported having received cancer genetic counseling. The most frequent reason identified for receiving services was to benefit their family's future. The top reasons for not attending were “no one recommended it” and “medical insurance coverage issues.” Discussion. This study is the first published report using a state cancer registry to determine facilitators and barriers to receiving genetic counseling and risk assessment among YBCS. These findings demonstrate the need for additional awareness and education about appropriate indications for genetic services.

  3. Risk assessment

    DEFF Research Database (Denmark)

    Pedersen, Liselotte; Rasmussen, Kirsten; Elsass, Peter

    2010-01-01

    International research suggests that using formalized risk assessment methods may improve the predictive validity of professionals' predictions of risk of future violence. This study presents data on forensic psychiatric patients discharged from a forensic unit in Denmark in year 2001-2002 (n=107......). All patients were assessed for risk of future violence utilizing a structured professional judgment model: the Historical-Clinical-Risk Management-20 (HCR-20) violence risk assessment scheme. After a follow-up period of 5.6 years, recidivism outcome were obtained from the Danish National Crime...... predictive of violent recidivism compared to static items. In sum, the findings support the use of structured professional judgment models of risk assessment and in particular the HCR-20 violence risk assessment scheme. Findings regarding the importance of the (clinical) structured final risk judgment...

  4. Meeting report of the EC/US workshop on genetic risk assessment: "human genetic risks from exposure to chemicals, focusing on the feasibility of a parallelogram approach".

    Science.gov (United States)

    Waters, M D; Nolan, C

    1994-05-01

    This workshop was the concept of Professor Frits Sobels who passed away on the 6th of July 1993. The underlying idea of the Sobels' parallelogram approach is that an estimate (corrected by DNA-adduct dosimetry) of the genetic damage in human germ cells can be obtained by measuring a common endpoint in human and mouse somatic cells (such as gene mutation in lymphocytes) and in germ cells of mice, the desired target tissue inaccessible in humans. The main objective of the workshop was to identify the methodology, data requirements and mechanistic research to understand the human health impact of germ-cell mutagens. 4 chemicals were selected for review at the meeting: ethylene oxide, 1,3-butadiene, acrylamide and cyclophosphamide. The first 3 are important industrial chemicals with substantial use worldwide and, therefore, considerable potential human exposure. The 4th, cyclophosphamide, is a commonly used cancer chemotherapeutic agent. This first EC/US workshop on risk assessment was highly focused on the feasibility of the parallelogram concept to estimate potential germ-cell effects in humans. It represented an evaluation of current knowledge and the identification of future research needs for a more precise assessment of human genetic risks from exposure to mutagenic chemicals.

  5. Approaches in the risk assessment of genetically modified foods by the Hellenic Food Safety Authority.

    Science.gov (United States)

    Varzakas, Theodoros H; Chryssochoidis, G; Argyropoulos, D

    2007-04-01

    Risk analysis has become important to assess conditions and take decisions on control procedures. In this context it is considered a prerequisite in the evaluation of GM food. Many consumers worldwide worry that food derived from genetically modified organisms (GMOs) may be unhealthy and hence regulations on GMO authorisations and labelling have become more stringent. Nowadays there is a higher demand for non-GM products and these products could be differentiated from GM products using the identity preservation system (IP) that could apply throughout the grain processing system. IP is the creation of a transparent communication system that encompasses HACCP, traceability and related systems in the supply chain. This process guarantees that certain characteristics of the lots of food (non-GM origin) are maintained "from farm to fork". This article examines the steps taken by the Hellenic Food Safety Authority to examine the presence of GMOs in foods. The whole integrated European legislation framework currently in place still needs to be implemented in Greece. Penalties should be enforced to those who import, process GMOs without special licence and do not label those products. Similar penalties should be enforced to those companies that issue false certificates beyond the liabilities taken by the food enterprises for farmers' compensation. We argue that Greece has no serious reasons to choose the use of GMOs due to the fact that the structural and pedologic characteristics of the Greek agriculture favour the biological and integrated cultivation more. Greece is not in favour of the politics behind coexistence of conventional and GM plants and objects to the use of GMOs in the food and the environment because the processor has a big burden in terms of money, time and will suffer a great deal in order to prove that their products are GMO free or that any contamination is adventitious or technically unavoidable. Moreover, Greece owns a large variety of genetic

  6. Risk assessment

    Energy Technology Data Exchange (ETDEWEB)

    Gittus, J.H.

    1986-03-01

    The article deals with the calculation of risks, as applied to living near to a) a nuclear reactor or b) an industrial complex. The application of risk assessment techniques to the pressurised water reactor (PWR) is discussed with respect to: containment, frequencies of degraded core accidents, release of radioisotopes, consequences and risk to society, and uncertainties. The risk assessment for an industrial complex concerns the work of the Safety and Reliability Directorate for the chemical complex on Canvey Island. (U.K.).

  7. General recommendations for soil ecotoxicological tests suitable for the environmental risk assessment of genetically modified plants.

    Science.gov (United States)

    Römbke, Jörg; Jänsch, Stephan; Meier, Matthias; Hilbeck, Angelika; Teichmann, Hanka; Tappeser, Beatrix

    2010-04-01

    Before a genetically modified plant (GMP) can be placed on the market in the European Union (EU), an environmental risk assessment has to be conducted according to EU-Directive 2001/18/EC or Regulation (EC) No. 1829/2003 of the European Parliament and of the Council. However, no harmonized concept for ecotoxicological testing is available today that considers the characteristics of GMPs as a whole. In fact, to date, mainly ecotoxicological tests originally developed and standardized for pesticides are used for this purpose. Frequently in these tests, not the whole GMP is tested but only specific transgene products (mainly toxins). In this contribution, ecotoxicological methods developed for the testing of pesticides are evaluated for whether they are suitable for risk assessment of GMPs as well. In total, 105 test methods covering a wide range of terrestrial invertebrates, microbes, and plants (laboratory, semifield, and field levels) were assessed. Only 7 of them had already been used with GMPs, and in about 20 studies the existing tests methods were modified, mostly in a way such that nonstandard species were used. In the laboratory, few earthworm and nontarget arthropod (NTA) species as well as collembolans and isopods were tested, and, in the field, only the litter-bag test was used. Clearly, more species than these few standard organisms currently in use have to be selected for testing purposes. A more detailed analysis of GMP tests with soil invertebrates published in the literature revealed that some of the relevant GMP exposure routes, such as via bulk soil, soil porewater, and litter from GMPs, are well covered. However, studies addressing either consumption of GMPs themselves or secondary exposure after GMPs have been taken up by invertebrates that feed on living or dead GMPs are underrepresented. (c) 2009 SETAC.

  8. Understanding emotional responses to breast/ovarian cancer genetic risk assessment: an applied test of a cognitive theory of emotion.

    Science.gov (United States)

    Phelps, Ceri; Bennett, Paul; Brain, Kate

    2008-10-01

    This study explored whether Smith and Lazarus' (1990, 1993) cognitive theory of emotion could predict emotional responses to an emotionally ambiguous real-life situation. Questionnaire data were collected from 145 women upon referral for cancer genetic risk assessment. These indicated a mixed emotional reaction of both positive and negative emotions to the assessment. Hierarchical regression analyses revealed that the hypothesised models explained between 20% and 33% of the variance of anxiety, hope and gratitude scores, but only 10% of the variance for challenge scores. For the previously unmodelled emotion of relief, 31% of the variance was explained by appraisals and core relational themes. The findings help explain why emotional responses to cancer genetic risk assessment vary and suggest that improving the accuracy of individuals' beliefs and expectations about the assessment process may help subsequent adaptation to risk information.

  9. GM Risk Assessment

    Science.gov (United States)

    Sparrow, Penny A. C.

    GM risk assessments play an important role in the decision-making process surrounding the regulation, notification and permission to handle Genetically Modified Organisms (GMOs). Ultimately the role of a GM risk assessment will be to ensure the safe handling and containment of the GMO; and to assess any potential impacts on the environment and human health. A risk assessment should answer all ‘what if’ scenarios, based on scientific evidence.

  10. Principles for the risk assessment of genetically modified microorganisms and their food products in the European Union.

    Science.gov (United States)

    Aguilera, Jaime; Gomes, Ana R; Olaru, Irina

    2013-10-01

    Genetically modified microorganisms (GMMs) are involved in the production of a variety of food and feed. The release and consumption of these products can raise questions about health and environmental safety. Therefore, the European Union has different legislative instruments in place in order to ensure the safety of such products. A key requirement is to conduct a scientific risk assessment as a prerequisite for the product to be placed on the market. This risk assessment is performed by the European Food Safety Authority (EFSA), through its Scientific Panels. The EFSA Panel on Genetically Modified Organisms has published complete and comprehensive guidance for the risk assessment of GMMs and their products for food and/or feed use, in which the strategy and the criteria to conduct the assessment are explained, as well as the scientific data to be provided in applications for regulated products. This Guidance follows the main risk assessment principles developed by various international organisations (Codex Alimentarius, 2003; OECD, 2010). The assessment considers two aspects: the characterisation of the GMM and the possible effects of its modification with respect to safety, and the safety of the product itself. Due to the existing diversity of GMMs and their products, a categorisation is recommended to optimise the assessment and to determine the extent of the required data. The assessment starts with a comprehensive characterisation of the GMM, covering the recipient/parental organism, the donor(s) of the genetic material, the genetic modification, and the final GMM and its phenotype. Evaluation of the composition, potential toxicity and/or allergenicity, nutritional value and environmental impact of the product constitute further cornerstones of the process. The outcome of the assessment is reflected in a scientific opinion which indicates whether the product raises any safety issues. This opinion is taken into account by the different European regulatory

  11. An ecologically-based method for selecting ecological indicators for assessing risks to biological diversity from genetically-engineered plants

    DEFF Research Database (Denmark)

    Andow, D. A.; Lövei, Gabor L; Arpaia, Salvatore

    2013-01-01

    -driven, ecologically-based decision-making and provides formal methods for completing a screening level-ERA that can focus ERA on the most significant concerns. The process requires substantial human input but the human capital is available in most countries and regions of the world.......The environmental risks associated with genetically-engineered (GE) organisms have been controversial, and so have the models for the assessment of these risks. We propose an ecologically-based environmental risk assessment (ERA) model that follows the 1998 USEPA guidelines, focusing on potential....... Knowledge about the specific transgene and its possible environmental effects in other countries can be used to assist development of risk hypotheses. (6) The risk hypotheses are ranked using MCDA with criteria related to the severity of the potential risk. The model emphasizes transparent, expert...

  12. Genetically engineered trees for plantation forests: key considerations for environmental risk assessment.

    Science.gov (United States)

    Häggman, Hely; Raybould, Alan; Borem, Aluizio; Fox, Thomas; Handley, Levis; Hertzberg, Magnus; Lu, Meng-Zu; Macdonald, Philip; Oguchi, Taichi; Pasquali, Giancarlo; Pearson, Les; Peter, Gary; Quemada, Hector; Séguin, Armand; Tattersall, Kylie; Ulian, Eugênio; Walter, Christian; McLean, Morven

    2013-09-01

    Forests are vital to the world's ecological, social, cultural and economic well-being yet sustainable provision of goods and services from forests is increasingly challenged by pressures such as growing demand for wood and other forest products, land conversion and degradation, and climate change. Intensively managed, highly productive forestry incorporating the most advanced methods for tree breeding, including the application of genetic engineering (GE), has tremendous potential for producing more wood on less land. However, the deployment of GE trees in plantation forests is a controversial topic and concerns have been particularly expressed about potential harms to the environment. This paper, prepared by an international group of experts in silviculture, forest tree breeding, forest biotechnology and environmental risk assessment (ERA) that met in April 2012, examines how the ERA paradigm used for GE crop plants may be applied to GE trees for use in plantation forests. It emphasizes the importance of differentiating between ERA for confined field trials of GE trees, and ERA for unconfined or commercial-scale releases. In the case of the latter, particular attention is paid to characteristics of forest trees that distinguish them from shorter-lived plant species, the temporal and spatial scale of forests, and the biodiversity of the plantation forest as a receiving environment.

  13. Establishing a risk-assessment process for release of genetically modified wine yeast into the environment.

    Science.gov (United States)

    Schoeman, Heidi; Wolfaardt, Gideon M; Botha, Alfred; van Rensburg, Pierre; Pretorius, Isak S

    2009-08-01

    The use and release of genetically modified organisms (GMOs) is an issue of intense public concern and, in the case of food and beverages, products containing GMOs or products thereof carry the risk of consumer rejection. The recent commercialization of 2 GM wine yeasts in the United States and Canada has made research and development of risk assessments for GM microorganisms a priority. The purpose of this study was to take a first step in establishing a risk-assessment process for future use and potential release of GM wine yeasts into the environment. The behaviour and spread of a GM wine yeast was monitored in saturated sand columns, saturated sand flow cells, and conventional flow cells. A widely used commercial Saccharomyces cerevisiae wine yeast, VIN13, a VIN13 transgenic strain (LKA1, which carries the LKA1 alpha-amylase gene of Lipomyces kononenkoae), a soil bacterium (Dyadobacter fermentens), and a nonwine soil-borne yeast (Cryptococcus laurentii) were compared in laboratory-scale microcosm systems designed to monitor microbial mobility behaviour, survival, and attachment to surfaces. It was found that LKA1 cells survived in saturated sand columns, but showed little mobility in the porous matrix, suggesting that the cells attached with high efficiency to sand. There was no significant difference between the mobility patterns of LKA1 and VIN13. All 3 yeasts (VIN13, LKA1, and C. laurentii) were shown to form stable biofilms; the 2 S. cerevisiae strains either had no difference in biofilm density or the LKA1 biofilm was less dense than that of VIN13. When co-inoculated with C. laurentii, LKA1 had no negative influence on the breakthrough of the Cryptococcus yeast in a sand column or on its ability to form biofilms. In addition, LKA1 did not successfully integrate into a stable mixed-biofilm community, nor did it disrupt the biofilm community. Overall, it was concluded that the LKA1 transgenic yeast had the same reproductive success as VIN13 in these 3

  14. Biosafety risk assessment approaches for insect-resistant genetically modified crops

    Directory of Open Access Journals (Sweden)

    Inaam Ullah

    2017-02-01

    Full Text Available Background: Environmental risk assessment (ERA is imperative for commercial release of insect resistant, genetically modified crops (IR-GMCs.An insect specific, spider venom peptideω-HXTX-Hv1a (Hvt was successfully expressed in cotton plants. The cotton plants producing Hvt protein have demonstrated resistance against economically important insect pest species. The study was performed to assess the effects of Hvt producing cotton plants on Honey bees (Apis mellifera. Methods: Three approaches were used to evaluate the effects of Hvt protein on adults of honeybees; whole plant assays in flight cages, in vitro assays with pollen of Hvt-cotton, and assays with elevated levels of purified Hvt protein. Pollens of Bt cotton or purified Bt proteins were used as control. Results: The field experiments did not yield any meaningful data due to high rate of mortality in all treatments including the control. However, the laboratory experiments provided conclusive results in which Hvt, purified or in pollens, did not affect the survival or longevity of the bees compared to the control. During the course of study we were able to compare the quality, effectiveness and economics of different experiments. Conclusions: We conclude that Hvt either purified or produced in cotton plants do not affect the survival or longevity of honey bees. We are also of the view that starting at laboratory level assays not only gives meaningful data but also saves a lot of time and money that can be spent on other important questions regarding safety of a particular transgenic crop. Hence, a purpose-based, tiered approach could be the best choice for pre-release ERA of IR-GMCs.

  15. RELEVANCE OF CROP BIOLOGY FOR ENVIRONMENTAL RISK ASSESSMENT OF GENETICALLY MODIFIED CROPS IN AFRICA

    OpenAIRE

    2015-01-01

    Knowledge about the crop biology of economic crops in Africa is needed for regulators to accurately review dossiers and conduct comprehensive environmental risk assessments (ERA). This information allows regulators to decide whether biotech crops present a risk to biodiversity, since crossing between domesticated crops and their wild relatives could affect the adaptations of the wild species. The criteria that should be used in the evaluation of African crops for environmental risk assessmen...

  16. Problem formulation and hypothesis testing for environmental risk assessments of genetically modified crops.

    Science.gov (United States)

    Raybould, Alan

    2006-01-01

    Environmental risk assessments can provide high confidence of minimal risk by testing theories, "risk hypotheses", that predict the likelihood of unacceptable harmful events. The creation of risk hypotheses and a plan to test them is called problem formulation. Effective problem formulation seeks to maximize the possibility of detecting effects that indicate potential risk; if such effects are not detected, minimal risk is indicated with high confidence. Two important implications are that artificial test conditions can increase confidence, whereas prescriptive data requirements can reduce confidence (increase uncertainty) if they constrain problem formulation. Poor problem formulation can increase environmental risk because it leads to the collection of superfluous data that may delay or prevent the introduction of environmentally beneficial products.

  17. Polygenic risk assessment reveals pleiotropy between sarcoidosis and inflammatory disorders in the context of genetic ancestry.

    Science.gov (United States)

    Lareau, C A; DeWeese, C F; Adrianto, I; Lessard, C J; Gaffney, P M; Iannuzzi, M C; Rybicki, B A; Levin, A M; Montgomery, C G

    2017-03-01

    Sarcoidosis is a complex disease of unknown etiology characterized by the presence of granulomatous inflammation. Though various immune system pathways have been implicated in disease, the relationship between the genetic determinants of sarcoidosis and other inflammatory disorders has not been characterized. Herein, we examined the degree of genetic pleiotropy common to sarcoidosis and other inflammatory disorders to identify shared pathways and disease systems pertinent to sarcoidosis onset. To achieve this, we quantify the association of common variant polygenic risk scores from nine complex inflammatory disorders with sarcoidosis risk. Enrichment analyses of genes implicated in pleiotropic associations were further used to elucidate candidate pathways. In European-Americans, we identify significant pleiotropy between risk of sarcoidosis and risk of asthma (R(2)=2.03%; P=8.89 × 10(-9)), celiac disease (R(2)=2.03%; P=8.21 × 10(-9)), primary biliary cirrhosis (R(2)=2.43%; P=2.01 × 10(-10)) and rheumatoid arthritis (R(2)=4.32%; P=2.50 × 10(-17)). These associations validate in African Americans only after accounting for the proportion of genome-wide European ancestry, where we demonstrate similar effects of polygenic risk for African-Americans with the highest levels of European ancestry. Variants and genes implicated in European-American pleiotropic associations were enriched for pathways involving interleukin-12, interleukin-27 and cell adhesion molecules, corroborating the hypothesized immunopathogenesis of disease.

  18. DNA barcoding simplifies environmental risk assessment of genetically modified crops in biodiverse regions.

    Directory of Open Access Journals (Sweden)

    Chinyere V Nzeduru

    Full Text Available Transgenes encoding for insecticidal crystal (Cry proteins from the soil-dwelling bacterium Bacillus Thuringiensis have been widely introduced into Genetically Modified (GM crops to confer protection against insect pests. Concern that these transgenes may also harm beneficial or otherwise valued insects (so-called Non Target Organisms, NTOs represents a major element of the Environmental Risk Assessments (ERAs used by all countries prior to commercial release. Compiling a comprehensive list of potentially susceptible NTOs is therefore a necessary part of an ERA for any Cry toxin-containing GM crop. In partly-characterised and biodiverse countries, NTO identification is slowed by the need for taxonomic expertise and time to enable morphological identifications. This limitation represents a potentially serious barrier to timely adoption of GM technology in some developing countries. We consider Bt Cry1A cowpea (Vigna unguiculata in Nigeria as an exemplar to demonstrate how COI barcoding can provide a simple and cost-effective means of addressing this problem. Over a period of eight weeks, we collected 163 insects from cowpea flowers across the agroecological and geographic range of the crop in Nigeria. These individuals included 32 Operational Taxonomic Units (OTUs spanning four Orders and that could mostly be assigned to genus or species level. They included 12 Lepidopterans and two Coleopterans (both potentially sensitive to different groups of Cry proteins. Thus, barcode-assisted diagnoses were highly harmonised across groups (typically to genus or species level and so were insensitive to expertise or knowledge gaps. Decisively, the entire study was completed within four months at a cost of less than 10,000 US$. The broader implications of the findings for food security and the capacity for safe adoption of GM technology are briefly explored.

  19. Assessing genetically modified crops to minimize the risk of increased food allergy: a review.

    Science.gov (United States)

    Goodman, Richard E; Hefle, Susan L; Taylor, Steven L; van Ree, Ronald

    2005-06-01

    The first genetically modified (GM) crops approved for food use (tomato and soybean) were evaluated for safety by the United States Food and Drug Administration prior to commercial production. Among other factors, those products and all additional GM crops that have been grown commercially have been evaluated for potential increases in allergenic properties using methods that are consistent with the current understanding of food allergens and knowledge regarding the prediction of allergenic activity. Although there have been refinements, the key aspects of the evaluation have not changed. The allergenic properties of the gene donor and the host (recipient) organisms are considered in determining the appropriate testing strategy. The amino acid sequence of the encoded protein is compared to all known allergens to determine whether the protein is a known allergen or is sufficiently similar to any known allergen to indicate an increased probability of allergic cross-reactivity. Stability of the protein in the presence of acid with the stomach protease pepsin is tested as a risk factor for food allergenicity. In vitro or in vivo human IgE binding are tested when appropriate, if the gene donor is an allergen or the sequence of the protein is similar to an allergen. Serum donors and skin test subjects are selected based on their proven allergic responses to the gene donor or to material containing the allergen that was matched in sequence. While some scientists and regulators have suggested using animal models, performing broadly targeted serum IgE testing or extensive pre- or post-market clinical tests, current evidence does not support these tests as being predictive or practical. Based on the evidence to date, the current assessment process has worked well to prevent the unintended introduction of allergens in commercial GM crops.

  20. Recommendations for the design of laboratory studies on non-target arthropods for risk assessment of genetically engineered plants.

    Science.gov (United States)

    Romeis, Jörg; Hellmich, Richard L; Candolfi, Marco P; Carstens, Keri; De Schrijver, Adinda; Gatehouse, Angharad M R; Herman, Rod A; Huesing, Joseph E; McLean, Morven A; Raybould, Alan; Shelton, Anthony M; Waggoner, Annabel

    2011-02-01

    This paper provides recommendations on experimental design for early-tier laboratory studies used in risk assessments to evaluate potential adverse impacts of arthropod-resistant genetically engineered (GE) plants on non-target arthropods (NTAs). While we rely heavily on the currently used proteins from Bacillus thuringiensis (Bt) in this discussion, the concepts apply to other arthropod-active proteins. A risk may exist if the newly acquired trait of the GE plant has adverse effects on NTAs when they are exposed to the arthropod-active protein. Typically, the risk assessment follows a tiered approach that starts with laboratory studies under worst-case exposure conditions; such studies have a high ability to detect adverse effects on non-target species. Clear guidance on how such data are produced in laboratory studies assists the product developers and risk assessors. The studies should be reproducible and test clearly defined risk hypotheses. These properties contribute to the robustness of, and confidence in, environmental risk assessments for GE plants. Data from NTA studies, collected during the analysis phase of an environmental risk assessment, are critical to the outcome of the assessment and ultimately the decision taken by regulatory authorities on the release of a GE plant. Confidence in the results of early-tier laboratory studies is a precondition for the acceptance of data across regulatory jurisdictions and should encourage agencies to share useful information and thus avoid redundant testing.

  1. Relevance of Crop Biology for Environmental Risk Assessment of Genetically Modified Crops in Africa

    OpenAIRE

    2015-01-01

    Knowledge about the crop biology of economic crops in Africa is needed for regulators to accurately review dossiers and conduct comprehensive environmental risk assessments (ERAs). This information allows regulators to decide whether biotech crops present a risk to biodiversity, since crossing between domesticated crops and their wild relatives could affect the adaptations of the wild species. The criteria that should be used in the evaluation of African crops for ERA include growth habit, ce...

  2. [Genetic risk and discrimination].

    Science.gov (United States)

    Vidal Gallardo, Mercedes

    2010-01-01

    The continuous advances in our society in the last decades have allowed us to get to know the personal genetic data. Although this discovery has important benefits, it also causes a great paradox, since the genetic information can be an element of social stigma, and its inappropriate use can damage the fundamental rights. It is obvious that there are cases in which the genetic risk, that is, the predisposition of a person to suffer some illnesses, can be a discriminatory element, especially in the contractual field.

  3. Risk assessment of gene flow from genetically engineered virus resistant cassava to wild relatives in Africa: an expert panel report.

    Science.gov (United States)

    Hokanson, Karen E; Ellstrand, Norman C; Dixon, Alfred G O; Kulembeka, Heneriko P; Olsen, Kenneth M; Raybould, Alan

    2016-02-01

    The probability and consequences of gene flow to wild relatives is typically considered in the environmental risk assessment of genetically engineered crops. This is a report from a discussion by a group of experts who used a problem formulation approach to consider existing information for risk assessment of gene flow from cassava (Manihot esculenta) genetically engineered for virus resistance to the 'wild' (naturalized) relative M. glaziovii in East Africa. Two environmental harms were considered in this case: (1) loss of genetic diversity in the germplasm pool, and (2) loss of valued species, ecosystem resources, or crop yield and quality due to weediness or invasiveness of wild relatives. Based on existing information, it was concluded that gene flow will occur, but it is not likely that this will reduce the genetic diversity in the germplasm pool. There is little existing information about the impact of the virus in natural populations that could be used to inform a prediction about whether virus resistance would lead to an increase in reproduction or survival, hence abundance of M. glaziovii. However, an increase in the abundance of M. glaziovii should be manageable, and would not necessarily lead to the identified environmental harms.

  4. Integrating clinical features and genetic lesions in the risk assessment of patients with chronic myelomonocytic leukemia

    Science.gov (United States)

    Elena, Chiara; Gallì, Anna; Such, Esperanza; Meggendorfer, Manja; Germing, Ulrich; Rizzo, Ettore; Cervera, Jose; Molteni, Elisabetta; Fasan, Annette; Schuler, Esther; Ambaglio, Ilaria; Lopez-Pavia, Maria; Zibellini, Silvia; Kuendgen, Andrea; Travaglino, Erica; Sancho-Tello, Reyes; Catricalà, Silvia; Vicente, Ana I.; Haferlach, Torsten; Haferlach, Claudia; Sanz, Guillermo F.; Cazzola, Mario

    2016-01-01

    Chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative neoplasm with variable clinical course. To predict the clinical outcome, we previously developed a CMML-specific prognostic scoring system (CPSS) based on clinical parameters and cytogenetics. In this work, we tested the hypothesis that accounting for gene mutations would further improve risk stratification of CMML patients. We therefore sequenced 38 genes to explore the role of somatic mutations in disease phenotype and clinical outcome. Overall, 199 of 214 (93%) CMML patients carried at least 1 somatic mutation. Stepwise linear regression models showed that these mutations accounted for 15% to 24% of variability of clinical phenotype. Based on multivariable Cox regression analyses, cytogenetic abnormalities and mutations in RUNX1, NRAS, SETBP1, and ASXL1 were independently associated with overall survival (OS). Using these parameters, we defined a genetic score that identified 4 categories with significantly different OS and cumulative incidence of leukemic evolution. In multivariable analyses, genetic score, red blood cell transfusion dependency, white blood cell count, and marrow blasts retained independent prognostic value. These parameters were included into a clinical/molecular CPSS (CPSS-Mol) model that identified 4 risk groups with markedly different median OS (from >144 to 18 months, hazard ratio [HR] = 2.69) and cumulative incidence of leukemic evolution (from 0% to 48% at 4 years, HR = 3.84) (P < .001). The CPSS-Mol fully retained its ability to risk stratify in an independent validation cohort of 260 CMML patients. In conclusion, integrating conventional parameters and gene mutations significantly improves risk stratification of CMML patients, providing a robust basis for clinical decision-making and a reliable tool for clinical trials. PMID:27385790

  5. Genetically modified crops and aquatic ecosystems: considerations for environmental risk assessment and non-target organism testing.

    Science.gov (United States)

    Carstens, Keri; Anderson, Jennifer; Bachman, Pamela; De Schrijver, Adinda; Dively, Galen; Federici, Brian; Hamer, Mick; Gielkens, Marco; Jensen, Peter; Lamp, William; Rauschen, Stefan; Ridley, Geoff; Romeis, Jörg; Waggoner, Annabel

    2012-08-01

    Environmental risk assessments (ERA) support regulatory decisions for the commercial cultivation of genetically modified (GM) crops. The ERA for terrestrial agroecosystems is well-developed, whereas guidance for ERA of GM crops in aquatic ecosystems is not as well-defined. The purpose of this document is to demonstrate how comprehensive problem formulation can be used to develop a conceptual model and to identify potential exposure pathways, using Bacillus thuringiensis (Bt) maize as a case study. Within problem formulation, the insecticidal trait, the crop, the receiving environment, and protection goals were characterized, and a conceptual model was developed to identify routes through which aquatic organisms may be exposed to insecticidal proteins in maize tissue. Following a tiered approach for exposure assessment, worst-case exposures were estimated using standardized models, and factors mitigating exposure were described. Based on exposure estimates, shredders were identified as the functional group most likely to be exposed to insecticidal proteins. However, even using worst-case assumptions, the exposure of shredders to Bt maize was low and studies supporting the current risk assessments were deemed adequate. Determining if early tier toxicity studies are necessary to inform the risk assessment for a specific GM crop should be done on a case by case basis, and should be guided by thorough problem formulation and exposure assessment. The processes used to develop the Bt maize case study are intended to serve as a model for performing risk assessments on future traits and crops.

  6. An ecologically-based method for selecting ecological indicators for assessing risks to biological diversity from genetically-engineered plants

    DEFF Research Database (Denmark)

    Andow, D. A.; Lövei, Gabor L; Arpaia, Salvatore

    2013-01-01

    into ecological functional groups and selecting those that deliver the identified environmental values. (3) All of the species or ecosystem processes related to the selected functional groups are identified and (4) multi-criteria decision analysis (MCDA) is used to rank the indicator endpoint entities, which may......-driven, ecologically-based decision-making and provides formal methods for completing a screening level-ERA that can focus ERA on the most significant concerns. The process requires substantial human input but the human capital is available in most countries and regions of the world.......The environmental risks associated with genetically-engineered (GE) organisms have been controversial, and so have the models for the assessment of these risks. We propose an ecologically-based environmental risk assessment (ERA) model that follows the 1998 USEPA guidelines, focusing on potential...

  7. Genetically modified plants and food hypersensitivity diseases: usage and implications of experimental models for risk assessment.

    Science.gov (United States)

    Prescott, Vanessa E; Hogan, Simon P

    2006-08-01

    The recent advances in biotechnology in the plant industry have led to increasing crop production and yield that in turn has increased the usage of genetically modified (GM) food in the human food chain. The usage of GM foods for human consumption has raised a number of fundamental questions including the ability of GM foods to elicit potentially harmful immunological responses, including allergic hypersensitivity. To assess the safety of foods derived from GM plants including allergenic potential, the US FDA, Food and Agriculture Organization of the United Nations (FAO)/World Health Organization (WHO), and the EU have developed approaches for evaluation assessment. One assessment approach that has been a very active area of research and debate is the development and usage of animal models to assess the potential allergenicity of GM foods. A number of specific animal models employing rodents, pigs, and dogs have been developed for allergenicity assessment. However, validation of these models is needed and consideration of the criteria for an appropriate animal model for the assessment of allergenicity in GM plants is required. We have recently employed a BALB/c mouse model to assess the potential allergenicity of GM plants. We have been able to demonstrate that this model is able to detect differences in antigenicity and identify aspects of protein post-translational modifications that can alter antigenicity. Furthermore, this model has also enabled us to examine the usage of GM plants as a therapeutic approach for the treatment of allergic diseases. This review discusses the current approaches to assess the allergenic potential of GM food and particularly focusing on the usage of animal models to determine the potential allergenicity of GM foods and gives an overview of our recent findings and implications of these studies.

  8. Genetically modified lactic acid bacteria: applications to food or health and risk assessment.

    Science.gov (United States)

    Renault, Pierre

    2002-11-01

    Lactic acid bacteria have a long history of use in fermented food products. Progress in gene technology allows their modification by introducing new genes or by modifying their metabolic functions. These modifications may lead to improvements in food technology (bacteria better fitted to technological processes, leading to improved organoleptic properties em leader ), or to new applications including bacteria producing therapeutic molecules that could be delivered by mouth. Examples in these two fields will be discussed, at the same time evaluating their potential benefit to society and the possible risks associated with their use. Risk assessment and expected benefits will determine the future use of modified bacteria in the domains of food technology and health.

  9. A statistical simulation model for field testing of non-target organisms in environmental risk assessment of genetically modified plants.

    Science.gov (United States)

    Goedhart, Paul W; van der Voet, Hilko; Baldacchino, Ferdinando; Arpaia, Salvatore

    2014-04-01

    Genetic modification of plants may result in unintended effects causing potentially adverse effects on the environment. A comparative safety assessment is therefore required by authorities, such as the European Food Safety Authority, in which the genetically modified plant is compared with its conventional counterpart. Part of the environmental risk assessment is a comparative field experiment in which the effect on non-target organisms is compared. Statistical analysis of such trials come in two flavors: difference testing and equivalence testing. It is important to know the statistical properties of these, for example, the power to detect environmental change of a given magnitude, before the start of an experiment. Such prospective power analysis can best be studied by means of a statistical simulation model. This paper describes a general framework for simulating data typically encountered in environmental risk assessment of genetically modified plants. The simulation model, available as Supplementary Material, can be used to generate count data having different statistical distributions possibly with excess-zeros. In addition the model employs completely randomized or randomized block experiments, can be used to simulate single or multiple trials across environments, enables genotype by environment interaction by adding random variety effects, and finally includes repeated measures in time following a constant, linear or quadratic pattern in time possibly with some form of autocorrelation. The model also allows to add a set of reference varieties to the GM plants and its comparator to assess the natural variation which can then be used to set limits of concern for equivalence testing. The different count distributions are described in some detail and some examples of how to use the simulation model to study various aspects, including a prospective power analysis, are provided.

  10. Problem formulation and option assessment (PFOA) linking governance and environmental risk assessment for technologies: a methodology for problem analysis of nanotechnologies and genetically engineered organisms.

    Science.gov (United States)

    Nelson, Kristen C; Andow, David A; Banker, Michael J

    2009-01-01

    Societal evaluation of new technologies, specifically nanotechnology and genetically engineered organisms (GEOs), challenges current practices of governance and science. Employing environmental risk assessment (ERA) for governance and oversight assumes we have a reasonable ability to understand consequences and predict adverse effects. However, traditional ERA has come under considerable criticism for its many shortcomings and current governance institutions have demonstrated limitations in transparency, public input, and capacity. Problem Formulation and Options Assessment (PFOA) is a methodology founded on three key concepts in risk assessment (science-based consideration, deliberation, and multi-criteria analysis) and three in governance (participation, transparency, and accountability). Developed through a series of international workshops, the PFOA process emphasizes engagement with stakeholders in iterative stages, from identification of the problem(s) through comparison of multiple technology solutions that could be used in the future with their relative benefits, harms, and risk. It provides "upstream public engagement" in a deliberation informed by science that identifies values for improved decision making.

  11. Safety and risk assessment of the genetically modified Lactococci on rats intestinal bacterial flora.

    Science.gov (United States)

    Lee, Kai-Chien; Liu, Chin-Feng; Lin, Tzu-Hsing; Pan, Tzu-Ming

    2010-08-15

    The interaction between Lactococcus lactis NZ9000/pNZPNK and intestinal microflora was evaluated as a method to assess safety of genetically modified microorganisms (GMMs). L. lactis NZ9000/pNZPNK is one kind of GMM and able to produce the intracellular subtilisin NAT (nattokinase) under induction with nisin. The host strain L. lactis NZ9000 was a generally recognized as safe (GRAS) microorganism. Six groups of Wistar rats were orally administered with L. lactis NZ9000/pNZPNK and L. lactis NZ9000 for 6 weeks. Fecal and cecal contents were collected to determine the number of L. lactis NZ9000, L. lactis NZ9000/pNZPNK, Lactobacillus, coliform bacteria, beneficial bacteria Bifidobacterium and harmful bacteria Clostridium perfringens. The liver, spleen, kidney and blood were evaluated for the bacterial translocation. After 6 weeks consumption with GM and non-GM Lactococcus, no adverse effects were observed on the rat's body weight, hematological or serum biochemical parameters, or intestinal microflora. The bacterial translocation test showed that L. lactis NZ9000/pNZPNK did not translocate to any organ or blood. Bifidobacterium was significantly increased in feces after administration of both Lactococcus strains (L. lactis NZ9000 and L. lactis NZ9000/pNZPNK), while C. perfringens remained undetectable during the experiment. These results suggested that L. lactis NZ9000/pNZPNK could be safe in animal experiments and monitoring of the interaction between test strains and intestinal microflora might be applied as a method for other GMM safety assessments.

  12. Genetic risk estimation by healthcare professionals

    OpenAIRE

    Bonke, Benno; Tibben, Arend; Lindhout, Dick; Clarke, Angus; Stijnen, Theo

    2005-01-01

    textabstractOBJECTIVES: To assess whether healthcare professionals correctly incorporate the relevance of a favourable test outcome in a close relative when determining the level of risk for individuals at risk for Huntington's disease. DESIGN AND SETTING: Survey of clinical geneticists and genetic counsellors from 12 centres of clinical genetics (United Kingdom, 6; The Netherlands, 4; Italy, 1; Australia, 1) in May-June 2002. Participants were asked to assess risk of specific individuals in ...

  13. Genetic interest assessment

    Science.gov (United States)

    Doughney, Erin

    Genetics is becoming increasingly integrated into peoples' lives. Different measures have been taken to try and better genetics education. This thesis examined undergraduate students at the University of North Texas not majoring in the life sciences interest in genetic concepts through the means of a Likert style survey. ANOVA analysis showed there was variation amongst the interest level in different genetic concepts. In addition age and lecture were also analyzed as contributing factors to students' interest. Both age and lecture were evaluated to see if they contributed to the interest of students in genetic concepts and neither showed statistical significance. The Genetic Interest Assessment (GIA) serves to help mediate the gap between genetic curriculum and students' interest.

  14. Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil

    Science.gov (United States)

    2009-01-01

    In 2004, a population-based cohort (the Núcleo Mama Porto Alegre - NMPOA Cohort) was started in Porto Alegre, southern Brazil and within that cohort, a hereditary breast cancer study was initiated, aiming to determine the prevalence of hereditary breast cancer phenotypes and evaluate acceptance of a genetic cancer risk assessment (GCRA) program. Women from that cohort who reported a positive family history of cancer were referred to GCRA. Of the 9218 women enrolled, 1286 (13.9%) reported a family history of cancer. Of the 902 women who attended GCRA, 55 (8%) had an estimated lifetime risk of breast cancer ≥ 20% and 214 (23.7%) had pedigrees suggestive of a breast cancer predisposition syndrome; an unexpectedly high number of these fulfilled criteria for Li-Fraumeni-like syndrome (122 families, 66.7%). The overall prevalence of a hereditary breast cancer phenotype was 6.2% (95%CI: 5.67-6.65). These findings identified a problem of significant magnitude in the region and indicate that genetic cancer risk evaluation should be undertaken in a considerable proportion of the women from this community. The large proportion of women who attended GCRA (72.3%) indicates that the program was well-accepted by the community, regardless of the potential cultural, economic and social barriers. PMID:21637504

  15. ASSESSING POSSIBLE ECOLOGICAL RISKS OF GENETICALLY MODIFIED CROPS: GENE EXPRESSION ASSAYS AND GENETIC MONITORING OF NON-TARGET ORGANISMS

    Science.gov (United States)

    Widespread planting of genetically modified crops with the Bt transgene pesticide has led to concern over non-target effects of Bt compounds in agroecosystems. While some research suggests that non-target organisms exposed to Bt toxin exhibit reduced fecundity and increased morta...

  16. How Much Should We Involve Genetic and Environmental Factors in the Risk Assessment of Mycotoxins in Humans?

    Directory of Open Access Journals (Sweden)

    Maria Rosaria Carratu

    2005-04-01

    Full Text Available Despite consented efforts in prevention, mycotoxins remain a problem of human health concern in several parts of the world including developed countries. Within the same range of toxins concentrations in the blood some people develop a disease while others do not. Could this inequality in front of mycotoxins effects be explained by environment factors and/or genetic predisposition? Among recent advances in environmental health research Correlation between chronic diseases and mycotoxins in humans deserves attention through several questions: Are genetic factors involved in disease causation of mycotoxins? How much are these factors currently taken into account for mycotoxins risk assessment and how much should we involve them? Answers are still to come. Genetic and environment factors deserve therefore more attention when dealing with regulatory limits, since among the general population, those who are at risk and will develop specific diseases are likely those bearing genetic predispositions. We have addressed these questions for the specific case of ochratoxin A in humans by investigating in Tunisia, county of Jelma, in four rural families forming a household of 21 persons all exposed to ochratoxin A in diet. Our results confirm that ochratoxin A induces chronic tubular nephropathy in humans and mainly point at those having the HLA haplotype A3, B27/35, DR7 to be more sensitive to the disease for quantitatively similar or lower exposure. Persons with such haplotype were found to bear chronic interstitial nephropathy with tubular karyomegalic cells while others were apparently healthy. Godin et al. (1996 in France have also found in sibling (a sister and her brother from urban area that have similar HLA haplotype B35-patern, OTA-related renal tubulopathy with mild proteinuria including β2-microglobulinuria. Several mechanisms are discussed that could be put ahead to explain how the HLA haplotype could lead to tubular cells lyses and

  17. Avaliação de risco dos organismos geneticamente modificados Risk assessment of genetically modified organisms

    Directory of Open Access Journals (Sweden)

    Thadeu Estevam Moreira Maramaldo Costa

    2011-01-01

    Full Text Available Desde o começo de sua comercialização, em 1996, a área global de plantações transgênicas aumentou mais de cinquenta vezes. Nas duas últimas décadas, organizações governamentais e intergovernamentais têm planejado estratégias e protocolos para o estudo da segurança de alimentos derivados de cultivos geneticamente modificados. Os testes de segurança são realizados caso a caso e conduzidos de acordo com as características específicas das culturas modificadas e as mudanças introduzidas através da modificação genética, levando em conta o conceito de equivalência substancial. No presente trabalho, estão relatadas algumas abordagens de avaliação de risco de alimentos geneticamente modificados, assim como alguns problemas relacionados à construção genética ou mesmo à expressão do gene inseridoSince the commercial approve in 1996, the global area of transgenic crops has raised more than 50 times. In the last two decades, governments have been planning strategies and protocols for safety assessment of food and feed genetically modified (GM. Evaluation of food safety should be taken on a case-by-case analysis depending on the specific traits of the modified crops and the changes introduced by the genetic modification, using for this the concept of substantial equivalence. This work presents approaches for the risk assessment of GM food, as well as some problems related with the genetic construction or even with the expression of the inserted gene

  18. Quantitative Assessment of the Association between Genetic Variants in MicroRNAs and Colorectal Cancer Risk

    Directory of Open Access Journals (Sweden)

    Xiao-Xu Liu

    2015-01-01

    Full Text Available Background. The associations between polymorphisms in microRNAs and the susceptibility of colorectal cancer (CRC were inconsistent in previous studies. This study aims to quantify the strength of the correlation between the four common polymorphisms among microRNAs (hsa-mir-146a rs2910164, hsa-mir-149 rs2292832, hsa-mir-196a2 rs11614913, and hsa-mir-499 rs3746444 and CRC risk. Methods. We searched PubMed, Web of Knowledge, and CNKI to find relevant studies. The combined odds ratio (OR with 95% confidence interval (95% CI was used to estimate the strength of the association in a fixed or random effect model. Results. 15 studies involving 5,486 CRC patients and 7,184 controls were included. Meta-analyses showed that rs3746444 had association with CRC risk in Caucasians (OR = 0.57, 95% CI = 0.34–0.95. In the subgroup analysis, we found significant associations between rs2910164 and CRC in hospital based studies (OR = 1.24, 95% CI = 1.03–1.49. rs2292832 may be a high risk factor of CRC in population based studied (OR = 1.18, 95% CI = 1.08–1.38. Conclusion. This meta-analysis showed that rs2910164 and rs2292832 may increase the risk of CRC. However, rs11614913 polymorphism may reduce the risk of CRC. rs3746444 may have a decreased risk to CRC in Caucasians.

  19. Project 6: Cumulative Risk Assessment Methods and Applications: Task 6.3. Applying Genetic and Epigenetic Data to Inform Susceptibility

    Science.gov (United States)

    Susceptibility is defined by the NRC (2009) as the capacity to be affected. A person can be at greater or less risk relative to population median risk because of susceptibility factors such as life stage, sex, genetics, socioeconomic status, prior exposure to chemicals, and non-c...

  20. A statistical simulation model for fiels testing of non-target organisms in environmental risk assessment of genetically modified plants

    NARCIS (Netherlands)

    Goedhart, P.W.; Voet, van der H.; Baldacchino, F.; Arpaia, S.

    2014-01-01

    Genetic modification of plants may result in unintended effects causing potentially adverse effects on the environment. A comparative safety assessment is therefore required by authorities, such as the European Food Safety Authority, in which the genetically modified plant is compared with its conve

  1. Use of latent class models to accommodate inter-laboratory variation in assessing genetic polymorphisms associated with disease risk

    Directory of Open Access Journals (Sweden)

    Walter Stephen D

    2008-08-01

    Full Text Available Abstract Background Researchers wanting to study the association of genetic factors with disease may encounter variability in the laboratory methods used to establish genotypes or other traits. Such variability leads to uncertainty in determining the strength of a genotype as a risk factor. This problem is illustrated using data from a case-control study of cervical cancer in which some subjects were independently assessed by different laboratories for the presence of a genetic polymorphism. Inter-laboratory agreement was only moderate, which led to a very wide range of empirical odds ratios (ORs with the disease, depending on how disagreements were treated. This paper illustrates the use of latent class models (LCMs and to estimate OR while taking laboratory accuracy into account. Possible LCMs are characterised in terms of the number of laboratory measurements available, and if their error rates are assumed to be differential or non-differential by disease status and/or laboratory. Results The LCM results give maximum likelihood estimates of laboratory accuracy rates and the OR of the genetic variable and disease, and avoid the ambiguities of the empirical results. Having allowed for possible measurement error in the expure, the LCM estimates of exposure – disease associations are typically stronger than their empirical equivalents. Also the LCM estimates exploit all the available data, and hence have relatively low standard errors. Conclusion Our approach provides a way to evaluate the association of a polymorphism with disease, while taking laboratory measurement error into account. Ambiguities in the empirical data arising from disagreements between laboratories are avoided, and the estimated polymorphism-disease association is typically enhanced.

  2. Quantitative assessment of common genetic variants on FOXE1 and differentiated thyroid cancer risk.

    Directory of Open Access Journals (Sweden)

    Hongling Zhu

    Full Text Available Forkhead box E1 encodes the transcription factor FOXE1 (or TTF-2, which together with Homeobox protein NKX2-1, PAX8 and HHEX, are pivotal proteins required for thyroid gland formation, differentiation and function. Recently, genome-wide association studies have identified FOXE1 as a thyroid cancer (TC susceptibility gene in populations of European descent. After that, a number of studies reported that the rs965513, rs1867277, and rs71369530 polymorphism in FOXE1 has been implicated in TC risk. However, the causal variants remain unknown. To derive a more precise estimation of the relationship, a meta-analysis of 9,828 TC cases and 109,995 controls from 14 case-control studies was performed. Overall, significant results were observed for rs965513 (OR=1.71, 95% CI: 1.59-1.85, P<10(-5, rs1867277 (OR=1.64, 95% CI: 1.51-1.78, P<10(-5 and rs71369530 (OR=2.01, 95% CI: 1.66-2.44, P<10(-5 polymorphism. In the subgroup analysis by ethnicity, we found that rs965513 polymorphism confer high risk for Caucasians with per-allele OR of 1.80 (95% CI: 1.69-1.92, P<10(-5 compared to East Asians of 1.35 (95% CI: 1.09-1.67, P=0.006. There was strong evidence of heterogeneity, which largely disappeared after stratification by ethnicity. In the subgroup analysis by sample size, and study design, significantly increased risks were found for the polymorphism. In conclusion, this meta-analysis demonstrated that common variations of FOXE1 are a risk factor associated with increased TC susceptibility.

  3. The release of genetically modified crops into the environment - Part II. Overview of ecological risk assessment

    NARCIS (Netherlands)

    Conner, A.J.; Glare, T.R.; Nap, J.P.H.

    2003-01-01

    Despite numerous future promises, there is a multitude of concerns about the impact of GM crops on the environment. Key issues in the environmental assessment of GM crops are putative invasiveness, vertical or horizontal gene flow, other ecological impacts, effects on biodiversity and the impact of

  4. Selection of focal earthworm species as non-target soil organisms for environmental risk assessment of genetically modified plants.

    Science.gov (United States)

    van Capelle, Christine; Schrader, Stefan; Arpaia, Salvatore

    2016-04-01

    By means of a literature survey, earthworm species of significant relevance for soil functions in different biogeographical regions of Europe (Atlantic, Boreal, Mediterranean) were identified. These focal earthworm species, defined here according to the EFSA Guidance Document on the environmental risk assessment (ERA) of genetically modified plants, are typical for arable soils under crop rotations with maize and/or potatoes within the three regions represented by Ireland, Sweden and Spain, respectively. Focal earthworm species were selected following a matrix of four steps: Identification of functional groups, categorization of non-target species, ranking species on ecological criteria, and final selection of focal species. They are recommended as appropriate non-target organisms to assess environmental risks of genetically modified (GM) crops; in this case maize and potatoes. In total, 44 literature sources on earthworms in arable cropping systems including maize or potato from Ireland, Sweden and Spain were collected, which present information on species diversity, individual density and specific relevance for soil functions. By means of condensed literature data, those species were identified which (i) play an important functional role in respective soil systems, (ii) are well adapted to the biogeographical regions, (iii) are expected to occur in high abundances under cultivation of maize or potato and (iv) fulfill the requirements for an ERA test system based on life-history traits. First, primary and secondary decomposers were identified as functional groups being exposed to the GM crops. In a second step, anecic and endogeic species were categorized as potential species. In step three, eight anecic and endogeic earthworm species belonging to the family Lumbricidae were ranked as relevant species: Aporrectodea caliginosa, Aporrectodea rosea, Aporrectodea longa, Allolobophora chlorotica, Lumbricus terrestris, Lumbricus friendi, Octodrilus complanatus and

  5. Practical Approaches to Risk Assessment

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    The importance of using risk assessment in developing foodregulations is growing with the globalization of our food supply. The World Trade Organization has entrenched the principles of science-based risk assessment in the Agreement on Sanitary and Phytosanitary Measures. The relevant international organization for food standards, the Codex Alimentarius Commission, recognises risk analysis, and its component parts risk assessment, risk management and risk communication, as the basis for scientific decision-making. Risk assessment comprises two activities: hazard evaluation; and exposure estimation. A hazard may be chemical, microbiological or nutritional in origin. The practical application of risk assessment in Australia is illustrated in this presentation by four examples involving: (1) food additives, (2) microbiological safety of imported raw milk cheeses, (3) genetically modified foods and (4) imported food inspection.

  6. Practical Approaches to Risk Assessment

    Institute of Scientific and Technical Information of China (English)

    SIMONBROOKE-TAYLOR

    2001-01-01

    The importance of using risk assessment in developing food regulations is growing with the globalization of our food supple,The World Trade Oranization has entrenched the principles of science-based risk assessment in the Agreement on Sanitary and Phytosanitary Measures.The relevant international organization for food standards,the Codex Alimentarius Commission,recognises risk analysis,and its component parts risk assessment,risk management and risk communication as the basis for scientific decision-making,Risk assessment comprises two activities:hazard evaluation;and exposure estimation.A hazard may be chemical,microbiological or nutritional in origin,The practical application of risk assessment in Australia is illustrated in this presentation y four examples involving:(1) food additives,(2) microiological safety of imported raw milk cheeses,(3) genetically modified foods and (4) imported food inspection.

  7. Assessment of the clinical utility of adding common single nucleotide polymorphism genetic scores to classical risk factor algorithms in coronary heart disease risk prediction in UK men.

    Science.gov (United States)

    Beaney, Katherine E; Cooper, Jackie A; Drenos, Fotios; Humphries, Steve E

    2017-08-28

    Risk prediction algorithms for coronary heart disease (CHD) are recommended for clinical use. However, their predictive ability remains modest and the inclusion of genetic risk may improve their performance. QRISK2 was used to assess CHD risk using conventional risk factors (CRFs). The performance of a 19 single nucleotide polymorphism (SNP) gene score (GS) for CHD including variants identified by genome-wide association study and candidate gene studies (weighted using the results from the CARDIoGRAMplusC4D meta-analysis) was assessed using the second Northwick Park Heart Study (NPHSII) of 2775 healthy UK men (284 cases). To improve the GS, five SNPs with weak evidence of an association with CHD were removed and replaced with seven robustly associated SNPs - giving a 21-SNP GS. The weighted 19 SNP GS was associated with lipid traits (p<0.05) and CHD after adjustment for CRFs, (OR=1.31 per standard deviation, p=0.03). Addition of the 19 SNP GS to QRISK2 showed improved discrimination (area under the receiver operator characteristic curve 0.68 vs. 0.70 p=0.02), a positive net reclassification index (0.07, p=0.04) compared to QRISK2 alone and maintained good calibration (p=0.17). The 21-SNP GS was also associated with CHD after adjustment for CRFs (OR=1.39 per standard deviation, 1.42×10-3), but the combined QRISK2 plus GS score was poorly calibrated (p=0.03) and showed no improvement in discrimination (p=0.55) or reclassification (p=0.10) compared to QRISK2 alone. The 19-SNP GS is robustly associated with CHD and showed potential clinical utility in the UK population.

  8. Risk assessment of genetically engineered crops: fitness effects of virus-resistance transgenes in wild Cucurbita pepo.

    Science.gov (United States)

    Laughlin, Karen D; Power, Alison G; Snow, Allison A; Spencer, Lawrence J

    2009-07-01

    extent, conventionally bred squash would increase C. pepo fecundity. Studies such as this one, in combination with documentation of the probability of crop-to-wild gene flow and surveys of virus incidence in wild populations, can provide a solid basis for environmental risk assessments of crops genetically engineered for virus resistance.

  9. Transportability of confined field trial data from cultivation to import countries for environmental risk assessment of genetically modified crops.

    Science.gov (United States)

    Nakai, Shuichi; Hoshikawa, Kana; Shimono, Ayako; Ohsawa, Ryo

    2015-12-01

    Requirement of in-country confined field trials for genetically modified (GM) crops prior to unrestricted release is well-established among countries with domestic regulations for the cultivation approval of GM crops. However, the requirement of in-country confined field trials is not common in countries where the scope of the application does not include cultivation. Nonetheless, Japan and China request in-country confined field trials for GM crops which are intended only for use as food, feed and processing. This paper considers the transportability of confined field trial data from cultivation countries (e.g. United States, Canada, and South American countries) to import countries like Japan for the environmental risk assessment of GM crops by reviewing: (1) the purpose of confined field trial assessment, (2) weediness potential, defined as "an ability to establish and persist in an unmanaged area that is frequently disturbed by human activity", of host crops, and (3) reliability of the confined field trial data obtained from cultivation countries. To review the reliability of the confined field data obtained in the US, this paper describes actual examples of three confined field trials of approved GM corn events conducted both in the US and Japan. Based on the above considerations, this paper concludes that confined field data of GM corn and cotton is transportable from cultivation countries to importing countries (e.g. from the US to Japan), regardless of the characteristics of the inserted gene(s). In addition, this paper advocates harmonization of protocols for confined field trials to facilitate more efficient data transportability across different geographies.

  10. EFSA's scientific activities and achievements on the risk assessment of genetically modified organisms (GMOs) during its first decade of existence: looking back and ahead.

    Science.gov (United States)

    Devos, Yann; Aguilera, Jaime; Diveki, Zoltán; Gomes, Ana; Liu, Yi; Paoletti, Claudia; du Jardin, Patrick; Herman, Lieve; Perry, Joe N; Waigmann, Elisabeth

    2014-02-01

    Genetically modified organisms (GMOs) and derived food and feed products are subject to a risk analysis and regulatory approval before they can enter the market in the European Union (EU). In this risk analysis process, the role of the European Food Safety Authority (EFSA), which was created in 2002 in response to multiple food crises, is to independently assess and provide scientific advice to risk managers on any possible risks that the use of GMOs may pose to human and animal health and the environment. EFSA's scientific advice is elaborated by its GMO Panel with the scientific support of several working groups and EFSA's GMO Unit. This review presents EFSA's scientific activities and highlights its achievements on the risk assessment of GMOs for the first 10 years of its existence. Since 2002, EFSA has issued 69 scientific opinions on genetically modified (GM) plant market registration applications, of which 62 for import and processing for food and feed uses, six for cultivation and one for the use of pollen (as or in food), and 19 scientific opinions on applications for marketing products made with GM microorganisms. Several guidelines for the risk assessment of GM plants, GM microorganisms and GM animals, as well as on specific issues such as post-market environmental monitoring (PMEM) were elaborated. EFSA also provided scientific advice upon request of the European Commission on safeguard clause and emergency measures invoked by EU Member States, annual PMEM reports, the potential risks of new biotechnology-based plant breeding techniques, evaluations of previously assessed GMOs in the light of new scientific publications, and the use of antibiotic resistance marker genes in GM plants. Future challenges relevant to the risk assessment of GMOs are discussed. EFSA's risk assessments of GMO applications ensure that data are analysed and presented in a way that facilitates scientifically sound decisions that protect human and animal health and the environment.

  11. Integrating mechanistic and polymorphism data to characterize human genetic susceptibility for environmental chemical risk assessment in the 21st century

    Science.gov (United States)

    Response to environmental chemicals can vary widely among individuals and between population groups. In human health risk assessment, data on susceptibility can be utilized by deriving risk levels based on a study of a susceptible population and/or an uncertainty factor may be ap...

  12. Genetic testing and risk interpretation

    Directory of Open Access Journals (Sweden)

    Talya Miron-Shatz

    2010-04-01

    Full Text Available Genetic screening for BRCA1 and BRCA2 gives women the opportunity for early detection, surveillance, and intervention. One key feature of genetic testing and counseling is the provision of personal lifetime risk. However, little attention has been paid to how women interpret lifetime risk information, despite the fact that they base screening, treatment and family planning decisions on such information. To study this vital issue, we set out to test the ability of women to choose the most appropriate interpretation of National Cancer Institute's (NCI message about lifetime risk of developing cancer for a woman with altered BRCA1 and BRCA2 genes. Participants included 277 women who had not undergone genetic testing or had cancer and 207 women who had undergone genetic testing or had cancer. Over 50\\% of the women who had not undergone genetic testing or had cancer and 40\\% of those who had undergone genetic testing or had cancer misunderstood NCI's information. Furthermore, in line with a growing body of research, we found that high numeracy level (objective or subjective is positively associated with a woman's ability to correctly interpret NCI's message.

  13. Pipeline risk assessment

    Energy Technology Data Exchange (ETDEWEB)

    Kariyawasam, S. [TransCanada PipeLines Ltd., Calgary, AB (Canada); Weir, D. [Enbridge Pipelines Inc., Calgary, AB (Canada)] (comps.)

    2009-07-01

    Risk assessments and risk analysis are system-wide activities that include site-specific risk and reliability-based decision-making, implementation, and monitoring. This working group discussed the risk management process in the pipeline industry, including reliability-based integrity management and risk control processes. Attendants at the group discussed reliability-based decision support and performance measurements designed to support corporate risk management policies. New developments and technologies designed to optimize risk management procedures were also presented. The group was divided into 3 sessions: (1) current practice, strengths and limitations of system-wide risk assessments for facility assets; (2) accounting for uncertainties to assure safety; and (3) reliability based excavation repair criteria and removing potentially unsafe corrosion defects. Presentations of risk assessment procedures used at various companies were given. The role of regulators, best practices, and effective networking environments in ensuring the success of risk assessment policies was discussed. Risk assessment models were also reviewed.

  14. Scientific Opinion supplementing the conclusions of the environmental risk assessment and risk management recommendations on the genetically modified insect resistant maize 1507 for cultivation

    Directory of Open Access Journals (Sweden)

    EFSA Panel on Genetically Modified Organisms (GMO

    2012-11-01

    Full Text Available The EFSA GMO Panel was asked by the European Commission to apply its mathematical model to simulate and assess potential adverse effects resulting from the exposure of non-target Lepidoptera to maize 1507 pollen under hypothetical agricultural conditions, and to provide information on the factors affecting the insect resistance management plan, additional to that in its 2011 Scientific Opinion updating the conclusions of the environmental risk assessment and risk management recommendations on maize 1507. Here, risk managers are provided with additional evidence and further clarifications to those previous conclusions and risk management recommendations. This Scientific Opinion provides background scientific information to inform the decision-making processes; the EFSA GMO Panel reiterates that risk managers should choose risk mitigation and management measures that are proportionate to the level of identified risk according to the protection goals pertaining to their regions.

  15. Scientific Opinion supplementing the conclusions of the environmental risk assessment and risk management recommendations for the cultivation of the genetically modified insect resistant maize Bt11 and MON 810

    Directory of Open Access Journals (Sweden)

    EFSA Panel on Genetically Modified Organisms (GMO

    2012-12-01

    Full Text Available The EFSA GMO Panel was asked by the European Commission to apply its mathematical model to simulate and assess potential adverse effects resulting from the exposure of non-target Lepidoptera to maize Bt11 or MON 810 pollen under hypothetical agricultural conditions, and to provide information on the factors affecting the insect resistance management plan, additional to that in its 2011 Statement supplementing the evaluation of the environmental risk assessment and risk management recommendations on insect resistant genetically modified maize Bt11 for cultivation. Here, risk managers are provided with additional evidence and further clarifications to those previous conclusions and risk management recommendations. This Scientific Opinion provides background scientific information to inform the decision-making process; the EFSA GMO Panel reiterates that risk managers should choose risk mitigation and management measures that are proportionate to the level of identified risk according to the protection goals pertaining to their regions.

  16. Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score.

    Directory of Open Access Journals (Sweden)

    Rahul S Desikan

    2017-03-01

    Full Text Available Identifying individuals at risk for developing Alzheimer disease (AD is of utmost importance. Although genetic studies have identified AD-associated SNPs in APOE and other genes, genetic information has not been integrated into an epidemiological framework for risk prediction.Using genotype data from 17,008 AD cases and 37,154 controls from the International Genomics of Alzheimer's Project (IGAP Stage 1, we identified AD-associated SNPs (at p < 10-5. We then integrated these AD-associated SNPs into a Cox proportional hazard model using genotype data from a subset of 6,409 AD patients and 9,386 older controls from Phase 1 of the Alzheimer's Disease Genetics Consortium (ADGC, providing a polygenic hazard score (PHS for each participant. By combining population-based incidence rates and the genotype-derived PHS for each individual, we derived estimates of instantaneous risk for developing AD, based on genotype and age, and tested replication in multiple independent cohorts (ADGC Phase 2, National Institute on Aging Alzheimer's Disease Center [NIA ADC], and Alzheimer's Disease Neuroimaging Initiative [ADNI], total n = 20,680. Within the ADGC Phase 1 cohort, individuals in the highest PHS quartile developed AD at a considerably lower age and had the highest yearly AD incidence rate. Among APOE ε3/3 individuals, the PHS modified expected age of AD onset by more than 10 y between the lowest and highest deciles (hazard ratio 3.34, 95% CI 2.62-4.24, p = 1.0 × 10-22. In independent cohorts, the PHS strongly predicted empirical age of AD onset (ADGC Phase 2, r = 0.90, p = 1.1 × 10-26 and longitudinal progression from normal aging to AD (NIA ADC, Cochran-Armitage trend test, p = 1.5 × 10-10, and was associated with neuropathology (NIA ADC, Braak stage of neurofibrillary tangles, p = 3.9 × 10-6, and Consortium to Establish a Registry for Alzheimer's Disease score for neuritic plaques, p = 6.8 × 10-6 and in vivo markers of AD neurodegeneration (ADNI

  17. Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score.

    Science.gov (United States)

    Desikan, Rahul S; Fan, Chun Chieh; Wang, Yunpeng; Schork, Andrew J; Cabral, Howard J; Cupples, L Adrienne; Thompson, Wesley K; Besser, Lilah; Kukull, Walter A; Holland, Dominic; Chen, Chi-Hua; Brewer, James B; Karow, David S; Kauppi, Karolina; Witoelar, Aree; Karch, Celeste M; Bonham, Luke W; Yokoyama, Jennifer S; Rosen, Howard J; Miller, Bruce L; Dillon, William P; Wilson, David M; Hess, Christopher P; Pericak-Vance, Margaret; Haines, Jonathan L; Farrer, Lindsay A; Mayeux, Richard; Hardy, John; Goate, Alison M; Hyman, Bradley T; Schellenberg, Gerard D; McEvoy, Linda K; Andreassen, Ole A; Dale, Anders M

    2017-03-01

    Identifying individuals at risk for developing Alzheimer disease (AD) is of utmost importance. Although genetic studies have identified AD-associated SNPs in APOE and other genes, genetic information has not been integrated into an epidemiological framework for risk prediction. Using genotype data from 17,008 AD cases and 37,154 controls from the International Genomics of Alzheimer's Project (IGAP Stage 1), we identified AD-associated SNPs (at p < 10-5). We then integrated these AD-associated SNPs into a Cox proportional hazard model using genotype data from a subset of 6,409 AD patients and 9,386 older controls from Phase 1 of the Alzheimer's Disease Genetics Consortium (ADGC), providing a polygenic hazard score (PHS) for each participant. By combining population-based incidence rates and the genotype-derived PHS for each individual, we derived estimates of instantaneous risk for developing AD, based on genotype and age, and tested replication in multiple independent cohorts (ADGC Phase 2, National Institute on Aging Alzheimer's Disease Center [NIA ADC], and Alzheimer's Disease Neuroimaging Initiative [ADNI], total n = 20,680). Within the ADGC Phase 1 cohort, individuals in the highest PHS quartile developed AD at a considerably lower age and had the highest yearly AD incidence rate. Among APOE ε3/3 individuals, the PHS modified expected age of AD onset by more than 10 y between the lowest and highest deciles (hazard ratio 3.34, 95% CI 2.62-4.24, p = 1.0 × 10-22). In independent cohorts, the PHS strongly predicted empirical age of AD onset (ADGC Phase 2, r = 0.90, p = 1.1 × 10-26) and longitudinal progression from normal aging to AD (NIA ADC, Cochran-Armitage trend test, p = 1.5 × 10-10), and was associated with neuropathology (NIA ADC, Braak stage of neurofibrillary tangles, p = 3.9 × 10-6, and Consortium to Establish a Registry for Alzheimer's Disease score for neuritic plaques, p = 6.8 × 10-6) and in vivo markers of AD neurodegeneration (ADNI, volume loss

  18. Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score

    Science.gov (United States)

    Cupples, L. Adrienne; Thompson, Wesley K.; Besser, Lilah; Kukull, Walter A.; Holland, Dominic; Chen, Chi-Hua; Brewer, James B.; Karow, David S.; Kauppi, Karolina; Bonham, Luke W.; Rosen, Howard J.; Miller, Bruce L.; Dillon, William P.; Wilson, David M.; Pericak-Vance, Margaret; Haines, Jonathan L.; Farrer, Lindsay A.; Mayeux, Richard; Hardy, John; Goate, Alison M.; Schellenberg, Gerard D.; Andreassen, Ole A.

    2017-01-01

    Background Identifying individuals at risk for developing Alzheimer disease (AD) is of utmost importance. Although genetic studies have identified AD-associated SNPs in APOE and other genes, genetic information has not been integrated into an epidemiological framework for risk prediction. Methods and findings Using genotype data from 17,008 AD cases and 37,154 controls from the International Genomics of Alzheimer’s Project (IGAP Stage 1), we identified AD-associated SNPs (at p < 10−5). We then integrated these AD-associated SNPs into a Cox proportional hazard model using genotype data from a subset of 6,409 AD patients and 9,386 older controls from Phase 1 of the Alzheimer’s Disease Genetics Consortium (ADGC), providing a polygenic hazard score (PHS) for each participant. By combining population-based incidence rates and the genotype-derived PHS for each individual, we derived estimates of instantaneous risk for developing AD, based on genotype and age, and tested replication in multiple independent cohorts (ADGC Phase 2, National Institute on Aging Alzheimer’s Disease Center [NIA ADC], and Alzheimer’s Disease Neuroimaging Initiative [ADNI], total n = 20,680). Within the ADGC Phase 1 cohort, individuals in the highest PHS quartile developed AD at a considerably lower age and had the highest yearly AD incidence rate. Among APOE ε3/3 individuals, the PHS modified expected age of AD onset by more than 10 y between the lowest and highest deciles (hazard ratio 3.34, 95% CI 2.62–4.24, p = 1.0 × 10−22). In independent cohorts, the PHS strongly predicted empirical age of AD onset (ADGC Phase 2, r = 0.90, p = 1.1 × 10−26) and longitudinal progression from normal aging to AD (NIA ADC, Cochran–Armitage trend test, p = 1.5 × 10−10), and was associated with neuropathology (NIA ADC, Braak stage of neurofibrillary tangles, p = 3.9 × 10−6, and Consortium to Establish a Registry for Alzheimer’s Disease score for neuritic plaques, p = 6.8 × 10−6) and

  19. The Genetics Panel of the NAS BEAR I Committee (1956): epistolary evidence suggests self-interest may have prompted an exaggeration of radiation risks that led to the adoption of the LNT cancer risk assessment model.

    Science.gov (United States)

    Calabrese, Edward J

    2014-09-01

    This paper extends a series of historical papers which demonstrated that the linear-no-threshold (LNT) model for cancer risk assessment was founded on ideological-based scientific deceptions by key radiation genetics leaders. Based on an assessment of recently uncovered personal correspondence, it is shown that some members of the United States (US) National Academy of Sciences (NAS) Biological Effects of Atomic Radiation I (BEAR I) Genetics Panel were motivated by self-interest to exaggerate risks to promote their science and personal/professional agenda. Such activities have profound implications for public policy and may have had a significant impact on the adoption of the LNT model for cancer risk assessment.

  20. Dupuytren diathesis and genetic risk

    NARCIS (Netherlands)

    Dolmans, Guido H; de Bock, Geertruida H; Werker, Paul M

    2012-01-01

    PURPOSE: Dupuytren disease (DD) is a benign fibrosing disorder of the hand and fingers. Recently, we identified 9 single nucleotide polymorphisms (SNPs) associated with DD in a genome-wide association study. These SNPs can be used to calculate a genetic risk score for DD. The aim of this study was

  1. Dupuytren diathesis and genetic risk

    NARCIS (Netherlands)

    Dolmans, Guido H; de Bock, Geertruida H; Werker, Paul M

    2012-01-01

    PURPOSE: Dupuytren disease (DD) is a benign fibrosing disorder of the hand and fingers. Recently, we identified 9 single nucleotide polymorphisms (SNPs) associated with DD in a genome-wide association study. These SNPs can be used to calculate a genetic risk score for DD. The aim of this study was t

  2. Assessment of cardiovascular risk.

    LENUS (Irish Health Repository)

    Cooney, Marie Therese

    2010-10-01

    Atherosclerotic cardiovascular disease (CVD) is the most common cause of death worldwide. Usually atherosclerosis is caused by the combined effects of multiple risk factors. For this reason, most guidelines on the prevention of CVD stress the assessment of total CVD risk. The most intensive risk factor modification can then be directed towards the individuals who will derive the greatest benefit. To assist the clinician in calculating the effects of these multiple interacting risk factors, a number of risk estimation systems have been developed. This review address several issues regarding total CVD risk assessment: Why should total CVD risk be assessed? What risk estimation systems are available? How well do these systems estimate risk? What are the advantages and disadvantages of the current systems? What are the current limitations of risk estimation systems and how can they be resolved? What new developments have occurred in CVD risk estimation?

  3. Genetic and environmental influences on risk of death due to infections assessed in Danish twins, 1943-2001

    DEFF Research Database (Denmark)

    Obel, Niels; Christensen, Kaare; Petersen, Inge

    2010-01-01

    Genetic differences have been proposed to play a strong role in risk of death from infectious diseases. The study base of 44,005 included all same-sex twin pairs born in 1870-2001, with both twins alive on January 1, 1943, or those born thereafter. Cause of death was obtained from the Danish Cause...... of Death Register and was available for 18,359 deaths. The authors classified death due to infections by 3 definitions (narrow, broader, and broadest) and calculated concordance rates for same-sex monozygotic and dizygotic twin pairs. Heritability was estimated by using structural equation models. When...... the 3 definitions were applied, 211 (1.1%), 1,089 (5.9%), and 2,907 (15.8%) deaths, respectively, were due to infections. The probandwise concordance rates for monozygotic twin pairs were consistently higher than for dizygotic twin pairs regardless of the definition (9% vs. 0% (P = 0.04), 10% vs. 3% (P...

  4. Understanding the Needs of Young Women Regarding Breast Cancer Risk Assessment and Genetic Testing: Convergence and Divergence among Patient-Counselor Perceptions and the Promise of Peer Support

    Directory of Open Access Journals (Sweden)

    Chalanda Evans

    2016-06-01

    Full Text Available Young women from hereditary breast and ovarian cancer (HBOC families face a series of medical decisions regarding their cancer risk management and integrating this information into their life planning. This presents unique medical and psychosocial challenges that exist without comprehensive intervention. To help lay the groundwork for intervention, we conducted a qualitative study among young women from HBOC families (N = 12; Mean age = 22 and cancer genetic counselors (N = 12 to explicate domains most critical to caring for this population. Women and counselors were interviewed by telephone. The predominant interview themes included preventative care planning and risk management, decision making around the pros and cons of cancer risk assessment, medical management, and psychosocial stresses experienced. Young women endorsed psychosocial stress significantly more frequently than did counselors. Both groups noted the short- and long-term decision making challenges and the support and conflict engendered among familial relationships. Our results suggest young women value the support they receive from their families and their genetic counselors, but additional, external supports are needed to facilitate adaptation to HBOC risk. In feedback interviews focused on intervention planning with a subset of these young women (N = 9, they endorsed the predominant interview themes discovered as important intervention content, a structure that would balance discussion of medical information and psychosocial skill-building that could be tailored to the young women’s needs, and delivery by trained peers familiar with HBOC risk.

  5. Understanding the Needs of Young Women Regarding Breast Cancer Risk Assessment and Genetic Testing: Convergence and Divergence among Patient-Counselor Perceptions and the Promise of Peer Support.

    Science.gov (United States)

    Evans, Chalanda; Hamilton, Rebekah J; Tercyak, Kenneth P; Peshkin, Beth N; Rabemananjara, Kantoniony; Isaacs, Claudine; O'Neill, Suzanne C

    2016-06-28

    Young women from hereditary breast and ovarian cancer (HBOC) families face a series of medical decisions regarding their cancer risk management and integrating this information into their life planning. This presents unique medical and psychosocial challenges that exist without comprehensive intervention. To help lay the groundwork for intervention, we conducted a qualitative study among young women from HBOC families (N = 12; Mean age = 22) and cancer genetic counselors (N = 12) to explicate domains most critical to caring for this population. Women and counselors were interviewed by telephone. The predominant interview themes included preventative care planning and risk management, decision making around the pros and cons of cancer risk assessment, medical management, and psychosocial stresses experienced. Young women endorsed psychosocial stress significantly more frequently than did counselors. Both groups noted the short- and long-term decision making challenges and the support and conflict engendered among familial relationships. Our results suggest young women value the support they receive from their families and their genetic counselors, but additional, external supports are needed to facilitate adaptation to HBOC risk. In feedback interviews focused on intervention planning with a subset of these young women (N = 9), they endorsed the predominant interview themes discovered as important intervention content, a structure that would balance discussion of medical information and psychosocial skill-building that could be tailored to the young women's needs, and delivery by trained peers familiar with HBOC risk.

  6. Metabolic Interactions of Purine Derivatives with Human ABC Transporter ABCG2: Genetic Testing to Assess Gout Risk

    Directory of Open Access Journals (Sweden)

    Kiyoko Kaneko

    2013-11-01

    Full Text Available In mammals, excess purine nucleosides are removed from the body by breakdown in the liver and excretion from the kidneys. Uric acid is the end product of purine metabolism in humans. Two-thirds of uric acid in the human body is normally excreted through the kidney, whereas one-third undergoes uricolysis (decomposition of uric acid in the gut. Elevated serum uric acid levels result in gout and could be a risk factor for cardiovascular disease and diabetes. Recent studies have shown that human ATP-binding cassette transporter ABCG2 plays a role of renal excretion of uric acid. Two non-synonymous single nucleotide polymorphisms (SNPs, i.e., 421C>A (major and 376C>T (minor, in the ABCG2 gene result in impaired transport activity, owing to ubiquitination-mediated proteosomal degradation and truncation of ABCG2, respectively. These genetic polymorphisms are associated with hyperuricemia and gout. Allele frequencies of those SNPs are significantly higher in Asian populations than they are in African and Caucasian populations. A rapid and isothermal genotyping method has been developed to detect the SNP 421C>A, where one drop of peripheral blood is sufficient for the detection. Development of simple genotyping methods would serve to improve prevention and early therapeutic intervention for high-risk individuals in personalized healthcare.

  7. The Genetics of Cancer Risk

    OpenAIRE

    Pomerantz, Mark M.; Freedman, Matthew L.

    2011-01-01

    One hundred years ago, decades prior to the discovery of the structure of DNA, debate raged regarding how human traits were passed from one generation to the next. Phenotypes, including risk of disease, had long been recognized as having a familial component. Yet it was difficult to reconcile genetic segregation as described by Mendel with observations exhaustively documented by Karl Pearson and others regarding the normal distribution of human characteristics. In 1918, RA Fisher published hi...

  8. Quantitative microbiological risk assessment.

    Science.gov (United States)

    Hoornstra, E; Notermans, S

    2001-05-21

    The production of safe food is being increasingly based on the use of risk analysis, and this process is now in use to establish national and international food safety objectives. It is also being used more frequently to guarantee that safety objectives are met and that such guarantees are achieved in a cost-effective manner. One part of the overall risk analysis procedure-risk assessment-is the scientific process in which the hazards and risk factors are identified, and the risk estimate or risk profile is determined. Risk assessment is an especially important tool for governments when food safety objectives have to be developed in the case of 'new' contaminants in known products or known contaminants causing trouble in 'new' products. Risk assessment is also an important approach for food companies (i) during product development, (ii) during (hygienic) process optimalization, and (iii) as an extension (validation) of the more qualitative HACCP-plan. This paper discusses these two different types of risk assessment, and uses probability distribution functions to assess the risks posed by Escherichia coli O157:H7 in each case. Such approaches are essential elements of risk management, as they draw on all available information to derive accurate and realistic estimations of the risk posed. The paper also discusses the potential of scenario-analysis in simulating the impact of different or modified risk factors during the consideration of new or improved control measures.

  9. Building better environmental risk assessments

    Directory of Open Access Journals (Sweden)

    Raymond eLayton

    2015-08-01

    Full Text Available Risk assessment is a reasoned, structured approach to address uncertainty based on scientific and technical evidence. It forms the foundation for regulatory decision making, which is bound by legislative and policy requirements, as well as the need for making timely decisions using available resources. In order to be most useful, environmental risk assessments (ERA for genetically modified (GM crops should provide consistent, reliable, and transparent results across all types of GM crops, traits, and environments. The assessments must also separate essential information from scientific or agronomic data of marginal relevance or value for evaluating risk and complete the assessment in a timely fashion. Challenges in conducting ERAs differ across regulatory systems – examples are presented from Canada, Malaysia, and Argentina. One challenge faced across the globe is the conduct of risk assessments with limited resources. This challenge can be overcome by clarifying risk concepts, placing greater emphasis on data critical to assess environmental risk (for example, phenotypic and plant performance data rather than molecular data, and adapting advances in risk analysis from other relevant disciplines.

  10. Risk Assessment Overview

    Science.gov (United States)

    Prassinos, Peter G.; Lyver, John W., IV; Bui, Chinh T.

    2011-01-01

    Risk assessment is used in many industries to identify and manage risks. Initially developed for use on aeronautical and nuclear systems, risk assessment has been applied to transportation, chemical, computer, financial, and security systems among others. It is used to gain an understanding of the weaknesses or vulnerabilities in a system so modification can be made to increase operability, efficiency, and safety and to reduce failure and down-time. Risk assessment results are primary inputs to risk-informed decision making; where risk information including uncertainty is used along with other pertinent information to assist management in the decision-making process. Therefore, to be useful, a risk assessment must be directed at specific objectives. As the world embraces the globalization of trade and manufacturing, understanding the associated risk become important to decision making. Applying risk assessment techniques to a global system of development, manufacturing, and transportation can provide insight into how the system can fail, the likelihood of system failure and the consequences of system failure. The risk assessment can identify those elements that contribute most to risk and identify measures to prevent and mitigate failures, disruptions, and damaging outcomes. In addition, risk associated with public and environment impact can be identified. The risk insights gained can be applied to making decisions concerning suitable development and manufacturing locations, supply chains, and transportation strategies. While risk assessment has been mostly applied to mechanical and electrical systems, the concepts and techniques can be applied across other systems and activities. This paper provides a basic overview of the development of a risk assessment.

  11. Biosafety Risk Assessment Methodology

    Energy Technology Data Exchange (ETDEWEB)

    Caskey, Susan Adele [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States). International Biological Threat Reduction Program; Gaudioso, Jennifer M. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States). International Biological Threat Reduction Program; Salerno, Reynolds Mathewson [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States). International Biological Threat Reduction Program; Wagner, Stefan M. [Public Health Agency of Canada, Winnipeg, MB (Canada). Canadian Science Centre for Human and Animal Health (CSCHAH); Shigematsu, Mika [National Inst. of Infectious Diseases (NIID), Tokyo (Japan); Risi, George [Infectious Disease Specialists, P.C, Missoula, MT (United States); Kozlovac, Joe [US Dept. of Agriculture (USDA)., Beltsville, MD (United States); Halkjaer-Knudsen, Vibeke [Statens Serum Inst., Copenhagen (Denmark); Prat, Esmeralda [Bayer CropScience, Monheim am Rhein (Germany)

    2010-10-01

    Laboratories that work with biological agents need to manage their safety risks to persons working the laboratories and the human and animal community in the surrounding areas. Biosafety guidance defines a wide variety of biosafety risk mitigation measures, which include measures which fall under the following categories: engineering controls, procedural and administrative controls, and the use of personal protective equipment; the determination of which mitigation measures should be used to address the specific laboratory risks are dependent upon a risk assessment. Ideally, a risk assessment should be conducted in a manner which is standardized and systematic which allows it to be repeatable and comparable. A risk assessment should clearly define the risk being assessed and avoid over complication.

  12. Offshore risk assessment

    CERN Document Server

    Vinnem, Jan-Erik

    2014-01-01

      Offshore Risk Assessment was the first book to deal with quantified risk assessment (QRA) as applied specifically to offshore installations and operations. Risk assessment techniques have been used for more than three decades in the offshore oil and gas industry, and their use is set to expand increasingly as the industry moves into new areas and faces new challenges in older regions.   This updated and expanded third edition has been informed by a major R&D program on offshore risk assessment in Norway and summarizes research from 2006 to the present day. Rooted with a thorough discussion of risk metrics and risk analysis methodology,  subsequent chapters are devoted to analytical approaches to escalation, escape, evacuation and rescue analysis of safety and emergency systems.   Separate chapters analyze the main hazards of offshore structures: fire, explosion, collision, and falling objects as well as structural and marine hazards. Risk mitigation and control are discussed, as well as an illustrat...

  13. Genetic counseling for sex chromosome anomalies (SCAs) in Israel and Germany: assessing medical risks according to the importance of fertility in two cultures.

    Science.gov (United States)

    Hashiloni-Dolev, Yael

    2006-12-01

    In this article, I report findings from a comparative study of Israeli and German genetic counselors. Specifically, it concerns counselors' attitudes and risk assessments relating to prenatal diagnosis of sex chromosome anomalies (SCAs) such as Klinefelter and Turner syndromes. Data collected through in-depth interviews with counselors in both countries (N = 32) are presented, and the types of claims experts deploy in their personal and professional estimation of the risks involved in SCAs are analyzed. The article concludes by suggesting that the counselors rhetoric concerning SCAs, whose major manifestation is the future infertility of the unborn child as well as their estimations of the related risks, should be situated in a broader cultural context, that of local Israeli and German understandings of the importance of fertility, and not in their professional nondirective ethos. Hence, to understand the practice of genetic counselors in two late-modern societies, one must understand the unique relationship between the individual bodies of pregnant women and the body politics of their nations, a relationship mediated by the counselors, who are the bearers of knowledge and expertise in this field.

  14. Landslide risk assessment

    Science.gov (United States)

    Lessing, P.; Messina, C.P.; Fonner, R.F.

    1983-01-01

    Landslide risk can be assessed by evaluating geological conditions associated with past events. A sample of 2,4 16 slides from urban areas in West Virginia, each with 12 associated geological factors, has been analyzed using SAS computer methods. In addition, selected data have been normalized to account for areal distribution of rock formations, soil series, and slope percents. Final calculations yield landslide risk assessments of 1.50=high risk. The simplicity of the method provides for a rapid, initial assessment prior to financial investment. However, it does not replace on-site investigations, nor excuse poor construction. ?? 1983 Springer-Verlag New York Inc.

  15. Patient caries risk assessment

    DEFF Research Database (Denmark)

    Twetman, Svante; Fontana, Margherita

    2009-01-01

    Risk assessment is an essential component in the decision-making process for the correct prevention and management of dental caries. Multiple risk factors and indicators have been proposed as targets in the assessment of risk of future disease, varying sometimes based on the age group at which...... for prediction purposes, as measured until now in the literature, is at best questionable in schoolchildren, adolescents and adults. That is not to say these additional factors should not be assessed to help understand the strength of their associations with the disease experience in a particular patient......, and aid in the development of an individualized and targeted preventive and management plan....

  16. SERDP CU-1129 Biological Assessment for Characterizing Contamination Risk at the Genetic-, Individual-, and Population-Level

    Science.gov (United States)

    2004-04-14

    amphipod. Environ. Tox. Chem. 18, 1783-1790. Hagan, C.R., Rudin, C.M. (2002). Mobile genetic element activation and genotoxic cancer therapy : potential...Mol. Gen. Genet. 257, 497-504 (1998). 13. Arkhipova, I.R., & Morrison, H.G. Three retrotransposon families in the genome of Giardia lamblia: two

  17. A cluster-randomised, parallel group, controlled intervention study of genetic prostate cancer risk assessment and use of PSA tests in general practice--the ProCaRis study: study protocol.

    Science.gov (United States)

    Kirkegaard, Pia; Vedsted, Peter; Edwards, Adrian; Fenger-Grøn, Morten; Bro, Flemming

    2013-03-01

    Unsystematic screening for prostate cancer (PCa) is common, causing a high number of false-positive results. Valid instruments for assessment of individual risk of PCa have been called for. A DNA-based genetic test has been tested retrospectively. The clinical use of this test needs further investigation. The primary objective is to evaluate the impact on the use of prostate-specific antigen (PSA) tests of introducing genetic PCa risk assessment in general practice. The secondary objectives are to evaluate PCa-related patient experiences, and to explore sociocultural aspects of genetic risk assessment in patients at high PCa risk. The study is a cluster-randomised, controlled intervention study with practice as the unit of randomisation. We expect 140 practices to accept participation and include a total of 1244 patients in 4 months. Patients requesting a PSA test in the intervention group practices will be offered a genetic PCa risk assessment. Patients requesting a PSA test in the control group practices will be handled according to current guidelines. Data will be collected from registers, patient questionnaires and interviews. Quantitative data will be analysed according to intention-to-treat principles. Baseline characteristics will be compared between groups. Longitudinal analyses will include time in risk, and multivariable analysis will be conducted to evaluate the influence of general practitioner and patient-specific variables on future PSA testing. Interview data will be transcribed verbatim and analysed from a social-constructivist perspective. Consent will be obtained from patients who can withdraw from the study at any time. The study provides data to the ongoing conceptual and ethical discussions about genetic risk assessment and classification of low-risk and high-risk individuals. The intervention model might be applicable to other screening areas regarding risk of cancer with identified genetic components, for example, colon cancer. The study is

  18. A cluster-randomised, parallel group, controlled intervention study of genetic prostate cancer risk assessment and use of PSA tests in general practice—the ProCaRis study: study protocol

    Science.gov (United States)

    Kirkegaard, Pia; Vedsted, Peter; Edwards, Adrian; Fenger-Grøn, Morten; Bro, Flemming

    2013-01-01

    Introduction Unsystematic screening for prostate cancer (PCa) is common, causing a high number of false-positive results. Valid instruments for assessment of individual risk of PCa have been called for. A DNA-based genetic test has been tested retrospectively. The clinical use of this test needs further investigation. The primary objective is to evaluate the impact on the use of prostate-specific antigen (PSA) tests of introducing genetic PCa risk assessment in general practice. The secondary objectives are to evaluate PCa-related patient experiences, and to explore sociocultural aspects of genetic risk assessment in patients at high PCa risk. Methods and analysis The study is a cluster-randomised, controlled intervention study with practice as the unit of randomisation. We expect 140 practices to accept participation and include a total of 1244 patients in 4 months. Patients requesting a PSA test in the intervention group practices will be offered a genetic PCa risk assessment. Patients requesting a PSA test in the control group practices will be handled according to current guidelines. Data will be collected from registers, patient questionnaires and interviews. Quantitative data will be analysed according to intention-to-treat principles. Baseline characteristics will be compared between groups. Longitudinal analyses will include time in risk, and multivariable analysis will be conducted to evaluate the influence of general practitioner and patient-specific variables on future PSA testing. Interview data will be transcribed verbatim and analysed from a social-constructivist perspective. Ethics and dissemination Consent will be obtained from patients who can withdraw from the study at any time. The study provides data to the ongoing conceptual and ethical discussions about genetic risk assessment and classification of low-risk and high-risk individuals. The intervention model might be applicable to other screening areas regarding risk of cancer with identified

  19. Recovery in environmental risk assessment at EFSA

    NARCIS (Netherlands)

    Brock, T.C.M.

    2016-01-01

    EFSA performs environmental risk assessments (ERAs) for single potential stressors such as plant protection products, genetically modified organisms and feed additives and for invasive alien species that are harmful for plant health. In this risk assessment domain, the EFSA Scientific Committee

  20. Recovery in environmental risk assessment at EFSA

    NARCIS (Netherlands)

    Brock, T.C.M.

    2016-01-01

    EFSA performs environmental risk assessments (ERAs) for single potential stressors such as plant protection products, genetically modified organisms and feed additives and for invasive alien species that are harmful for plant health. In this risk assessment domain, the EFSA Scientific Committee reco

  1. The genetics of cancer risk.

    Science.gov (United States)

    Pomerantz, Mark M; Freedman, Matthew L

    2011-01-01

    One hundred years ago, decades before the discovery of the structure of DNA, debate raged regarding how human traits were passed from one generation to the next. Phenotypes, including risk of disease, had long been recognized as having a familial component. Yet it was difficult to reconcile genetic segregation as described by Mendel with observations exhaustively documented by Karl Pearson and others regarding the normal distribution of human characteristics. In 1918, R. A. Fisher published his landmark article, "The Correlation Between Relatives on the Supposition of Mendelian Inheritance," bridging this divide and demonstrating that multiple alleles, all individually obeying Mendel's laws, account for the phenotypic variation observed in nature.Since that time, geneticists have sought to identify the link between genotype and phenotype. Trait-associated alleles vary in their frequency and degree of penetrance. Some minor alleles may approach a frequency of 50% in the human population, whereas others are present within only a few individuals. The spectrum for penetrance is similarly wide. These characteristics jointly determine the segregation pattern of a given trait, which, in turn, determine the method used to map the trait. Until recently, identification of rare, highly penetrant alleles was most practical. Revolutionary studies in genomics reported over the past decade have made interrogation of most of the spectrum of genetic variation feasible.The following article reviews recent discoveries in the genetic basis of inherited cancer risk and how these discoveries inform cancer biology and patient management. Although this article focuses on prostate cancer, the principles are generic for any cancer and, indeed, for any trait.

  2. Risk Assessment of Genetically Engineered Maize Resistant to Diabrotica spp.: Influence on Above-Ground Arthropods in the Czech Republic.

    Directory of Open Access Journals (Sweden)

    Zdeňka Svobodová

    Full Text Available Transgenic maize MON88017, expressing the Cry3Bb1 toxin from Bacillus thuringiensis (Bt maize, confers resistance to corn rootworms (Diabrotica spp. and provides tolerance to the herbicide glyphosate. However, prior to commercialization, substantial assessment of potential effects on non-target organisms within agroecosystems is required. The MON88017 event was therefore evaluated under field conditions in Southern Bohemia in 2009-2011, to detect possible impacts on the above-ground arthropod species. The study compared MON88017, its near-isogenic non-Bt hybrid DK315 (treated or not treated with the soil insecticide Dursban 10G and two non-Bt reference hybrids (KIPOUS and PR38N86. Each hybrid was grown on five 0.5 ha plots distributed in a 14-ha field with a Latin square design. Semiquantitative ELISA was used to verify Cry3Bb1 toxin levels in the Bt maize. The species spectrum of non-target invertebrates changed during seasons and was affected by weather conditions. The thrips Frankliniella occidentalis was the most abundant species in all three successive years. The next most common species were aphids Rhopalosiphum padi and Metopolophium dirhodum. Frequently observed predators included Orius spp. and several species within the Coccinellidae. Throughout the three-year study, analysis of variance indicated some significant differences (P<0.05. Multivariate analysis showed that the abundance and diversity of plant dwelling insects was similar in maize with the same genetic background, for both Bt (MON88017 and non-Bt (DK315 untreated or insecticide treated. KIPOUS and PR38N86 showed some differences in species abundance relative to the Bt maize and its near-isogenic hybrid. However, the effect of management regime on arthropod community was insignificant and accounted only for a negligible portion of the variability.

  3. Risk Assessment of Genetically Engineered Maize Resistant to Diabrotica spp.: Influence on Above-Ground Arthropods in the Czech Republic

    Science.gov (United States)

    Svobodová, Zdeňka; Skoková Habuštová, Oxana; Hutchison, William D.; Hussein, Hany M.; Sehnal, František

    2015-01-01

    Transgenic maize MON88017, expressing the Cry3Bb1 toxin from Bacillus thuringiensis (Bt maize), confers resistance to corn rootworms (Diabrotica spp.) and provides tolerance to the herbicide glyphosate. However, prior to commercialization, substantial assessment of potential effects on non-target organisms within agroecosystems is required. The MON88017 event was therefore evaluated under field conditions in Southern Bohemia in 2009–2011, to detect possible impacts on the above-ground arthropod species. The study compared MON88017, its near-isogenic non-Bt hybrid DK315 (treated or not treated with the soil insecticide Dursban 10G) and two non-Bt reference hybrids (KIPOUS and PR38N86). Each hybrid was grown on five 0.5 ha plots distributed in a 14-ha field with a Latin square design. Semiquantitative ELISA was used to verify Cry3Bb1 toxin levels in the Bt maize. The species spectrum of non-target invertebrates changed during seasons and was affected by weather conditions. The thrips Frankliniella occidentalis was the most abundant species in all three successive years. The next most common species were aphids Rhopalosiphum padi and Metopolophium dirhodum. Frequently observed predators included Orius spp. and several species within the Coccinellidae. Throughout the three-year study, analysis of variance indicated some significant differences (P<0.05). Multivariate analysis showed that the abundance and diversity of plant dwelling insects was similar in maize with the same genetic background, for both Bt (MON88017) and non-Bt (DK315) untreated or insecticide treated. KIPOUS and PR38N86 showed some differences in species abundance relative to the Bt maize and its near-isogenic hybrid. However, the effect of management regime on arthropod community was insignificant and accounted only for a negligible portion of the variability. PMID:26083254

  4. Assessing the Risk for Resistance and Elucidating the Genetics of Colletotrichum truncatum That Is Only Sensitive to Some DMI Fungicides

    Directory of Open Access Journals (Sweden)

    Can Zhang

    2017-09-01

    Full Text Available The genus Colletotrichum contains a wide variety of important plant pathogens, and Colletotrichum truncatum is one of the most prevalent species of Colletotrichum on chili in China. Demethylation-inhibitor fungicides (DMIs are currently registered chemical agents for the management of the anthracnose disease caused by Colletotrichum spp. To assess the risk for DMI resistance development, 112 C. truncatum isolates were collected from infected pepper in 13 regions of China. The sensitivity of C. truncatum isolates to five DMI fungicides was determined based on mycelial growth inhibition assay. C. truncatum was sensitive to prochloraz, epoxiconazole, and difenoconazole, but not to tebuconazole or myclobutanil. Baseline sensitivity using the 112 C. truncatum isolates was established for the first three effective DMIs. Prochloraz, epoxiconazole, and difenoconazole EC50 values were 0.053 ± 0.023, 1.956 ± 0.815, and 1.027 ± 0.644 μg/ml, respectively. Eleven stable DMI-resistant mutants all exhibited lower fitness levels than their wild-type parents, suggesting a low risk of DMI resistance in C. truncatum. By inducing gene expression, CtCYP51 expression increased slightly in the resistant mutants as compared to wild-types when exposed to DMI fungicides and thus contributed at least partially to resistance. Molecular docking with CYP51 structure models was used to explain differential sensitivity of the DMI fungicides in C. truncatum. Our results suggest that the M376L/H373N mutations in CYP51 changed the conformation of DMIs in the binding pocket. These changes prevented the formation of the Fe – N coordinate bond between the heme iron active site and tebuconazole or myclobutanil, and apparently contributed to tebuconazole and myclobutanil insensitivity of C. truncatum.

  5. A multi-factorial genetic model for prognostic assessment of high risk melanoma patients receiving adjuvant interferon.

    Directory of Open Access Journals (Sweden)

    Ena Wang

    Full Text Available PURPOSE: IFNa was the first cytokine to demonstrate anti-tumor activity in advanced melanoma. Despite the ability of high-dose IFNa reducing relapse and mortality by up to 33%, large majority of patients experience side effects and toxicity which outweigh the benefits. The current study attempts to identify genetic markers likely to be associated with benefit from IFN-a2b treatment and predictive for survival. EXPERIMENTAL DESIGN: We tested the association of variants in FOXP3 microsatellites, CTLA4 SNPs and HLA genotype in 284 melanoma patients and their association with prognosis and survival of melanoma patients who received IFNa adjuvant therapy. RESULTS: Univariate survival analysis suggested that patients bearing either the DRB1*15 or HLA-Cw7 allele suffered worse OS while patients bearing either HLA-Cw6 or HLA-B44 enjoyed better OS. DRB1*15 positive patients suffered also worse RFS and conversely HLA-Cw6 positive patients had better RFS. Multivariate analysis revealed that a five-marker genotyping signature was prognostic of OS independent of disease stage. In the multivariate Cox regression model, HLA-B38 (p = 0.021, HLA-C15 (p = 0.025, HLA-C3 (p = 0.014, DRB1*15 (p = 0.005 and CT60*G/G (0.081 were significantly associated with OS with risk ratio of 0.097 (95% CI, 0.013-0.709, 0.387 (95% CI, 0.169-0.889, 0.449 (95% CI, 0.237-0.851, 1.948 (95% CI, 1.221-3.109 and 1.484 (95% IC, 0.953-2.312 respectively. CONCLUSION: These results suggest that gene polymorphisms relevant to a biological occurrence are more likely to be informative when studied in concert to address potential redundant or conflicting functions that may limit each gene individual contribution. The five markers identified here exemplify this concept though prospective validation in independent cohorts is needed.

  6. Cardiac Risk Assessment

    Science.gov (United States)

    ... Risk Assessment Related tests: Lipid Profile , VLDL Cholesterol , hs-CRP , Lp(a) Overview | Common Questions | Related Pages What ... cardiac risk include: High-sensitivity C-reactive protein (hs-CRP) : Studies have shown that measuring CRP with a ...

  7. Molecular biology from bench-to-bedside - which colorectal cancer patients should be referred for genetic counselling and risk assessment

    DEFF Research Database (Denmark)

    Jensen, Lars Henrik; Dysager, Lars; Lindebjerg, Jan

    2010-01-01

    was to validate our previously suggested clinically applicable strategy based on molecular characteristics for identifying which patients to refer for genetic counselling. The strategy was validated in an unselected cohort of 287 colorectal cancer patients. All tumours were tested for MLH1, PMS2, MSH2 and MSH6...... with hereditary cancer. It is feasible to perform a molecular screening to select patients for genetic counselling....

  8. Colorectal Cancer Risk Assessment Tool

    Science.gov (United States)

    ... 11/12/2014 Risk Calculator About the Tool Colorectal Cancer Risk Factors Download SAS and Gauss Code Page ... Rectal Cancer: Prevention, Genetics, Causes Tests to Detect Colorectal Cancer and Polyps Cancer Risk Prediction Resources Update November ...

  9. Factors which impact the delivery of genetic risk assessment services focused on inherited cancer genomics: expanding the role and reach of certified genetics professionals.

    Science.gov (United States)

    Radford, Cristi; Prince, Anya; Lewis, Karen; Pal, Tuya

    2014-08-01

    There is tremendous excitement about the promise of new genomic technologies to transform medical practice and improve patient care. Although the full power of genetic diagnosis has not yet been realized, paradigms of clinical decision-making are changing. In fact, recent policy level changes to promote genetic counseling by certified genetics professionals (GP) such as genetic counselors and clinical geneticists, are occurring at both the payer and state level. However, there remain opportunities to develop policies within the United States to: 1) enhance the access to the limited workforce of GPs; 2) revise reimbursement schemes such that costs to deliver these services may be recouped by institutions with GPs; and 3) protect against the potential for discrimination based on genetic information. Although many of these issues predate advances in genomic technologies, they are exacerbated by them, with increasing access and awareness as costs of testing decrease. Consequently, evolving shifts in national policies poise GPs to serve as a hub of information and may be instrumental in facilitating new models to deliver genetics-based care through promoting academic-community partnerships and interfacing with non-GPs. As we acknowledge the potential for genomics to revolutionize medical practice, the expertise of GPs may be leveraged to facilitate incorporation of this information into mainstream medicine.

  10. Genetic variant SLC2A2 [corrected] Is associated with risk of cardiovascular disease – assessing the individual and cumulative effect of 46 type 2 diabetes related genetic variants.

    Directory of Open Access Journals (Sweden)

    Anders Borglykke

    Full Text Available AIM: To assess the individual and combined effect of 46 type 2 diabetes related risk alleles on incidence of a composite CVD endpoint. METHODS: Data from the first Danish MONICA study (N = 3523 and the Inter99 study (N = 6049 was used. Using Cox proportional hazard regression the individual effect of each risk allele on incident CVD was analyzed. Risk was presented as hazard ratios (HR per risk allele. RESULTS: During 80,859 person years 1441 incident cases of CVD (fatal and non-fatal occurred in the MONICA study. In Inter99 942 incident cases were observed during 61,239 person years. In the Danish MONICA study four gene variants were significantly associated with incident CVD independently of known diabetes status at baseline; SLC2A2 rs11920090 (HR 1.147, 95% CI 1.027-1.283 , P = 0.0154, C2CD4A rs7172432 (1.112, 1.027-1.205 , P = 0.0089, GCKR rs780094 (1.094, 1.007-1.188 , P = 0.0335 and C2CD4B rs11071657 (1.092, 1.007-1.183 , P = 0.0323. The genetic score was significantly associated with increased risk of CVD (1.025, 1.010-1.041, P = 0.0016. In Inter99 two gene variants were associated with risk of CVD independently of diabetes; SLC2A2 (HR 1.180, 95% CI 1.038-1.341 P = 0.0116 and FTO (0.909, 0.827-0.998, P = 0.0463. Analysing the two populations together we found SLC2A2 rs11920090 (HR 1.164, 95% CI 1.070-1.267, P = 0.0004 meeting the Bonferroni corrected threshold for significance. GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229, C2CD4B rs11071657 (1.067, 1.003-1.135, P = 0.0385 and NOTCH2 rs10923931 (1.104 (1.001 ; 1.217 , P = 0.0481 were found associated with CVD without meeting the corrected threshold. The genetic score was significantly associated with increased risk of CVD (1.018, 1.006-1.031, P = 0.0043. CONCLUSIONS: This study showed that out of the 46 genetic variants examined only the minor risk allele of SLC2A2 rs11920090 was significantly (P = 0.0005 associated with a composite endpoint of incident CVD below the threshold for

  11. Microbiological Quantitative Risk Assessment

    Science.gov (United States)

    Dominguez, Silvia; Schaffner, Donald W.

    The meat and poultry industry faces ongoing challenges due to the natural association of pathogens of concern (e.g., Salmonella, Campylobacter jejuni, Escherichia coli O157:H7) with a variety of domesticated food animals. In addition, pathogens such as Listeria monocytogenes pose a significant cross-contamination risk during further meat and poultry processing, distribution, and storage. Furthermore, the meat and poultry industries are constantly changing with the addition of new products, use of new raw materials, and targeting of new consumer populations, each of which may give rise to potential new risks. National and international regulations are increasingly using a “risk-based” approach to food safety (where the regulatory focus is driven by the magnitude of the risk), so risk assessment is becoming a valuable tool to systematically organize and evaluate the potential public health risk posed by food processing operations.

  12. Ionizing radiation and genetic risks

    Energy Technology Data Exchange (ETDEWEB)

    Sankaranarayanan, K. [Department of Toxicogenetics, Leiden University Medical Centre, Sylvius Laboratories, Wassenaarseweg 72, 2333 AL Leiden (Netherlands)]. E-mail: sankaran@lumc.nl; Wassom, J.S. [YAHSGS, LLC, Richland, WA 99352 (United States); Life Sciences Division, Oak Ridge National Laboratory, Oak Ridge, TN 37830 (United States)

    2005-10-15

    Recent estimates of genetic risks from exposure of human populations to ionizing radiation are those presented in the 2001 report of the United Nations Scientific Committee on the Effects of Atomic Radiation (UNSCEAR). These estimates incorporate two important concepts, namely, the following: (1) most radiation-induced mutations are DNA deletions, often encompassing multiple genes, but only a small proportion of the induced deletions is compatible with offspring viability; and (2) the viability-compatible deletions induced in germ cells are more likely to manifest themselves as multi-system developmental anomalies rather than as single gene disorders. This paper: (a) pursues these concepts further in the light of knowledge of mechanisms of origin of deletions and other rearrangements from two fields of contemporary research: repair of radiation-induced DNA double-strand breaks (DSBs) in mammalian somatic cells and human molecular genetics; and (b) extends them to deletions induced in the germ cell stages of importance for radiation risk estimation, namely, stem cell spermatogonia in males and oocytes in females. DSB repair studies in somatic cells have elucidated the roles of two mechanistically distinct pathways, namely, homologous recombination repair (HRR) that utilizes extensive sequence homology and non-homologous end-joining (NHEJ) that requires little or no homology at the junctions. A third process, single-strand annealing (SSA), which utilizes short direct repeat sequences, is considered a variant of HRR. HRR is most efficient in late S and G{sub 2} phases of the cell cycle and is a high fidelity mechanism. NHEJ operates in all cell cycle phases, but is especially important in G{sub 1}. In the context of radiation-induced DSBs, NHEJ is error-prone. SSA is also an error-prone mechanism and its role is presumably similar to that of HRR. Studies in human molecular genetics have demonstrated that the occurrence of large deletions, duplications or other

  13. Genetic variation in South Asia: assessing the influences of geography, language and ethnicity for understanding history and disease risk.

    Science.gov (United States)

    Ayub, Qasim; Tyler-Smith, Chris

    2009-09-01

    South Asia is home to more than 1.5 billion humans representing many diverse ethnicities, linguistic and religious groups and representing almost one-quarter of humanity. Modern humans arrived here soon after their departure from Africa approximately 50,000-70,000 years before present (YBP) and several subsequent human migrations and invasions, as well as the unique social structure of the region, have helped shape the pattern of genetic diversity currently observed in these populations. Over the last few decades population geneticists and molecular anthropologists have analyzed DNA variation in indigenous populations from this region in order to catalog their genetic relationships and histories. The emphasis is gradually shifting from the study of population origins to high resolution surveys of DNA variation to address issues of population stratification and genetic susceptibility or resistance to diseases in genome-wide association surveys. We present a historical overview of the genetic studies carried out on populations from this region in order to understand the influence of geographic, linguistic and religious factors on population diversity in this region, and discuss future prospects in light of developments in high throughput genotyping and next generation sequencing technologies.

  14. What Are the Risks and Limitations of Genetic Testing?

    Science.gov (United States)

    ... testing? What are the risks and limitations of genetic testing? The physical risks associated with most genetic tests ... more information about the risks and limitations of genetic testing: The American College of Medical Genetics and Genomics ( ...

  15. An abuse of risk assessment: how regulatory agencies improperly adopted LNT for cancer risk assessment.

    Science.gov (United States)

    Calabrese, Edward J

    2015-04-01

    The Genetics Panel of the National Academy of Sciences' Committee on Biological Effects of Atomic Radiation (BEAR) recommended the adoption of the linear dose-response model in 1956, abandoning the threshold dose-response for genetic risk assessments. This recommendation was quickly generalized to include somatic cells for cancer risk assessment and later was instrumental in the adoption of linearity for carcinogen risk assessment by the Environmental Protection Agency. The Genetics Panel failed to provide any scientific assessment to support this recommendation and refused to do so when later challenged by other leading scientists. Thus, the linearity model used in cancer risk assessment was based on ideology rather than science and originated with the recommendation of the NAS BEAR Committee Genetics Panel. Historical documentation in support of these conclusions is provided in the transcripts of the Panel meetings and in previously unexamined correspondence among Panel members.

  16. Northwest Climate Risk Assessment

    Science.gov (United States)

    Mote, P.; Dalton, M. M.; Snover, A. K.

    2012-12-01

    As part of the US National Climate Assessment, the Northwest region undertook a process of climate risk assessment. This process included an expert evaluation of previously identified impacts, their likelihoods, and consequences, and engaged experts from both academia and natural resource management practice (federal, tribal, state, local, private, and non-profit) in a workshop setting. An important input was a list of 11 risks compiled by state agencies in Oregon and similar adaptation efforts in Washington. By considering jointly the likelihoods, consequences, and adaptive capacity, participants arrived at an approximately ranked list of risks which was further assessed and prioritized through a series of risk scoring exercises to arrive at the top three climate risks facing the Northwest: 1) changes in amount and timing of streamflow related to snowmelt, causing far-reaching ecological and socioeconomic consequences; 2) coastal erosion and inundation, and changing ocean acidity, combined with low adaptive capacity in the coastal zone to create large risks; and 3) the combined effects of wildfire, insect outbreaks, and diseases will cause large areas of forest mortality and long-term transformation of forest landscapes.

  17. Are There Cultural Differences in Parental Interest in Early Diagnosis and Genetic Risk Assessment for Autism Spectrum Disorder?

    Science.gov (United States)

    Amiet, Claire; Couchon, Elizabeth; Carr, Kelly; Carayol, Jerôme; Cohen, David

    2014-01-01

    Background: There are many societal and cultural differences between healthcare systems and the use of genetic testing in the US and France. These differences may affect the diagnostic process for autism spectrum disorder (ASD) in each country and influence parental opinions regarding the use of genetic screening tools for ASD. Methods: Using an internet-based tool, a survey of parents with at least one child with ASD was conducted. A total of 162 participants from the US completed an English version of the survey and 469 participants from France completed a French version of the survey. Respondents were mainly females (90%) and biological parents (94.3% in the US and 97.2% in France). Results: The mean age of ASD diagnosis reported was not significantly different between France (57.5 ± 38.4 months) and the US (56.5 ± 52.7 months) (p = 0.82) despite significant difference in the average age at which a difference in development was first suspected [29.7 months (±28.4) vs. 21.4 months (±18.1), respectively, p = 7 × 10−4]. Only 27.8% of US participants indicated that their child diagnosed with ASD had undergone diagnostic genetic testing, whereas 61.7% of the French participants indicated this was the case (p = 2.7 × 10−12). In both countries, the majority of respondents (69.3% and 80% from France and the US, respectively) indicated high interest in the use of a genetic screening test for autism. Conclusion: Parents from France and the US report a persistent delay between the initial suspicion of a difference in development and the diagnosis of ASD. Significantly fewer US participants underwent genetic testing although this result should be regarded as exploratory given the limitations. The significance of these between country differences will be discussed. PMID:24795872

  18. Assessment of fracture risk

    Energy Technology Data Exchange (ETDEWEB)

    Kanis, John A. [WHO Collaborating Centre for Metabolic Bone Diseases, University of Sheffield Medical School, Beech Hill Road, Sheffield S10 2RX (United Kingdom)], E-mail: w.j.pontefract@sheffield.ac.uk; Johansson, Helena; Oden, Anders [WHO Collaborating Centre for Metabolic Bone Diseases, University of Sheffield Medical School, Beech Hill Road, Sheffield S10 2RX (United Kingdom); McCloskey, Eugene V. [WHO Collaborating Centre for Metabolic Bone Diseases, University of Sheffield Medical School, Beech Hill Road, Sheffield S10 2RX (United Kingdom); Osteoporosis Centre, Northern General Hospital, Sheffield (United Kingdom)

    2009-09-15

    Fractures are a common complication of osteoporosis. Although osteoporosis is defined by bone mineral density at the femoral neck, other sites and validated techniques can be used for fracture prediction. Several clinical risk factors contribute to fracture risk independently of BMD. These include age, prior fragility fracture, smoking, excess alcohol, family history of hip fracture, rheumatoid arthritis and the use of oral glucocorticoids. These risk factors in conjunction with BMD can be integrated to provide estimates of fracture probability using the FRAX tool. Fracture probability rather than BMD alone can be used to fashion strategies for the assessment and treatment of osteoporosis.

  19. Project 6: Cumulative Risk Assessment Methods and ApplicationsTask 6.3: Applying Genetic and Epigenetic Data to Inform Susceptibility

    Science.gov (United States)

    Susceptibility is defined as the capacity to be affected; an individual can be at greater or less risk relative to population median risk because of susceptibility factors such as life stage, sex, genetics, socioeconomic status, prior exposure to chemicals, and non-chemical stres...

  20. Microbial Risk Assessment

    Science.gov (United States)

    Ott, C. M.; Mena, K. D.; Nickerson, C.A.; Pierson, D. L.

    2009-01-01

    Historically, microbiological spaceflight requirements have been established in a subjective manner based upon expert opinion of both environmental and clinical monitoring results and the incidence of disease. The limited amount of data, especially from long-duration missions, has created very conservative requirements based primarily on the concentration of microorganisms. Periodic reevaluations of new data from later missions have allowed some relaxation of these stringent requirements. However, the requirements remain very conservative and subjective in nature, and the risk of crew illness due to infectious microorganisms is not well defined. The use of modeling techniques for microbial risk has been applied in the food and potable water industries and has exceptional potential for spaceflight applications. From a productivity standpoint, this type of modeling can (1) decrease unnecessary costs and resource usage and (2) prevent inadequate or inappropriate data for health assessment. In addition, a quantitative model has several advantages for risk management and communication. By identifying the variable components of the model and the knowledge associated with each component, this type of modeling can: (1) Systematically identify and close knowledge gaps, (2) Systematically identify acceptable and unacceptable risks, (3) Improve communication with stakeholders as to the reasons for resource use, and (4) Facilitate external scientific approval of the NASA requirements. The modeling of microbial risk involves the evaluation of several key factors including hazard identification, crew exposure assessment, dose-response assessment, and risk characterization. Many of these factors are similar to conditions found on Earth; however, the spaceflight environment is very specialized as the inhabitants live in a small, semi-closed environment that is often dependent on regenerative life support systems. To further complicate modeling efforts, microbial dose

  1. Genetic Risk Prediction of Atrial Fibrillation

    NARCIS (Netherlands)

    Lubitz, Steven A; Yin, Xiaoyan; Lin, Henry; Kolek, Matthew; Smith, J Gustav; Trompet, Stella; Rienstra, Michiel; Rost, Natalia S; Teixeira, Pedro; Almgren, Peter; Anderson, Christopher D; Chen, Lin Y; Engström, Gunnar; Ford, Ian; Furie, Karen L; Guo, Xiuqing; Larson, Martin G; Lunetta, Kathryn; Macfarlane, Peter W; Psaty, Bruce M; Soliman, Elsayed Z; Sotoodehnia, Nona; Stott, David J; Taylor, Kent D; Weng, Lu-Chen; Yao, Jie; Geelhoed, Bastiaan; Verweij, Niek; Siland, Joylene E; Kathiresan, Sekar; Roselli, Carolina; Roden, Dan M; van der Harst, Pim; Darbar, Dawood; Jukema, J Wouter; Melander, Olle; Rosand, Jonathan; Rotter, Jerome I; Heckbert, Susan R; Ellinor, Patrick T; Alonso, Alvaro; Benjamin, Emelia J

    2016-01-01

    BACKGROUND: -Atrial fibrillation (AF) has a substantial genetic basis. Identification of individuals at greatest AF risk could minimize the incidence of cardioembolic stroke. METHODS: -To determine whether genetic data can stratify risk for development of AF, we examined associations between AF gene

  2. Genetic risk variants for social anxiety.

    Science.gov (United States)

    Stein, Murray B; Chen, Chia-Yen; Jain, Sonia; Jensen, Kevin P; He, Feng; Heeringa, Steven G; Kessler, Ronald C; Maihofer, Adam; Nock, Matthew K; Ripke, Stephan; Sun, Xiaoying; Thomas, Michael L; Ursano, Robert J; Smoller, Jordan W; Gelernter, Joel

    2017-03-01

    Social anxiety is a neurobehavioral trait characterized by fear and reticence in social situations. Twin studies have shown that social anxiety has a heritable basis, shared with neuroticism and extraversion, but genetic studies have yet to demonstrate robust risk variants. We conducted genomewide association analysis (GWAS) of subjects within the Army Study To Assess Risk and Resilience in Servicemembers (Army STARRS) to (i) determine SNP-based heritability of social anxiety; (ii) discern genetic risk loci for social anxiety; and (iii) determine shared genetic risk with neuroticism and extraversion. GWAS were conducted within ancestral groups (EUR, AFR, LAT) using linear regression models for each of the three component studies in Army STARRS, and then meta-analyzed across studies. SNP-based heritability for social anxiety was significant (h(2)g  = 0.12, P = 2.17 × 10(-4) in EUR). One meta-analytically genomewide significant locus was seen in each of EUR (rs708012, Chr 6: BP 36965970, P = 1.55 × 10(-8) ; beta = 0.073) and AFR (rs78924501, Chr 1: BP 88406905, P = 3.58 × 10(-8) ; beta = 0.265) samples. Social anxiety in Army STARRS was significantly genetically correlated (negatively) with extraversion (rg  = -0.52, se = 0.22, P = 0.02) but not with neuroticism (rg  = 0.05, se = 0.22, P = 0.81) or with an anxiety disorder factor score (rg  = 0.02, se = 0.32, P = 0.94) from external GWAS meta-analyses. This first GWAS of social anxiety confirms a genetic basis for social anxiety, shared with extraversion but possibly less so with neuroticism. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  3. Genetically engineered plants, endangered species, and risk: a temporal and spatial exposure assessment for Karner blue butterfly larvae and Bt maize pollen.

    Science.gov (United States)

    Peterson, Robert K D; Meyer, Steven J; Wolf, Amy T; Wolt, Jeffrey D; Davis, Paula M

    2006-06-01

    Genetically engineered maize (Zea mays) containing insecticidal endotoxin proteins from Bacillus thuringiensis (Bt) delta-endotoxin proteins has been adopted widely in the Midwestern United States. The proteins are toxic to several lepidopteran species and because a variety of maize tissues, including pollen, may express the endotoxins, the probability of exposure to nontarget species, including endangered species, needs to be understood. The objective of this study was to assess the potential temporal and spatial exposure of endangered Karner blue butterfly larvae (Lycaeides melissa samuelis) to Bt maize pollen in Wisconsin using probabilistic exposure techniques and geographic information systems analysis. Based on degree-day modeling of butterfly phenology and maize pollen shed, there is some potential for temporal exposure of larvae to maize pollen. However, in the majority of years and locations, maize pollen shed most likely will occur after the majority of larval feeding on wild lupine (Lupinus perennis). The spatial analysis indicates that some Karner blue butterfly populations occur in close proximity to maize fields, but in the vast majority of cases the butterfly's host plant and maize fields are separated by more than 500 m. A small number of potential or existing Karner blue butterfly sites are located near maize fields, including sites in two of the four counties where temporal overlap is most likely. The exposure assessment indicates that these two counties should receive the highest priority to determine if Karner blue butterfly larvae are actually at risk and then, if needed, to reduce or prevent exposure.

  4. A more rapid approach to systematically assessing published associations of genetic polymorphisms and disease risk: type 2 diabetes as a test case

    Directory of Open Access Journals (Sweden)

    Cho AH

    2012-01-01

    Full Text Available Alex H Cho1, Xiaolei Jiang2, Devin M Mann3, Kensaku Kawamoto4, Timothy J Robinson5, Nancy Wang6, Jeanette J McCarthy2, Mark Woodward7, Geoffrey S Ginsburg1,21Center for Personalized Medicine and Department of Medicine, Duke University, Durham, NC, 2Institute for Genome Sciences and Policy, Duke University, Durham, NC, 3Section of Preventive Medicine and Epidemiology, Department of Medicine, Boston University School of Medicine, Boston, MA, 4Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, 5Medical College of Virginia, Richmond, VA, 6School of Medicine, University of North Carolina-Chapel Hill, Chapel Hill, NC, USA; 7George Institute for Global Health and University of Sydney, AustraliaBackground: Comparative effectiveness research and research in genomic medicine are not orthogonal pursuits. Both require a robust evidence base, and each stands to benefit from applying the methods of the other. There is an exponentially growing literature reporting associations between single nucleotide polymorphisms (SNPs and increased risk for diseases such as type 2 diabetes. Literature-based meta-analysis is an important method of assessing the validity of published gene-disease associations, but a traditional emphasis on exhaustiveness makes it difficult to study multiple polymorphisms efficiently. Here we describe a novel two-step search method for broadly yet systematically reviewing the literature to identify the "most-studied" gene-disease associations, thereby selecting those with a high possibility of replication on which to conduct abbreviated, simultaneous meta-analyses. This method was then applied to identify and evaluate the validity of SNPs reported to be associated with increased type 2 diabetes risk, to demonstrate proof of principle.Methods: A two-step MEDLINE search (1950 to present was conducted in September 2007 for published genetic association data related to SNPs associated with risk of type 2 diabetes. The

  5. Genetic test to stop smoking (GeTSS) trial protocol: randomised controlled trial of a genetic test (Respiragene) and Auckland formula to assess lung cancer risk.

    Science.gov (United States)

    Nichols, John A A; Grob, Paul; de Lusignan, Simon; Kite, Wendy; Williams, Peter

    2014-05-01

    A gene-based estimate of lung cancer risk in smokers has been shown to act as a smoking cessation motivator in hospital recruited subjects. The objective of this trial is to determine if this motivator is as effective in subjects recruited from an NHS primary care unit. Subjects will be recruited by mailings using smoking entries on the GP electronic data-base (total practice population = 32,048) to identify smokers who may want to quit. Smoking cessation clinics based on medical centre premises will run for eight weeks. Clinics will be randomised to have the gene-based test for estimation of lung cancer risk or to act as controls groups. The primary endpoint will be smoking cessation at eight weeks and six months. Secondary outcomes will include ranking of the gene-based test with other smoking cessation motivators. The results will inform as to whether the gene-based test is both effective as motivator and acceptable to subjects recruited from primary care. Registered with Clinical Trials.gov, NCT01176383.

  6. Prioritizing stream types according to their potential risk to receive crop plant material--A GIS-based procedure to assist in the risk assessment of genetically modified crops and systemic insecticide residues.

    Science.gov (United States)

    Bundschuh, Rebecca; Kuhn, Ulrike; Bundschuh, Mirco; Naegele, Caroline; Elsaesser, David; Schlechtriemen, Ulrich; Oehen, Bernadette; Hilbeck, Angelika; Otto, Mathias; Schulz, Ralf; Hofmann, Frieder

    2016-03-15

    Crop plant residues may enter aquatic ecosystems via wind deposition or surface runoff. In the case of genetically modified crops or crops treated with systemic pesticides, these materials may contain insecticidal Bt toxins or pesticides that potentially affect aquatic life. However, the particular exposure pattern of aquatic ecosystems (i.e., via plant material) is not properly reflected in current risk assessment schemes, which primarily focus on waterborne toxicity and not on plant material as the route of uptake. To assist in risk assessment, the present study proposes a prioritization procedure of stream types based on the freshwater network and crop-specific cultivation data using maize in Germany as a model system. To identify stream types with a high probability of receiving crop materials, we developed a formalized, criteria-based and thus transparent procedure that considers the exposure-related parameters, ecological status--an estimate of the diversity and potential vulnerability of local communities towards anthropogenic stress--and availability of uncontaminated reference sections. By applying the procedure to maize, ten stream types out of 38 are expected to be the most relevant if the ecological effects from plant-incorporated pesticides need to be evaluated. This information is an important first step to identifying habitats within these stream types with a high probability of receiving crop plant material at a more local scale, including accumulation areas. Moreover, the prioritization procedure developed in the present study may support the selection of aquatic species for ecotoxicological testing based on their probability of occurrence in stream types having a higher chance of exposure. Finally, this procedure can be adapted to any geographical region or crop of interest and is, therefore, a valuable tool for a site-specific risk assessment of crop plants carrying systemic pesticides or novel proteins, such as insecticidal Bt toxins, expressed

  7. Genetic/Familial High-Risk Assessment: Colorectal Version 1.2016, NCCN Clinical Practice Guidelines in Oncology.

    Science.gov (United States)

    Provenzale, Dawn; Gupta, Samir; Ahnen, Dennis J; Bray, Travis; Cannon, Jamie A; Cooper, Gregory; David, Donald S; Early, Dayna S; Erwin, Deborah; Ford, James M; Giardiello, Francis M; Grady, William; Halverson, Amy L; Hamilton, Stanley R; Hampel, Heather; Ismail, Mohammad K; Klapman, Jason B; Larson, David W; Lazenby, Audrey J; Lynch, Patrick M; Mayer, Robert J; Ness, Reid M; Regenbogen, Scott E; Samadder, Niloy Jewel; Shike, Moshe; Steinbach, Gideon; Weinberg, David; Dwyer, Mary; Darlow, Susan

    2016-08-01

    This is a focused update highlighting the most current NCCN Guidelines for diagnosis and management of Lynch syndrome. Lynch syndrome is the most common cause of hereditary colorectal cancer, usually resulting from a germline mutation in 1 of 4 DNA mismatch repair genes (MLH1, MSH2, MSH6, or PMS2), or deletions in the EPCAM promoter. Patients with Lynch syndrome are at an increased lifetime risk, compared with the general population, for colorectal cancer, endometrial cancer, and other cancers, including of the stomach and ovary. As of 2016, the panel recommends screening all patients with colorectal cancer for Lynch syndrome and provides recommendations for surveillance for early detection and prevention of Lynch syndrome-associated cancers.

  8. Methylmercury risk assessment issues

    Energy Technology Data Exchange (ETDEWEB)

    Lipfert, F.W. [Brookhaven National Lab., Upton, NY (United States); Saroff, L. [USDOE, Washington, DC (United States)

    1996-07-01

    This paper reviews the general background of health risks associated with mercury (Hg), primarily methylmercury (MeHg), with a view towards application to advanced technologies that could reduce any contributions from coal combustion. The need for accurate assessment of such risks is discussed, since Hg is now widely dispersed in the environment and cannot easily be eliminated. The primary pathway of MeHg intake is through eating contaminated fish. The issues of concern include identification of critical health outcomes (various neurological indices) and their confounding factors, accurate assessment of MeHg intake rates, and appropriate use of dose-response functions. Ultimately, such information will be used to evaluate alternative coal combustion systems.

  9. Disclosing genetic risk for coronary heart disease: effects on perceived personal control and genetic counseling satisfaction.

    Science.gov (United States)

    Robinson, C L; Jouni, H; Kruisselbrink, T M; Austin, E E; Christensen, K D; Green, R C; Kullo, I J

    2016-02-01

    We investigated whether disclosure of coronary heart disease (CHD) genetic risk influences perceived personal control (PPC) and genetic counseling satisfaction (GCS). Participants (n = 207, age: 45-65 years) were randomized to receive estimated 10-year risk of CHD based on a conventional risk score (CRS) with or without a genetic risk score (GRS). Risk estimates were disclosed by a genetic counselor who also reviewed how GRS altered risk in those randomized to CRS+GRS. Each participant subsequently met with a physician and then completed surveys to assess PPC and GCS. Participants who received CRS+GRS had higher PPC than those who received CRS alone although the absolute difference was small (25.2 ± 2.7 vs 24.1 ± 3.8, p = 0.04). A greater proportion of CRS+GRS participants had higher GCS scores (17.3 ± 5.3 vs 15.9 ± 6.3, p = 0.06). In the CRS+GRS group, PPC and GCS scores were not correlated with GRS. Within both groups, PPC and GCS scores were similar in patients with or without family history (p = NS). In conclusion, patients who received their genetic risk of CHD had higher PPC and tended to have higher GCS. Our findings suggest that disclosure of genetic risk of CHD together with conventional risk estimates is appreciated by patients. Whether this results in improved outcomes needs additional investigation.

  10. Stroke Risk Factors, Genetics, and Prevention.

    Science.gov (United States)

    Boehme, Amelia K; Esenwa, Charles; Elkind, Mitchell S V

    2017-02-03

    Stroke is a heterogeneous syndrome, and determining risk factors and treatment depends on the specific pathogenesis of stroke. Risk factors for stroke can be categorized as modifiable and nonmodifiable. Age, sex, and race/ethnicity are nonmodifiable risk factors for both ischemic and hemorrhagic stroke, while hypertension, smoking, diet, and physical inactivity are among some of the more commonly reported modifiable risk factors. More recently described risk factors and triggers of stroke include inflammatory disorders, infection, pollution, and cardiac atrial disorders independent of atrial fibrillation. Single-gene disorders may cause rare, hereditary disorders for which stroke is a primary manifestation. Recent research also suggests that common and rare genetic polymorphisms can influence risk of more common causes of stroke, due to both other risk factors and specific stroke mechanisms, such as atrial fibrillation. Genetic factors, particularly those with environmental interactions, may be more modifiable than previously recognized. Stroke prevention has generally focused on modifiable risk factors. Lifestyle and behavioral modification, such as dietary changes or smoking cessation, not only reduces stroke risk, but also reduces the risk of other cardiovascular diseases. Other prevention strategies include identifying and treating medical conditions, such as hypertension and diabetes, that increase stroke risk. Recent research into risk factors and genetics of stroke has not only identified those at risk for stroke but also identified ways to target at-risk populations for stroke prevention. © 2017 American Heart Association, Inc.

  11. Environmental and genetic risk factors in obesity.

    Science.gov (United States)

    Hebebrand, Johannes; Hinney, Anke

    2009-01-01

    Because of its high prevalence and the associated medical and psychosocial risks, research into the causes of childhood obesity has experienced a tremendous upswing. Formal genetic data based on twin, adoption, and family studies lead to the conclusion that at least 50% of the interindividual variance of the body mass index (BMI; defined as weight in kilograms divided by height in meters squared) is due to genetic factors. As a result of the recent advent of genome-wide association studies, the first polygenes involved in body weight regulation have been detected. Each of the predisposing alleles explain a few hundred grams of body weight. More polygenes will be detected in the near future, thus for the first time allowing in-depth analyses of gene-gene and gene-environment interactions. They also will enable developmental studies to assess the effect of such alleles throughout childhood and adulthood. The recent increase in obesity prevalence rates illustrates the extreme relevance of environmental factors for body weight. Similar to polygenes, the effect sizes of most such environmental factors are likely to be small, thus rendering their detection difficult. In addition, the validation of the true causality of such factors is not a straightforward task. Important factors are socioeconomic status and television consumption. The authors conclude by briefly assessing implications for treatment and prevention of childhood obesity.

  12. Integrating genetics and social science: genetic risk scores.

    Science.gov (United States)

    Belsky, Daniel W; Israel, Salomon

    2014-01-01

    The sequencing of the human genome and the advent of low-cost genome-wide assays that generate millions of observations of individual genomes in a matter of hours constitute a disruptive innovation for social science. Many public use social science datasets have or will soon add genome-wide genetic data. With these new data come technical challenges, but also new possibilities. Among these, the lowest-hanging fruit and the most potentially disruptive to existing research programs is the ability to measure previously invisible contours of health and disease risk within populations. In this article, we outline why now is the time for social scientists to bring genetics into their research programs. We discuss how to select genetic variants to study. We explain how the polygenic architecture of complex traits and the low penetrance of individual genetic loci pose challenges to research integrating genetics and social science. We introduce genetic risk scores as a method of addressing these challenges and provide guidance on how genetic risk scores can be constructed. We conclude by outlining research questions that are ripe for social science inquiry.

  13. Molecular-genetic risk assessement of determining angiotensin-converting enzyme hyperactivity in hemorrhagic fever with renal syndrome

    Directory of Open Access Journals (Sweden)

    Ildar R. Minniakhmetov

    2012-09-01

    Full Text Available The present study was designed to investigate changes in angiotensin-converting enzyme (ACE blood activity and angiotensin II type 1 receptor gene polymorphism as a possible disease predictor in hemorrhagic fever with renal syndrome (HFRS. Four hundred and nine patients (346 males and 63 females with HFRS serologic confirmation were enrolled in the study. Their age ranged from 15 to 65 years. ACE blood activity was assessed kinetically using the Bühlmann (Switzerland kit. Peripheral blood genomic DNA was isolated by a phenol-chloroform extraction. The genotyping of DNA loci was done using a polymerase chain reaction of DNA synthesis. Statistically, ACE blood activity was significantly higher throughout the entire HFRS course with diverse severity apart from the feverish phase of moderate-to-severe uncomplicated disease forms. *A1166 and *C1166 alleles, *A1166/*A1166 and *C1166/*C1166 genotypes of angiotensin II type 1 receptor gene were not associated with HFRS severity. The results of this study indicate that high ACE activity has not adaptive characteristics due to abnormalities in angiotensin II reception. It is an adequate metabolic response of the body to endotheliotropic virus activity.

  14. Genetic testing and your cancer risk

    Science.gov (United States)

    ... patientinstructions/000842.htm Genetic testing and your cancer risk To use the sharing features on this page, ... urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows ...

  15. Surgery Risk Assessment (SRA) Database

    Data.gov (United States)

    Department of Veterans Affairs — The Surgery Risk Assessment (SRA) database is part of the VA Surgical Quality Improvement Program (VASQIP). This database contains assessments of selected surgical...

  16. Framework for Metals Risk Assessment

    Science.gov (United States)

    The Framework for Metals Risk Assessment is a science-based document that addresses the special attributes and behaviors of metals and metal compounds to be considered when assessing their human health and ecological risks.

  17. Framework for Ecological Risk Assessment

    Science.gov (United States)

    This is the first step in a long-term effort to develop risk assessment guidelines for ecological effects. Its primary purpose is to offer a simple, flexible structure for conducting and evaluating ecological risk assessment within EPA.

  18. Risk assessment for carnitine.

    Science.gov (United States)

    Hathcock, John N; Shao, Andrew

    2006-10-01

    Carnitine is a conditionally essential amino acid-like compound involved in the transport of long-chain fatty acids into the mitochondria during the beta-oxidation process. Carnitine has become an increasingly popular ingredient in dietary supplements, especially weight loss and some sports nutrition products. A number of clinical trials have been conducted examining the effect of carnitine supplementation on weight loss and energy balance. Regarding safety, systematic evaluation of the research designs and data do not provide a basis for risk assessment and the usual safe upper level of intake (UL) derived from it unless the newer methods described as the observed safe level (OSL) or highest observed intake (HOI) are utilized. The OSL risk assessment method indicates that the evidence of safety is strong at intakes up to 2000mg/day l-carnitine equivalents for chronic supplementation, and this level is identified as the OSL. Although much higher levels have been tested without adverse effects and may be safe, the data for intakes above 2000mg/day are not sufficient for a confident conclusion of long-term safety.

  19. Transportable data from non-target arthropod field studies for the environmental risk assessment of genetically modified maize expressing an insecticidal double-stranded RNA.

    Science.gov (United States)

    Ahmad, Aqeel; Negri, Ignacio; Oliveira, Wladecir; Brown, Christopher; Asiimwe, Peter; Sammons, Bernard; Horak, Michael; Jiang, Changjian; Carson, David

    2016-02-01

    As part of an environmental risk assessment, the potential impact of genetically modified (GM) maize MON 87411 on non-target arthropods (NTAs) was evaluated in the field. MON 87411 confers resistance to corn rootworm (CRW; Diabrotica spp.) by expressing an insecticidal double-stranded RNA (dsRNA) transcript and the Cry3Bb1 protein and tolerance to the herbicide glyphosate by producing the CP4 EPSPS protein. Field trials were conducted at 14 sites providing high geographic and environmental diversity within maize production areas from three geographic regions including the U.S., Argentina, and Brazil. MON 87411, the conventional control, and four commercial conventional reference hybrids were evaluated for NTA abundance and damage. Twenty arthropod taxa met minimum abundance criteria for valid statistical analysis. Nine of these taxa occurred in at least two of the three regions and in at least four sites across regions. These nine taxa included: aphid, predatory earwig, lacewing, ladybird beetle, leafhopper, minute pirate bug, parasitic wasp, sap beetle, and spider. In addition to wide regional distribution, these taxa encompass the ecological functions of herbivores, predators and parasitoids in maize agro-ecosystems. Thus, the nine arthropods may serve as representative taxa of maize agro-ecosystems, and thereby support that analysis of relevant data generated in one region can be transportable for the risk assessment of the same or similar GM crop products in another region. Across the 20 taxa analyzed, no statistically significant differences in abundance were detected between MON 87411 and the conventional control for 123 of the 128 individual-site comparisons (96.1%). For the nine widely distributed taxa, no statistically significant differences in abundance were detected between MON 87411 and the conventional control. Furthermore, no statistically significant differences were detected between MON 87411 and the conventional control for 53 out of 56 individual

  20. Risk assessment in travel medicine.

    Science.gov (United States)

    Leggat, Peter A

    2006-01-01

    Risk assessment is an integral part of pre-travel and post- assessment. Risk assessment largely determines what health and safety advice and interventions are given within the relevant prevailing travel health guidelines. Risk assessment needs time and depends on information, including that given by the traveller. Risk assessment also needs to be documented. Risk assessment of the traveller preferably starts before they enter the consulting room, where travellers may complete a pre-travel health questionnaire. Armed with this information, risk assessment may be assisted by access to computerised travel health databases and the published literature. Experience of travel to the destination may also assist in risk assessment and the tour operator, overseas employer or agency, the traveller or even the travel health advisers themselves may provide this information.

  1. Risk assessment and risk management of mycotoxins.

    Science.gov (United States)

    2012-01-01

    Risk assessment is the process of quantifying the magnitude and exposure, or probability, of a harmful effect to individuals or populations from certain agents or activities. Here, we summarize the four steps of risk assessment: hazard identification, dose-response assessment, exposure assessment, and risk characterization. Risk assessments using these principles have been conducted on the major mycotoxins (aflatoxins, fumonisins, ochratoxin A, deoxynivalenol, and zearalenone) by various regulatory agencies for the purpose of setting food safety guidelines. We critically evaluate the impact of these risk assessment parameters on the estimated global burden of the associated diseases as well as the impact of regulatory measures on food supply and international trade. Apart from the well-established risk posed by aflatoxins, many uncertainties still exist about risk assessments for the other major mycotoxins, often reflecting a lack of epidemiological data. Differences exist in the risk management strategies and in the ways different governments impose regulations and technologies to reduce levels of mycotoxins in the food-chain. Regulatory measures have very little impact on remote rural and subsistence farming communities in developing countries, in contrast to developed countries, where regulations are strictly enforced to reduce and/or remove mycotoxin contamination. However, in the absence of the relevant technologies or the necessary infrastructure, we highlight simple intervention practices to reduce mycotoxin contamination in the field and/or prevent mycotoxin formation during storage.

  2. Genetic testing and genetic counseling in patients with sudden death risk due to heritable arrhythmias.

    Science.gov (United States)

    Spoonamore, Katherine G; Ware, Stephanie M

    2016-03-01

    Sudden cardiac death due to heritable ventricular arrhythmias is an important cause of mortality, especially in young healthy individuals. The identification of the genetic basis of Mendelian diseases associated with arrhythmia has allowed the integration of this information into the diagnosis and clinical management of patients and at-risk family members. The rapid expansion of genetic testing options and the increasing complexity involved in the interpretation of results creates unique opportunities and challenges. There is a need for competency to incorporate genetics into clinical management and to provide appropriate family-based risk assessment and information. In addition, disease-specific genetic knowledge is required to order and correctly interpret and apply genetic testing results. Importantly, genetic diagnosis has a critical role in the risk stratification and clinical management of family members. This review summarizes the approach to genetic counseling and genetic testing for inherited arrhythmias and highlights specific genetic principles that apply to long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia.

  3. Genetic risk estimation by healthcare professionals

    NARCIS (Netherlands)

    B. Bonke (Benno); A. Tibben (Arend); D. Lindhout (Dick); A.J. Clarke (Angus); Th. Stijnen (Theo)

    2005-01-01

    textabstractOBJECTIVES: To assess whether healthcare professionals correctly incorporate the relevance of a favourable test outcome in a close relative when determining the level of risk for individuals at risk for Huntington's disease. DESIGN AND SETTING: Survey of clinical

  4. Common Gene Variants Account for Most Genetic Risk for Autism

    Science.gov (United States)

    ... July 20, 2014 Common gene variants account for most genetic risk for autism Roles of heritability, mutations, ... factors. Population-Based Autism Genetics and Environment Study Most of the genetic risk for autism comes from ...

  5. Caries risk assessment

    DEFF Research Database (Denmark)

    Mejàre, I; Axelsson, S; Dahlén, G

    2014-01-01

    OBJECTIVE: To assess the ability of multivariate models and single factors to correctly identify future caries development in pre-school children and schoolchildren/adolescents. STUDY DESIGN: A systematic literature search for relevant papers was conducted with pre-determined inclusion criteria....... Seven studies had high quality, 35 moderate and the rest poor quality. The accuracy of multivariate models was higher for pre-school children than for schoolchildren/adolescents. However, the models had seldom been validated in independent populations, making their accuracy uncertain. Of the single...... predictors, baseline caries experience had moderate/good accuracy in pre-school children and limited accuracy in schoolchildren/adolescents. The period of highest risk for caries incidence in permanent teeth was the first few years after tooth eruption. In general, the quality of evidence was limited...

  6. Tools for microbiological risk assessment

    OpenAIRE

    Bassett, J; Nauta, M; Lindqvist, R.; Zwietering, M. H.

    2012-01-01

    Microbiological Risk Assessment (MRA) has emerged as a comprehensive and systematic approach for addressing the risk of pathogens in specific foods and/or processes. At government level, MRA is increasingly recognised as a structured and objective approach to understand the level of risk in a given food/pathogen scenario. Tools developed so far support qualitative and quantitative assessments of the risk that a food pathogen poses to a particular population. Risk can be expressed as absolute ...

  7. Genetic Predisposition to Ischemic Stroke: A Polygenic Risk Score.

    Science.gov (United States)

    Hachiya, Tsuyoshi; Kamatani, Yoichiro; Takahashi, Atsushi; Hata, Jun; Furukawa, Ryohei; Shiwa, Yuh; Yamaji, Taiki; Hara, Megumi; Tanno, Kozo; Ohmomo, Hideki; Ono, Kanako; Takashima, Naoyuki; Matsuda, Koichi; Wakai, Kenji; Sawada, Norie; Iwasaki, Motoki; Yamagishi, Kazumasa; Ago, Tetsuro; Ninomiya, Toshiharu; Fukushima, Akimune; Hozawa, Atsushi; Minegishi, Naoko; Satoh, Mamoru; Endo, Ryujin; Sasaki, Makoto; Sakata, Kiyomi; Kobayashi, Seiichiro; Ogasawara, Kuniaki; Nakamura, Motoyuki; Hitomi, Jiro; Kita, Yoshikuni; Tanaka, Keitaro; Iso, Hiroyasu; Kitazono, Takanari; Kubo, Michiaki; Tanaka, Hideo; Tsugane, Shoichiro; Kiyohara, Yutaka; Yamamoto, Masayuki; Sobue, Kenji; Shimizu, Atsushi

    2017-02-01

    The prediction of genetic predispositions to ischemic stroke (IS) may allow the identification of individuals at elevated risk and thereby prevent IS in clinical practice. Previously developed weighted multilocus genetic risk scores showed limited predictive ability for IS. Here, we investigated the predictive ability of a newer method, polygenic risk score (polyGRS), based on the idea that a few strong signals, as well as several weaker signals, can be collectively informative to determine IS risk. We genotyped 13 214 Japanese individuals with IS and 26 470 controls (derivation samples) and generated both multilocus genetic risk scores and polyGRS, using the same derivation data set. The predictive abilities of each scoring system were then assessed using 2 independent sets of Japanese samples (KyushuU and JPJM data sets). In both validation data sets, polyGRS was shown to be significantly associated with IS, but weighted multilocus genetic risk scores was not. Comparing the highest with the lowest polyGRS quintile, the odds ratios for IS were 1.75 (95% confidence interval, 1.33-2.31) and 1.99 (95% confidence interval, 1.19-3.33) in the KyushuU and JPJM samples, respectively. Using the KyushuU samples, the addition of polyGRS to a nongenetic risk model resulted in a significant improvement of the predictive ability (net reclassification improvement=0.151; Pgenetic risk scores as an IS prediction model. Thus, together with the nongenetic risk factors, polyGRS will provide valuable information for individual risk assessment and management of modifiable risk factors. © 2016 The Authors.

  8. Principles of Risk Assessment

    DEFF Research Database (Denmark)

    Løkke, H.

    1999-01-01

    The report contains the proceedings from the conference Genetically Modified Organisms in Nordic Habitats - Sustainable Use or Loss of Diversity? in Helsinki, 1998......The report contains the proceedings from the conference Genetically Modified Organisms in Nordic Habitats - Sustainable Use or Loss of Diversity? in Helsinki, 1998...

  9. Atrial Fibrillation Genetic Risk and Ischemic Stroke Mechanisms.

    Science.gov (United States)

    Lubitz, Steven A; Parsons, Owen E; Anderson, Christopher D; Benjamin, Emelia J; Malik, Rainer; Weng, Lu-Chen; Dichgans, Martin; Sudlow, Cathie L; Rothwell, Peter M; Rosand, Jonathan; Ellinor, Patrick T; Markus, Hugh S; Traylor, Matthew

    2017-06-01

    Atrial fibrillation (AF) is a leading cause of cardioembolic stroke, but the relationship between AF and noncardioembolic stroke subtypes are unclear. Because AF may be unrecognized, and because AF has a substantial genetic basis, we assessed for predisposition to AF across ischemic stroke subtypes. We examined associations between AF genetic risk and Trial of Org 10172 in Acute Stroke Treatment stroke subtypes in 2374 ambulatory individuals with ischemic stroke and 5175 without from the Wellcome Trust Case-Control Consortium 2 using logistic regression. We calculated AF genetic risk scores using single-nucleotide polymorphisms associated with AF in a previous independent analysis across a range of preselected significance thresholds. There were 460 (19.4%) individuals with cardioembolic stroke, 498 (21.0%) with large vessel, 474 (20.0%) with small vessel, and 814 (32.3%) individuals with strokes of undetermined cause. Most AF genetic risk scores were associated with stroke, with the strongest association (P=6×10(-)(4)) attributed to scores of 944 single-nucleotide polymorphisms (each associated with AF at Pgenetic risk and stroke were enriched in the cardioembolic stroke subset (strongest P=1.2×10(-)(9), 944 single-nucleotide polymorphism score). In contrast, AF genetic risk was not significantly associated with noncardioembolic stroke subtypes. Comprehensive AF genetic risk scores were specific for cardioembolic stroke. Incomplete workups and subtype misclassification may have limited the power to detect associations with strokes of undetermined pathogenesis. Future studies are warranted to determine whether AF genetic risk is a useful biomarker to enhance clinical discrimination of stroke pathogeneses. © 2017 American Heart Association, Inc.

  10. Information needs for risk assessment

    Energy Technology Data Exchange (ETDEWEB)

    DeRosa, C.T.; Choudhury, H.; Schoeny, R.S.

    1990-12-31

    Risk assessment can be thought of as a conceptual approach to bridge the gap between the available data and the ultimate goal of characterizing the risk or hazard associated with a particular environmental problem. To lend consistency to and to promote quality in the process, the US Environmental Protection Agency (EPA) published Guidelines for Risk Assessment of Carcinogenicity, Developmental Toxicity, Germ Cell Mutagenicity and Exposure Assessment, and Risk Assessment of Chemical Mixtures. The guidelines provide a framework for organizing the information, evaluating data, and for carrying out the risk assessment in a scientifically plausible manner. In the absence of sufficient scientific information or when abundant data are available, the guidelines provide alternative methodologies that can be employed in the risk assessment. 4 refs., 3 figs., 2 tabs.

  11. Exploration Health Risks: Probabilistic Risk Assessment

    Science.gov (United States)

    Rhatigan, Jennifer; Charles, John; Hayes, Judith; Wren, Kiley

    2006-01-01

    Maintenance of human health on long-duration exploration missions is a primary challenge to mission designers. Indeed, human health risks are currently the largest risk contributors to the risks of evacuation or loss of the crew on long-duration International Space Station missions. We describe a quantitative assessment of the relative probabilities of occurrence of the individual risks to human safety and efficiency during space flight to augment qualitative assessments used in this field to date. Quantitative probabilistic risk assessments will allow program managers to focus resources on those human health risks most likely to occur with undesirable consequences. Truly quantitative assessments are common, even expected, in the engineering and actuarial spheres, but that capability is just emerging in some arenas of life sciences research, such as identifying and minimize the hazards to astronauts during future space exploration missions. Our expectation is that these results can be used to inform NASA mission design trade studies in the near future with the objective of preventing the higher among the human health risks. We identify and discuss statistical techniques to provide this risk quantification based on relevant sets of astronaut biomedical data from short and long duration space flights as well as relevant analog populations. We outline critical assumptions made in the calculations and discuss the rationale for these. Our efforts to date have focussed on quantifying the probabilities of medical risks that are qualitatively perceived as relatively high risks of radiation sickness, cardiac dysrhythmias, medically significant renal stone formation due to increased calcium mobilization, decompression sickness as a result of EVA (extravehicular activity), and bone fracture due to loss of bone mineral density. We present these quantitative probabilities in order-of-magnitude comparison format so that relative risk can be gauged. We address the effects of

  12. Minimizing extinction risk through genetic rescue

    Directory of Open Access Journals (Sweden)

    Waite, T. A.

    2005-12-01

    Full Text Available According to the genetic rescue hypothesis, immigrants can improve population persistence through their genetic contribution alone. We investigate the potential for such rescue using small, inbred laboratory populations of the bean beetle (Callosobruchus maculatus. We ask how many migrants per generation (MPG are needed to minimize the genetic component of extinction risk. During Phase 1, population size was made to fluctuate between 6 and 60 (for 10 generations. During this phase, we manipulated the number of MPG, replacing 0, 1, 3, or 5 females every generation with immigrant females. During Phase 2, we simply set an upper limit on population size (.10. Compared with the 0-MPG treatment, the other treatments were equivalently effective at improving reproductive success and reducing extinction risk. A single MPG was sufficient for genetic rescue, apparently because effective migration rate was inflated dramatically during generations when population size was small. An analysis of quasi-extinction suggests that replicate populations in the 1-MPG treatment benefited from initial purging of inbreeding depression. Populations in this treatment performed so well apparently because they received the dual benefit of purging followed by genetic infusion. Our results suggest the need for further evaluation of alternative schemes for genetic rescue.

  13. [Forensic assessment of violence risk].

    Science.gov (United States)

    Pujol Robinat, Amadeo; Mohíno Justes, Susana; Gómez-Durán, Esperanza L

    2014-03-01

    Over the last 20 years there have been steps forward in the field of scientific research on prediction and handling different violent behaviors. In this work we go over the classic concept of "criminal dangerousness" and the more current of "violence risk assessment". We analyze the evolution of such assessment from the practice of non-structured clinical expert opinion to current actuarial methods and structured clinical expert opinion. Next we approach the problem of assessing physical violence risk analyzing the HCR-20 (Assessing Risk for Violence) and we also review the classic and complex subject of the relation between mental disease and violence. One of the most problematic types of violence, difficult to assess and predict, is sexual violence. We study the different actuarial and sexual violence risk prediction instruments and in the end we advise an integral approach to the problem. We also go through partner violence risk assessment, describing the most frequently used scales, especially SARA (Spouse Assault Risk Assessment) and EPV-R. Finally we give practical advice on risk assessment, emphasizing the importance of having maximum information about the case, carrying out a clinical examination, psychopathologic exploration and the application of one of the described risk assessment scales. We'll have to express an opinion about the dangerousness/risk of future violence from the subject and some recommendations on the conduct to follow and the most advisable treatment. Copyright © 2014 Elsevier España, S.L. All rights reserved.

  14. Using risk assessment in periodontics.

    Science.gov (United States)

    Woodman, Alan J

    2014-08-01

    Risk assessment has become a regular feature in both dental practice and society as a whole, and principles used to assess risk in society are similar to those used in a clinical setting. Although the concept of risk assessment as a prognostic indicator for periodontal disease incidence and activity is well established in the management of periodontitis, the use of risk assessment to manage the practical treatment of periodontitis and its sequelae appears to have less foundation. A simple system of initial risk assessment - building on the use of the Basic Periodontal Examination (BPE), clinical, medical and social factors - is described, linked to protocols for delivering care suited to general dental practice and stressing the role of long-term supportive care. The risks of not treating the patient are considered, together with the possible causes of failure, and the problems of successful treatment are illustrated by the practical management of post-treatment recession.

  15. Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42 103 individuals

    NARCIS (Netherlands)

    Dunlop, Malcolm G.; Tenesa, Albert; Farrington, Susan M.; Ballereau, Stephane; Brewster, David H.; Koessler, Thibaud; Pharoah, Paul; Schafmayer, Clemens; Hampe, Jochen; Voelzke, Henry; Chang-Claude, Jenny; Hoffmeister, Michael; Brenner, Hermann; von Holst, Susanna; Picelli, Simone; Lindblom, Annika; Jenkins, Mark A.; Hopper, John L.; Casey, Graham; Duggan, David; Newcomb, Polly A.; Abuli, Anna; Bessa, Xavier; Ruiz-Ponte, Clara; Castellvi-Bel, Sergi; Niittymaeki, Iina; Tuupanen, Sari; Karhu, Auli; Aaltonen, Lauri; Zanke, Brent; Hudson, Tom; Gallinger, Steven; Barclay, Ella; Martin, Lynn; Gorman, Maggie; Carvajal-Carmona, Luis; Walther, Axel; Kerr, David; Lubbe, Steven; Broderick, Peter; Chandler, Ian; Pittman, Alan; Penegar, Steven; Campbell, Harry; Tomlinson, Ian; Houlston, Richard S.

    2013-01-01

    Objective Colorectal cancer (CRC) has a substantial heritable component. Common genetic variation has been shown to contribute to CRC risk. A study was conducted in a large multi-population study to assess the feasibility of CRC risk prediction using common genetic variant data combined with other r

  16. RESIDUAL RISK ASSESSMENT: ETHYLENE OXIDE ...

    Science.gov (United States)

    This document describes the residual risk assessment for the Ethylene Oxide Commercial Sterilization source category. For stationary sources, section 112 (f) of the Clean Air Act requires EPA to assess risks to human health and the environment following implementation of technology-based control standards. If these technology-based control standards do not provide an ample margin of safety, then EPA is required to promulgate addtional standards. This document describes the methodology and results of the residual risk assessment performed for the Ethylene Oxide Commercial Sterilization source category. The results of this analyiss will assist EPA in determining whether a residual risk rule for this source category is appropriate.

  17. Nanomaterials: Regulation and Risk Assessment

    DEFF Research Database (Denmark)

    Hansen, Steffen Foss; Grieger, Khara Deanne; Baun, Anders

    2013-01-01

    The topics of regulation and risk assessment of nanomaterials have never been more relevant and controversial in Europe than they are at this point in time. In this entry, we present and discuss a number of major pieces of legislation relevant for the regulation of nanomaterials, including REACH...... Regulation. Chemical risk assessment provides a fundamental element in support of existing legislation. Risk assessment is normally said to consist of four elements, i.e., hazard identification, dose–response assessment, exposure assessment, and risk characterization. Each of these four elements hold......, the Water Framework Directive, pharmaceuticals regulation, and the Novel Foods Regulation. Current regulation of nanomaterials entail three overall challenges: 1) limitations in regard to terminology and definitions of key terms such as a “substance,” “novel food,” etc.; 2) safety assessment requirements...

  18. Family Assessment and Genetic Counseling.

    Science.gov (United States)

    Carpenter, Pat; And Others

    Presented are two papers from a panel discussion on prenatal diagnosis and genetic counseling with families. D. Blackston (director of the Developmental Evaluation Clinic, Decatur, Georgia) points out that a concise family history, pregnancy and birth data, developmental history, careful physical examination, and appropriate laboratory studies are…

  19. Implications of probabilistic risk assessment

    Energy Technology Data Exchange (ETDEWEB)

    Cullingford, M.C.; Shah, S.M.; Gittus, J.H. (eds.)

    1987-01-01

    Probabilistic risk assessment (PRA) is an analytical process that quantifies the likelihoods, consequences and associated uncertainties of the potential outcomes of postulated events. Starting with planned or normal operation, probabilistic risk assessment covers a wide range of potential accidents and considers the whole plant and the interactions of systems and human actions. Probabilistic risk assessment can be applied in safety decisions in design, licensing and operation of industrial facilities, particularly nuclear power plants. The proceedings include a review of PRA procedures, methods and technical issues in treating uncertainties, operating and licensing issues and future trends. Risk assessment for specific reactor types or components and specific risks (eg aircraft crashing onto a reactor) are used to illustrate the points raised. All 52 articles are indexed separately. (U.K.).

  20. FRAMEWORK FOR ASSESSING RISKS OF ...

    Science.gov (United States)

    The Framework for Children's Health Risk Assessment report can serve as a resource on children's health risk assessment and it addresses the need to provide a comprehensive and consistent framework for considering children in risk assessments at EPA. This framework lays out the process, points to existing published sources for more detailed information on life stage-specific considerations, and includes web links to specific online publications and relevant Agency science policy papers, guidelines and guidance. The document emphasizes the need to take into account the potential exposures to environmental agents during preconception and all stages of development and focuses on the relevant adverse health outcomes that may occur as a result of such exposures. This framework is not an Agency guideline, but rather describes the overall structure and the components considered important for children's health risk assessment. The document describes an approach that includes problem formulation, analysis, and risk characterization, and also builds on Agency experience assessing risk to susceptible populations. The problem formulation step focuses on the life stage-specific nature of the analysis to include scoping and screening level questions for hazard characterization, dose response and exposure assessment. The risk characterization step recognizes the need to consider life stage-specific risks and explicitly describes the uncertainties and variability in the d

  1. Perceived Impact of Diabetes Genetic Risk Testing Among Patients at High Phenotypic Risk for Type 2 Diabetes

    OpenAIRE

    Markowitz, Sarah M.; O’Brien, Kelsey E.; Park, Elyse Richelle; Delahanty, Linda Michele; Grant, Richard W.

    2011-01-01

    Objective: Rapid advances in diabetes genetic epidemiology may lead to a new era of “personalized medicine” based on individual genetic risk assessment. There is minimal experience to guide how best to clinically implement such testing so that results (e.g., “higher” or “lower” relative genetic risk) improve rather than reduce patient motivation for behavior change. Research Design and Methods: Between November 2009 and May 2010, we conducted in-depth interviews with 22 overweight participant...

  2. Risk Assessment and Integration Team (RAIT) Portfolio Risk Analysis Strategy

    Science.gov (United States)

    Edwards, Michelle

    2010-01-01

    Impact at management level: Qualitative assessment of risk criticality in conjunction with risk consequence, likelihood, and severity enable development of an "investment policy" towards managing a portfolio of risks. Impact at research level: Quantitative risk assessments enable researchers to develop risk mitigation strategies with meaningful risk reduction results. Quantitative assessment approach provides useful risk mitigation information.

  3. Quantitative risk assessment of CO

    NARCIS (Netherlands)

    Koornneef, J.; Spruijt, M.; Molag, M.; Ramírez, A.; Turkenburg, W.; Faaij, A.

    2010-01-01

    A systematic assessment, based on an extensive literature review, of the impact of gaps and uncertainties on the results of quantitative risk assessments (QRAs) for CO2 pipelines is presented. Sources of uncertainties that have been assessed are: failure rates, pipeline pressure, temperat

  4. Tools for Microbiological risk assessment

    DEFF Research Database (Denmark)

    Bassett, john; Nauta, Maarten; Lindqvist, Roland

    Microbiological Risk Assessment (MRA) has emerged as a comprehensive and systematic approach for addressing the risk of pathogens in specific foods and/or processes. At government level, MRA is increasingly recognised as a structured and objective approach to understand the level of risk in a given...... can increase the understanding of microbiological risks in foods. It is timely to inform food safety professionals about the availability and utility of MRA tools. Therefore, the focus of this report is to aid the food safety manager by providing a concise summary of the tools available for the MRA...... food/pathogen scenario. Tools developed so far support qualitative and quantitative assessments of the risk that a food pathogen poses to a particular population. Risk can be expressed as absolute numbers or as relative (ranked) risks. The food industry is beginning to appreciate that the tools for MRA...

  5. [Risk assessment of chemical agents].

    Science.gov (United States)

    Cottica, Danilo; Grignani, Elena; Bartolucci, Giovanni Battista

    2011-01-01

    The risk assessment of chemical agents is a well known and applied process carried out by Industrial Hygienists and Occupational Physicians based on exposure evaluation. The application of REACH (CE 1907/2006), CLP (CE 1272/2008) and SDS (UE 453/2010) introduces some changes and instruments to carry out the occupational exposure assessment, like new classification of substances, Exposure Scenario, suggested control measures that the Industrial Hygienist and the Occupational Physician must evaluate. If there is not a similar Exposure Scenario to apply a new risk assessment must carried out also by recommended software (ECETOC Targeted Risk Assessment; Easy to use workplace EMKG; Stoffenmanager). Looking at the relevance of the control measures and evaluation of Exposure Scenario we report the flowchart of risk assessment and management by the Method of Organisational Congruencies carried out with the Prevention and Protection Service and Occupational Physician Office of the Health Service of the Azienda Provinciale of Trento.

  6. Genetic factors affecting dental caries risk.

    Science.gov (United States)

    Opal, S; Garg, S; Jain, J; Walia, I

    2015-03-01

    This article reviews the literature on genetic aspects of dental caries and provides a framework for the rapidly changing disease model of caries. The scope is genetic aspects of various dental factors affecting dental caries. The PubMed database was searched for articles with keywords 'caries', 'genetics', 'taste', 'diet' and 'twins'. This was followed by extensive handsearching using reference lists from relevant articles. The post-genomic era will present many opportunities for improvement in oral health care but will also present a multitude of challenges. We can conclude from the literature that genes have a role to play in dental caries; however, both environmental and genetic factors have been implicated in the aetiology of caries. Additional studies will have to be conducted to replicate the findings in a different population. Identification of genetic risk factors will help screen and identify susceptible patients to better understand the contribution of genes in caries aetiopathogenesis. Information derived from these diverse studies will provide new tools to target individuals and/or populations for a more efficient and effective implementation of newer preventive measures and diagnostic and novel therapeutic approaches in the management of this disease.

  7. Body Mass Index Genetic Risk Score and Endometrial Cancer Risk.

    Directory of Open Access Journals (Sweden)

    Jennifer Prescott

    Full Text Available Genome-wide association studies (GWAS have identified common variants that predispose individuals to a higher body mass index (BMI, an independent risk factor for endometrial cancer. Composite genotype risk scores (GRS based on the joint effect of published BMI risk loci were used to explore whether endometrial cancer shares a genetic background with obesity. Genotype and risk factor data were available on 3,376 endometrial cancer case and 3,867 control participants of European ancestry from the Epidemiology of Endometrial Cancer Consortium GWAS. A BMI GRS was calculated by summing the number of BMI risk alleles at 97 independent loci. For exploratory analyses, additional GRSs were based on subsets of risk loci within putative etiologic BMI pathways. The BMI GRS was statistically significantly associated with endometrial cancer risk (P = 0.002. For every 10 BMI risk alleles a woman had a 13% increased endometrial cancer risk (95% CI: 4%, 22%. However, after adjusting for BMI, the BMI GRS was no longer associated with risk (per 10 BMI risk alleles OR = 0.99, 95% CI: 0.91, 1.07; P = 0.78. Heterogeneity by BMI did not reach statistical significance (P = 0.06, and no effect modification was noted by age, GWAS Stage, study design or between studies (P≥0.58. In exploratory analyses, the GRS defined by variants at loci containing monogenic obesity syndrome genes was associated with reduced endometrial cancer risk independent of BMI (per BMI risk allele OR = 0.92, 95% CI: 0.88, 0.96; P = 2.1 x 10-5. Possessing a large number of BMI risk alleles does not increase endometrial cancer risk above that conferred by excess body weight among women of European descent. Thus, the GRS based on all current established BMI loci does not provide added value independent of BMI. Future studies are required to validate the unexpected observed relation between monogenic obesity syndrome genetic variants and endometrial cancer risk.

  8. Do Health Professionals Need Additional Competencies for Stratified Cancer Prevention Based on Genetic Risk Profiling?

    Science.gov (United States)

    Chowdhury, Susmita; Henneman, Lidewij; Dent, Tom; Hall, Alison; Burton, Alice; Pharoah, Paul; Pashayan, Nora; Burton, Hilary

    2015-06-09

    There is growing evidence that inclusion of genetic information about known common susceptibility variants may enable population risk-stratification and personalized prevention for common diseases including cancer. This would require the inclusion of genetic testing as an integral part of individual risk assessment of an asymptomatic individual. Front line health professionals would be expected to interact with and assist asymptomatic individuals through the risk stratification process. In that case, additional knowledge and skills may be needed. Current guidelines and frameworks for genetic competencies of non-specialist health professionals place an emphasis on rare inherited genetic diseases. For common diseases, health professionals do use risk assessment tools but such tools currently do not assess genetic susceptibility of individuals. In this article, we compare the skills and knowledge needed by non-genetic health professionals, if risk-stratified prevention is implemented, with existing competence recommendations from the UK, USA and Europe, in order to assess the gaps in current competences. We found that health professionals would benefit from understanding the contribution of common genetic variations in disease risk, the rationale for a risk-stratified prevention pathway, and the implications of using genomic information in risk-assessment and risk management of asymptomatic individuals for common disease prevention.

  9. Do Health Professionals Need Additional Competencies for Stratified Cancer Prevention Based on Genetic Risk Profiling?

    Directory of Open Access Journals (Sweden)

    Susmita Chowdhury

    2015-06-01

    Full Text Available There is growing evidence that inclusion of genetic information about known common susceptibility variants may enable population risk-stratification and personalized prevention for common diseases including cancer. This would require the inclusion of genetic testing as an integral part of individual risk assessment of an asymptomatic individual. Front line health professionals would be expected to interact with and assist asymptomatic individuals through the risk stratification process. In that case, additional knowledge and skills may be needed. Current guidelines and frameworks for genetic competencies of non-specialist health professionals place an emphasis on rare inherited genetic diseases. For common diseases, health professionals do use risk assessment tools but such tools currently do not assess genetic susceptibility of individuals. In this article, we compare the skills and knowledge needed by non-genetic health professionals, if risk-stratified prevention is implemented, with existing competence recommendations from the UK, USA and Europe, in order to assess the gaps in current competences. We found that health professionals would benefit from understanding the contribution of common genetic variations in disease risk, the rationale for a risk-stratified prevention pathway, and the implications of using genomic information in risk-assessment and risk management of asymptomatic individuals for common disease prevention.

  10. Genetic Risk Score for Essential Hypertension and Risk of Preeclampsia.

    Science.gov (United States)

    Smith, Caitlin J; Saftlas, Audrey F; Spracklen, Cassandra N; Triche, Elizabeth W; Bjonnes, Andrew; Keating, Brendan; Saxena, Richa; Breheny, Patrick J; Dewan, Andrew T; Robinson, Jennifer G; Hoh, Josephine; Ryckman, Kelli K

    2016-01-01

    Preeclampsia is a hypertensive complication of pregnancy characterized by novel onset of hypertension after 20 weeks gestation, accompanied by proteinuria. Epidemiological evidence suggests that genetic susceptibility exists for preeclampsia; however, whether preeclampsia is the result of underlying genetic risk for essential hypertension has yet to be investigated. Based on the hypertensive state that is characteristic of preeclampsia, we aimed to determine if established genetic risk scores (GRSs) for hypertension and blood pressure are associated with preeclampsia. Subjects consisted of 162 preeclamptic cases and 108 normotensive pregnant controls, all of Iowa residence. Subjects' DNA was extracted from buccal swab samples and genotyped on the Affymetrix Genome-wide Human SNP Array 6.0 (Affymetrix, Santa Clara, CA). Missing genotypes were imputed using MaCH and Minimac software. GRSs were calculated for hypertension, systolic blood pressure (SBP), diastolic blood pressure (DBP), and mean arterial pressure (MAP) using established genetic risk loci for each outcome. Regression analyses were performed to determine the association between GRS and risk of preeclampsia. These analyses were replicated in an independent US population of 516 cases and 1,097 controls of European ancestry. GRSs for hypertension, SBP, DBP, and MAP were not significantly associated with risk for preeclampsia (P > 0.189). The results of the replication analysis also yielded nonsignificant associations. GRSs for hypertension and blood pressure are not associated with preeclampsia, suggesting that an underlying predisposition to essential hypertension is not on the causal pathway of preeclampsia. © American Journal of Hypertension, Ltd 2015. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  11. Applying a weed risk assessment approach to GM crops.

    Science.gov (United States)

    Keese, Paul K; Robold, Andrea V; Myers, Ruth C; Weisman, Sarah; Smith, Joe

    2014-12-01

    Current approaches to environmental risk assessment of genetically modified (GM) plants are modelled on chemical risk assessment methods, which have a strong focus on toxicity. There are additional types of harms posed by plants that have been extensively studied by weed scientists and incorporated into weed risk assessment methods. Weed risk assessment uses robust, validated methods that are widely applied to regulatory decision-making about potentially problematic plants. They are designed to encompass a broad variety of plant forms and traits in different environments, and can provide reliable conclusions even with limited data. The knowledge and experience that underpin weed risk assessment can be harnessed for environmental risk assessment of GM plants. A case study illustrates the application of the Australian post-border weed risk assessment approach to a representative GM plant. This approach is a valuable tool to identify potential risks from GM plants.

  12. Life Cycle Assessment and Risk Assessment

    DEFF Research Database (Denmark)

    Olsen, Stig Irving

    Life Cycle Assessment (LCA) is a tool for environmental assessment of product and systems – over the whole life cycle from acquisition of raw materials to the end-of-life of the product – and encompassing all environmental impacts of emissions and resource usage, e.g. global warming, acidification...... and toxicity. Whereas Risk Assessment (RA) aims to identify absolute risks, LCA assess potential or relative impacts. LCA is readily applicable to nanotechnologies and several studies have been carried out, but LCA faces large problems when addressing toxic impacts of nanomaterials emitted during the life...... cycle. The models for assessing toxic impacts in LCA are to a large extent based on those developed for RA, e.g. EUSES, and require basic information about the inherent properties of the emissions like solubility, LogKow,ED50 etc. Additionally, it is a prerequisite to know how to characterize...

  13. Gastrointestinal Stromal Tumors, Somatic Mutations and Candidate Genetic Risk Variants

    OpenAIRE

    Katie M O'Brien; Irene Orlow; Antonescu, Cristina R.; Karla Ballman; Linda McCall; Ronald DeMatteo; Engel, Lawrence S.

    2013-01-01

    Gastrointestinal stromal tumors (GISTs) are rare but treatable soft tissue sarcomas. Nearly all GISTs have somatic mutations in either the KIT or PDGFRA gene, but there are no known inherited genetic risk factors. We assessed the relationship between KIT/PDGFRA mutations and select deletions or single nucleotide polymorphisms (SNPs) in 279 participants from a clinical trial of adjuvant imatinib mesylate. Given previous evidence that certain susceptibility loci and carcinogens are associated w...

  14. Hazard classification or risk assessment

    DEFF Research Database (Denmark)

    Hass, Ulla

    2013-01-01

    The EU classification of substances for e.g. reproductive toxicants is hazard based and does not to address the risk suchsubstances may pose through normal, or extreme, use. Such hazard classification complies with the consumer's right to know. It is also an incentive to careful use and storage...... and to substitute with less toxic compounds. Actually, if exposure is constant across product class, producersmay make substitution decisions based on hazard. Hazard classification is also useful during major accidents where there is no time for risk assessment and the exposure is likely to be substantial enough...... be a poor substitute for a proper risk assessment as low potency substances can constitute a risk if the exposure is high enough and vice versa. Examples illustrating the strength and limitations of hazard classification, risk assessment and toxicological potency will be presented with focus on reproductive...

  15. Deterministic quantitative risk assessment development

    Energy Technology Data Exchange (ETDEWEB)

    Dawson, Jane; Colquhoun, Iain [PII Pipeline Solutions Business of GE Oil and Gas, Cramlington Northumberland (United Kingdom)

    2009-07-01

    Current risk assessment practice in pipeline integrity management is to use a semi-quantitative index-based or model based methodology. This approach has been found to be very flexible and provide useful results for identifying high risk areas and for prioritizing physical integrity assessments. However, as pipeline operators progressively adopt an operating strategy of continual risk reduction with a view to minimizing total expenditures within safety, environmental, and reliability constraints, the need for quantitative assessments of risk levels is becoming evident. Whereas reliability based quantitative risk assessments can be and are routinely carried out on a site-specific basis, they require significant amounts of quantitative data for the results to be meaningful. This need for detailed and reliable data tends to make these methods unwieldy for system-wide risk k assessment applications. This paper describes methods for estimating risk quantitatively through the calibration of semi-quantitative estimates to failure rates for peer pipeline systems. The methods involve the analysis of the failure rate distribution, and techniques for mapping the rate to the distribution of likelihoods available from currently available semi-quantitative programs. By applying point value probabilities to the failure rates, deterministic quantitative risk assessment (QRA) provides greater rigor and objectivity than can usually be achieved through the implementation of semi-quantitative risk assessment results. The method permits a fully quantitative approach or a mixture of QRA and semi-QRA to suit the operator's data availability and quality, and analysis needs. For example, consequence analysis can be quantitative or can address qualitative ranges for consequence categories. Likewise, failure likelihoods can be output as classical probabilities or as expected failure frequencies as required. (author)

  16. Modern biogeochemistry environmental risk assessment

    CERN Document Server

    Bashkin, Vladimir N

    2006-01-01

    Most books deal mainly with various technical aspects of ERA description and calculationsAims at generalizing the modern ideas of both biogeochemical and environmental risk assessment during recent yearsAims at supplementing the existing books by providing a modern understanding of mechanisms that are responsible for the ecological risk for human beings and ecosystem

  17. Cloud computing assessing the risks

    CERN Document Server

    Carstensen, Jared; Golden, Bernard

    2012-01-01

    Cloud Computing: Assessing the risks answers these questions and many more. Using jargon-free language and relevant examples, analogies and diagrams, it is an up-to-date, clear and comprehensive guide the security, governance, risk, and compliance elements of Cloud Computing.

  18. Test reactor risk assessment methodology

    Energy Technology Data Exchange (ETDEWEB)

    Jennings, R.H.; Rawlins, J.K.; Stewart, M.E.

    1976-04-01

    A methodology has been developed for the identification of accident initiating events and the fault modeling of systems, including common mode identification, as these methods are applied in overall test reactor risk assessment. The methods are exemplified by a determination of risks to a loss of primary coolant flow in the Engineering Test Reactor.

  19. Risk assessment future cash flows

    OpenAIRE

    Chachina H. G.

    2012-01-01

    This article is about risk assessment in planning future cash flows. Discount rate in DCF-model must include four factors: risk cash flow, inflation, value of investments, turnover assets. This has an influence net present value cash flow and make his incomparable.

  20. Risk assessment future cash flows

    OpenAIRE

    Chachina H. G.

    2012-01-01

    This article is about risk assessment in planning future cash flows. Discount rate in DCF-model must include four factors: risk cash flow, inflation, value of investments, turnover assets. This has an influence net present value cash flow and make his incomparable.

  1. SEISMIC RISK ASSESSMENT OF LEVEES

    Directory of Open Access Journals (Sweden)

    Dario Rosidi

    2007-01-01

    Full Text Available A seismic risk assessment procedure for earth embankments and levees is presented. The procedure consists of three major elements: (1 probability of ground motion at the site, (2 probability of levee failure given a level of ground motion has occurred and (3 expected loss resulting from the failure. This paper discusses the first two elements of the risk assessment. The third element, which includes economic losses and human casualty, will not be presented herein. The ground motions for risk assessment are developed using a probabilistic seismic hazard analysis. A two-dimensional finite element analysis is performed to estimate the dynamic responses of levee, and the probability of levee failure is calculated using the levee fragility curve. The overall objective of the assessment is to develop an analytical tool for assessing the failure risk and the effectiveness of various levee strengthening alternatives for risk reduction. An example of the procedure, as it applies to a levee built along the perimeter of an island for flood protection and water storage, is presented. Variations in earthquake ground motion and soil and water conditions at the site are incorporated in the risk assessment. The effects of liquefaction in the foundation soils are also considered.

  2. Integrated climate change risk assessment:

    DEFF Research Database (Denmark)

    Kaspersen, Per Skougaard; Halsnæs, Kirsten

    2017-01-01

    Risk assessments of flooding in urban areas during extreme precipitation for use in, for example, decision-making regarding climate adaptation, are surrounded by great uncertainties stemming from climate model projections, methods of downscaling and the assumptions of socioeconomic impact models....... enables the relative importance of the different factors (i.e. degree of climate change, assets value, discount rate etc.) to be determined, thus influencing the overall output of the assessment.......Risk assessments of flooding in urban areas during extreme precipitation for use in, for example, decision-making regarding climate adaptation, are surrounded by great uncertainties stemming from climate model projections, methods of downscaling and the assumptions of socioeconomic impact models...... to address the complex linkages between the different kinds of data required in assessing climate adaptation. It emphasizes that the availability of spatially explicit data can reduce the overall uncertainty of the risk assessment and assist in identifying key vulnerable assets. The usefulness...

  3. Avalanche risk assessment in Russia

    Science.gov (United States)

    Komarov, Anton; Seliverstov, Yury; Sokratov, Sergey; Glazovskaya, Tatiana; Turchaniniva, Alla

    2017-04-01

    The avalanche prone area covers about 3 million square kilometers or 18% of total area of Russia and pose a significant problem in most mountain regions of the country. The constant growth of economic activity, especially in the North Caucasus region and therefore the increased avalanche hazard lead to the demand of the large-scale avalanche risk assessment methods development. Such methods are needed for the determination of appropriate avalanche protection measures as well as for economic assessments during all stages of spatial planning of the territory. The requirement of natural hazard risk assessments is determined by the Federal Law of Russian Federation. However, Russian Guidelines (SP 11-103-97; SP 47.13330.2012) are not clearly presented concerning avalanche risk assessment calculations. A great size of Russia territory, vast diversity of natural conditions and large variations in type and level of economic development of different regions cause significant variations in avalanche risk values. At the first stage of research the small scale avalanche risk assessment was performed in order to identify the most common patterns of risk situations and to calculate full social risk and individual risk. The full social avalanche risk for the territory of country was estimated at 91 victims. The area of territory with individual risk values lesser then 1×10(-6) covers more than 92 % of mountain areas of the country. Within these territories the safety of population can be achieved mainly by organizational activities. Approximately 7% of mountain areas have 1×10(-6) - 1×10(-4) individual risk values and require specific mitigation measures to protect people and infrastructure. Territories with individual risk values 1×10(-4) and above covers about 0,1 % of the territory and include the most severe and hazardous mountain areas. The whole specter of mitigation measures is required in order to minimize risk. The future development of such areas is not recommended

  4. Cancer risk assessment of toxaphene.

    Science.gov (United States)

    Buranatrevedh, Surasak

    2004-07-01

    The primary purpose is to do cancer risk assessment of toxaphene by using four steps of risk assessment proposed by the United States National Academy of Sciences/National Research Council (NAS/NRC). Four steps of risk assessment including hazard identification, dose-response relationship, exposure assessment, and risk characterization were used to evaluate cancer risk of toxaphene. Toxaphene was the most heavily used insecticide in many parts of the world before it was banned in 1982. It increased incidence of neoplasms of liver and uterus in mice and increased incidence of neoplasms of endocrine organs, thyroid, pituitary, adrenal, mammary glands, and reproductive systems in rats. From mice's and rats' study, slope factor for toxaphene is 0.8557 (mg/ kg/day)(-1). Lifetime average daily dose (LADD) of toxaphene from ambient air, surface water, soil, and fish were 1.08 x 10(-6), 5.71 x 10(-6), 3.43 x 10(-7), and 7.96 x 10(-5) mg/kg/day, respectively. Cancer risk of toxaphene for average exposure is 7.42 x 10(-5). From this study, toxaphene might have carcinogenic risk among humans.

  5. Qualitative methods for assessing risk

    Energy Technology Data Exchange (ETDEWEB)

    Mahn, J.A. [Sandia National Labs., Albuquerque, NM (United States); Hannaman, G.W. [Science Applications International Corp., San Diego, CA (United States); Kryska, P. [Science Applications International Corp., Albuquerque, NM (United States)

    1995-04-01

    The Department of Energy`s (DOE) non-nuclear facilities generally require only a qualitative accident analysis to assess facility risks in accordance with DOE Order 5481.1B, Safety Analysis and Review System. Achieving a meaningful qualitative assessment of risk necessarily requires the use of suitable non-numerical assessment criteria. Typically, the methods and criteria for assigning facility-specific accident scenarios to the qualitative severity and likelihood classification system in the DOE order requires significant judgment in many applications. Systematic methods for more consistently assigning the total accident scenario frequency and associated consequences are required to substantiate and enhance future risk ranking between various activities at Sandia National Laboratories (SNL). SNL`s Risk Management and National Environmental Policy Act (NEPA) Department has developed an improved methodology for performing qualitative risk assessments in accordance wi the DOE order requirements. Products of this effort are an improved set of qualitative description that permit (1) definition of the severity for both technical and programmatic consequences that may result from a variety of accident scenarios, and (2) qualitative representation of the likelihood of occurrence. These sets of descriptions are intended to facilitate proper application of DOE criteria for assessing facility risks.

  6. Qualitative methods for assessing risk

    Energy Technology Data Exchange (ETDEWEB)

    Mahn, J.A. [Sandia National Labs., Albuquerque, NM (United States); Hannaman, G.W. [Science Applications International Corp., San Diego, CA (United States); Kryska, P. [Science Applications International Corp., Albuquerque, NM (United States)

    1995-04-01

    The Department of Energy`s (DOE) non-nuclear facilities generally require only a qualitative accident analysis to assess facility risks in accordance with DOE Order 5481.1B, Safety Analysis and Review System. Achieving a meaningful qualitative assessment of risk necessarily requires the use of suitable non-numerical assessment criteria. Typically, the methods and criteria for assigning facility-specific accident scenarios to the qualitative severity and likelihood classification system in the DOE order requires significant judgment in many applications. Systematic methods for more consistently assigning the total accident scenario frequency and associated consequences are required to substantiate and enhance future risk ranking between various activities at Sandia National Laboratories (SNL). SNL`s Risk Management and National Environmental Policy Act (NEPA) Department has developed an improved methodology for performing qualitative risk assessments in accordance wi the DOE order requirements. Products of this effort are an improved set of qualitative description that permit (1) definition of the severity for both technical and programmatic consequences that may result from a variety of accident scenarios, and (2) qualitative representation of the likelihood of occurrence. These sets of descriptions are intended to facilitate proper application of DOE criteria for assessing facility risks.

  7. Impact of literacy and numeracy on motivation for behavior change after diabetes genetic risk testing.

    Science.gov (United States)

    Vassy, Jason L; O'Brien, Kelsey E; Waxler, Jessica L; Park, Elyse R; Delahanty, Linda M; Florez, Jose C; Meigs, James B; Grant, Richard W

    2012-01-01

    Type 2 diabetes genetic risk testing might motivate at-risk patients to adopt diabetes prevention behaviors. However, the influence of literacy and numeracy on patient response to diabetes genetic risk is unknown. The authors investigated the association of health literacy, genetic literacy, and health numeracy with patient responses to diabetes genetic risk. and Measurements Overweight patients at high phenotypic risk for type 2 diabetes were recruited for a clinical trial of diabetes genetic risk testing. At baseline, participants predicted how their motivation for lifestyle modification to prevent diabetes might change in response to hypothetical scenarios of receiving "high" and "low" genetic risk results. Responses were analyzed according to participants' health literacy, genetic literacy, and health numeracy. Two-thirds (67%) of participants (n = 175) reported very high motivation to prevent diabetes. Despite high health literacy (92% at high school level), many participants had limited health numeracy (30%) and genetic literacy (38%). Almost all (98%) reported that high-risk genetic results would increase their motivation for lifestyle modification. In contrast, response to low-risk genetic results varied. Higher levels of health literacy (P = 0.04), genetic literacy (P = 0.02), and health numeracy (P = 0.02) were associated with an anticipated decrease in motivation for lifestyle modification in response to low-risk results. While patients reported that high-risk genetic results would motivate them to adopt healthy lifestyle changes, response to low-risk results varied by patient numeracy and literacy. However, anticipated responses may not correlate with true behavior change. If future research justifies the clinical use of genetic testing to motivate behavior change, it may be important to assess how patient characteristics modify that motivational effect.

  8. Genetic risk factors for hypertrophic scar development.

    Science.gov (United States)

    Thompson, Callie M; Hocking, Anne M; Honari, Shari; Muffley, Lara A; Ga, Maricar; Gibran, Nicole S

    2013-01-01

    Hypertrophic scars (HTSs) occur in 30 to 72% patients after thermal injury. Risk factors include skin color, female sex, young age, burn site, and burn severity. Recent correlations between genetic variations and clinical conditions suggest that single-nucleotide polymorphisms (SNPs) may be associated with HTS formation. The authors hypothesized that an SNP in the p27 gene (rs36228499) previously associated with decreased restenosis after coronary stenting would be associated with lower Vancouver Scar Scale (VSS) measurements and decreased itching. Patient and injury characteristics were collected from adults with thermal burns. VSS scores were calculated at 4 to 9 months after injury. Genotyping was performed using real-time polymerase chain reaction. Logistic regression was used to determine risk factors for HTS as measured by a VSS score >7. Three hundred subjects had a median age of 39 years (range, 18-91); 69% were male and median burn size was 7% TBSA (range, 0.25-80). Consistent with literature, the p27 variant SNP had an allele frequency of 40%, but was not associated with reduced HTS formation or lower itch scores in any genetic model. HTS formation was associated with American Indian/Alaskan Native race (odds ratio [OR], 12.2; P = .02), facial burns (OR, 9.4; P = .04), and burn size ≥20% TBSA (OR, 1.99; P = .03). Although the p27 SNP may protect against vascular fibroproliferation, the effect cannot be generalized to cutaneous scars. This study suggests that American Indian/Alaskan Native race, facial burns, and higher %TBSA are independent risk factors for HTS. The American Indian/Alaskan Native association suggests that there are potentially yet-to-be-identified genetic variants.

  9. Risk assessment models in genetics clinic for array comparative genomic hybridization: Clinical information can be used to predict the likelihood of an abnormal result in patients.

    Science.gov (United States)

    Marano, Rachel M; Mercurio, Laura; Kanter, Rebecca; Doyle, Richard; Abuelo, Dianne; Morrow, Eric M; Shur, Natasha

    2013-03-01

    Array comparative genomic hybridization (aCGH) testing can diagnose chromosomal microdeletions and duplications too small to be detected by conventional cytogenetic techniques. We need to consider which patients are more likely to receive a diagnosis from aCGH testing versus patients that have lower likelihood and may benefit from broader genome wide scanning. We retrospectively reviewed charts of a population of 200 patients, 117 boys and 83 girls, who underwent aCGH testing in Genetics Clinic at Rhode Island hospital between 1 January/2008 and 31 December 2010. Data collected included sex, age at initial clinical presentation, aCGH result, history of seizures, autism, dysmorphic features, global developmental delay/intellectual disability, hypotonia and failure to thrive. aCGH analysis revealed abnormal results in 34 (17%) and variants of unknown significance in 24 (12%). Patients with three or more clinical diagnoses had a 25.0% incidence of abnormal aCGH findings, while patients with two or fewer clinical diagnoses had a 12.5% incidence of abnormal aCGH findings. Currently, we provide families with a range of 10-30% of a diagnosis with aCGH testing. With increased clinical complexity, patients have an increased probability of having an abnormal aCGH result. With this, we can provide individualized risk estimates for each patient.

  10. A genetic assessment of the English bulldog

    OpenAIRE

    Niels C Pedersen; Pooch, Ashley S.; Liu, Hongwei

    2016-01-01

    Background This study examines genetic diversity among 102 registered English Bulldogs used for breeding based on maternal and paternal haplotypes, allele frequencies in 33 highly polymorphic short tandem repeat (STR) loci on 25 chromosomes, STR-linked dog leukocyte antigen (DLA) class I and II haplotypes, and the number and size of genome-wide runs of homozygosity (ROH) determined from high density SNP arrays. The objective was to assess whether the breed retains enough genetic diversity to ...

  11. Presymptomatic risk assessment for chronic non-communicable diseases.

    Directory of Open Access Journals (Sweden)

    Badri Padhukasahasram

    Full Text Available The prevalence of common chronic non-communicable diseases (CNCDs far overshadows the prevalence of both monogenic and infectious diseases combined. All CNCDs, also called complex genetic diseases, have a heritable genetic component that can be used for pre-symptomatic risk assessment. Common single nucleotide polymorphisms (SNPs that tag risk haplotypes across the genome currently account for a non-trivial portion of the germ-line genetic risk and we will likely continue to identify the remaining missing heritability in the form of rare variants, copy number variants and epigenetic modifications. Here, we describe a novel measure for calculating the lifetime risk of a disease, called the genetic composite index (GCI, and demonstrate its predictive value as a clinical classifier. The GCI only considers summary statistics of the effects of genetic variation and hence does not require the results of large-scale studies simultaneously assessing multiple risk factors. Combining GCI scores with environmental risk information provides an additional tool for clinical decision-making. The GCI can be populated with heritable risk information of any type, and thus represents a framework for CNCD pre-symptomatic risk assessment that can be populated as additional risk information is identified through next-generation technologies.

  12. Genetic Risk Score Predicts Late-Life Cognitive Impairment

    Directory of Open Access Journals (Sweden)

    Mariegold E. Wollam

    2015-01-01

    Full Text Available Introduction. A family history of Alzheimer’s disease is a significant risk factor for its onset, but the genetic risk associated with possessing multiple risk alleles is still poorly understood. Methods. In a sample of 95 older adults (Mean age = 75.1, 64.2% female, we constructed a genetic risk score based on the accumulation of risk alleles in BDNF, COMT, and APOE. A neuropsychological evaluation and consensus determined cognitive status (44 nonimpaired, 51 impaired. Logistic regression was performed to determine whether the genetic risk score predicted cognitive impairment above and beyond that associated with each gene. Results. An increased genetic risk score was associated with a nearly 4-fold increased risk of cognitive impairment (OR = 3.824, P = .013 when including the individual gene polymorphisms as covariates in the model. Discussion. A risk score combining multiple genetic influences may be more useful in predicting late-life cognitive impairment than individual polymorphisms.

  13. Safety assessment, detection and traceability, and societal aspects of genetically modified foods. European Network on Safety Assessment of Genetically Modified Food Crops (ENTRANSFOOD). Concluding remarks.

    Science.gov (United States)

    Kuiper, H A; König, A; Kleter, G A; Hammes, W P; Knudsen, I

    2004-07-01

    The most important results from the EU-sponsored ENTRANSFOOD Thematic Network project are reviewed, including the design of a detailed step-wise procedure for the risk assessment of foods derived from genetically modified crops based on the latest scientific developments, evaluation of topical risk assessment issues, and the formulation of proposals for improved risk management and public involvement in the risk analysis process.

  14. Safety assessment of genetically modified foods.

    Science.gov (United States)

    Taylor, S L

    2001-12-01

    The development of novel foods produced through agricultural biotechnology is a complex three-stage process: gene discovery, line selection, and product advancement to commercialization. The safety of genetically modified foods is an integral part of the overall developmental process throughout all of the stages. In the discovery stage, the safety of the gene, its source, and the gene products must be considered. If any questions arise at this stage, these questions must be answered later in the developmental process. During the line selection stage, the genetically modified seed progresses through a variety of greenhouse and field trials. At this stage, the biological and agronomic equivalence of the genetically modified crop to its traditional counterpart must be compared. While the evaluations made during this stage are not specifically directed toward a safety assessment, many potential products with unusual characteristics are eliminated during this stage of development. However, the elimination of products with unusual agronomic or biological characteristics enhances the likelihood that a safe product will be generated. Finally, in the pre-commercialization stage, the genetically modified product undergoes a detailed safety assessment process. This process focuses on the safety of the gene products associated with the introduced gene and any other likely toxicological or anti-nutrient factors associated with the source of the novel gene and the crop to which it was introduced. The safety of the genetically modified product for both food and feed uses is considered. Thus far, all of the genetically modified products brought into the marketplace have been subjected to such an intensive safety assessment. The safety assessment data have been reviewed by regulatory authorities around the world. The current generation of genetically modified products are quite safe for human and feed animal consumption.

  15. An approach to risk assessment

    DEFF Research Database (Denmark)

    Simonsen, L.; Lund, S. P.; Hass, Ulla

    1998-01-01

    indicate that numerous persons are exposed in the working as well as in the general environment to several chemicals, for which almost no data on the effect on subtle neurophysiological functions are available. Development of an approach to risk assessment dealing with this problem is a major challenge...... in the nineties. Different approaches to risk assessment are discussed, the quality of the databases available for hazard assessment are evaluated, and the needs for further research are identified. (C) 1996 Intox Press, Inc.......A strategy for delineating risk factors from use of neurotoxic chemicals was applied to the Danish working environment. An analysis using this strategy disclosed the need for internationally adopted criteria for neurotoxicity, and consequently a working group was established by the Nordic Council...

  16. Army Independent Risk Assessment Guidebook

    Science.gov (United States)

    2014-04-01

    AMSAA Kadry Rizk, TARDEC Lisa Graf, TARDEC Klaus Sanford, TRAC Elyse Krezmien, TRAC Jerry Scriven, ALU Igor Linkov, ERDC Alison Tichenor...Engineering ATEC - Army Test and Evaluation Command BCA - Business Case Analysis C - Consequence Level C- BA - Cost Benefit Analysis CDD...the AMSAA Risk Team has completed 12 technical and schedule risk assessments to support AoAs and Cost-Benefit Analyses (C- BAs ). AMSAA also developed

  17. ANTHROPIC RISK ASSESSMENT ON BIODIVERSITY

    OpenAIRE

    2014-01-01

    This paper presents a methodology for risk assessment of anthropic activities on habitats and species. The method has been developed for Veneto Region, in order to simplify and improve the quality of EIA procedure (VINCA). Habitats and species, animals and plants, are protected by European Directive 92/43/EEC and 2009/147/EC but they are subject at hazard due to pollution produced by human activities. Biodiversity risks may conduct to deterioration and disturbance in ecological niche...

  18. Tsunami risk assessment in Indonesia

    Directory of Open Access Journals (Sweden)

    G. Strunz

    2011-01-01

    Full Text Available In the framework of the German Indonesian Tsunami Early Warning System (GITEWS the assessment of tsunami risk is an essential part of the overall activities. The scientific and technical approach for the tsunami risk assessment has been developed and the results are implemented in the national Indonesian Tsunami Warning Centre and are provided to the national and regional disaster management and spatial planning institutions in Indonesia.

    The paper explains the underlying concepts and applied methods and shows some of the results achieved in the GITEWS project (Rudloff et al., 2009. The tsunami risk assessment has been performed at an overview scale at sub-national level covering the coastal areas of southern Sumatra, Java and Bali and also on a detailed scale in three pilot areas. The results are provided as thematic maps and GIS information layers for the national and regional planning institutions. From the analyses key parameters of tsunami risk are derived, which are integrated and stored in the decision support system of the national Indonesian Early Warning Centre. Moreover, technical descriptions and guidelines were elaborated to explain the developed approach, to allow future updates of the results and the further development of the methodologies, and to enable the local authorities to conduct tsunami risk assessment by using their own resources.

  19. Safety assessment of genetically modified foods

    NARCIS (Netherlands)

    Kleter, G.A.; Noordam, M.Y.

    2016-01-01

    The cultivation of genetically modified (GM) crops has steadily increased since their introduction to the market in the mid-1990s. Before these crops can be grown and sold they have to obtain regulatory approval in many countries, the process of which includes a pre-market safety assessment. The foo

  20. Dynamical systems probabilistic risk assessment.

    Energy Technology Data Exchange (ETDEWEB)

    Denman, Matthew R.; Ames, Arlo Leroy

    2014-03-01

    Probabilistic Risk Assessment (PRA) is the primary tool used to risk-inform nuclear power regulatory and licensing activities. Risk-informed regulations are intended to reduce inherent conservatism in regulatory metrics (e.g., allowable operating conditions and technical specifications) which are built into the regulatory framework by quantifying both the total risk profile as well as the change in the risk profile caused by an event or action (e.g., in-service inspection procedures or power uprates). Dynamical Systems (DS) analysis has been used to understand unintended time-dependent feedbacks in both industrial and organizational settings. In dynamical systems analysis, feedback loops can be characterized and studied as a function of time to describe the changes to the reliability of plant Structures, Systems and Components (SSCs). While DS has been used in many subject areas, some even within the PRA community, it has not been applied toward creating long-time horizon, dynamic PRAs (with time scales ranging between days and decades depending upon the analysis). Understanding slowly developing dynamic effects, such as wear-out, on SSC reliabilities may be instrumental in ensuring a safely and reliably operating nuclear fleet. Improving the estimation of a plant's continuously changing risk profile will allow for more meaningful risk insights, greater stakeholder confidence in risk insights, and increased operational flexibility.

  1. Dynamical systems probabilistic risk assessment

    Energy Technology Data Exchange (ETDEWEB)

    Denman, Matthew R. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Ames, Arlo Leroy [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States)

    2014-03-01

    Probabilistic Risk Assessment (PRA) is the primary tool used to risk-inform nuclear power regulatory and licensing activities. Risk-informed regulations are intended to reduce inherent conservatism in regulatory metrics (e.g., allowable operating conditions and technical specifications) which are built into the regulatory framework by quantifying both the total risk profile as well as the change in the risk profile caused by an event or action (e.g., in-service inspection procedures or power uprates). Dynamical Systems (DS) analysis has been used to understand unintended time-dependent feedbacks in both industrial and organizational settings. In dynamical systems analysis, feedback loops can be characterized and studied as a function of time to describe the changes to the reliability of plant Structures, Systems and Components (SSCs). While DS has been used in many subject areas, some even within the PRA community, it has not been applied toward creating long-time horizon, dynamic PRAs (with time scales ranging between days and decades depending upon the analysis). Understanding slowly developing dynamic effects, such as wear-out, on SSC reliabilities may be instrumental in ensuring a safely and reliably operating nuclear fleet. Improving the estimation of a plant's continuously changing risk profile will allow for more meaningful risk insights, greater stakeholder confidence in risk insights, and increased operational flexibility.

  2. Effect of framing on the perception of genetic recurrence risks.

    Science.gov (United States)

    Shiloh, S; Sagi, M

    1989-05-01

    Individuals asked to evaluate genetic recurrence risks were found to be influenced by the way the risks were framed. Presenting a single risk figure resulted in overweighting of low probabilities and underweighting of high probabilities, as compared to presenting a list of sequential risks. Differences were also found between meanings attached to verbal expressions of risks when translating from verbal to numerical expressions, and vice versa. The implications of these findings for genetic counseling are discussed.

  3. Integrated Disposal Facility Risk Assessment

    Energy Technology Data Exchange (ETDEWEB)

    MANN, F. M.

    2003-06-03

    An environmental risk assessment associated with the disposal of projected Immobilized Low-Activity Waste, solid wastes and failed or decommissioned melters in an Integrated Disposal Facility was performed. Based on the analyses all performance objectives associated with the groundwater, air, and intruder pathways were met.

  4. Closing the loop: an interactive action-research conference format for delivering updated medical information while eliciting Latina patient/family experiences and psychosocial needs post-genetic cancer risk assessment.

    Science.gov (United States)

    Macdonald, Deborah J; Deri, Julia; Ricker, Charité; Perez, Martin A; Ogaz, Raquel; Feldman, Nancy; Viveros, Lori A; Paz, Benjamin; Weitzel, Jeffrey N; Blazer, Kathleen R

    2012-09-01

    A patient/family-centered conference was conducted at an underserved community hospital to address Latinas' post-genetic cancer risk assessment (GCRA) medical information and psychosocial support needs, and determine the utility of the action research format. Latinas seen for GCRA were recruited to a half-day conference conducted in Spanish. Content was partly determined from follow-up survey feedback. Written surveys, interactive discussions, and Audience Response System (ARS) queries facilitated the participant-healthcare professional action research process. Analyses included descriptive statistics and thematic analysis. The 71 attendees (41 patients and 27 relatives/friends) were primarily non-US born Spanish-speaking females, mean age 43 years. Among patients, 73 % had a breast cancer history; 85 % had BRCA testing (49 % BRCA+). Nearly all (96 %) attendees completed the conference surveys and ARS queries; ≥48 % participated in interactive discussions. Most (95 %) agreed that the format met their personal interests and expectations and provided useful information and resources. Gaps/challenges identified in the GCRA process included pre-consult anxiety, uncertainty about reason for referral and expected outcomes, and psychosocial needs post-GCRA, such as absorbing and disseminating risk information to relatives and concurrently coping with a recent cancer diagnosis. The combined action research and educational conference format was innovative and effective for responding to continued patient information needs and addressing an important data gap about support needs of Latina patients and family members following genetic cancer risk assessment. Findings informed GCRA process improvements and provide a basis for theory-driven cancer control research.

  5. Caries risk assessment in children

    DEFF Research Database (Denmark)

    Twetman, S

    2016-01-01

    (recommendation levels A-D). RESULTS: Three SR, three guidelines, and five papers, not considered in previous SR, were identified and formed the base for the present summary and recommendations. One of the systematic reviews and three of the primary publications were of moderate risk of bias, while the rest......PURPOSE: To summarise the findings of recent systematic reviews (SR) covering caries risk assessment in children, updated with recent primary studies. METHODS: A search for relevant papers published 2012-2014 was conducted in electronic databases. The systematic reviews were quality assessed...... with the AMSTAR tool and the primary publications according to the Cochrane handbook. The quality was rated as low, moderate, or high risk of bias. The findings were descriptively synthesised and the quality of evidence was graded according to GRADE. For the recommendations of practice, the SIGN scores were used...

  6. Cancer risk assessment foundation unraveling: new historical evidence reveals that the US National Academy of Sciences (US NAS), Biological Effects of Atomic Radiation (BEAR) Committee Genetics Panel falsified the research record to promote acceptance of the LNT.

    Science.gov (United States)

    Calabrese, Edward J

    2015-04-01

    The NAS Genetics Panel (1956) recommended a switch from a threshold to a linear dose response for radiation risk assessment. To support this recommendation, geneticists on the panel provided individual estimates of the number of children in subsequent generations (one to ten) that would be adversely affected due to transgenerational reproductive cell mutations. It was hoped that there would be close agreement among the individual risk estimates. However, extremely large ranges of variability and uncertainty characterized the wildly divergent expert estimates. The panel members believed that sharing these estimates with the scientific community and general public would strongly undercut their linearity recommendation, as it would have only highlighted their own substantial uncertainties. Essentially, their technical report in the journal Science omitted and misrepresented key adverse reproductive findings in an effort to ensure support for their linearity recommendation. These omissions and misrepresentations not only belie the notion of an impartial and independent appraisal by the NAS Panel, but also amount to falsification and fabrication of the research record at the highest possible level, leading ultimately to the adoption of LNT by governments worldwide. Based on previously unexamined correspondence among panel members and Genetics Panel meeting transcripts, this paper provides the first documentation of these historical developments.

  7. 24 CFR 35.315 - Risk assessment.

    Science.gov (United States)

    2010-04-01

    ... 24 Housing and Urban Development 1 2010-04-01 2010-04-01 false Risk assessment. 35.315 Section 35... Provided by a Federal Agency Other Than HUD § 35.315 Risk assessment. Each owner shall complete a risk assessment in accordance with 40 CFR 745.227(d). Each risk assessment shall be completed in accordance with...

  8. An approach to risk assessment

    DEFF Research Database (Denmark)

    Simonsen, L.; Lund, S. P.; Hass, Ulla

    1998-01-01

    A strategy for delineating risk factors from use of neurotoxic chemicals was applied to the Danish working environment. An analysis using this strategy disclosed the need for internationally adopted criteria for neurotoxicity, and consequently a working group was established by the Nordic Council...... in the nineties. Different approaches to risk assessment are discussed, the quality of the databases available for hazard assessment are evaluated, and the needs for further research are identified. (C) 1996 Intox Press, Inc.......A strategy for delineating risk factors from use of neurotoxic chemicals was applied to the Danish working environment. An analysis using this strategy disclosed the need for internationally adopted criteria for neurotoxicity, and consequently a working group was established by the Nordic Council...... indicate that numerous persons are exposed in the working as well as in the general environment to several chemicals, for which almost no data on the effect on subtle neurophysiological functions are available. Development of an approach to risk assessment dealing with this problem is a major challenge...

  9. A weighted genetic risk score using all known susceptibility variants to estimate rheumatoid arthritis risk

    Science.gov (United States)

    Yarwood, Annie; Han, Buhm; Raychaudhuri, Soumya; Bowes, John; Lunt, Mark; Pappas, Dimitrios A; Kremer, Joel; Greenberg, Jeffrey D; Plenge, Robert; Worthington, Jane; Barton, Anne; Eyre, Steve

    2015-01-01

    Background There is currently great interest in the incorporation of genetic susceptibility loci into screening models to identify individuals at high risk of disease. Here, we present the first risk prediction model including all 46 known genetic loci associated with rheumatoid arthritis (RA). Methods A weighted genetic risk score (wGRS) was created using 45 RA non-human leucocyte antigen (HLA) susceptibility loci, imputed amino acids at HLA-DRB1 (11, 71 and 74), HLA-DPB1 (position 9) HLA-B (position 9) and gender. The wGRS was tested in 11 366 RA cases and 15 489 healthy controls. The risk of developing RA was estimated using logistic regression by dividing the wGRS into quintiles. The ability of the wGRS to discriminate between cases and controls was assessed by receiver operator characteristic analysis and discrimination improvement tests. Results Individuals in the highest risk group showed significantly increased odds of developing anti-cyclic citrullinated peptide-positive RA compared to the lowest risk group (OR 27.13, 95% CI 23.70 to 31.05). The wGRS was validated in an independent cohort that showed similar results (area under the curve 0.78, OR 18.00, 95% CI 13.67 to 23.71). Comparison of the full wGRS with a wGRS in which HLA amino acids were replaced by a HLA tag single-nucleotide polymorphism showed a significant loss of sensitivity and specificity. Conclusions Our study suggests that in RA, even when using all known genetic susceptibility variants, prediction performance remains modest; while this is insufficiently accurate for general population screening, it may prove of more use in targeted studies. Our study has also highlighted the importance of including HLA variation in risk prediction models. PMID:24092415

  10. Uncertainties in risk assessment at USDOE facilities

    Energy Technology Data Exchange (ETDEWEB)

    Hamilton, L.D.; Holtzman, S.; Meinhold, A.F.; Morris, S.C.; Rowe, M.D.

    1994-01-01

    The United States Department of Energy (USDOE) has embarked on an ambitious program to remediate environmental contamination at its facilities. Decisions concerning cleanup goals, choices among cleanup technologies, and funding prioritization should be largely risk-based. Risk assessments will be used more extensively by the USDOE in the future. USDOE needs to develop and refine risk assessment methods and fund research to reduce major sources of uncertainty in risk assessments at USDOE facilities. The terms{open_quote} risk assessment{close_quote} and{open_quote} risk management{close_quote} are frequently confused. The National Research Council (1983) and the United States Environmental Protection Agency (USEPA, 1991a) described risk assessment as a scientific process that contributes to risk management. Risk assessment is the process of collecting, analyzing and integrating data and information to identify hazards, assess exposures and dose responses, and characterize risks. Risk characterization must include a clear presentation of {open_quotes}... the most significant data and uncertainties...{close_quotes} in an assessment. Significant data and uncertainties are {open_quotes}...those that define and explain the main risk conclusions{close_quotes}. Risk management integrates risk assessment information with other considerations, such as risk perceptions, socioeconomic and political factors, and statutes, to make and justify decisions. Risk assessments, as scientific processes, should be made independently of the other aspects of risk management (USEPA, 1991a), but current methods for assessing health risks are based on conservative regulatory principles, causing unnecessary public concern and misallocation of funds for remediation.

  11. Uncertainties in risk assessment at USDOE facilities

    Energy Technology Data Exchange (ETDEWEB)

    Hamilton, L.D.; Holtzman, S.; Meinhold, A.F.; Morris, S.C.; Rowe, M.D.

    1994-01-01

    The United States Department of Energy (USDOE) has embarked on an ambitious program to remediate environmental contamination at its facilities. Decisions concerning cleanup goals, choices among cleanup technologies, and funding prioritization should be largely risk-based. Risk assessments will be used more extensively by the USDOE in the future. USDOE needs to develop and refine risk assessment methods and fund research to reduce major sources of uncertainty in risk assessments at USDOE facilities. The terms{open_quote} risk assessment{close_quote} and{open_quote} risk management{close_quote} are frequently confused. The National Research Council (1983) and the United States Environmental Protection Agency (USEPA, 1991a) described risk assessment as a scientific process that contributes to risk management. Risk assessment is the process of collecting, analyzing and integrating data and information to identify hazards, assess exposures and dose responses, and characterize risks. Risk characterization must include a clear presentation of {open_quotes}... the most significant data and uncertainties...{close_quotes} in an assessment. Significant data and uncertainties are {open_quotes}...those that define and explain the main risk conclusions{close_quotes}. Risk management integrates risk assessment information with other considerations, such as risk perceptions, socioeconomic and political factors, and statutes, to make and justify decisions. Risk assessments, as scientific processes, should be made independently of the other aspects of risk management (USEPA, 1991a), but current methods for assessing health risks are based on conservative regulatory principles, causing unnecessary public concern and misallocation of funds for remediation.

  12. Automating Spreadsheet Discovery & Risk Assessment

    CERN Document Server

    Perry, Eric

    2008-01-01

    There have been many articles and mishaps published about the risks of uncontrolled spreadsheets in today's business environment, including non-compliance, operational risk, errors, and fraud all leading to significant loss events. Spreadsheets fall into the realm of end user developed applications and are often absent the proper safeguards and controls an IT organization would enforce for enterprise applications. There is also an overall lack of software programming discipline enforced in how spreadsheets are developed. However, before an organization can apply proper controls and discipline to critical spreadsheets, an accurate and living inventory of spreadsheets across the enterprise must be created, and all critical spreadsheets must be identified. As such, this paper proposes an automated approach to the initial stages of the spreadsheet management lifecycle - discovery, inventory and risk assessment. Without the use of technology, these phases are often treated as a one-off project. By leveraging techn...

  13. Risk Assessment Terminology: Risk Communication Part 2.

    Science.gov (United States)

    Liuzzo, Gaetano; Bentley, Stefano; Giacometti, Federica; Piva, Silvia; Serraino, Andrea

    2016-04-19

    The paper describes the terminology of risk communication in the view of food safety: different aspects of risk perception (perceived risk, media triggers, the psychometric paradigm, fright factors and cultural determinants of risk perception) are described. The risk profile elements are illustrated in the manuscript: hazard-food commodity combination(s) of concern; description of the public health problem; food production, processing, distribution and consumption; needs and questions for the risk assessors; available information and major knowledge gaps and other risk profile elements.

  14. Risk assessment terminology: risk communication part 2

    Directory of Open Access Journals (Sweden)

    Gaetano Liuzzo

    2016-04-01

    Full Text Available The paper describes the terminology of risk communication in the view of food safety: different aspects of risk perception (perceived risk, media triggers, the psychometric paradigm, fright factors and cultural determinants of risk perception are described. The risk profile elements are illustrated in the manuscript: hazard-food commodity combination(s of concern; description of the public health problem; food production, processing, distribution and consumption; needs and questions for the risk assessors; available information and major knowledge gaps and other risk profile elements.

  15. Application of omics technologies for environmental risk assessment of genetically modified plants : arabidopsis and modified defence mechanisms as a model study

    NARCIS (Netherlands)

    Houshyani Hassanzadeh, B.

    2012-01-01

    As a result of rapid biotechnological developments in the past century, genetically modified (GM) crops were developed and introduced for field application. Despite the advantages of these crops and the professional marketing policies, people also started questioning the safety of GM products for

  16. Application of omics technologies for environmental risk assessment of genetically modified plants : arabidopsis and modified defence mechanisms as a model study

    NARCIS (Netherlands)

    Houshyani Hassanzadeh, B.

    2012-01-01

    As a result of rapid biotechnological developments in the past century, genetically modified (GM) crops were developed and introduced for field application. Despite the advantages of these crops and the professional marketing policies, people also started questioning the safety of GM products for hu

  17. Yakima/Klickitat Production Project Preliminary Design Report, Appendix A: Refined Project Goals and Harvest Managment Plan : Experimental Design Plan : Genetic Risk Assessment.

    Energy Technology Data Exchange (ETDEWEB)

    Yakima Indian Nation; Pacific Northwest Laboratory; Washington Department of Fisheries

    1990-03-01

    The purpose of the project as stated by the Northwest Power Planning Council is 'to test the assumption that new artificial production in the Yakima and Klickitat subbasins can be used to increase harvest and enhance natural production while maintaining genetic resources.'

  18. Can Systematic Reviews Inform GMO Risk Assessment and Risk Management?

    Science.gov (United States)

    Kohl, Christian; Frampton, Geoff; Sweet, Jeremy; Spök, Armin; Haddaway, Neal Robert; Wilhelm, Ralf; Unger, Stefan; Schiemann, Joachim

    2015-01-01

    Systematic reviews represent powerful tools to identify, collect, synthesize, and evaluate primary research data on specific research questions in a highly standardized and reproducible manner. They enable the defensible synthesis of outcomes by increasing precision and minimizing bias whilst ensuring transparency of the methods used. This makes them especially valuable to inform evidence-based risk analysis and decision making in various topics and research disciplines. Although seen as a “gold standard” for synthesizing primary research data, systematic reviews are not without limitations as they are often cost, labor and time intensive and the utility of synthesis outcomes depends upon the availability of sufficient and robust primary research data. In this paper, we (1) consider the added value systematic reviews could provide when synthesizing primary research data on genetically modified organisms (GMO) and (2) critically assess the adequacy and feasibility of systematic review for collating and analyzing data on potential impacts of GMOs in order to better inform specific steps within GMO risk assessment and risk management. The regulatory framework of the EU is used as an example, although the issues we discuss are likely to be more widely applicable. PMID:26322307

  19. Can systematic reviews inform GMO risk assessment and risk management?

    Directory of Open Access Journals (Sweden)

    Christian eKohl

    2015-08-01

    Full Text Available Systematic reviews represent powerful tools to identify, collect, synthesize and evaluate primary research data on specific research questions in a highly standardized and reproducible manner. They enable the defensible synthesis of outcomes by increasing precision and minimizing bias whilst ensuring transparency of the methods used. This makes them especially valuable to inform evidence-based risk analysis and decision making in various topics and research disciplines. Although seen as a gold standard for synthesizing primary research data, systematic reviews are not without limitations as they are often cost, labor and time intensive and the utility of synthesis outcomes depends upon the availability of sufficient and robust primary research data. In this paper we 1 consider the added value systematic reviews could provide when synthesizing primary research data on genetically modified organisms (GMO and 2 critically assess the adequacy and feasibility of systematic review for collating and analyzing data on potential impacts of GMOs in order to better inform specific steps within GMO risk assessment and risk management. The regulatory framework of the EU is used as an example, although the issues we discuss are likely to be more widely applicable.

  20. Can Systematic Reviews Inform GMO Risk Assessment and Risk Management?

    Science.gov (United States)

    Kohl, Christian; Frampton, Geoff; Sweet, Jeremy; Spök, Armin; Haddaway, Neal Robert; Wilhelm, Ralf; Unger, Stefan; Schiemann, Joachim

    2015-01-01

    Systematic reviews represent powerful tools to identify, collect, synthesize, and evaluate primary research data on specific research questions in a highly standardized and reproducible manner. They enable the defensible synthesis of outcomes by increasing precision and minimizing bias whilst ensuring transparency of the methods used. This makes them especially valuable to inform evidence-based risk analysis and decision making in various topics and research disciplines. Although seen as a "gold standard" for synthesizing primary research data, systematic reviews are not without limitations as they are often cost, labor and time intensive and the utility of synthesis outcomes depends upon the availability of sufficient and robust primary research data. In this paper, we (1) consider the added value systematic reviews could provide when synthesizing primary research data on genetically modified organisms (GMO) and (2) critically assess the adequacy and feasibility of systematic review for collating and analyzing data on potential impacts of GMOs in order to better inform specific steps within GMO risk assessment and risk management. The regulatory framework of the EU is used as an example, although the issues we discuss are likely to be more widely applicable.

  1. Survey of mental health nurses' attitudes towards risk assessment, risk assessment tools and positive risk.

    Science.gov (United States)

    Downes, C; Gill, A; Doyle, L; Morrissey, J; Higgins, A

    2016-04-01

    WHAT IS KNOWN ON THE SUBJECT?: Risk assessment and safety planning are a core aspect of the role of the mental health nurse. Conflicting views exist on the value of risk assessment tools. Few studies have examined mental health nurses' attitudes towards risk, including use of tools and the role of positive risk in recovery. WHAT THE PAPER ADDS TO EXISTING KNOWLEDGE?: Mental health nurses view risk assessment as a core dimension of their role and not merely an exercise to fulfil organizational clinical safety and governance obligations. The majority of nurses hold positive attitudes towards therapeutic or positive risk, and consider creative risk taking as vital to people's recovery. The majority of nurses believe that risk assessment tools facilitate professional decision making, however, some are concerned that tools may negatively impact upon therapeutic relationships. WHAT ARE THE IMPLICATIONS FOR PRACTICE?: Ongoing education on the use of risk assessment tools is required to minimize views that their use is incompatible with therapeutic engagement, and to enable nurses to develop confidence to engage with positive risk and to allow service users make decisions and take responsibility. Introduction Risk assessment and safety planning are considered core components of the role of the mental health nurse; however, little is known about nurses' attitudes towards risk assessment, use of tools to assess risk or therapeutic risk taking. Aim This study aimed to explore mental health nurses' attitudes towards completing risk assessments, use of tools as an aid, and therapeutic or positive risk. Method An anonymous survey which included 13 attitudinal statements, rated on a five-point Likert scale, was completed by 381 mental health nurses working in adult services in Ireland. Findings Findings indicate strong support for the practice of risk assessment in mental health practice. The vast majority of nurses believe that risk assessment tools facilitate professional

  2. Risk Assessment of Shellfish Toxins

    Directory of Open Access Journals (Sweden)

    Rex Munday

    2013-11-01

    Full Text Available Complex secondary metabolites, some of which are highly toxic to mammals, are produced by many marine organisms. Some of these organisms are important food sources for marine animals and, when ingested, the toxins that they produce may be absorbed and stored in the tissues of the predators, which then become toxic to animals higher up the food chain. This is a particular problem with shellfish, and many cases of poisoning are reported in shellfish consumers each year. At present, there is no practicable means of preventing uptake of the toxins by shellfish or of removing them after harvesting. Assessment of the risk posed by such toxins is therefore required in order to determine levels that are unlikely to cause adverse effects in humans and to permit the establishment of regulatory limits in shellfish for human consumption. In the present review, the basic principles of risk assessment are described, and the progress made toward robust risk assessment of seafood toxins is discussed. While good progress has been made, it is clear that further toxicological studies are required before this goal is fully achieved.

  3. Total cardiovascular disease risk assessment: a review.

    LENUS (Irish Health Repository)

    Cooney, Marie Therese

    2011-09-01

    The high risk strategy for the prevention of cardiovascular disease (CVD) requires an assessment of an individual\\'s total CVD risk so that the most intensive risk factor management can be directed towards those at highest risk. Here we review developments in the assessment and estimation of total CVD risk.

  4. Genetic tests to identify risk for breast cancer.

    Science.gov (United States)

    Lynch, Julie A; Venne, Vickie; Berse, Brygida

    2015-05-01

    To describe the currently available genetic tests that identify hereditary risk for breast cancer. Systematic review of scientific literature, clinical practice guidelines, and data published by test manufacturers. Changes in gene patent laws and advances in sequencing technologies have resulted in rapid expansion of genetic testing. While BRCA1/2 are the most recognized genes linked to breast cancer, several laboratories now offer multi-gene panels to detect many risk-related mutations. Genetic testing will be increasingly important in the prevention, diagnosis, and treatment of breast cancer. Oncology and advanced practice nurses must understand risk factors, significance of various genetic tests, and patient counseling. Published by Elsevier Inc.

  5. [Risk assessment in pain therapy].

    Science.gov (United States)

    Schoeffel, D; Casser, H R; Bach, M; Kress, H G; Likar, R; Locher, H; Steinleitner, W; Strohmeier, M; Brunner, H; Treede, R D; Zieglgänsberger, W; Sandkühler, J

    2008-10-01

    Analgesic therapy is not without risk. However, the risk of most analgesic interventions is minor compared to the risk of the inadequate treatment of pain and insufficient treatment may lead to chronic pain.A correct diagnosis should be the basis of any specific treatment of pain disorders. Only a diagnosis which implicates a multi-disciplinary assessment and which considers both the pathoanatomical, functional and biopsychosocial dysfunctions can lead to an adequate therapeutic intervention. Furthermore, therapeutic planning should include the personal needs of the patient and should have realistic aims.Pharmacological treatment is guided by the WHO pain ladder. The risks of the relevant substance groups must be considered. NSAIDs (non-steroidal anti-inflammatory drugs) which are included in all steps of the WHO pain ladder carry specific risks for the gastrointestinal, cardiovascular and renal systems and are contraindicated in many patients in need of analgesic therapy, e.g. in many elderly patients. Opioids which are recommended at steps 2 and 3 of the WHO pain ladder have less organ toxicity but they are still used reluctantly. Coanalgetics, especially antidepressants bear specific risks and the discussion on suicide rates under antidepressant medication is ongoing.Invasive methods such as the intrathecal application of analgesics are valuable procedures if the indication is correct and the treating physician has sufficient experience. Pain therapy is essential and the risks of the procedures are manageable. Considering the current knowledge on the mechanisms of pain sensitisation, the lack of adequate pain control can lead to chronic pain with severe consequences for the patient.

  6. Perceptions of genetic discrimination among people at risk for Huntington’s disease: a cross sectional survey

    OpenAIRE

    Bombard, Yvonne; Veenstra, Gerry; FRIEDMAN, JAN M.; Creighton, Susan; Currie, Lauren; Paulsen, Jane S.; Joan L. Bottorff; Hayden, Michael R.

    2009-01-01

    Objective To assess the nature and prevalence of genetic discrimination experienced by people at risk for Huntington’s disease who had undergone genetic testing or remained untested. Design Cross sectional, self reported survey. Setting Seven genetics and movement disorders clinics servicing rural and urban communities in Canada. Participants 233 genetically tested and untested asymptomatic people at risk for Huntington’s disease (response rate 80%): 167 underwent testing (83 had the Huntingt...

  7. The Application of Genetic Risk Scores in Age-Related Macular Degeneration: A Review

    Directory of Open Access Journals (Sweden)

    Jessica N. Cooke Bailey

    2016-03-01

    Full Text Available Age-related macular degeneration (AMD, a highly prevalent and impactful disease of aging, is inarguably influenced by complex interactions between genetic and environmental factors. Various risk scores have been tested that assess measurable genetic and environmental contributions to disease. We herein summarize and review the ability and utility of these numerous models for prediction of AMD and suggest additional risk factors to be incorporated into clinically useful predictive models of AMD.

  8. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

    DEFF Research Database (Denmark)

    Milne, Roger L; Gaudet, Mia M; Spurdle, Amanda B

    2010-01-01

    Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence breast cancer risk in white women of European ancestry using case-control studies participating...

  9. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

    DEFF Research Database (Denmark)

    Milne, Roger L; Gaudet, Mia M; Spurdle, Amanda B

    2010-01-01

    Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence breast cancer risk in white women of European ancestry using case-control studies participating in th...

  10. Enterprise Projects Set Risk Element Transmission Chaotic Genetic Model

    Directory of Open Access Journals (Sweden)

    Cunbin Li

    2012-08-01

    Full Text Available In order to research projects set risk transfer process and improve risk management efficiency in projects management, combining chaos theory and genetic algorithm, put forward enterprise projects set risk element transmission chaos genetic model. Using logistic chaos mapping and chebyshev chaos mapping mixture, constructed a hybrid chaotic mapping system. The steps of adopting hybrid chaos mapping for genetic operation include projects set initialization, calculation of fitness, selection, crossover and mutation operators, fitness adjustment and condition judgment. The results showed that the model can simulate enterprise projects set risk transmission process very well and it also provides the basis for the enterprise managers to make decisions.

  11. Return of individual genetic results in a high-risk sample: enthusiasm and positive behavioral change.

    Science.gov (United States)

    Hartz, Sarah M; Olfson, Emily; Culverhouse, Robert; Cavazos-Rehg, Patricia; Chen, Li-Shiun; DuBois, James; Fisher, Sherri; Kaphingst, Kimberly; Kaufman, David; Plunk, Andrew; Ramnarine, Shelina; Solomon, Stephanie; Saccone, Nancy L; Bierut, Laura J

    2015-05-01

    The goal of this study was to examine participant responses to disclosure of genetic results in a minority population at high risk for depression and anxiety. Eighty-two subjects in a genetic study of nicotine dependence were offered personalized genetic results. All were nicotine-dependent and 64% self-identified as African American. Pathway Genomics was used to evaluate genetic risks for five complex diseases. Participants returned 4-8 weeks after enrollment for in-person genetic counseling interviews and evaluation of baseline measures. A telephone follow-up was performed 4-8 weeks later to assess responses to results. Fifty of the 82 subjects (61%) were interested in receiving genetic results. These participants had multiple risk factors, including high baseline measures of depression (66%) and anxiety (32%), as well as low rates of employment (46%), adequate health literacy (46%), and health insurance (45%). Pathway Genomics reported "increased risk" for at least one disease in 77% of subjects. Ninety-five percent of participants reported that they appreciated the genetic results, and receiving these results was not associated with changes in symptoms of depression or anxiety. Furthermore, after return of genetic results, smoking cessation attempts increased (P = 0.003). Even in an underserved population at high risk for adverse psychological reactions, subjects responded positively to personalized genetic results.

  12. Arranging marriage; negotiating risk: genetics and society in Qatar.

    Science.gov (United States)

    Kilshaw, Susie; Al Raisi, Tasneem; Alshaban, Fouad

    2015-01-01

    This paper considers how the globalized discourse of genetic risk in cousin marriage is shaped, informed and taken up in local moral worlds within the context of Qatar. This paper investigates the way Qataris are negotiating the discourse on genetics and risk. It is based on data from ongoing ethnographic research in Qatar and contributes to anthropological knowledge about this understudied country. Participants were ambivalent about genetic risks and often pointed to other theories of causation in relation to illness and disability. The discourse on genetic risk associated with marrying in the family was familiar, but for some participants the benefits of close marriage outweighed potential risks. Furthermore, the introduction of mandatory pre-marital screening gave participants confidence that risks were monitored and minimized.

  13. Environmental risk assessment in GMO analysis.

    Science.gov (United States)

    Pirondini, Andrea; Marmiroli, Nelson

    2010-01-01

    Genetically modified or engineered organisms (GMOs, GEOs) are utilised in agriculture, expressing traits of interest, such as insect or herbicide resistance. Soybean, maize, cotton and oilseed rape are the GM crops with the largest acreage in the world. The distribution of GM acreage in the different countries is related with the different positions concerning labelling of GMO products: based on the principle of substantial equivalence, or rather based on the precautionary principle. The paper provides an overview on how the risks associated with release of GMO in the environments can be analysed and predicted, in view of a possible coexistence of GM and non-GM organisms in agriculture.Risk assessment procedures, both qualitative and quantitative, are compared in the context of application to GMOs considering also legislation requirements (Directive 2001/18/EC). Criteria and measurable properties to assess harm for human health and environmental safety are listed, and the possible consequences are evaluated in terms of significance.Finally, a mapping of the possible risks deriving from GMO release is reported, focusing on gene transfer to related species, horizontal gene transfer, direct and indirect effects on non target organisms, development of resistance in target organisms, and effects on biodiversity.

  14. Can Public Health Risk Assessment Using Risk Matrices Be Misleading?

    Science.gov (United States)

    Vatanpour, Shabnam; Hrudey, Steve E; Dinu, Irina

    2015-08-14

    The risk assessment matrix is a widely accepted, semi-quantitative tool for assessing risks, and setting priorities in risk management. Although the method can be useful to promote discussion to distinguish high risks from low risks, a published critique described a problem when the frequency and severity of risks are negatively correlated. A theoretical analysis showed that risk predictions could be misleading. We evaluated a practical public health example because it provided experiential risk data that allowed us to assess the practical implications of the published concern that risk matrices would make predictions that are worse than random. We explored this predicted problem by constructing a risk assessment matrix using a public health risk scenario-Tainted blood transfusion infection risk-That provides negative correlation between harm frequency and severity. We estimated the risk from the experiential data and compared these estimates with those provided by the risk assessment matrix. Although we validated the theoretical concern, for these authentic experiential data, the practical scope of the problem was limited. The risk matrix has been widely used in risk assessment. This method should not be abandoned wholesale, but users must address the source of the problem, apply the risk matrix with a full understanding of this problem and use matrix predictions to inform, but not drive decision-making.

  15. The potential of large studies for building genetic risk prediction models

    Science.gov (United States)

    NCI scientists have developed a new paradigm to assess hereditary risk prediction in common diseases, such as prostate cancer. This genetic risk prediction concept is based on polygenic analysis—the study of a group of common DNA sequences, known as singl

  16. Genetic variants of adiponectin and risk of colorectal cancer

    Science.gov (United States)

    Song, Mingyang; Gong, Jian; Giovannucci, Edward L.; Berndt, Sonja I.; Brenner, Hermann; Chang-Claude, Jenny; Curtis, Keith R.; Harrison, Tabitha A.; Hoffmeister, Michael; Hsu, Li; Jiao, Shuo; Le Marchand, Loic; Potter, John D.; Schoen, Robert E.; Seminara, Daniela; Slattery, Martha L.; White, Emily; Wu, Kana; Ogino, Shuji; Fuchs, Charles S.; Hunter, David J.; Tworoger, Shelley S.; Hu, Frank B.; Rimm, Eric; Jensen, Majken; Peters, Ulrike; Chan, Andrew T.

    2014-01-01

    Circulating adiponectin has been associated with lower risk of colorectal cancer (CRC). Genome-wide association studies have identified several single-nucleotide polymorphisms (SNPs) associated with adiponectin levels. However, it is unclear whether these SNPs are associated with CRC risk. In addition, previous data on SNPs in the adiponectin pathway and their associations with CRC are inconsistent. Therefore, we examined 19 SNPs in genes related to adiponectin or its receptors and their associations with CRC using logistic regression among 7,020 cases and 7,631 controls drawn from 10 studies included in the Genetics and Epidemiology of Colorectal Cancer Consortium. Using data from a subset of two large cohort studies, we also assessed the contribution of individual SNPs and an adiponectin genetic score to plasma adiponectin after accounting for lifestyle factors among 2,217 women and 619 men. We did not find any statistically significant association between the 19 adiponectin-associated SNPs and CRC risk (multivariable-adjusted odds ratios ranged from 0.89 to 1.05, all P > 0.05). Each SNP explained less than 2.50% of the variance of plasma adiponectin, and the genetic score collectively accounted for 2.95% and 1.42% of the variability of adiponectin in women and men, respectively, after adjustment for age, body mass index, physical activity, smoking, alcohol consumption, regular use of aspirin or non-steroidal anti-inflammatory drug and postmenopausal hormone use. In conclusion, our findings do not support an association between known adiponectin-related common SNPs and CRC incidence. However, known common SNPs account for only a limited proportion of the interindividual variance in circulating adiponectin. Further work is warranted to investigate the relationship between adiponectin and CRC while accounting for other components in the pathway. PMID:25431318

  17. RISK MANAGEMENT: AN INTEGRATED APPROACH TO RISK MANAGEMENT AND ASSESSMENT

    Directory of Open Access Journals (Sweden)

    Szabo Alina

    2012-12-01

    Full Text Available Purpose: The objective of this paper is to offer an overview over risk management cycle by focusing on prioritization and treatment, in order to ensure an integrated approach to risk management and assessment, and establish the ‘top 8-12’ risks report within the organization. The interface with Internal Audit is ensured by the implementation of the scoring method to prioritize risks collected from previous generated risk report. Methodology/approach: Using evidence from other research in the area and the professional expertise, this article outlines an integrated approach to risk assessment and risk management reporting processes, by separating the risk in two main categories: strategic and operational risks. The focus is on risk prioritization and scoring; the final output will comprise a mix of strategic and operational (‘top 8-12’ risks, which should be used to establish the annual Internal Audit plan. Originality/value: By using an integrated approach to risk assessment and risk management will eliminate the need for a separate Internal Audit risk assessment over prevailing risks. It will reduce the level of risk assessment overlap by different functions (Tax, Treasury, Information System over the same risk categories as a single methodology, is used and will align timings of risk assessment exercises. The risk prioritization by usage of risk and control scoring criteria highlights the combination between financial and non-financial impact criteria allowing risks that do not naturally lend themselves to a financial amount to be also assessed consistently. It is emphasized the usage of score method to prioritize the risks included in the annual audit plan in order to increase accuracy and timelines.

  18. The relation of risk assessment and health impact assessment

    DEFF Research Database (Denmark)

    Ádám, Balázs; Gulis, Gabriel

    2013-01-01

    their relationship. The experiences accumulated during the preparation of several case studies in a large scale international project (RAPID) are used for argumentation and formulation of recommendations on how risk assessment can be systematically integrated into the HIA process. Risk assessment uses well...... than assessing a present situation. As part of this process, however, methods applied in risk assessment are used. Risk assessment typically characterises relation of a well-defined risk factor to a well-defined health outcome. Within HIA usually several individual risk assessments are needed...... in the risk appraisal phase to describe effects of various factors on different health outcomes. Consequently, HIA is typically led by a large, preferably intersectoral steering group with representatives of communities at risk. Risk assessment, in contrary, is mainly a licensed scientific process completed...

  19. A framework for combining social impact assessment and risk assessment

    NARCIS (Netherlands)

    Mahmoudi, Hossein; Renn, Ortwin; Vanclay, Frank; Hoffmann, Volker; Karami, Ezatollah

    2013-01-01

    An increasing focus on integrative approaches is one of the current trends in impact assessment. There is potential to combine impact assessment with various other forms of assessment, such as risk assessment, to make impact assessment and the management of social risks more effective. We identify

  20. Development and Evaluation of a Genetic Risk Score for Obesity

    Science.gov (United States)

    Belsky, Daniel W.; Moffitt, Terrie E.; Sugden, Karen; Williams, Benjamin; Houts, Renate; McCarthy, Jeanette; Caspi, Avshalom

    2013-01-01

    Background Results from genome-wide association studies (GWAS) represent a potential resource for etiological and treatment research. GWAS of obesity-related phenotypes have been especially successful. To translate this success into a research tool, we developed and tested a “genetic risk score” (GRS) that summarizes an individual’s genetic predisposition to obesity. Methods Different GWAS of obesity-related phenotypes report different sets of single nucleotide polymorphisms (SNPs) as the best genomic markers of obesity risk. Therefore, we applied a 3-stage approach that pooled results from multiple GWAS to select SNPs to include in our GRS: The 3 stages are (1) Extraction. SNPs with evidence of association are compiled from published GWAS; (2) Clustering. SNPs are grouped according to patterns of linkage disequilibrium; (3) Selection. Tag SNPs are selected from clusters that meet specific criteria. We applied this 3-stage approach to results from 16 GWAS of obesity-related phenotypes in European-descent samples to create a GRS. We then tested the GRS in the Atherosclerosis Risk in the Communities (ARIC) Study cohort (N=10,745, 55% female, 77% white, 23% African American). Results Our 32-locus GRS was a statistically significant predictor of body mass index (BMI) and obesity among ARIC whites (for BMI, r=0.13, p<1×10−30; for obesity, area under the receiver operating characteristic curve (AUC)=0.57 [95% CI 0.55–0.58]). The GRS improved prediction of obesity (as measured by delta-AUC and integrated discrimination index) when added to models that included demographic and geographic information. FTO- and MC4R-linked SNPs, and a non-genetic risk assessment consisting of a socioeconomic index (p<0.01 for all comparisons). The GRS also predicted increased mortality risk over 17 years of follow-up. The GRS performed less well among African Americans. Conclusions The obesity GRS derived using our 3-stage approach is not useful for clinical risk prediction, but

  1. Risk assessment terminology: risk communication part 1

    Directory of Open Access Journals (Sweden)

    Gaetano Liuzzo

    2016-03-01

    Full Text Available The paper describes the terminology of risk communication in the view of food safety: the theory of stakeholders, the citizens’ involvement and the community interest and consultation are reported. Different aspects of risk communication (public communication, scientific uncertainty, trust, care, consensus and crisis communication are discussed.

  2. Genetic counseling for breast cancer risk: how did we get here and where are we going?

    Science.gov (United States)

    Lang, Katherine Af

    2013-07-01

    Genetic counselors have been helping patients navigate hereditary cancer risk for decades. The rapidly changing landscape of genetic testing options means the field is again at a unique time in its history. Fears that arose when BRCA testing first became available are again being voiced in light of next-generation sequencing. The origins of genetic counseling, best practices, and recommendations that have come about since those early days need to be well understood before these new challenges can be met. The role of a proper risk assessment in preventing adverse outcomes is vital as options for testing change. In addition, an understanding of how various countries have incorporated genetic testing and genetic counseling into their healthcare systems can provide lessons in moving forward and capitalizing on the new technology that is again creating a genetics revolution.

  3. Risks, risk assessment and risk competence in toxicology.

    Science.gov (United States)

    Stahlmann, Ralf; Horvath, Aniko

    2015-01-01

    Understanding the toxic effects of xenobiotics requires sound knowledge of physiology and biochemistry. The often described lack of understanding pharmacology/toxicology is therefore primarily caused by the general absence of the necessary fundamental knowledge. Since toxic effects depend on exposure (or dosage) assessing the risks arising from toxic substances also requires quantitative reasoning. Typically public discussions nearly always neglect quantitative aspects and laypersons tend to disregard dose-effect-relationships. One of the main reasons for such disregard is the fact that exposures often occur at extremely low concentrations that can only be perceived intellectually but not by the human senses. However, thresholds in the low exposure range are often scientifically disputed. At the same time, ignorance towards known dangers is wide-spread. Thus, enhancing the risk competence of laypersons will have to be initially restricted to increasing the awareness of existing problems.

  4. Risks, risk assessment and risk competence in toxicology

    Directory of Open Access Journals (Sweden)

    Stahlmann, Ralf

    2015-07-01

    Full Text Available Understanding the toxic effects of xenobiotics requires sound knowledge of physiology and biochemistry. The often described lack of understanding pharmacology/toxicology is therefore primarily caused by the general absence of the necessary fundamental knowledge. Since toxic effects depend on exposure (or dosage assessing the risks arising from toxic substances also requires quantitative reasoning. Typically public discussions nearly always neglect quantitative aspects and laypersons tend to disregard dose-effect-relationships. One of the main reasons for such disregard is the fact that exposures often occur at extremely low concentrations that can only be perceived intellectually but not by the human senses. However, thresholds in the low exposure range are often scientifically disputed. At the same time, ignorance towards known dangers is wide-spread. Thus, enhancing the risk competence of laypersons will have to be initially restricted to increasing the awareness of existing problems.

  5. Making the EU "Risk Window" transparent: The normative foundations of the environmental risk assessment of GMOs

    DEFF Research Database (Denmark)

    Jensen, K.K.; Gamborg, C.; Madsen, K.H.

    2003-01-01

    In Europe, there seems to be widespread, morally based scepticism about the use of GMOs in food production. In response to this scepticism, the revised EU directive 2001/18/EC on the deliberate release into the environment of genetically modified organisms stresses the importance of respecting...... assessment and approval of GMOs outlined in the directive. An environmental risk assessment views the world through a "risk window" that only makes visible that which has been predefined as a relevant risk. The importance of the value judgements that define the risk window consists in limiting...

  6. Analysis of genetics and risk factors of Alzheimer's Disease.

    Science.gov (United States)

    Panpalli Ates, M; Karaman, Y; Guntekin, S; Ergun, M A

    2016-06-14

    Alzheimer's Disease is the leading neurodegenerative cause of dementia. The pathogenesis is not clearly understood yet, is believed to be the complex interaction between genetic and environmental factors. Consequently vascular risk factors and Apolipoprotein E genotyping are increasingly gaining importance. This study aimed at assessing the relationships between Alzheimer's Disease and Apolipoprotein E phenotype and vascular risk factors. Patients diagnosed with "possible Alzheimer's Disease" in the Gazi University, Department of Neurology, were included in the study and age-matched volunteer patients who attended the polyclinic were included as a control group. In this study, the risk factors including low education level, smoking, hyperlipidemia, higher serum total cholesterol levels, and hyperhomocysteinemia were found to be statistically significantly more common in the Alzheimer's Disease group in comparison to the Control Group, while all Apolipoprotein E ε4/ε4 genotypes were found in the Alzheimer's Disease group. The presence of the Apolipoprotein E ε4 allele is believed to increase vascular risk factors as well as to affect Alzheimer's Disease directly. The biological indicators which are used in identifying the patients' genes will be probably used in the treatment plan of the patients in the future.

  7. Assessment of genetic mutations in the XRCC2 coding region by high resolution melting curve analysis and the risk of differentiated thyroid carcinoma in Iran

    Directory of Open Access Journals (Sweden)

    Shima Fayaz

    2012-01-01

    Full Text Available Homologous recombination (HR is the major pathway for repairing double strand breaks (DSBs in eukaryotes and XRCC2 is an essential component of the HR repair machinery. To evaluate the potential role of mutations in gene repair by HR in individuals susceptible to differentiated thyroid carcinoma (DTC we used high resolution melting (HRM analysis, a recently introduced method for detecting mutations, to examine the entire XRCC2 coding region in an Iranian population. HRM analysis was used to screen for mutations in three XRCC2 coding regions in 50 patients and 50 controls. There was no variation in the HRM curves obtained from the analysis of exons 1 and 2 in the case and control groups. In exon 3, an Arg188His polymorphism (rs3218536 was detected as a new melting curve group (OR: 1.46; 95%CI: 0.432-4.969; p = 0.38 compared with the normal melting curve. We also found a new Ser150Arg polymorphism in exon 3 of the control group. These findings suggest that genetic variations in the XRCC2 coding region have no potential effects on susceptibility to DTC. However, further studies with larger populations are required to confirm this conclusion.

  8. Genetic variants in hormone-related genes and risk of breast cancer.

    Directory of Open Access Journals (Sweden)

    Tess Clendenen

    Full Text Available Sex hormones play a key role in the development of breast cancer. Certain polymorphic variants (SNPs and repeat polymorphisms in hormone-related genes are associated with sex hormone levels. However, the relationship observed between these genetic variants and breast cancer risk has been inconsistent. We conducted a case-control study nested within two prospective cohorts to assess the relationship between specific genetic variants in hormone-related genes and breast cancer risk. In total, 1164 cases and 2111 individually-matched controls were included in the study. We did not observe an association between potential functional genetic polymorphisms in the estrogen pathway, SHBG rs6259, ESR1 rs2234693, CYP19 rs10046 and rs4775936, and UGT1A1 rs8175347, or the progesterone pathway, PGR rs1042838, with the risk of breast cancer. Our results suggest that these genetic variants do not have a strong effect on breast cancer risk.

  9. Coverage of endangered species in environmental risk assessments at EFSA

    NARCIS (Netherlands)

    Brock, T.C.M.

    2016-01-01

    The EFSA performs environmental risk assessment (ERA) for single potential stressors such as plant protection products, genetically modified organisms and feed additives, and for invasive alien species that are harmful to plant health. This ERA focusses primarily on the use or spread of such potenti

  10. Coverage of endangered species in environmental risk assessments at EFSA

    NARCIS (Netherlands)

    Brock, T.C.M.

    2016-01-01

    The EFSA performs environmental risk assessment (ERA) for single potential stressors such as plant protection products, genetically modified organisms and feed additives, and for invasive alien species that are harmful to plant health. This ERA focusses primarily on the use or spread of such

  11. Minding the Genes: a Multidisciplinary Approach towards Genetic Assessment of Cardiovascular Disease.

    Science.gov (United States)

    Rhodes, Ashley; Rosman, Lindsey; Cahill, John; Ingles, Jodie; Murray, Brittney; Tichnell, Crystal; James, Cynthia A; Sears, Samuel F

    2017-04-01

    Genetic assessment for inherited cardiovascular disease (CVD) is increasingly available, due in part to rapid innovations in genetic sequencing technologies. While genetic testing is aimed at reducing uncertainty, it also produces awareness of potential medical conditions and can leave patients feeling uncertain about their risk, especially if there are ambiguous results. This uncertainty can produce psychological distress for patients and their families undergoing the assessment process. Additionally, patients may experience psychological distress related to living with inherited CVD. In order to more effectively manage the psychosocial challenges related to genetic assessment for CVD, a multidisciplinary model expanded to include psychologists and other allied health professionals is outlined. A case study is provided to illustrate how psychological distress can manifest in a patient living with inherited CVD, as well as proposed psychological management of this patient. Finally, a guide for genetic counselors is provided to aid in identifying and managing common psychological reactions to genetic assessment for CVD.

  12. Social Engagement with Parents in 11-Month-Old Siblings at High and Low Genetic Risk for Autism Spectrum Disorder

    Science.gov (United States)

    Campbell, Susan B.; Leezenbaum, Nina B.; Mahoney, Amanda S.; Day, Taylor N.; Schmidt, Emily N.

    2015-01-01

    Infant siblings of children with an autism spectrum disorder are at heightened genetic risk to develop autism spectrum disorder. We observed high risk (n?=?35) and low risk (n?=?27) infants at 11?months during free play with a parent. Children were assessed for autism spectrum disorder in toddlerhood. High-risk infants with a later diagnosis…

  13. Genetically Predicted Body Mass Index and Breast Cancer Risk

    DEFF Research Database (Denmark)

    Guo, Yan; Warren Andersen, Shaneda; Shu, Xiao-Ou

    2016-01-01

    BACKGROUND: Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal women. It is unclear whether this association is mediated through shared genetic or enviro......BACKGROUND: Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal women. It is unclear whether this association is mediated through shared genetic...... or environmental factors. METHODS: We applied Mendelian randomization to evaluate the association between BMI and risk of breast cancer occurrence using data from two large breast cancer consortia. We created a weighted BMI genetic score comprising 84 BMI-associated genetic variants to predicted BMI. We evaluated...... genetically predicted BMI in association with breast cancer risk using individual-level data from the Breast Cancer Association Consortium (BCAC) (cases  =  46,325, controls  =  42,482). We further evaluated the association between genetically predicted BMI and breast cancer risk using summary statistics from...

  14. Periodontal risk assessment, diagnosis and treatment planning.

    Science.gov (United States)

    Pihlstrom, B L

    2001-01-01

    The prevention and treatment of the periodontal diseases is based on accurate diagnosis, reduction or elimination of causative agents, risk management and correction of the harmful effects of disease. Prominent and confirmed risk factors or risk predictors for periodontitis in adults include smoking, diabetes, race, P. gingivalis, P. intermedia, low education, infrequent dental attendance and genetic influences. Several other specific periodontal bacteria, herpesviruses, increased age, male, sex, depression, race, traumatic occlusion and female osteoporosis in the presence of heavy dental calculus have been shown to be associated with loss of periodontal support and can be considered to be risk indicators of periodontitis. The presence of furcation involvement, tooth mobility, and a parafunctional habit without the use of a biteguard are associated with a poorer periodontal prognosis following periodontal therapy. An accurate diagnosis can only be made by a thorough evaluation of data that have been systematically collected by: 1) patient interview, 2) medical consultation as indicated, 3) clinical periodontal examination, 4) radiographic examination, and 5) laboratory tests as needed. Clinical signs of periodontal disease such as pocket depth, loss of clinical attachment and bone loss are cumulative measures of past disease. They do not provide the dentist with a current assessment of disease activity. In an attempt to improve the ability to predict future disease progression, several types of diagnostic tests have been studied, including host inflammatory products and mediators, enzymes, tissue breakdown products and subgingival temperature. In general, the usefulness of these tests for predicting future disease activity remains to be established in terms of sensitivity, specificity and predictive value. Although microbiological analysis of subgingival plaque is not necessary to diagnose and treat most patients with periodontitis, it is helpful when treating

  15. Risk assessment and risk management in managed aquifer recharge

    CSIR Research Space (South Africa)

    Page, D

    2012-06-01

    Full Text Available This chapter presents the methodologies used for risk assessment and risk management in MAR in Australia and the European Union, qualitative and quantitative approaches adopted within the RECLAIM Water project and case studies where the outcomes...

  16. Genetic polymorphisms of cytochrome P450cl7alpha (CYP17) and progesterone receptor genes (PROGINS) in the assessment of endometriosis risk.

    Science.gov (United States)

    De Carvalho, Cristina Valleta; Nogueira-De-Souza, Naiara Correa; Costa, Ana Maria Massad; Baracat, Edmund Chada; Girão, Manoel J B C; D'Amora, Paulo; Schor, Eduardo; da Silva, Ismael D C G

    2007-01-01

    We designed the present study in order to evaluate the eventual role of polymorphisms in the genes encoding cytochrome P450c17alpha (CYP17) and the progesterone receptor (PROGINS) as risk factors for endometriosis development. Eligible cases consisted of 121 women with surgically confirmed endometriosis who underwent treatment in a hospital in São Paulo, Brazil during the period from September 2003 to September 2005. The 281 controls were participants with normal gynecological as well as pelvic ultrasound evaluation, who did not have any gynecological conditions during their reproductive lives such as pelvic pain and/or dyspareunia nor infertility history. Genomic DNA was obtained from buccal cells and processed for DNA extraction using the GFX DNA extraction kit (GE Healthcare). The CYP17 (-34T-->C) polymerase chain reaction-restriction fragment length polymorphism assay has been described previously, as has the progesterone receptor polymorphism (PROGINS) detection assay. PROGINS heterozygosis genotype frequencies were shown to be statistically higher in endometriosis cases compared with controls. On the other hand, differences in the CYP17 polymorphism (-34T-->C) frequencies were not even close to significance (p = 0.278) according to our findings.

  17. Genetics and behavioral medicine: Risk factors for cardiovascular disease

    NARCIS (Netherlands)

    Vogler, G.P.; McClearn, G.E.; Snieder, H.; Boomsma, D.I.; Palmer, R.; Knijff, P. de; Slagboom, P.E.

    1997-01-01

    This is the second in a series of three articles addressing the intersection of interests in behavioral genetics and behavioral medicine. In this article, we use risk factors for cardiovascular disease as a prototypical trait for which behavioral genetic approaches provide powerful tools for underst

  18. Risk factors for Alzheimer's disease : a genetic-epidemiologic study

    NARCIS (Netherlands)

    C.M. van Duijn (Cock)

    1992-01-01

    textabstractThe work presented in this thesis has been motivated by the Jack of knowledge of risk factors for Alzheimer's disease. It has been long recognised that genetic factors are implicated, in particular in early-onset Alzheimer's disease.4 But to what extent are genetic factors involved? Are

  19. Genetics and behavioral medicine: Risk factors for cardiovascular disease

    NARCIS (Netherlands)

    Vogler, G.P.; McClearn, G.E.; Snieder, H.; Boomsma, D.I.; Palmer, R.; Knijff, P. de; Slagboom, P.E.

    1997-01-01

    This is the second in a series of three articles addressing the intersection of interests in behavioral genetics and behavioral medicine. In this article, we use risk factors for cardiovascular disease as a prototypical trait for which behavioral genetic approaches provide powerful tools for

  20. Genetics in PSC: what do the "risk genes" teach us?

    Science.gov (United States)

    Folseraas, Trine; Liaskou, Evaggelia; Anderson, Carl A; Karlsen, Tom H

    2015-06-01

    A role of genetics in primary sclerosing cholangitis (PSC) development is now firmly established. A total of 16 risk genes have been reported at highly robust ("genome-wide") significance levels, and ongoing efforts suggest that the list will ultimately be considerably longer. Importantly, this genetic risk pool so far accounts for less than 10 % of an estimated overall PSC susceptibility. The relative importance of genetic versus environmental factors (including gene-gene and gene-environment interactions) in remaining aspects of PSC pathogenesis is unknown, and other study designs than genome-wide association studies are needed to explore these aspects. For some of the loci, e.g. HLA and FUT2, distinct interacting environmental factors may exist, and working from the genetic associations may prove one valid path for determining the specific nature of environmental triggers. So far the biological implications for PSC risk genes are typically merely hypothesized based on previously published literature, and there is therefore a strong need for dedicated translational studies to determine their roles within the specific disease context of PSC. Apparently, most risk loci seem to involve in a subset of biological pathways for which genetic associations exist in a multitude of immune-mediated diseases, accounting for both inflammatory bowel disease as well as prototypical autoimmunity. In the present article, we will survey the current knowledge on PSC genetics with a particular emphasis on the pathophysiological insight potentially gained from genetic risk loci involving in this profound immunogenetic pleiotropy.

  1. From Hazard to Risk - Assessing the Risk

    NARCIS (Netherlands)

    Madsen, C.B.; Houben, G.; Hattersley, S.; Crevel, R.W.R.; Remington, B.C.; Baumert, J.L.

    2013-01-01

    Regulatory thresholds for allergenic foods have not yet been developed. This means that public and industrial risk managers do not have regulatory thresholds to decide if a content or level of contamination is acceptable or not. For a long time, data have been inadequate to define safe thresholds fo

  2. Fuzzy based risk register for construction project risk assessment

    Science.gov (United States)

    Kuchta, Dorota; Ptaszyńska, Ewa

    2017-07-01

    The paper contains fuzzy based risk register used to identify risks which appear in construction projects and to assess their attributes. Risk is considered here as a possible event with negative consequences for the project [4]. We use different risk attributes in the proposed risk register. Values of risk attributes are generated by using fuzzy numbers. Specific risk attributes have different importance for project managers of construction projects. To compare specific risk attributes we use methods of fuzzy numbers ranking. The main strengths of the proposed concept in managing construction projects are also presented in the paper.

  3. Advances in the assessment of suicide risk.

    Science.gov (United States)

    Bryan, Craig J; Rudd, M David

    2006-02-01

    This article reviews and integrates empirically grounded advances in the assessment of suicidality. The practices discussed are consistent with existing standards of care, practice guidelines, and applicable research. The authors differentiate between risk assessment and prediction and then emphasize the important role of time in risk assessment. We present and illustrate a continuum of suicidality for risk assessment and offer practical recommendations for clinical decision making and treatment. (c) 2005 Wiley Periodicals, Inc.

  4. Gender differences in risk assessment

    Directory of Open Access Journals (Sweden)

    Christine R. Harris

    2006-07-01

    Full Text Available Across many real-world domains, men engage in more risky behaviors than do women. To examine some of the beliefs and preferences that underlie this difference, 657 participants assessed their likelihood of engaging in various risky activities relating to four different domains (gambling, health, recreation, and social, and reported their perceptions of (1 probability of negative outcomes, (2 severity of potential negative outcomes, and (3 enjoyment expected from the risky activities. Women's greater perceived likelihood of negative outcomes and lesser expectation of enjoyment partially mediated their lower propensity toward risky choices in gambling, recreation, and health domains. Perceptions of severity of potential outcomes was a partial mediator in the gambling and health domains. The genders did not differ in their propensity towards taking social risks. A fifth domain of activities associated with high potential payoffs and fixed minor costs was also assessed. In contrast to other domains, women reported being more likely to engage in behaviors in this domain. This gender difference was partially mediated by women's more optimistic judgments of the probability of good outcomes and of

  5. Communicating genetic risk information within families: a review.

    Science.gov (United States)

    Wiseman, Mel; Dancyger, Caroline; Michie, Susan

    2010-12-01

    This review of family communication of genetic risk information addresses questions of what the functions and influences on communication are; what, who and how family members are told about genetic risk information; what the impact for counsellee, relative and relationships are; whether there are differences by gender and condition; and what theories and methodologies are used. A systematic search strategy identified peer-reviewed journal articles published 1985-2009 using a mixture of methodologies. A Narrative Synthesis was used to extract and summarise data relevant to the research questions. This review identified 33 articles which found a consistent pattern of findings that communication about genetic risk within families is influenced by individual beliefs about the desirability of communicating genetic risk and by closeness of relationships within the family. None of the studies directly investigated the impact of communication on counsellees or their families, differences according to gender of counsellee or by condition nor alternative methods of communication with relatives. The findings mainly apply to late onset conditions such as Hereditary Breast and Ovarian Cancer. The most frequently used theory was Family Systems Theory and methods were generally qualitative. This review points to multifactorial influences on who is communicated with in families and what they are told about genetic risk information. Further research is required to investigate the impact of genetic risk information on family systems and differences between genders and conditions.

  6. Gastrointestinal stromal tumors, somatic mutations and candidate genetic risk variants.

    Science.gov (United States)

    O'Brien, Katie M; Orlow, Irene; Antonescu, Cristina R; Ballman, Karla; McCall, Linda; DeMatteo, Ronald; Engel, Lawrence S

    2013-01-01

    Gastrointestinal stromal tumors (GISTs) are rare but treatable soft tissue sarcomas. Nearly all GISTs have somatic mutations in either the KIT or PDGFRA gene, but there are no known inherited genetic risk factors. We assessed the relationship between KIT/PDGFRA mutations and select deletions or single nucleotide polymorphisms (SNPs) in 279 participants from a clinical trial of adjuvant imatinib mesylate. Given previous evidence that certain susceptibility loci and carcinogens are associated with characteristic mutations, or "signatures" in other cancers, we hypothesized that the characteristic somatic mutations in the KIT and PDGFRA genes in GIST tumors may similarly be mutational signatures that are causally linked to specific mutagens or susceptibility loci. As previous epidemiologic studies suggest environmental risk factors such as dioxin and radiation exposure may be linked to sarcomas, we chose 208 variants in 39 candidate genes related to DNA repair and dioxin metabolism or response. We calculated adjusted odds ratios (ORs) and 95% confidence intervals (CIs) for the association between each variant and 7 categories of tumor mutation using logistic regression. We also evaluated gene-level effects using the sequence kernel association test (SKAT). Although none of the association p-values were statistically significant after adjustment for multiple comparisons, SNPs in CYP1B1 were strongly associated with KIT exon 11 codon 557-8 deletions (OR = 1.9, 95% CI: 1.3-2.9 for rs2855658 and OR = 1.8, 95% CI: 1.2-2.7 for rs1056836) and wild type GISTs (OR = 2.7, 95% CI: 1.5-4.8 for rs1800440 and OR = 0.5, 95% CI: 0.3-0.9 for rs1056836). CYP1B1 was also associated with these mutations categories in the SKAT analysis (p = 0.002 and p = 0.003, respectively). Other potential risk variants included GSTM1, RAD23B and ERCC2. This preliminary analysis of inherited genetic risk factors for GIST offers some clues about the disease's genetic origins and

  7. Gastrointestinal stromal tumors, somatic mutations and candidate genetic risk variants.

    Directory of Open Access Journals (Sweden)

    Katie M O'Brien

    Full Text Available Gastrointestinal stromal tumors (GISTs are rare but treatable soft tissue sarcomas. Nearly all GISTs have somatic mutations in either the KIT or PDGFRA gene, but there are no known inherited genetic risk factors. We assessed the relationship between KIT/PDGFRA mutations and select deletions or single nucleotide polymorphisms (SNPs in 279 participants from a clinical trial of adjuvant imatinib mesylate. Given previous evidence that certain susceptibility loci and carcinogens are associated with characteristic mutations, or "signatures" in other cancers, we hypothesized that the characteristic somatic mutations in the KIT and PDGFRA genes in GIST tumors may similarly be mutational signatures that are causally linked to specific mutagens or susceptibility loci. As previous epidemiologic studies suggest environmental risk factors such as dioxin and radiation exposure may be linked to sarcomas, we chose 208 variants in 39 candidate genes related to DNA repair and dioxin metabolism or response. We calculated adjusted odds ratios (ORs and 95% confidence intervals (CIs for the association between each variant and 7 categories of tumor mutation using logistic regression. We also evaluated gene-level effects using the sequence kernel association test (SKAT. Although none of the association p-values were statistically significant after adjustment for multiple comparisons, SNPs in CYP1B1 were strongly associated with KIT exon 11 codon 557-8 deletions (OR = 1.9, 95% CI: 1.3-2.9 for rs2855658 and OR = 1.8, 95% CI: 1.2-2.7 for rs1056836 and wild type GISTs (OR = 2.7, 95% CI: 1.5-4.8 for rs1800440 and OR = 0.5, 95% CI: 0.3-0.9 for rs1056836. CYP1B1 was also associated with these mutations categories in the SKAT analysis (p = 0.002 and p = 0.003, respectively. Other potential risk variants included GSTM1, RAD23B and ERCC2. This preliminary analysis of inherited genetic risk factors for GIST offers some clues about the disease's genetic

  8. Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants

    Directory of Open Access Journals (Sweden)

    Sayols-Baixeras S

    2014-01-01

    Full Text Available Sergi Sayols-Baixeras, Carla Lluís-Ganella, Gavin Lucas, Roberto ElosuaCardiovascular Epidemiology and Genetics Research Group, Institut Hospital del Mar d'Investigacions Mèdiques, Barcelona, SpainAbstract: Coronary artery disease (CAD is the leading cause of death and disability worldwide, and its prevalence is expected to increase in the coming years. CAD events are caused by the interplay of genetic and environmental factors, the effects of which are mainly mediated through cardiovascular risk factors. The techniques used to study the genetic basis of these diseases have evolved from linkage studies to candidate gene studies and genome-wide association studies. Linkage studies have been able to identify genetic variants associated with monogenic diseases, whereas genome-wide association studies have been more successful in determining genetic variants associated with complex diseases. Currently, genome-wide association studies have identified approximately 40 loci that explain 6% of the heritability of CAD. The application of this knowledge to clinical practice is challenging, but can be achieved using various strategies, such as genetic variants to identify new therapeutic targets, personal genetic information to improve disease risk prediction, and pharmacogenomics. The main aim of this narrative review is to provide a general overview of our current understanding of the genetics of coronary artery disease and its potential clinical utility.Keywords: coronary artery disease, pathogenesis, genetic risk factors, genetic variants

  9. Clinical characterization and risk profile of individuals seeking genetic counseling for hereditary breast cancer in Brazil.

    Science.gov (United States)

    Palmero, Edenir Inez; Ashton-Prolla, Patricia; da Rocha, José Cláudio C; Vargas, Fernando Regla; Kalakun, Luciane; Blom, Melissa Brauner; Azevedo, Sérgio J; Caleffi, Maira; Giugliani, Roberto; Schüler-Faccini, Lavinia

    2007-06-01

    Hereditary breast cancer (HBC) accounts for 5-10% of breast cancer cases and it significantly increases the lifetime risk of cancer. Our objective was to evaluate the sociodemographic variables, family history of cancer, breast cancer (BC) screening practices and the risk profile of cancer affected or asymptomatic at-risk women that undergo genetic counseling for hereditary breast cancer in public Brazilian cancer genetics services. Estimated lifetime risk of BC was calculated for asymptomatic women using the Gail and Claus models. The majority of women showed a moderate lifetime risk of developing BC, with an average risk of 19.7% and 19.9% by the Gail and Claus models, respectively. The average prior probability of carrying a BRCA1/2 gene mutation was 16.7% and overall only 32% fulfilled criteria for a hereditary breast cancer syndrome as assessed by family history. We conclude that a significant number of individuals at high-risk for HBC syndromes may not have access to the benefits of cancer genetic counseling in these centers. Contributing factors may include insufficient training of healthcare professionals, disinformation of cancer patients; difficult access to genetic testing and/or resistance in seeking such services. The identification and understanding of these barriers is essential to develop specific strategies to effectively achieve cancer risk reduction in this and other countries were clinical cancer genetics is not yet fully established.

  10. Methodology of environmental risk assessment management

    Directory of Open Access Journals (Sweden)

    Saša T. Bakrač

    2012-04-01

    Full Text Available Successful protection of environment is mostly based on high-quality assessment of potential and present risks. Environmental risk management is a complex process which includes: identification, assessment and control of risk, namely taking measures in order to minimize the risk to an acceptable level. Environmental risk management methodology: In addition to these phases in the management of environmental risk, appropriate measures that affect the reduction of risk occurrence should be implemented: - normative and legal regulations (laws and regulations, - appropriate organizational structures in society, and - establishing quality monitoring of environment. The emphasis is placed on the application of assessment methodologies (three-model concept, as the most important aspect of successful management of environmental risk. Risk assessment methodology - European concept: The first concept of ecological risk assessment methodology is based on the so-called European model-concept. In order to better understand this ecological risk assessment methodology, two concepts - hazard and risk - are introduced. The European concept of environmental risk assessment has the following phases in its implementation: identification of hazard (danger, identification of consequences (if there is hazard, estimate of the scale of consequences, estimate of consequence probability and risk assessment (also called risk characterization. The European concept is often used to assess risk in the environment as a model for addressing the distribution of stressors along the source - path - receptor line. Risk assessment methodology - Canadian concept: The second concept of the methodology of environmental risk assessment is based on the so-called Canadian model-concept. The assessment of ecological risk includes risk arising from natural events (floods, extreme weather conditions, etc., technological processes and products, agents (chemical, biological, radiological, etc

  11. Genetic research: who is at risk for alcoholism.

    Science.gov (United States)

    Foroud, Tatiana; Edenberg, Howard J; Crabbe, John C

    2010-01-01

    The National Institute on Alcohol Abuse and Alcoholism (NIAAA) was founded 40 years ago to help elucidate the biological underpinnings of alcohol dependence, including the potential contribution of genetic factors. Twin, adoption, and family studies conclusively demonstrated that genetic factors account for 50 to 60 percent of the variance in risk for developing alcoholism. Case-control studies and linkage analyses have helped identify DNA variants that contribute to increased risk, and the NIAAA-sponsored Collaborative Studies on Genetics of Alcoholism (COGA) has the expressed goal of identifying contributing genes using state-of-the-art genetic technologies. These efforts have ascertained several genes that may contribute to an increased risk of alcoholism, including certain variants encoding alcohol-metabolizing enzymes and neurotransmitter receptors. Genome-wide association studies allowing the analysis of millions of genetic markers located throughout the genome will enable discovery of further candidate genes. In addition to these human studies, genetic animal models of alcohol's effects and alcohol use have greatly advanced our understanding of the genetic basis of alcoholism, resulting in the identification of quantitative trait loci and allowing for targeted manipulation of candidate genes. Novel research approaches-for example, into epigenetic mechanisms of gene regulation-also are under way and undoubtedly will further clarify the genetic basis of alcoholism.

  12. Clinical implications of genomics for cancer risk genetics.

    Science.gov (United States)

    Thomas, David M; James, Paul A; Ballinger, Mandy L

    2015-06-01

    The study of human genetics has provided substantial insight into cancer biology. With an increase in sequencing capacity and a reduction in sequencing costs, genomics will probably transform clinical cancer genetics. A heritable basis for many cancers is accepted, but so far less than half the genetic drivers have been identified. Genomics will increasingly be applied to populations irrespective of family history, which will change the framework of phenotype-directed genetic testing. Panel testing and whole genome sequencing will identify novel, polygenic, and de-novo determinants of cancer risk, often with lower penetrance, which will challenge present binary clinical classification systems and management algorithms. In the future, genotype-stratified public screening and prevention programmes could form part of tailored population risk management. The integration of research with clinical practice will result in so-called discovery cohorts that will help identify clinically significant genetic variation.

  13. Pressure sore risk assessment in palliative care.

    Science.gov (United States)

    Chaplin, J

    2000-01-01

    Pressure sore prevention in palliative care is recognized as being an essential element of holistic care, with the primary goal of promoting quality of life for patient and family. Little is known about the incidence of pressure sore development and the use of pressure sore risk assessment tools in palliative care settings. The development of a risk assessment tool specifically for palliative care patients in a 41-bedded specialist palliative care unit is described. The risk assessment tool was developed as part of a tissue viability practice development initiative. The approach adopted in the validation of the Hunters Hill Marie Curie Centre pressure sore risk assessment tool was the comparative analysis of professional judgment of experienced palliative care nurses with the numerical scores achieved during the assessment of risk on 291 patients (529 risk assessment events). This comparative analysis identified the threshold for different degrees of risk for the patient group involved: low risk, medium risk, high risk and very high risk. Further work is being undertaken to evaluate the inter-rater reliability of the new tool. A number of issues are explored in this paper in relation to pressure sore prevention in palliative care: the role of risk assessment tools, the sometimes conflicting aims of trying to ensure comfort and prevent pressure sore damage, and the uncertainties faced by palliative care nurses when they are trying to maintain quality of life for the dying.

  14. Genetic risk factors for autoimmune diseases

    NARCIS (Netherlands)

    Feltkamp, T.E.W.; Aarden, L.A.; Lucas, C.J.; Verweij, C.L.; Vries, R.R.P. de

    1999-01-01

    In most autoimmune diseases multigenic factors play a significant role in pathogenesis. Progress in identifying these genetic factors, many of which are located outside the major histocompatibility complex, was the subject of a recent meeting. Chemicals/CAS: Interleukin-10, 130068-27-8; Transforming

  15. How does scientific risk assessment of GM crops fit within the wider risk analysis?

    Science.gov (United States)

    Johnson, Katy L; Raybould, Alan F; Hudson, Malcolm D; Poppy, Guy M

    2007-01-01

    The debate concerning genetically modified crops illustrates confusion between the role of scientists and that of wider society in regulatory decision making. We identify two fundamental misunderstandings, which, if rectified, would allow progress with confidence. First, scientific risk assessment needs to test well-defined hypotheses, not simply collect data. Second, risk assessments need to be placed in the wider context of risk analysis to enable the wider 'non-scientific' questions to be considered in regulatory decision making. Such integration and understanding is urgently required because the challenges to regulation will escalate as scientific progress advances.

  16. [Application of three risk assessment models in occupational health risk assessment of dimethylformamide].

    Science.gov (United States)

    Wu, Z J; Xu, B; Jiang, H; Zheng, M; Zhang, M; Zhao, W J; Cheng, J

    2016-08-20

    Objective: To investigate the application of United States Environmental Protection Agency (EPA) inhalation risk assessment model, Singapore semi-quantitative risk assessment model, and occupational hazards risk assessment index method in occupational health risk in enterprises using dimethylformamide (DMF) in a certain area in Jiangsu, China, and to put forward related risk control measures. Methods: The industries involving DMF exposure in Jiangsu province were chosen as the evaluation objects in 2013 and three risk assessment models were used in the evaluation. EPA inhalation risk assessment model: HQ=EC/RfC; Singapore semi-quantitative risk assessment model: Risk= (HR×ER) (1/2); Occupational hazards risk assessment index=2(Health effect level)×2(exposure ratio)×Operation condition level. Results: The results of hazard quotient (HQ>1) from EPA inhalation risk assessment model suggested that all the workshops (dry method, wet method and printing) and work positions (pasting, burdening, unreeling, rolling, assisting) were high risk. The results of Singapore semi-quantitative risk assessment model indicated that the workshop risk level of dry method, wet method and printing were 3.5 (high) , 3.5 (high) and 2.8 (general) , and position risk level of pasting, burdening, unreeling, rolling, assisting were 4 (high) , 4 (high) , 2.8 (general) , 2.8 (general) and 2.8 (general) . The results of occupational hazards risk assessment index method demonstrated that the position risk index of pasting, burdening, unreeling, rolling, assisting were 42 (high) , 33 (high) , 23 (middle) , 21 (middle) and 22 (middle) . The results of Singapore semi-quantitative risk assessment model and occupational hazards risk assessment index method were similar, while EPA inhalation risk assessment model indicated all the workshops and positions were high risk. Conclusion: The occupational hazards risk assessment index method fully considers health effects, exposure, and operating conditions

  17. [Urban ecological risk assessment: a review].

    Science.gov (United States)

    Wang, Mei-E; Chen, Wei-Ping; Peng, Chi

    2014-03-01

    With the development of urbanization and the degradation of urban living environment, urban ecological risks caused by urbanization have attracted more and more attentions. Based on urban ecology principles and ecological risk assessment frameworks, contents of urban ecological risk assessment were reviewed in terms of driven forces, risk resources, risk receptors, endpoints and integrated approaches for risk assessment. It was suggested that types and degrees of urban economical and social activities were the driven forces for urban ecological risks. Ecological functional components at different levels in urban ecosystems as well as the urban system as a whole were the risk receptors. Assessment endpoints involved in changes of urban ecological structures, processes, functional components and the integrity of characteristic and function. Social-ecological models should be the major approaches for urban ecological risk assessment. Trends for urban ecological risk assessment study should focus on setting a definite protection target and criteria corresponding to assessment endpoints, establishing a multiple-parameter assessment system and integrative assessment approaches.

  18. Assessing Human Health Risk from Pesticides

    Science.gov (United States)

    EPA protects human health and the environment by evaluating the risk associated with pesticides before allowing them to be used in the United States. Learn about the tools and processes used in risk assessment for pesticides.

  19. Colon Cancer Risk Assessment - Gauss Program

    Science.gov (United States)

    An executable file (in GAUSS) that projects absolute colon cancer risk (with confidence intervals) according to NCI’s Colorectal Cancer Risk Assessment Tool (CCRAT) algorithm. GAUSS is not needed to run the program.

  20. Risk assessment theory, methods, and applications

    CERN Document Server

    Rausand, Marvin

    2011-01-01

    With its balanced coverage of theory and applications along with standards and regulations, Risk Assessment: Theory, Methods, and Applications serves as a comprehensive introduction to the topic. The book serves as a practical guide to current risk analysis and risk assessment, emphasizing the possibility of sudden, major accidents across various areas of practice from machinery and manufacturing processes to nuclear power plants and transportation systems. The author applies a uniform framework to the discussion of each method, setting forth clear objectives and descriptions, while also shedding light on applications, essential resources, and advantages and disadvantages. Following an introduction that provides an overview of risk assessment, the book is organized into two sections that outline key theory, methods, and applications. * Introduction to Risk Assessment defines key concepts and details the steps of a thorough risk assessment along with the necessary quantitative risk measures. Chapters outline...

  1. A family genetic risk communication framework: guiding tool development in genetics health services.

    Science.gov (United States)

    Wiens, Miriam E; Wilson, Brenda J; Honeywell, Christina; Etchegary, Holly

    2013-04-01

    Family communication of genetic risk information is a complex process. Currently, there are no evidence-based interventions to help genetics professionals facilitate the process of disclosure within families. This study was designed to create a framework to assist in the development of tools to support patients in communicating genetic risk information to family members. A systematic review identified the factors relevant in communicating genetic risk information in families. A guiding theory for the proposed framework was selected and populated with the factors identified from the review. The review identified 112 factors of relevance. The theory of planned behaviour was selected to guide framework development, organising the framework in terms of the patient's attitudes about disclosure, perceived pressure to disclose and perceived control over disclosure. Attitudes about disclosure are influenced by a desire to protect oneself or family members, and the patient's perceptions of relevance of the information for family members, responsibility to disclose, family members' rights to information and the usefulness of communicating. Perceived pressure to disclose information is shaped by genetic professionals, family members and society. Perceived control over disclosure is affected by family relationships/dynamics, personal communication skills, the ability of the patient and family to understand the information and coping skills of the patient and family member. The family genetic risk communication framework presents a concise synthesis of the evidence on family communication of genetic information; it may be useful in creating and evaluating tools to help genetic counsellors and patients with communication issues.

  2. Genetic risk factors of cisplatin induced ototoxicity in adult patients.

    Science.gov (United States)

    Talach, T; Rottenberg, J; Gal, B; Kostrica, R; Jurajda, M; Kocak, I; Lakomy, R; Vogazianos, E

    2016-01-01

    Ototoxicity is an important adverse effect of using Cisplatin (cis-diamminedichloroplatinum) (CDDP) as a form of chemotherapy. The clinical picture of CDDP induced ototoxicity includes perceptive hearing impairment (reversible or permanent) and tinnitus. Ototoxicity manifests with considerable variability between patients. The objective of this prospective study was to investigate a possible genetic background to this variability. We assessed ototoxicity induced by therapeutic doses of CDDP in adult patients with germinative testicular tumors, or other tumors treated with an identical CDDP dosage scheme. Audiological examination before, during and after the treatment has shown deterioration in hearing; first in the high-frequencies and with increased CDDP cumulative doses, impairment in other frequencies as well. Occurrence of tinnitus was not dependent on the administered dose of CDDP, or the other risk factors examined in this study. The association of CDDP induced ototoxicity with genetic polymorphisms in candidate genes was examined. Our study has demonstrated an association of early onset of CDDP induced ototoxicity with the presence of two copies of GSTT1 gene (p=0,009) and with T allele of rs9332377 polymorphism in COMT gene (p=0,001).

  3. Risk factors for amyotrophic lateral sclerosis : Lifestyle, environment and genetics

    NARCIS (Netherlands)

    Seelen, M.

    2015-01-01

    In this thesis the results of studies aiming to identify risk factors for amyotrophic lateral sclerosis (ALS) are described. A population-based case-control design was used to perform (1) epidemiological risk factor studies, examining lifestyle factors and environmental exposures, and (2) genetic st

  4. Risk factors for amyotrophic lateral sclerosis : Lifestyle, environment and genetics

    NARCIS (Netherlands)

    Seelen, M.

    2015-01-01

    In this thesis the results of studies aiming to identify risk factors for amyotrophic lateral sclerosis (ALS) are described. A population-based case-control design was used to perform (1) epidemiological risk factor studies, examining lifestyle factors and environmental exposures, and (2) genetic st

  5. Approaches to risk assessment in food allergy

    DEFF Research Database (Denmark)

    Madsen, Charlotte Bernhard; Hattersley, S.; Buck, J.;

    2009-01-01

    the area forward. Three possible approaches to safety assessment and risk assessment for allergenic foods were presented and discussed: safety assessment using NOAEL/LOAEL and uncertainty factors, safety assessment using Benchmark Dose and Margin of Exposure (MoE), and risk assessment using probabilistic...... models. The workshop concluded that all the three approaches to safety and risk assessment of allergenic foods should continue to be considered. A particular strength of the MoE and probabilistic approaches is that they do not rely on low-dose extrapolations with its inherent issues. Probabilistic...

  6. RISK ASSESSMENT PROCEDURE FOR CIVIL AIRPORT

    Directory of Open Access Journals (Sweden)

    Natalia Distefano

    2014-03-01

    Full Text Available A practical problem in air transport is how to manage risk and safety. In recent years have been developed special technical and managerial skills to the systematic, forward looking identification and control of hazards throughout the life cycle of a project, program, or activity. Safety Management System (SMS involves identifying, evaluating, and addressing of hazards or risk. Its sole purpose is to prevent accidents. Safety risk assessment is defined as the systematic identification and evaluation of the risk posed by the complete spectrum of possible accident scenarios. Risk assessment is a tool that supports decision making and as such supports risk management. Risk management comprises the safety optimization of the system, the verification process and risk acceptance, which support airport operations. This paper proposed a quantitative methodology for the risk assessment for a civil airport, which is based on historical data of aircraft accidents, contained in the Aviation Safety Network database, from 1 January 1980 to 31 December 2010.

  7. Risk communication in environmental assessment

    Energy Technology Data Exchange (ETDEWEB)

    Rahm-Crites, L. [Lawrence Livermore National Lab., Germantown, MD (United States). Washington Operations Office

    1996-08-26

    Since the enactment of NEPA and other environmental legislation, the concept of `risk communication` has expanded from simply providing citizens with scientific information about risk to exploring ways of making risk information genuinely meaningful to the public and facilitating public involvement in the very processes whereby risk is analyzed and managed. Contemporary risk communication efforts attempt to find more effective ways of conveying increasingly complex risk information and to develop more democratic and proactive approaches to community involvement, in particular to ensuring the participation of diverse populations in risk decisions. Although considerable progress has been made in a relatively short time, risk communication researchers and practitioners currently face a number of challenges in a time of high expectations, low trust, and low budgets.

  8. Genetically modified crops: success, safety assessment, and public concern.

    Science.gov (United States)

    Singh, Om V; Ghai, Shivani; Paul, Debarati; Jain, Rakesh K

    2006-08-01

    With the emergence of transgenic technologies, new ways to improve the agronomic performance of crops for food, feed, and processing applications have been devised. In addition, ability to express foreign genes using transgenic technologies has opened up options for producing large quantities of commercially important industrial or pharmaceutical products in plants. Despite this high adoption rate and future promises, there is a multitude of concerns about the impact of genetically modified (GM) crops on the environment. Potential contamination of the environment and food chains has prompted detailed consideration of how such crops and the molecules that they produce can be effectively isolated and contained. One of the reasonable steps after creating a transgenic plant is to evaluate its potential benefits and risks to the environment and these should be compared to those generated by traditional agricultural practices. The precautionary approach in risk management of GM plants may make it necessary to monitor significant wild and weed populations that might be affected by transgene escape. Effective risk assessment and monitoring mechanisms are the basic prerequisites of any legal framework to adequately address the risks and watch out for new risks. Several agencies in different countries monitor the release of GM organisms or frame guidelines for the appropriate application of recombinant organisms in agro-industries so as to assure the safe use of recombinant organisms and to achieve sound overall development. We feel that it is important to establish an internationally harmonized framework for the safe handling of recombinant DNA organisms within a few years.

  9. COX2 genetic variation, NSAIDs, and advanced prostate cancer risk

    OpenAIRE

    Cheng, I.; Liu, X.; Plummer, S J; Krumroy, L M; Casey, G; Witte, J S

    2007-01-01

    Collective evidence suggests that cyclooxygenase 2 (COX2) plays a role in prostate cancer risk. Cyclooxygenase 2 is the major enzyme that converts arachidonic acid to prostaglandins, which are potent mediators of inflammation. Nonsteroidal anti-inflammatory drugs (NSAIDs) inhibit the enzymatic activity of COX2 and long-term use of NSAIDs appears to modestly lower the risk of prostate cancer. We investigated whether common genetic variation in COX2 influences the risk of advanced prostate canc...

  10. Dietary restraint moderates genetic risk for binge eating.

    Science.gov (United States)

    Racine, Sarah E; Burt, S Alexandra; Iacono, William G; McGue, Matt; Klump, Kelly L

    2011-02-01

    Dietary restraint is a prospective risk factor for the development of binge eating and bulimia nervosa. Although many women engage in dietary restraint, relatively few develop binge eating. Dietary restraint may increase susceptibility for binge eating only in individuals who are at genetic risk. Specifically, dietary restraint may be a behavioral exposure factor that activates genetic predispositions for binge eating. We investigated this possibility in 1,678 young adolescent and adult same-sex female twins from the Minnesota Twin Family Study and the Michigan State University Twin Registry. Twin moderation models were used to examine whether levels of dietary restraint moderate genetic and environmental influences on binge eating. Results indicated that genetic and nonshared environmental factors for binge eating increased at higher levels of dietary restraint. These effects were present after controlling for age, body mass index, and genetic and environmental overlap among dietary restraint and binge eating. Results suggest that dietary restraint may be most important for individuals at genetic risk for binge eating and that the combination of these factors could enhance individual differences in risk for binge eating.

  11. Cost sharing and hereditary cancer risk: predictors of willingness-to-pay for genetic testing.

    Science.gov (United States)

    Matro, Jennifer M; Ruth, Karen J; Wong, Yu-Ning; McCully, Katen C; Rybak, Christina M; Meropol, Neal J; Hall, Michael J

    2014-12-01

    Increasing use of predictive genetic testing to gauge hereditary cancer risk has been paralleled by rising cost-sharing practices. Little is known about how demographic and psychosocial factors may influence individuals' willingness-to-pay for genetic testing. The Gastrointestinal Tumor Risk Assessment Program Registry includes individuals presenting for genetic risk assessment based on personal/family cancer history. Participants complete a baseline survey assessing cancer history and psychosocial items. Willingness-to-pay items include intention for: genetic testing only if paid by insurance; testing with self-pay; and amount willing-to-pay ($25-$2,000). Multivariable models examined predictors of willingness-to-pay out-of-pocket (versus only if paid by insurance) and willingness-to-pay a smaller versus larger sum (≤$200 vs. ≥$500). All statistical tests are two-sided (α = 0.05). Of 385 evaluable participants, a minority (42%) had a personal cancer history, while 56% had ≥1 first-degree relative with colorectal cancer. Overall, 21.3% were willing to have testing only if paid by insurance, and 78.7% were willing-to-pay. Predictors of willingness-to-pay were: 1) concern for positive result; 2) confidence to control cancer risk; 3) fewer perceived barriers to colorectal cancer screening; 4) benefit of testing to guide screening (all p willingness-to-pay for genetic services is increasingly important as testing is integrated into routine cancer care.

  12. Predicting stroke through genetic risk functions: the CHARGE Risk Score Project.

    Science.gov (United States)

    Ibrahim-Verbaas, Carla A; Fornage, Myriam; Bis, Joshua C; Choi, Seung Hoan; Psaty, Bruce M; Meigs, James B; Rao, Madhu; Nalls, Mike; Fontes, Joao D; O'Donnell, Christopher J; Kathiresan, Sekar; Ehret, Georg B; Fox, Caroline S; Malik, Rainer; Dichgans, Martin; Schmidt, Helena; Lahti, Jari; Heckbert, Susan R; Lumley, Thomas; Rice, Kenneth; Rotter, Jerome I; Taylor, Kent D; Folsom, Aaron R; Boerwinkle, Eric; Rosamond, Wayne D; Shahar, Eyal; Gottesman, Rebecca F; Koudstaal, Peter J; Amin, Najaf; Wieberdink, Renske G; Dehghan, Abbas; Hofman, Albert; Uitterlinden, André G; Destefano, Anita L; Debette, Stephanie; Xue, Luting; Beiser, Alexa; Wolf, Philip A; Decarli, Charles; Ikram, M Arfan; Seshadri, Sudha; Mosley, Thomas H; Longstreth, W T; van Duijn, Cornelia M; Launer, Lenore J

    2014-02-01

    Beyond the Framingham Stroke Risk Score, prediction of future stroke may improve with a genetic risk score (GRS) based on single-nucleotide polymorphisms associated with stroke and its risk factors. The study includes 4 population-based cohorts with 2047 first incident strokes from 22,720 initially stroke-free European origin participants aged ≥55 years, who were followed for up to 20 years. GRSs were constructed with 324 single-nucleotide polymorphisms implicated in stroke and 9 risk factors. The association of the GRS to first incident stroke was tested using Cox regression; the GRS predictive properties were assessed with area under the curve statistics comparing the GRS with age and sex, Framingham Stroke Risk Score models, and reclassification statistics. These analyses were performed per cohort and in a meta-analysis of pooled data. Replication was sought in a case-control study of ischemic stroke. In the meta-analysis, adding the GRS to the Framingham Stroke Risk Score, age and sex model resulted in a significant improvement in discrimination (all stroke: Δjoint area under the curve=0.016, P=2.3×10(-6); ischemic stroke: Δjoint area under the curve=0.021, P=3.7×10(-7)), although the overall area under the curve remained low. In all the studies, there was a highly significantly improved net reclassification index (Pstroke and its risk factors result only in a small improvement in prediction of future stroke compared with the classical epidemiological risk factors for stroke.

  13. Quantitative Microbial Risk Assessment Tutorial - Primer

    Science.gov (United States)

    This document provides a Quantitative Microbial Risk Assessment (QMRA) primer that organizes QMRA tutorials. The tutorials describe functionality of a QMRA infrastructure, guide the user through software use and assessment options, provide step-by-step instructions for implementi...

  14. Revised Human Health Risk Assessment on Chlorpyrifos

    Science.gov (United States)

    We have revised our human health risk assessment and drinking water exposure assessment for chlorpyrifos that supported our October 2015 proposal to revoke all food residue tolerances for chlorpyrifos. Learn about the revised analysis.

  15. Risk assessment method of major unsafe hydroelectric project

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Based on the characteristics of major unsafe hydroelectric projects and the data from field detection, in situ monitoring, and regular safety inspection, the funda-mental principles of operation risk assessment are proposed in this paper. Mean-while, a three layer hierarchical system is constructed, and an improved analytical hierarchical process combining genetic algorithm and analytical hierarchical process is established, with corresponding program. The operation risk of some unsafe dam was assessed with the principles, method and program presented in this paper and the major factors which would affect the operation of the dam were pointed out.

  16. Risk assessment method of major unsafe hydroelectric project

    Institute of Scientific and Technical Information of China (English)

    WU ZhongRu; SU HuaiZhi; GUO HaiQing

    2008-01-01

    Based on the characteristics of major unsafe hydroelectric projects and the data from field detection, in situ monitoring, and regular safety inspection, the funda- menial principles of operation risk assessment are proposed in this paper. Mean- while, a three layer hierarchical system is constructed, and an improved analytical hierarchical process combining genetic algorithm and analytical hierarchical process is established, with corresponding program. The operation risk of some unsafe dam was assessed with the principles, method and program presented in this paper and the major factors which would affect the operation of the dam were pointed out.

  17. Life Cycle Assessment and Risk Assessment

    DEFF Research Database (Denmark)

    Olsen, Stig Irving

    Life Cycle Assessment (LCA) is a tool for environmental assessment of product and systems – over the whole life cycle from acquisition of raw materials to the end-of-life of the product – and encompassing all environmental impacts of emissions and resource usage, e.g. global warming, acidification...... the emissions, how should they be defined and classified and what should be measured? LCA have many of these issues in common with RA. There is a need to understand which properties of nanomaterials are crucial for the assessment of their potential transformation and fate as well as their ability to cause...... adverse effects on target organisms or systems. If we want to be able to assess toxic impacts both in LCA and in RA these issues need to be addressed by the RA community and the LCA community must follow closely the progress made....

  18. [Environmental and genetic risk factors for endometrial carcinoma].

    Science.gov (United States)

    Sénéchal, Claire; Cottereau, Edouard; de Pauw, Antoine; Elan, Camille; Dagousset, Isabelle; Fourchotte, Virginie; Gauthier-Villars, Marion; Lae, Marick; Stoppa-Lyonnet, Dominique; Buecher, Bruno

    2015-03-01

    In France, endometrial cancer is at the first rank of gynecological cancers for cancer incidence, before ovarian and cervical cancers. In fact, the number of incident cases has been estimated to 7275 for the year 2012; the number of death due to endometrial cancer to 2025. This cancer is hormone-dependent and endogenous (reproductive factors) or exogenous (oral combined contraceptives, hormone replacement therapy) causes of exposition to estrogens are the major environmental risk factors for both types of endometrial cancers: type I or well-differentiated endometrioid adenocarcinomas; and type II including all other histological types: papillary serous adenocarcinomas, clear cell adenocarcinomas and carcinosarcomas, also known as malignant mixed Mullerian tumor, MMMT. Obesity, diabetes mellitus and adjuvant treatment of breast cancer with tamoxifen are also associated with an increased risk of endometrial cancer. Genetic factors may also be implicated in the pathogenesis of endometrial cancer either as "minor genetic factors" (susceptibility factors), which remain largely unknown and are responsible for the increased observed risk in relatives of women affected with endometrial cancer; or as major genetic factors responsible for hereditary forms and namely for Lynch syndrome whose genetic transmission is of autosomic dominant type. The appropriate recognition of Lynch syndrome is of critical importance because affected patients and their relatives should benefit from specific care. The aims of this review is to describe major environmental and genetic risk factors for endometrial cancer with specific attention to most recent advances in this field and to describe recommendations for care of at-risk women.

  19. Assessing reservoir operations risk under climate change

    Science.gov (United States)

    Brekke, L.D.; Maurer, E.P.; Anderson, J.D.; Dettinger, M.D.; Townsley, E.S.; Harrison, A.; Pruitt, T.

    2009-01-01

    Risk-based planning offers a robust way to identify strategies that permit adaptive water resources management under climate change. This paper presents a flexible methodology for conducting climate change risk assessments involving reservoir operations. Decision makers can apply this methodology to their systems by selecting future periods and risk metrics relevant to their planning questions and by collectively evaluating system impacts relative to an ensemble of climate projection scenarios (weighted or not). This paper shows multiple applications of this methodology in a case study involving California's Central Valley Project and State Water Project systems. Multiple applications were conducted to show how choices made in conducting the risk assessment, choices known as analytical design decisions, can affect assessed risk. Specifically, risk was reanalyzed for every choice combination of two design decisions: (1) whether to assume climate change will influence flood-control constraints on water supply operations (and how), and (2) whether to weight climate change scenarios (and how). Results show that assessed risk would motivate different planning pathways depending on decision-maker attitudes toward risk (e.g., risk neutral versus risk averse). Results also show that assessed risk at a given risk attitude is sensitive to the analytical design choices listed above, with the choice of whether to adjust flood-control rules under climate change having considerably more influence than the choice on whether to weight climate scenarios. Copyright 2009 by the American Geophysical Union.

  20. Risk assessment methodology in oil shale mining

    Energy Technology Data Exchange (ETDEWEB)

    Sabanov, S. [Tallinn Univ. of Technology, Tallinn (Estonia)

    2009-07-01

    The safety challenges posed by different mining processes were discussed in terms of geotechnical risk factors. Various mining processes can result in work hazards, a production shut-down, economic damage to the enterprise, and environmental impacts. In Estonia, risk assessment methods are utilized in different branches of industry. However, the literature on solving mining problems is limited. Various methods are applicable for solving complicated mining problems. This paper elaborated on a modified risk assessment methodology for oil shale mining in Estonia. The paper specifically discussed problems associated with oil shale mining as well as risk assessment methods such as risk analysis and risk evaluation. Topics that were introduced included risk analysis; risk identification; risk estimation; risk evaluation; risk mitigation; and risk acceptance. The modified risk assessment methodology was successfully applied to the extraction of mineral resources, stability of a mining block, and their influence on the environment. It was concluded that the methodology provides opportunity to find improved methods for new mine planning in accordance with environmental performances and the economical profit for companies. 8 refs., 2 figs.

  1. Genetic risk factors for Parkinson’s disease in Ukraine

    Directory of Open Access Journals (Sweden)

    A. K. Koliada

    2015-03-01

    Full Text Available The paper focuses on the genetic risk factors for Parkinson’s disease (PD such as polymorphisms in genes CYP1A1, GSTM1 and APOE. A total number of 516 people were examined. 300 persons were in the control group (mean age 67,0 ± 0,4 years; 200 males and 100 females and 216 persons were patients with PD (mean age 65,0 ± 0,7 years, 116 males and 100 females. Whole blood samples collected from each person were genotyped using PCR-RFLP. Amplification and restriction results were assessed by conducting vertical agarose gel electrophoresis. The study analyzed marker с.2452C>A in the CYP1A1 gene. In the control group, allele C frequency was 0.79, and allele A frequency – 0.21. Genotype frequencies were: CC – 0.61, AC – 0.36, AA – 0.03. In the group of patients alleles C and A frequencies were 0.64 and 0.36 correspondingly. Genotype frequencies were: CC – 0.35, AC – 0.58, AA – 0.07. There was a significant difference between both groups in allele A frequency. It is considered that 0/0 genotype for the GSTM1 gene is a risk factor for PD. In the controls, +/+ and 0/0 genotypes frequencies were 0.67 and 0.33 correspondingly. In the group of patients +/+ genotype frequency was 0.55 and 0/0 genotype frequency – 0.45. The difference was statistically significant. In the control group genotype frequencies for the АРОЕ gene were 0.715 (Е3/Е3, 0.077 (Е3/Е4, 0.009 (Е4/Е4, 0.167 (Е2/Е3, 0.031 (Е2/Е4 and 0.000 (Е2/Е2. In the group of patients with PD they were 0.634 (Е3/Е3, 0.148 (Е3/Е4, 0.032 (Е4/Е4, 0.157 (Е2/Е3, 0.023 (Е2/Е4 and 0.000 (Е2/Е2. Е3/Е4 genotype frequency was significantly higher in the group of patients with PD than in the control group. Pathogenic allele с.2452C>A of the CYP1A1 gene is associated with increased risk of PD (OR = 1.72. 0/0 genotype carriers have higher risk to develop PD (OR = 1.72. Allele έ4 of the АРОЕ gene may be associated with increased risk of PD. Risk of the disease is

  2. Social skill and social cognition in adolescents at genetic risk for psychosis

    NARCIS (Netherlands)

    Gibson, C.M.; Penn, D.L.; Prinstein, M.J.; Perkins, D.O.; Belger, A.

    2010-01-01

    Adolescents at genetic high risk (GHR) for schizophrenia have shown social skill impairments and there is some evidence to suggest they have Theory of Mind (ToM) deficits; however no research has used a standardized, performance-based behavioral measure to assess social functioning in this

  3. Risk perceptions, worry, and attitudes about genetic testing for breast cancer susceptibility.

    Science.gov (United States)

    Cameron, Linda D; Reeve, Jeanne

    2006-01-01

    This study assessed the unique associations of risk perceptions and worry with attitudes about genetic testing for breast cancer susceptibility. Women (general practitioner clinic attenders, university students, and first-degree relatives of breast cancer survivors; N = 303) read information about genetic testing and completed measures assessing perceived cancer risk, cancer worry, and genetic testing attitudes and beliefs. Worry was associated with greater interest in genetic testing, stronger beliefs that testing has detrimental emotional consequences, and positive beliefs about benefits of testing and risk-reducing surgeries. Perceived risk was unrelated to interest and associated with more skeptical beliefs about emotional consequences and benefits of testing and risk-reducing surgeries. At low worry levels, testing interest increased with more positive beliefs about testing benefits; at high worry levels, interest was high regardless of benefits beliefs. The findings support Leventhal's Common-Sense Model of self-regulation delineating interactive influences of risk-related cognitions and emotions on information processing and behavior.

  4. Risk assessment of plant protection products

    Directory of Open Access Journals (Sweden)

    Hardy T

    2012-10-01

    Full Text Available

    EFSA’s Panel on Plant Protection Products and their Residues (PPR Panel provides independent scientific advice in the field of risk assessment of plant protection products (PPPs, pesticides. Since its establishment in 2003 under Regulation (EC No 178/2002, it has delivered a series of scientific outputs in support of evaluation of pesticide active substances, establishing scientific principles and guidance documents in the field of pesticide risk assessment and in support of decision making of European Union (EU law makers. Next to a series of scientific opinions evaluating specific adverse effects of PPPs for human health (like for instance carcinogenicity the Panel also delivered scientific opinions on general principles in the field of human health risk assessment (like reference value setting and is, in particular over the last years, very much engaged in development of methodologies to meet new challenges in regulatory risk assessments such as assessment of toxicity of pesticide metabolites and potential cumulative effects of pesticides to human health. Fate, behaviour and transformation of pesticides after their application and consequent release to the environment are a major aspect of pesticide risk assessment. The PPR Panel has achieved major accomplishments by delivering guidance and scientific opinions on degradation in soil, exposure of soil organisms and assessment of environmental risks by use of pesticides in greenhouses or grown under cover. A series of scientific opinions have been delivered also in the field of environmental risk assessment of pesticides. Scientific output covered specific issues arising in the peer review of specific active substances, revision of data requirements, development of risk assessment methodologies and the development of guidance documents. A major milestone of the PPR Panel was the development of the methodological framework for deriving specific protection goals for environmental risk

  5. Production Risk Assessing Methodology (PRAM).

    Science.gov (United States)

    1982-05-01

    the price up five-fold which translates to $30.M. On the optimistic side,this same commodity market could bring the price down to one half of the price...57 PWMIW- A recognitinn that past product ion probl ems represent f ut ri , producto ; risk areas suggested an empirically developed risk structure

  6. Aquatic Macrophyte Risk Assessment for Pesticides

    NARCIS (Netherlands)

    Maltby, L.; Arnold, D.; Arts, G.H.P.; Davies, J.; Heimbach, F.; Pickl, C.; Poulsen, V.

    2009-01-01

    Given the essential role that primary producers play in aquatic ecosystems, it is imperative that the potential risk of pesticides to the structure and functioning of aquatic plants is adequately assessed. This book discusses the assessment of the risk of pesticides with herbicidal activity to

  7. GHGT-11 - Integrated Carbon Risk Assessment (ICARAS)

    NARCIS (Netherlands)

    Wollenweber, J.; Busby, D.; Wessel-Berg, D.; Nepveu, M.; Bossie Codreanu, D.; Grimstad, A-A.; Sijacic, D.; Maurand, N.; Lothe, A.; Wahl, F.; Polak, S.; Boot, H.; Grøver, A.; Wildenborg, T.

    2013-01-01

    In this paper an integrated workflow is described for risk assessment within CCS. IFPEN, SINTEF and TNO joined forces to define a comprehensive and transparent risk assessment methodology. The tools developed in these institutes are thereby integrated. The workflow can be applied to proposed carbon

  8. Aquatic Macrophyte Risk Assessment for Pesticides

    NARCIS (Netherlands)

    Maltby, L.; Arnold, D.; Arts, G.H.P.; Davies, J.; Heimbach, F.; Pickl, C.; Poulsen, V.

    2009-01-01

    Given the essential role that primary producers play in aquatic ecosystems, it is imperative that the potential risk of pesticides to the structure and functioning of aquatic plants is adequately assessed. This book discusses the assessment of the risk of pesticides with herbicidal activity to aquat

  9. Establishing a family risk assessment clinic for breast cancer.

    LENUS (Irish Health Repository)

    Mulsow, Jurgen

    2012-02-01

    Breast cancer is the most common cancer affecting European women and the leading cause of cancer-related death. A total of 15-20% of women who develop breast cancer have a family history and 5-10% a true genetic predisposition. The identification and screening of women at increased risk may allow early detection of breast cancer and improve prognosis. We established a family risk assessment clinic in May 2005 to assess and counsel women with a family history of breast cancer, to initiate surveillance, and to offer risk-reducing strategies for selected high-risk patients. Patients at medium or high risk of developing breast cancer according to NICE guidelines were accepted. Family history was determined by structured questionnaire and interview. Lifetime risk of developing breast cancer was calculated using Claus and Tyrer-Cuzick scoring. Risk of carrying a breast cancer-related gene mutation was calculated using the Manchester system. One thousand two hundred and forty-three patients have been referred. Ninety-two percent were at medium or high risk of developing breast cancer. Formal assessment of risk has been performed in 368 patients, 73% have a high lifetime risk of developing breast cancer, and 72% a Manchester score >or=16. BRCA1\\/2 mutations have been identified in 14 patients and breast cancer diagnosed in two. Our initial experience of family risk assessment has shown there to be a significant demand for this service. Identification of patients at increased risk of developing breast cancer allows us to provide individuals with accurate risk profiles, and enables patients to make informed choices regarding their follow-up and management.

  10. Fuzzy sets applications for cancer risk assessment.

    Science.gov (United States)

    Molchanov, P A; Dudatiev, A V; Podobna, Y Y; Molchanova, O P

    2002-09-01

    The method of cancer risk assessment on the basis of the Fuzzy Set Theory is presented. The method is based on a multifactor risk assessment of cancer diseases. The individual risk of cancer disease is evaluated as the probability of disease multiplied by the value of an individual dose. An acupuncture method of cancer risk assessments was developed. The method is based on the analysis of changes of an electromagnetic field (biofield) of a person. The method allows to determine both cancer probability and probable location of the process.

  11. Risk Assessment for an Unmanned Merchant Ship

    Directory of Open Access Journals (Sweden)

    Ø.J. Rødseth

    2015-09-01

    Full Text Available The MUNIN project is doing a feasibility study on an unmanned bulk carrier on an intercontinental voyage. To develop the technical and operational concepts, MUNIN has used a risk-based design method, based on the Formal Safety Analysis method which is also recommended by the International Mari-time Organization. Scenario analysis has been used to identify risks and to simplify operational scope. Systematic hazard identification has been used to find critical safety and security risks and how to address these. Technology and operational concept testing is using a hypothesis-based test method, where the hypotheses have been created as a result of the risk assessment. Finally, the cost-benefit assessment will also use results from the risk assessment. This paper describes the risk assessment method, some of the most important results and also describes how the results have been or will be used in the different parts of the project.

  12. Molecular mechanisms underlying noncoding risk variations in psychiatric genetic studies.

    Science.gov (United States)

    Xiao, X; Chang, H; Li, M

    2017-01-03

    Recent large-scale genetic approaches such as genome-wide association studies have allowed the identification of common genetic variations that contribute to risk architectures of psychiatric disorders. However, most of these susceptibility variants are located in noncoding genomic regions that usually span multiple genes. As a result, pinpointing the precise variant(s) and biological mechanisms accounting for the risk remains challenging. By reviewing recent progresses in genetics, functional genomics and neurobiology of psychiatric disorders, as well as gene expression analyses of brain tissues, here we propose a roadmap to characterize the roles of noncoding risk loci in the pathogenesis of psychiatric illnesses (that is, identifying the underlying molecular mechanisms explaining the genetic risk conferred by those genomic loci, and recognizing putative functional causative variants). This roadmap involves integration of transcriptomic data, epidemiological and bioinformatic methods, as well as in vitro and in vivo experimental approaches. These tools will promote the translation of genetic discoveries to physiological mechanisms, and ultimately guide the development of preventive, therapeutic and prognostic measures for psychiatric disorders.Molecular Psychiatry advance online publication, 3 January 2017; doi:10.1038/mp.2016.241.

  13. Predicting stroke through genetic risk functions the CHARGE risk score project

    NARCIS (Netherlands)

    C.A. Ibrahim-Verbaas (Carla); M. Fornage (Myriam); J.C. Bis (Joshua); S.-H. Choi (Seung-Hoan); B.M. Psaty (Bruce); J.B. Meigs (James); M. Rao (Madhu); M.A. Nalls (Michael); M. Fontes (Michel); C.J. O'Donnell (Christopher); S. Kathiresan (Sekar); G.B. Ehret (Georg); C.S. Fox (Caroline); R. Malik (Rainer); C. Kubisch (Christian); R. Schmidt (Reinhold); J. Lahti (Jari); S.R. Heckbert (Susan); T. Lumley (Thomas); K.M. Rice (Kenneth); J.I. Rotter (Jerome); K.D. Taylor (Kent); A.R. Folsom (Aaron); E.A. Boerwinkle (Eric); W.D. Rosamond (Wayne); E. Shahar (Eyal); R.F. Gottesman (Rebecca); P.J. Koudstaal (Peter Jan); N. Amin (Najaf); R.G. Wieberdink (Renske); A. Dehghan (Abbas); A. Hofman (Albert); A.G. Uitterlinden (André); A.L. DeStefano (Anita); S. Debette (Stéphanie); L. Xue (Luting); A. Beiser (Alexa); P.A. Wolf (Philip); C. DeCarli (Charles); M.A. Ikram (Arfan); S. Seshadri (Sudha); T.H. Mosley (Thomas); W.T. Longstreth Jr; C.M. van Duijn (Cock); L.J. Launer (Lenore)

    2014-01-01

    textabstractBackground and Purpose - Beyond the Framingham Stroke Risk Score, prediction of future stroke may improve with a genetic risk score (GRS) based on single-nucleotide polymorphisms associated with stroke and its risk factors. Methods - The study includes 4 population-based cohorts with 204

  14. Caries risk assessment models in caries prediction

    Directory of Open Access Journals (Sweden)

    Amila Zukanović

    2013-11-01

    Full Text Available Objective. The aim of this research was to assess the efficiency of different multifactor models in caries prediction. Material and methods. Data from the questionnaire and objective examination of 109 examinees was entered into the Cariogram, Previser and Caries-Risk Assessment Tool (CAT multifactor risk assessment models. Caries risk was assessed with the help of all three models for each patient, classifying them as low, medium or high-risk patients. The development of new caries lesions over a period of three years [Decay Missing Filled Tooth (DMFT increment = difference between Decay Missing Filled Tooth Surface (DMFTS index at baseline and follow up], provided for examination of the predictive capacity concerning different multifactor models. Results. The data gathered showed that different multifactor risk assessment models give significantly different results (Friedman test: Chi square = 100.073, p=0.000. Cariogram is the model which identified the majority of examinees as medium risk patients (70%. The other two models were more radical in risk assessment, giving more unfavorable risk –profiles for patients. In only 12% of the patients did the three multifactor models assess the risk in the same way. Previser and CAT gave the same results in 63% of cases – the Wilcoxon test showed that there is no statistically significant difference in caries risk assessment between these two models (Z = -1.805, p=0.071. Conclusions. Evaluation of three different multifactor caries risk assessment models (Cariogram, PreViser and CAT showed that only the Cariogram can successfully predict new caries development in 12-year-old Bosnian children.

  15. Current controversies in turner syndrome: Genetic testing, assisted reproduction, and cardiovascular risks

    Directory of Open Access Journals (Sweden)

    Amanda Ackermann

    2014-09-01

    Full Text Available Patients with Turner syndrome (TS require close medical follow-up and management for cardiac abnormalities, growth and reproductive issues. This review summarizes current controversies in this condition, including: 1 the optimal genetic testing for Turner syndrome patients, particularly with respect to identification of Y chromosome material that may increase the patient's risk of gonadoblastoma and dysgerminoma, 2 which patients should be referred for bilateral gonadectomy and the recommended timing of such referral, 3 options for assisted reproduction in these patients and associated risks, 4 the increased risk of mortality associated with pregnancy in this population, and 5 how best to assess and monitor cardiovascular risks.

  16. Sex differences in genetic and environmental risk factors for irrational fears and phobias.

    Science.gov (United States)

    Kendler, K S; Jacobson, K C; Myers, J; Prescott, C A

    2002-02-01

    For irrational fears and their associated phobias, epidemiological studies suggest sex differences in prevalence and twin studies report significant genetic effects. How does sex impact on the familial transmission of liability to fears and phobias? In personal interviews with over 3000 complete pairs (of whom 1058 were opposite-sex dizygotic pairs), ascertained from a population-based registry, we assessed the lifetime prevalence of five phobias and their associated irrational fears analysed using a multiple threshold model. Twin resemblance was assessed by polychoric correlations and biometrical model-fitting incorporating sex-specific effects. For agoraphobia, situational and blood/injury fear/phobia, the best fit model suggested equal heritability in males and females and genetic correlations between the sexes of less than +0.50. For animal fear/phobias by contrast, the best fit model suggested equal heritability in males and females and a genetic correlation of unity. No evidence was found for an impact of family environment on liability to these fears or phobias. For social phobias, twin resemblance in males was explained by genetic factors and in females by familial-environmental factors. The impact of sex on genetic risk may differ meaningfully across phobia subtypes. Sex-specific genetic risk factors may exist for agoraphobia, social, situational and blood-injury phobias but not for animal fear/phobia. These results should be interpreted in the context of the limited power of twin studies, even with large sample sizes, to resolve sex-specific genetic effects.

  17. Cheese Microbial Risk Assessments — A Review

    Directory of Open Access Journals (Sweden)

    Kyoung-Hee Choi

    2016-03-01

    Full Text Available Cheese is generally considered a safe and nutritious food, but foodborne illnesses linked to cheese consumption have occurred in many countries. Several microbial risk assessments related to Listeria monocytogenes, Staphylococcus aureus, and Escherichia coli infections, causing cheese-related foodborne illnesses, have been conducted. Although the assessments of microbial risk in soft and low moisture cheeses such as semi-hard and hard cheeses have been accomplished, it has been more focused on the correlations between pathogenic bacteria and soft cheese, because cheese-associated foodborne illnesses have been attributed to the consumption of soft cheeses. As a part of this microbial risk assessment, predictive models have been developed to describe the relationship between several factors (pH, Aw, starter culture, and time and the fates of foodborne pathogens in cheese. Predictions from these studies have been used for microbial risk assessment as a part of exposure assessment. These microbial risk assessments have identified that risk increased in cheese with high moisture content, especially for raw milk cheese, but the risk can be reduced by preharvest and postharvest preventions. For accurate quantitative microbial risk assessment, more data including interventions such as curd cooking conditions (temperature and time and ripening period should be available for predictive models developed with cheese, cheese consumption amounts and cheese intake frequency data as well as more dose-response models.

  18. Analysis of genetic and non genetic risk factors for cisplatin ototoxicity in pediatric patients.

    Science.gov (United States)

    Olgun, Yüksel; Aktaş, Safiye; Altun, Zekiye; Kırkım, Günay; Kızmazoğlu, Deniz Çakır; Erçetin, Ayşe Pınar; Demir, Banu; İnce, Dilek; Mutafoğlu, Kamer; Demirağ, Bengü; Ellidokuz, Hülya; Olgun, Nur; Güneri, Enis Alpin

    2016-11-01

    The aim of this study was to analyse the genetic and non genetic risk factors for cisplatin ototoxicity. This study was conducted on 72 children who received cisplatin based chemotherapy. Brock and Muenster classifications were used to evaluate ototoxicity seen in these children. 6 single nucleotide polymorphisms (SNP); ERCC1 rs 11615, GSTP1 rs1138272, GSTP1 rs1695, LRP2 rs 2075252, TPMT rs 12201199, COMT rs 9332377, were evaluated as genetic factors by real time PCR. Non genetic factors such as cranial irradiation, cumulative doses of cisplatin, age, gender, administration of other ototoxic drugs were analysed as well. By using Chi-square test, risk factors were matched with the ototoxicity classifications. Significant risk factors were reevaluated using logistic regression modelling. According to univariate analyses, male gender, co-treatment with aminoglycosides and mutant genotype of GSTP1 rs1695 were significantly related with cisplatin ototoxicity. Logistic regression modelling analyses also showed that male gender, co-treatment with aminoglycosides were found to be significantly related with cisplatin ototoxicity. Mutant genotype of GSTP1 rs1695 was not found to be significant, but close to the level of statistical significance. Male gender, co-treatment with aminoglycosides are significant risk factors for cisplatin ototoxicity in pediatric patients. Mutant genotype of GSTP1 rs1695 seems to be a genetic risk factor in univariate analyses, although not confirmed by multivariate analyses. Therefore, GSTP1 rs1695 SNP needs to be studied in larger series. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  19. Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era

    Directory of Open Access Journals (Sweden)

    Costain G

    2012-02-01

    Full Text Available Gregory Costain1,2, Anne S Bassett1–41Clinical Genetics Research Program, Centre for Addiction and Mental Health, 2Institute of Medical Science, University of Toronto, 3Division of Cardiology, Department of Medicine and Department of Psychiatry, University Health Network, 4Department of Psychiatry, University of Toronto, Toronto, Ontario, CanadaAbstract: Schizophrenia is a complex neuropsychiatric disease with documented clinical and genetic heterogeneity, and evidence for neurodevelopmental origins. Driven by new genetic technologies and advances in molecular medicine, there has recently been concrete progress in understanding some of the specific genetic causes of this serious psychiatric illness. In particular, several large rare structural variants have been convincingly associated with schizophrenia, in targeted studies over two decades with respect to 22q11.2 microdeletions, and more recently in large-scale, genome-wide case-control studies. These advances promise to help many families afflicted with this disease. In this review, we critically appraise recent developments in the field of schizophrenia genetics through the lens of immediate clinical applicability. Much work remains in translating the recent surge of genetic research discoveries into the clinic. The epidemiology and basic genetic parameters (such as penetrance and expression of most genomic disorders associated with schizophrenia are not yet well characterized. To date, 22q11.2 deletion syndrome is the only established genetic subtype of schizophrenia of proven clinical relevance. We use this well-established association as a model to chart the pathway for translating emerging genetic discoveries into clinical practice. We also propose new directions for research involving general genetic risk prediction and counseling in schizophrenia.Keywords: schizophrenia, genetics, 22q11 deletion syndrome, copy number variation, genetic counseling, genetic predisposition to disease

  20. Neuroimaging and genetic risk for Alzheimer's disease and addiction-related degenerative brain disorders.

    Science.gov (United States)

    Roussotte, Florence F; Daianu, Madelaine; Jahanshad, Neda; Leonardo, Cassandra D; Thompson, Paul M

    2014-06-01

    Neuroimaging offers a powerful means to assess the trajectory of brain degeneration in a variety of disorders, including Alzheimer's disease (AD). Here we describe how multi-modal imaging can be used to study the changing brain during the different stages of AD. We integrate findings from a range of studies using magnetic resonance imaging (MRI), positron emission tomography (PET), functional MRI (fMRI) and diffusion weighted imaging (DWI). Neuroimaging reveals how risk genes for degenerative disorders affect the brain, including several recently discovered genetic variants that may disrupt brain connectivity. We review some recent neuroimaging studies of genetic polymorphisms associated with increased risk for late-onset Alzheimer's disease (LOAD). Some genetic variants that increase risk for drug addiction may overlap with those associated with degenerative brain disorders. These common associations offer new insight into mechanisms underlying neurodegeneration and addictive behaviors, and may offer new leads for treating them before severe and irreversible neurological symptoms appear.

  1. THERAPEUTIC IMPLICATIONS OF GENETIC RISK VARIANTS FOR CORONARY ARTERY DISEASE

    Directory of Open Access Journals (Sweden)

    Rajiv Kumar Srivastava

    2017-02-01

    Full Text Available BACKGROUND This review covers therapeutic implication of genetic risk variant responsible for coronary artery disease by utilising the highdensity single-nucleotide microarrays to screen the entire human genome. The sequence of the human genome provides the blueprint for life. Approximately, 99.5% of the human genome Deoxyribonucleic Acid (DNA sequence is identical among humans with 0.5% of the genome sequence (15 million bps accounting for all individual differences. MATERIALS AND METHODS The new technology of the computerised chip array of millions of Single-Nucleotide Polymorphisms (SNPs as Deoxyribonucleic Acid (DNA markers makes it possible to study and detect genetic predisposition to common polygenic disorders such as Coronary Artery Disease (CAD. The sample sizes required for these studies are massive and large; worldwide consortiums such as Coronary Artery Disease Genome-wide Replication and Meta-Analysis (CARDIoGRAM study have been formed to accommodate this requirement. After the identification of 9p21 progress to detect genetic predisposition has been remarkable. RESULTS There are currently a total of 50 genetic risk variants predisposing to CAD of genome-wide significance with confirmation in independent populations. Rare variants (Minor Allele Frequency, MAF <5% will require direct sequencing to detect genetic predisposition. CONCLUSION We can develop new biomarkers for detecting early CAD as well as unique targets for novel therapy. The challenge for the future will be to identify the molecular mechanisms mediating the risk of those genetic risk variants that act through nonconventional risk factors. The ultimate objective for the future is the sequencing and functional analysis of the causative polymorphisms for its therapeutic implications.

  2. Risk Assessment: Perchloroethylene Dry Cleaners Refined Human Health Risk Characterization

    Science.gov (United States)

    This November 2005 memo and appendices describe the methods by which EPA conducted its refined risk assessment of the Major Source and Area Source facilities within the perchloroethylene (perc) dry cleaners source category.

  3. An IOT Security Risk Autonomic Assessment Algorithm

    Directory of Open Access Journals (Sweden)

    Zhengchao Ma

    2013-02-01

    Full Text Available In terms of Internet of Things (IOT system with the possibility criterion of fuzziness and randomness security risk, we qualitatively analyze the security risk level of IOT security scene by describing generalization metrics the potential impact and likelihood of occurrence of every major threat scenarios. On this basis, we proposed self-assessment algorithm of IOT security risk, adopting three-dimensional normal cloud model integrated consideration of risk indicators, researching the multi-rule mapping relationship between the qualitative input of safety indicators and the quantitative reasoning of self-assessment. Finally, we build security risk assessment simulation platform, and verify the validity and accuracy of the algorithm in the premise of substantiating the risk level and the safety criterion domain.

  4. Systems Toxicology: The Future of Risk Assessment.

    Science.gov (United States)

    Sauer, John Michael; Hartung, Thomas; Leist, Marcel; Knudsen, Thomas B; Hoeng, Julia; Hayes, A Wallace

    2015-01-01

    Risk assessment, in the context of public health, is the process of quantifying the probability of a harmful effect to individuals or populations from human activities. With increasing public health concern regarding the potential risks associated with chemical exposure, there is a need for more predictive and accurate approaches to risk assessment. Developing such an approach requires a mechanistic understanding of the process by which xenobiotic substances perturb biological systems and lead to toxicity. Supplementing the shortfalls of traditional risk assessment with mechanistic biological data has been widely discussed but not routinely implemented in the evaluation of chemical exposure. These mechanistic approaches to risk assessment have been generally referred to as systems toxicology. This Symposium Overview article summarizes 4 talks presented at the 35th Annual Meeting of the American College of Toxicology.

  5. Survey: Risk Assessment for Cloud Computing

    Directory of Open Access Journals (Sweden)

    Drissi S.

    2013-01-01

    Full Text Available with the increase in the growth of cloud computing and the changes in technology that have resulted a new ways for cloud providers to deliver their services to cloud consumers, the cloud consumers should be aware of the risks and vulnerabilities present in the current cloud computing environment. An information security risk assessment is designed specifically for that task. However, there is lack of structured risk assessment approach to do it. This paper aims to survey existing knowledge regarding risk assessment for cloud computing and analyze existing use cases from cloud computing to identify the level of risk assessment realization in state of art systems and emerging challenges for future research.

  6. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study.

    Science.gov (United States)

    Milne, Roger L; Gaudet, Mia M; Spurdle, Amanda B; Fasching, Peter A; Couch, Fergus J; Benítez, Javier; Arias Pérez, José Ignacio; Zamora, M Pilar; Malats, Núria; Dos Santos Silva, Isabel; Gibson, Lorna J; Fletcher, Olivia; Johnson, Nichola; Anton-Culver, Hoda; Ziogas, Argyrios; Figueroa, Jonine; Brinton, Louise; Sherman, Mark E; Lissowska, Jolanta; Hopper, John L; Dite, Gillian S; Apicella, Carmel; Southey, Melissa C; Sigurdson, Alice J; Linet, Martha S; Schonfeld, Sara J; Freedman, D Michal; Mannermaa, Arto; Kosma, Veli-Matti; Kataja, Vesa; Auvinen, Päivi; Andrulis, Irene L; Glendon, Gord; Knight, Julia A; Weerasooriya, Nayana; Cox, Angela; Reed, Malcolm Wr; Cross, Simon S; Dunning, Alison M; Ahmed, Shahana; Shah, Mitul; Brauch, Hiltrud; Ko, Yon-Dschun; Brüning, Thomas; Lambrechts, Diether; Reumers, Joke; Smeets, Ann; Wang-Gohrke, Shan; Hall, Per; Czene, Kamila; Liu, Jianjun; Irwanto, Astrid K; Chenevix-Trench, Georgia; Holland, Helene; Giles, Graham G; Baglietto, Laura; Severi, Gianluca; Bojensen, Stig E; Nordestgaard, Børge G; Flyger, Henrik; John, Esther M; West, Dee W; Whittemore, Alice S; Vachon, Celine; Olson, Janet E; Fredericksen, Zachary; Kosel, Matthew; Hein, Rebecca; Vrieling, Alina; Flesch-Janys, Dieter; Heinz, Judith; Beckmann, Matthias W; Heusinger, Katharina; Ekici, Arif B; Haeberle, Lothar; Humphreys, Manjeet K; Morrison, Jonathan; Easton, Doug F; Pharoah, Paul D; García-Closas, Montserrat; Goode, Ellen L; Chang-Claude, Jenny

    2010-01-01

    Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence breast cancer risk in white women of European ancestry using case-control studies participating in the Breast Cancer Association Consortium. We evaluated two-way interactions between each of age at menarche, ever having had a live birth, number of live births, age at first birth and body mass index (BMI) and each of 12 single nucleotide polymorphisms (SNPs) (10q26-rs2981582 (FGFR2), 8q24-rs13281615, 11p15-rs3817198 (LSP1), 5q11-rs889312 (MAP3K1), 16q12-rs3803662 (TOX3), 2q35-rs13387042, 5p12-rs10941679 (MRPS30), 17q23-rs6504950 (COX11), 3p24-rs4973768 (SLC4A7), CASP8-rs17468277, TGFB1-rs1982073 and ESR1-rs3020314). Interactions were tested for by fitting logistic regression models including per-allele and linear trend main effects for SNPs and risk factors, respectively, and single-parameter interaction terms for linear departure from independent multiplicative effects. These analyses were applied to data for up to 26,349 invasive breast cancer cases and up to 32,208 controls from 21 case-control studies. No statistical evidence of interaction was observed beyond that expected by chance. Analyses were repeated using data from 11 population-based studies, and results were very similar. The relative risks for breast cancer associated with the common susceptibility variants identified to date do not appear to vary across women with different reproductive histories or body mass index (BMI). The assumption of multiplicative combined effects for these established genetic and other risk factors in risk prediction models appears justified.

  7. Genetic risk factors for type 1 diabetes

    DEFF Research Database (Denmark)

    Pociot, Flemming; Lernmark, Åke

    2016-01-01

    Type 1 diabetes is diagnosed at the end of a prodrome of β-cell autoimmunity. The disease is most likely triggered at an early age by autoantibodies primarily directed against insulin or glutamic acid decarboxylase, or both, but rarely against islet antigen-2. After the initial appearance of one...... of the three stages can differ. Type 1 diabetes could serve as a disease model for organ-specific autoimmune disorders such as coeliac disease, thyroiditis, and Addison's disease, which show similar early markers of a prolonged disease process before clinical diagnosis....... of these autoantibody biomarkers, a second, third, or fourth autoantibody against either islet antigen-2 or the ZnT8 transporter might also appear. The larger the number of β-cell autoantibody types, the greater the risk of rapid progression to clinical onset of diabetes. This association does not necessarily mean...

  8. Genetically Modified Crops: Risks and Promise

    Directory of Open Access Journals (Sweden)

    Gordon Conway

    2000-07-01

    Full Text Available GM foods have the potential to provide significant benefits for developing countries. Over 800 million people are chronically undernourished, and 180 million children are severely underweight for their age. By 2020, there will be an extra two billion mouths to feed. Ecological approaches that underpin sustainable agriculture (e.g., integrated pest management and participatory approaches that strengthen farmers' own experimentation and decision making are key. Biotechnology will be an essential partner, if yield ceilings are to be raised, if crops are to be grown without excessive reliance on pesticides, and if farmers on less favored lands are to be provided with crops that are resistant to drought and salinity, and that can use nitrogen and other nutrients more efficiently. Over the past 10 years, in addition supporting ecological approaches, the Rockefeller Foundation has funded the training of some 400 developing-country scientists in the techniques of biotechnology. Most of the new crop varieties are the result of tissue culture and marker-aided selection. The Foundation also supports the production of genetically engineered rices, including a new rice engineered for beta carotene (the precursor of Vitamin A in the grain. Some specific steps can be taken by Monsanto that would improve acceptance of plant biotechnology in both the developing and the industrialized worlds: label; disavow gene protection (terminator systems; phase out the use of antibiotic resistance markers; agree (with big seed companies to use the plant variety protection system, rather than patents, in developing countries; establish an independently administered fellowship program to train developing-country scientists in crop biotechnology, biosafety, and intellectual property; donate useful technologies to developing countries; agree to share financial rewards from intellectual property rights on varieties such as basmati or jasmine rice with the countries of origin; and

  9. Increased genetic risk for obesity in premature coronary artery disease.

    Science.gov (United States)

    Cole, Christopher B; Nikpay, Majid; Stewart, Alexandre F R; McPherson, Ruth

    2016-04-01

    There is ongoing controversy as to whether obesity confers risk for CAD independently of associated risk factors including diabetes mellitus. We have carried out a Mendelian randomization study using a genetic risk score (GRS) for body mass index (BMI) based on 35 risk alleles to investigate this question in a population of 5831 early onset CAD cases without diabetes mellitus and 3832 elderly healthy control subjects, all of strictly European ancestry, with adjustment for traditional risk factors (TRFs). We then estimated the genetic correlation between these BMI and CAD (rg) by relating the pairwise genetic similarity matrix to a phenotypic covariance matrix between these two traits. GRSBMI significantly (P=2.12 × 10(-12)) associated with CAD status in a multivariate model adjusted for TRFs, with a per allele odds ratio (OR) of 1.06 (95% CI 1.042-1.076). The addition of GRSBMI to TRFs explained 0.75% of CAD variance and yielded a continuous net recombination index of 16.54% (95% CI=11.82-21.26%, Pobesity and CAD. This analysis supports the hypothesis that obesity is a causal risk factor for CAD.

  10. NASA Human System Risk Assessment Process

    Science.gov (United States)

    Francisco, D.; Romero, E.

    2016-01-01

    NASA utilizes an evidence based system to perform risk assessments for the human system for spaceflight missions. The center of this process is the multi-disciplinary Human System Risk Board (HSRB). The HSRB is chartered from the Chief Health and Medical Officer (OCHMO) at NASA Headquarters. The HSRB reviews all human system risks via an established comprehensive risk and configuration management plan based on a project management approach. The HSRB facilitates the integration of human research (terrestrial and spaceflight), medical operations, occupational surveillance, systems engineering and many other disciplines in a comprehensive review of human system risks. The HSRB considers all factors that influence human risk. These factors include pre-mission considerations such as screening criteria, training, age, sex, and physiological condition. In mission factors such as available countermeasures, mission duration and location and post mission factors such as time to return to baseline (reconditioning), post mission health screening, and available treatments. All of the factors influence the total risk assessment for each human risk. The HSRB performed a comprehensive review of all potential inflight medical conditions and events and over the course of several reviews consolidated the number of human system risks to 30, where the greatest emphasis is placed for investing program dollars for risk mitigation. The HSRB considers all available evidence from human research and, medical operations and occupational surveillance in assessing the risks for appropriate mitigation and future work. All applicable DRMs (low earth orbit for 6 and 12 months, deep space for 30 days and 1 year, a lunar mission for 1 year, and a planetary mission for 3 years) are considered as human system risks are modified by the hazards associated with space flight such as microgravity, exposure to radiation, distance from the earth, isolation and a closed environment. Each risk has a summary

  11. Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms

    NARCIS (Netherlands)

    van 't Hof, Femke N G; Ruigrok, Ynte M; Lee, Cue Hyunkyu; Ripke, Stephan; Anderson, Graig; de Andrade, Mariza; Baas, Annette F; Blankensteijn, Jan D; Böttinger, Erwin P; Bown, Matthew J; Broderick, Joseph; Bijlenga, Philippe; Carrell, David S; Crawford, Dana C; Crosslin, David R; Ebeling, Christian; Eriksson, Johan G; Fornage, Myriam; Foroud, Tatiana; von Und Zu Fraunberg, Mikael; Friedrich, Christoph M; Gaál, Emília I; Gottesman, Omri; Guo, Dong-Chuan; Harrison, Seamus C; Hernesniemi, Juha; Hofman, Albert; Inoue, Ituro; Jääskeläinen, Juha E; Jones, Gregory T; Kiemeney, Lambertus A L M; Kivisaari, Riku; Ko, Nerissa; Koskinen, Seppo; Kubo, Michiaki; Kullo, Iftikhar J; Kuivaniemi, Helena; Kurki, Mitja I; Laakso, Aki; Lai, Dongbing; Leal, Suzanne M; Lehto, Hanna; LeMaire, Scott A; Low, Siew-Kee; Malinowski, Jennifer; McCarty, Catherine A; Milewicz, Dianna M; Mosley, Thomas H; Nakamura, Yusuke; Nakaoka, Hirofumi; Niemelä, Mika; Pacheco, Jennifer; Peissig, Peggy L; Pera, Joanna; Rasmussen-Torvik, Laura; Ritchie, Marylyn D; Rivadeneira, Fernando; van Rij, Andre M; Santos-Cortez, Regie Lyn P; Saratzis, Athanasios; Slowik, Agnieszka; Takahashi, Atsushi; Tromp, Gerard; Uitterlinden, André G; Verma, Shefali S; Vermeulen, Sita H; Wang, Gao T; Han, Buhm; Rinkel, Gabriël J E; de Bakker, Paul I W

    2016-01-01

    BACKGROUND: Intracranial aneurysms (IAs), abdominal aortic aneurysms (AAAs), and thoracic aortic aneurysms (TAAs) all have a familial predisposition. Given that aneurysm types are known to co-occur, we hypothesized that there may be shared genetic risk factors for IAs, AAAs, and TAAs. METHODS AND RE

  12. Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms

    NARCIS (Netherlands)

    van 't Hof, Femke N G|info:eu-repo/dai/nl/341753610; Ruigrok, Ynte M|info:eu-repo/dai/nl/303621222; Lee, Cue Hyunkyu; Ripke, Stephan; Anderson, Graig; de Andrade, Mariza; Baas, Annette F; Blankensteijn, Jan D; Böttinger, Erwin P; Bown, Matthew J; Broderick, Joseph; Bijlenga, Philippe; Carrell, David S; Crawford, Dana C; Crosslin, David R; Ebeling, Christian; Eriksson, Johan G; Fornage, Myriam; Foroud, Tatiana; von Und Zu Fraunberg, Mikael; Friedrich, Christoph M; Gaál, Emília I; Gottesman, Omri; Guo, Dong-Chuan; Harrison, Seamus C; Hernesniemi, Juha; Hofman, Albert; Inoue, Ituro; Jääskeläinen, Juha E; Jones, Gregory T; Kiemeney, Lambertus A L M; Kivisaari, Riku; Ko, Nerissa; Koskinen, Seppo; Kubo, Michiaki; Kullo, Iftikhar J; Kuivaniemi, Helena; Kurki, Mitja I; Laakso, Aki; Lai, Dongbing; Leal, Suzanne M; Lehto, Hanna; LeMaire, Scott A; Low, Siew-Kee; Malinowski, Jennifer; McCarty, Catherine A; Milewicz, Dianna M; Mosley, Thomas H; Nakamura, Yusuke; Nakaoka, Hirofumi; Niemelä, Mika; Pacheco, Jennifer; Peissig, Peggy L; Pera, Joanna; Rasmussen-Torvik, Laura; Ritchie, Marylyn D; Rivadeneira, Fernando; van Rij, Andre M; Santos-Cortez, Regie Lyn P; Saratzis, Athanasios; Slowik, Agnieszka; Takahashi, Atsushi; Tromp, Gerard; Uitterlinden, André G; Verma, Shefali S; Vermeulen, Sita H; Wang, Gao T; Han, Buhm; Rinkel, Gabriël J E|info:eu-repo/dai/nl/085712000; de Bakker, Paul I W|info:eu-repo/dai/nl/342957082

    2016-01-01

    BACKGROUND: Intracranial aneurysms (IAs), abdominal aortic aneurysms (AAAs), and thoracic aortic aneurysms (TAAs) all have a familial predisposition. Given that aneurysm types are known to co-occur, we hypothesized that there may be shared genetic risk factors for IAs, AAAs, and TAAs. METHODS AND RE

  13. Interaction between 5 genetic variants and allergy in glioma risk

    DEFF Research Database (Denmark)

    Schoemaker, Minouk J; Robertson, Lindsay; Wigertz, Annette

    2010-01-01

    The etiology of glioma is barely known. Epidemiologic studies have provided evidence for an inverse relation between glioma risk and allergic disease. Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8q24.21 (rs4295627, CCDC26), 9p21.3 (rs4977756...

  14. Cardiovascular risk assessment in diabetes

    NARCIS (Netherlands)

    Djaberi, Roxana

    2014-01-01

    Research described in this thesis is based on clinical data obtained through diabetes cardiovascular risk management (DIACARM) project. A clinical protocol founded on the co-operation of the departments of endocrinology, cardiology, nephrology, radiology and nuclear medicine at the Leiden University

  15. Risk assessment in support of plant health

    DEFF Research Database (Denmark)

    Jeger, Michael; Schans, Jan; Lövei, Gabor L.

    2012-01-01

    types and plants in the environment. There has been an increasing trend towards producing scientific opinions which are full pest risk assessments for the whole EU territory. In its work, and as a contribution to the wider development of risk assessment methodology, the Panel has developed a series......-evaluation of quantitative pathway analyses, and in statistical modelling of experimental data. A Plant Health Network has been established to facilitate interaction with EU Member States, especially in relation to data collection and co-ordination of risk assessment activities. At the current time a revision of the EU...

  16. Assessment factors for human health risk assessment: A discussion paper

    NARCIS (Netherlands)

    Vermeire, T.; Stevenson, H.; Pieters, M.N.; Rennen, M.; Slob, W.; Hakkert, B.C.

    1999-01-01

    The general goal of this discussion paper is to contribute toward the further harmonization of human health risk assessment. It first discusses the development of a formal, harmonized set of assessment factors. The status quo with regard to assessment factors is reviewed, that is, the type of factor

  17. An animal model of differential genetic risk for methamphetamine intake

    Directory of Open Access Journals (Sweden)

    Tamara ePhillips

    2015-09-01

    Full Text Available The question of whether genetic factors contribute to risk for methamphetamine (MA use and dependence has not been intensively investigated. Compared to human populations, genetic animal models offer the advantages of control over genetic family history and drug exposure. Using selective breeding, we created lines of mice that differ in genetic risk for voluntary MA intake and identified the chromosomal addresses of contributory genes. A quantitative trait locus was identified on chromosome 10 that accounts for more than 50% of the genetic variance in MA intake in the selected mouse lines. In addition, behavioral and physiological screening identified differences corresponding with risk for MA intake that have generated hypotheses that are testable in humans. Heightened sensitivity to aversive and certain physiological effects of MA, such as MA-induced reduction in body temperature, are hallmarks of mice bred for low MA intake. Furthermore, unlike MA-avoiding mice, MA-preferring mice are sensitive to rewarding and reinforcing MA effects, and to MA-induced increases in brain extracellular dopamine levels. Gene expression analyses implicate the importance of a network enriched in transcription factor genes, some of which regulate the mu opioid receptor gene, Oprm1, in risk for MA use. Neuroimmune factors appear to play a role in differential response to MA between the mice bred for high and low intake. In addition, chromosome 10 candidate gene studies provide strong support for a trace amine associated receptor 1 gene, Taar1, polymorphism in risk for MA intake. MA is a trace amine-associated receptor 1 (TAAR1 agonist, and a non-functional Taar1 allele segregates with high MA consumption. Thus, reduced TAAR1 function has the potential to increase risk for MA use. Overall, existing findings support the MA drinking lines as a powerful model for identifying genetic factors involved in determining risk for harmful MA use. Future directions include the

  18. Identification of genetic risk factors for maxillary lateral incisor agenesis.

    Science.gov (United States)

    Alves-Ferreira, M; Pinho, T; Sousa, A; Sequeiros, J; Lemos, C; Alonso, I

    2014-05-01

    Tooth agenesis affects 20% of the world population, and maxillary lateral incisors agenesis (MLIA) is one of the most frequent subtypes, characterized by the absence of formation of deciduous or permanent lateral incisors. Odontogenesis is a complex mechanism regulated by sequential and reciprocal epithelial-mesenchymal interactions, controlled by activators and inhibitors involved in several pathways. Disturbances in these signaling cascades can lead to abnormalities in odontogenesis, resulting in alterations in the formation of the normal teeth number. Our aim was to study a large number of genes encoding either transcription factors or key components in signaling pathways shown to be involved in tooth odontogenesis. We selected 8 genes-MSX1, PAX9, AXIN2, EDA, SPRY2, TGFA, SPRY4, and WNT10A-and performed one of the largest case-control studies taking into account the number of genes and variants assessed, aiming at the identification of MLIA susceptibility factors. We show the involvement of PAX9, EDA, SPRY2, SPRY4, and WNT10A as risk factors for MLIA. Additionally, we uncovered 3 strong synergistic interactions between MLIA liability and MSX1-TGFA, AXIN2-TGFA, and SPRY2-SPRY4 gene pairs. We report the first evidence of the involvement of sprouty genes in MLIA susceptibility. This large study results in a better understanding of the genetic components and mechanisms underlying this trait.

  19. [Study on application of two risk assessment methods in coal dust occupational health risk assessment].

    Science.gov (United States)

    Wu, B; Zhang, Y L; Chen, Y Q

    2017-04-20

    Objective: To evaluate the applicability of quantitative grading method (GBZ/T 229.1-2010) and occupational hazard risk index method in coal dust occupational health risk assessment. Methods: Taking 4 coal mines as the research object of risk assessment and making occupational health field testing and investigation. Based on two risk assessment methods, we analysed the health risk levels of 20 occupations which were exposed to coal dust in workplaces. Results: Coal dust working post had different risk levels in 4 coal mines, the post of higher risk level were mainly concentrated in the underground workplace of coal mine, especially the post of coal mining and tunneling system. The two risk assessment results showed that the risk levels of coal-mining machine drivers and tunneling machine drivers were the highest. The risk levels of coal dust working post used by two risk assessment methods had no significant difference (P>0.05) and were highly correlated (r=0.821, Prisk assessment methods were supported by the field investigation and literatures. Conclusion: The two risk assessment methods can be used in coal dust occupational health risk assessment.

  20. Subjective risk assessment for planning conservation projects

    Science.gov (United States)

    Game, Edward T.; Fitzsimons, James A.; Lipsett-Moore, Geoff; McDonald-Madden, Eve

    2013-12-01

    Conservation projects occur under many types of uncertainty. Where this uncertainty can affect achievement of a project’s objectives, there is risk. Understanding risks to project success should influence a range of strategic and tactical decisions in conservation, and yet, formal risk assessment rarely features in the guidance or practice of conservation planning. We describe how subjective risk analysis tools can be framed to facilitate the rapid identification and assessment of risks to conservation projects, and how this information should influence conservation planning. Our approach is illustrated with an assessment of risks to conservation success as part of a conservation plan for the work of The Nature Conservancy in northern Australia. Risks can be both internal and external to a project, and occur across environmental, social, economic and political systems. Based on the relative importance of a risk and the level of certainty in its assessment we propose a series of appropriate, project level responses including research, monitoring, and active amelioration. Explicit identification, prioritization, and where possible, management of risks are important elements of using conservation resources in an informed and accountable manner.

  1. Cigarette smoking, genetic polymorphisms and colorectal cancer risk: the Fukuoka Colorectal Cancer Study

    National Research Council Canada - National Science Library

    Nisa, Hoirun; Kono, Suminori; Yin, Guang; Toyomura, Kengo; Nagano, Jun; Mibu, Ryuichi; Tanaka, Masao; Kakeji, Yoshihiro; Maehara, Yoshihiko; Okamura, Takeshi; Ikejiri, Koji; Futami, Kitaroh; Maekawa, Takafumi; Yasunami, Yohichi; Takenaka, Kenji; Ichimiya, Hitoshi; Terasaka, Reiji

    2010-01-01

    .... We investigated the relation of cigarette smoking and related genetic polymorphisms to colorectal cancer risk, with special reference to the interaction between smoking and genetic polymorphism...

  2. Genetic Predisposition to Dyslipidemia and Risk of Preeclampsia.

    Science.gov (United States)

    Spracklen, Cassandra N; Saftlas, Audrey F; Triche, Elizabeth W; Bjonnes, Andrew; Keating, Brendan; Saxena, Richa; Breheny, Patrick J; Dewan, Andrew T; Robinson, Jennifer G; Hoh, Josephine; Ryckman, Kelli K

    2015-07-01

    Large epidemiologic studies support the role of dyslipidemia in preeclampsia; however, the etiology of preeclampsia or whether dyslipidemia plays a causal role remains unclear. We examined the association between the genetic predisposition to dyslipidemia and risk of preeclampsia using validated genetic markers of dyslipidemia. Preeclampsia cases (n = 164) and normotensive controls (n = 110) were selected from live birth certificates to nulliparous Iowa women during the period August 2002 to May 2005. Disease status was verified by medical chart review. Genetic predisposition to dyslipidemia was estimated by 4 genetic risk scores (GRS) (total cholesterol (TC), LDL cholesterol (LDL-C), HDL cholesterol (HDL-C), and triglycerides) on the basis of established loci for blood lipids. Logistic regression analyses were used to evaluate the relationships between each of the 4 genotype scores and preeclampsia. Replication analyses were performed in an independent, US population of preeclampsia cases (n = 516) and controls (n = 1,097) of European ancestry. The GRS related to higher levels of TC, LDL-C, and triglycerides demonstrated no association with the risk of preeclampsia in either the Iowa or replication population. The GRS related to lower HDL-C was marginally associated with an increased risk for preeclampsia (odds ratio (OR) = 1.03, 95% confidence interval (CI) = 0.99-1.07; P = 0.10). In the independent replication population, the association with the HDL-C GRS was also marginally significant (OR = 1.03, 95% CI: 1.00-1.06; P = 0.04). Our data suggest a potential effect between the genetic predisposition to dyslipidemic levels of HDL-C and an increased risk of preeclampsia, and, as such, suggest that dyslipidemia may be a component along the causal pathway to preeclampsia. © American Journal of Hypertension, Ltd 2014. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  3. Comprehensive assessment and network analysis of the emerging genetic susceptibility landscape of prostate cancer.

    Science.gov (United States)

    Hicks, Chindo; Miele, Lucio; Koganti, Tejaswi; Vijayakumar, Srinivasan

    2013-01-01

    Recent advances in high-throughput genotyping have made possible identification of genetic variants associated with increased risk of developing prostate cancer using genome-wide associations studies (GWAS). However, the broader context in which the identified genetic variants operate is poorly understood. Here we present a comprehensive assessment, network, and pathway analysis of the emerging genetic susceptibility landscape of prostate cancer. We created a comprehensive catalog of genetic variants and associated genes by mining published reports and accompanying websites hosting supplementary data on GWAS. We then performed network and pathway analysis using single nucleotide polymorphism (SNP)-containing genes to identify gene regulatory networks and pathways enriched for genetic variants. We identified multiple gene networks and pathways enriched for genetic variants including IGF-1, androgen biosynthesis and androgen signaling pathways, and the molecular mechanisms of cancer. The results provide putative functional bridges between GWAS findings and gene regulatory networks and biological pathways.

  4. How probabilistic risk assessment can mislead terrorism risk analysts.

    Science.gov (United States)

    Brown, Gerald G; Cox, Louis Anthony Tony

    2011-02-01

    Traditional probabilistic risk assessment (PRA), of the type originally developed for engineered systems, is still proposed for terrorism risk analysis. We show that such PRA applications are unjustified in general. The capacity of terrorists to seek and use information and to actively research different attack options before deciding what to do raises unique features of terrorism risk assessment that are not adequately addressed by conventional PRA for natural and engineered systems-in part because decisions based on such PRA estimates do not adequately hedge against the different probabilities that attackers may eventually act upon. These probabilities may differ from the defender's (even if the defender's experts are thoroughly trained, well calibrated, unbiased probability assessors) because they may be conditioned on different information. We illustrate the fundamental differences between PRA and terrorism risk analysis, and suggest use of robust decision analysis for risk management when attackers may know more about some attack options than we do.

  5. Operationalization Of The Professional Risks Assessment Activity

    Science.gov (United States)

    Ivascu, Victoria Larisa; Cirjaliu, Bianca; Draghici, Anca

    2015-07-01

    Professional risks assessment approach (integration of analysis and evaluation processes) is linked with the general concerns of nowadays companies for their employees' health and safety assurances, in the context of organizations sustainable development. The paper presents an approach for the operationalization of the professional risk assessment activity in companies through the implementation and use of the OnRisk platform (this have been tested in some industrial companies). The short presentation of the relevant technical reports and statistics on OSH management at the European Union level underlines the need for the development of a professional risks assessment. Finally, there have been described the designed and developed OnRisk platform as a web platform together with some case studies that have validate the created tool.

  6. Life Cycle Assessment and Risk Assessment: A Methodological Comparison

    DEFF Research Database (Denmark)

    Olsen, Stig Irving; Christensen, Frans Møller; Hauschild, Michael Zwicky

    2001-01-01

    Life Cycle Assessment and Risk Assessment are two different tools in environmental management. The paper identifies harmonies, discrepancies and relations between the two tools exemplified by the risk assessment principles of the European Commission (EC) and the LCA method ‘EDIP’ (En-vironmental...... conditions. It is concluded that the conceptual background and the purpose of the tools are different but that there are overlaps where they may benefit from each other and they do complement each other in an overall environmental effort....... Design of Industrial Products) developed in Denmark, respectively. A very important feature of LCA is the relative assessment due to the use of a functional unit. Risk assessment on the other hand is an absolute assessment, which may require very specific and detailed information on e.g. the exposure...

  7. Assessing Risk with GASB Statement No. 3.

    Science.gov (United States)

    Wood, Venita M.; Scott, Bob

    1987-01-01

    Discusses a Government Accounting Standards Board (GASB) publication designed to provide financial statement users with information to assess a government's actual and future deposit and investment market and credit risk. (MLF)

  8. Framework for Shared Drinking Water Risk Assessment.

    Energy Technology Data Exchange (ETDEWEB)

    Lowry, Thomas Stephen [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Tidwell, Vincent C. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Peplinski, William John [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Mitchell, Roger [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Binning, David [AEM Corp., Herndon, VA (United States); Meszaros, Jenny [AEM Corp., Herndon, VA (United States)

    2017-01-01

    Central to protecting our nation's critical infrastructure is the development of methodologies for prioritizing action and supporting resource allocation decisions associated with risk-reduction initiatives. Toward this need a web-based risk assessment framework that promotes the anonymous sharing of results among water utilities is demonstrated. Anonymous sharing of results offers a number of potential advantages such as assistance in recognizing and correcting bias, identification of 'unknown, unknowns', self-assessment and benchmarking for the local utility, treatment of shared assets and/or threats across multiple utilities, and prioritization of actions beyond the scale of a single utility. The constructed framework was demonstrated for three water utilities. Demonstration results were then compared to risk assessment results developed using a different risk assessment application by a different set of analysts.

  9. Center for Advancing Microbial Risk Assessment

    Data.gov (United States)

    Federal Laboratory Consortium — The Center for Advancing Microbial Risk Assessment (CAMRA), based at Michigan State University and jointly funded by the U.S. Department of Homeland Security and the...

  10. Safety Factors in Pesticide Risk Assessment

    DEFF Research Database (Denmark)

    Elmegaard, N.; Jagers op Akkerhuis, G. A. J. M.

    Foreword It has become common practice to protect the environment from hazardous chemicals by use of risk assessment to establish environmental concentration at which only limited damage to the ecosystem can be expected. The methods and tools applied in the risk assessment need constant evaluation...... to secure that the methodology is adequate. As new knowledge surfaces the risk assessment procedures develops. The present report is a contribution to the development of safety factors used to account for the uncertainty when · extrapolating from the results of test with a single species in the laboratory...... factors used in pesticide risk assessment: the variability in species sensitivities, and the relationship between acute LC50's and chronic NOEC's....

  11. Procedures for health risk assessment in Europe

    NARCIS (Netherlands)

    Seeley, M.R.; Tonner-Navarro, L.E.; Beck, B.D.; Deskin, R.; Feron, V.J.; Johanson, G.; Bolt, H.M.

    2001-01-01

    This report compares cancer classification systems, health risk assessment approaches, and procedures used for establishing occupational exposure limits (OELs), in various European countries and scientific organizations. The objectives were to highlight and compare key aspects of these processes and

  12. Risk assessment in support of plant health

    DEFF Research Database (Denmark)

    Jeger, Michael; Schans, Jan; Lövei, Gabor L.

    2012-01-01

    With the establishment of the Plant Health Panel in 2006, EFSA became the body responsible for risk assessment in the plant health area for the European Union (EU). Since then more than 70 outputs have been produced dealing with the full range of organisms harmful to plant health across all crop...... of guidance documents. These deal with the peer review of existing pest risk assessments, a framework for conducting risk assessments which harmonise standards set by the International Plant Protection Convention and the legislative requirements of the EU, and extension of this framework to include......-evaluation of quantitative pathway analyses, and in statistical modelling of experimental data. A Plant Health Network has been established to facilitate interaction with EU Member States, especially in relation to data collection and co-ordination of risk assessment activities. At the current time a revision of the EU...

  13. Asbestos Workshop: Sampling, Analysis, and Risk Assessment

    Science.gov (United States)

    2012-03-01

    coatings Vinyl/asbestos floor tile Automatic transmission components Clutch facings Disc brake pads Drum brake linings Brake blocks Commercial and...1EMDQ March 2012 ASBESTOS WORKSHOP: SAMPLING, ANALYSIS , AND RISK ASSESSMENT Paul Black, PhD, Neptune and Company Ralph Perona, DABT, Neptune and...Sampling, Analysis , and Risk Assessment 5a. CONTRACT NUMBER 5b. GRANT NUMBER 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) 5d. PROJECT NUMBER 5e. TASK

  14. Latest developments in foodborne pathogen risk assessment

    OpenAIRE

    Membré, Jeanne Marie; Guillou, Sandrine

    2016-01-01

    Microbiological Risk Assessment (MRA) is a structured process for determining the public health risk associated with foodborne pathogens. In recent years, there has been a strong tendency in providing food safety decisions based upon quantitative assessment. Especially, variability and uncertainty inherent to biological processes have been integrated in food safety management through the use of powerful statistical and probabilistic techniques. Besides, recent developments in omic technologie...

  15. UAV Swarm Operational Risk Assessment system

    OpenAIRE

    Marfo, Sariyu; Ehler, Shane; Fields, Ryan; Negron, Jamaries Benitez; Skopak, Shane; Junek, John; Zarzaca, Justin; Perrotta, Robert; Team CQ Alpha; Cohort 311-141A

    2015-01-01

    Approved for public release; distribution is unlimited This paper examines the need for a UAV Swarm Risk Assessment Tool and how it can assist the Navy’s decision makers in assessing risk of UAV swarm threats in littoral environments, near potentially hostile countries, based on the latest intelligence. Human-centered design principles help determine the needs of experienced battle commanders. These needs form the basis of requirements and functional analysis. The system design concept con...

  16. Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma.

    Science.gov (United States)

    Machiela, Mitchell J; Hofmann, Jonathan N; Carreras-Torres, Robert; Brown, Kevin M; Johansson, Mattias; Wang, Zhaoming; Foll, Matthieu; Li, Peng; Rothman, Nathaniel; Savage, Sharon A; Gaborieau, Valerie; McKay, James D; Ye, Yuanqing; Henrion, Marc; Bruinsma, Fiona; Jordan, Susan; Severi, Gianluca; Hveem, Kristian; Vatten, Lars J; Fletcher, Tony; Koppova, Kvetoslava; Larsson, Susanna C; Wolk, Alicja; Banks, Rosamonde E; Selby, Peter J; Easton, Douglas F; Pharoah, Paul; Andreotti, Gabriella; Freeman, Laura E Beane; Koutros, Stella; Albanes, Demetrius; Mannisto, Satu; Weinstein, Stephanie; Clark, Peter E; Edwards, Todd E; Lipworth, Loren; Gapstur, Susan M; Stevens, Victoria L; Carol, Hallie; Freedman, Matthew L; Pomerantz, Mark M; Cho, Eunyoung; Kraft, Peter; Preston, Mark A; Wilson, Kathryn M; Gaziano, J Michael; Sesso, Howard S; Black, Amanda; Freedman, Neal D; Huang, Wen-Yi; Anema, John G; Kahnoski, Richard J; Lane, Brian R; Noyes, Sabrina L; Petillo, David; Colli, Leandro M; Sampson, Joshua N; Besse, Celine; Blanche, Helene; Boland, Anne; Burdette, Laurie; Prokhortchouk, Egor; Skryabin, Konstantin G; Yeager, Meredith; Mijuskovic, Mirjana; Ognjanovic, Miodrag; Foretova, Lenka; Holcatova, Ivana; Janout, Vladimir; Mates, Dana; Mukeriya, Anush; Rascu, Stefan; Zaridze, David; Bencko, Vladimir; Cybulski, Cezary; Fabianova, Eleonora; Jinga, Viorel; Lissowska, Jolanta; Lubinski, Jan; Navratilova, Marie; Rudnai, Peter; Szeszenia-Dabrowska, Neonila; Benhamou, Simone; Cancel-Tassin, Geraldine; Cussenot, Olivier; Bueno-de-Mesquita, H Bas; Canzian, Federico; Duell, Eric J; Ljungberg, Börje; Sitaram, Raviprakash T; Peters, Ulrike; White, Emily; Anderson, Garnet L; Johnson, Lisa; Luo, Juhua; Buring, Julie; Lee, I-Min; Chow, Wong-Ho; Moore, Lee E; Wood, Christopher; Eisen, Timothy; Larkin, James; Choueiri, Toni K; Lathrop, G Mark; Teh, Bin Tean; Deleuze, Jean-Francois; Wu, Xifeng; Houlston, Richard S; Brennan, Paul; Chanock, Stephen J; Scelo, Ghislaine; Purdue, Mark P

    2017-08-07

    Relative telomere length in peripheral blood leukocytes has been evaluated as a potential biomarker for renal cell carcinoma (RCC) risk in several studies, with conflicting findings. We performed an analysis of genetic variants associated with leukocyte telomere length to assess the relationship between telomere length and RCC risk using Mendelian randomization, an approach unaffected by biases from temporal variability and reverse causation that might have affected earlier investigations. Genotypes from nine telomere length-associated variants for 10 784 cases and 20 406 cancer-free controls from six genome-wide association studies (GWAS) of RCC were aggregated into a weighted genetic risk score (GRS) predictive of leukocyte telomere length. Odds ratios (ORs) relating the GRS and RCC risk were computed in individual GWAS datasets and combined by meta-analysis. Longer genetically inferred telomere length was associated with an increased risk of RCC (OR=2.07 per predicted kilobase increase, 95% confidence interval [CI]:=1.70-2.53, p0.5) with GWAS-identified RCC risk variants (rs10936599 and rs9420907) from the telomere length GRS; despite this exclusion, a statistically significant association between the GRS and RCC risk persisted (OR=1.73, 95% CI=1.36-2.21, pbody of evidence indicating some aspect of longer telomere length is important for RCC risk. Telomeres are segments of DNA at chromosome ends that maintain chromosomal stability. Our study investigated the relationship between genetic variants associated with telomere length and renal cell carcinoma risk. We found evidence suggesting individuals with inherited predisposition to longer telomere length are at increased risk of developing renal cell carcinoma. Published by Elsevier B.V.

  17. Indian studies on genetic polymorphisms and cancer risk

    Directory of Open Access Journals (Sweden)

    A Bag

    2012-01-01

    Full Text Available Genetic influences on cancer development have been extensively investigated during the last decade following publication of human genome sequence. The present review summarizes case-control studies on genetic polymorphisms and cancer risk in Indians. It is observed that the most commonly studied genes in the Indian population included members of phase I and phase II metabolic enzymes. Other than these genes, genetic polymorphisms for cell cycle and apoptosis-related factors, DNA repair enzymes, immune response elements, growth factors, folate metabolizing enzymes, vitamin/hormone receptors, etc., were investigated. Several studies also evidenced a stronger risk for combined genotypes rather than a single polymorphism. Gene-environment interaction was also found to be a determining factor for cancer development in some experiments. Data for single polymorphism and single cancer type, however, was insufficient to validate an association. It appears that much more experiments involving larger sample size, cross-tabulating genetic polymorphisms and environmental factors are required in order to identify genetic markers for different cancers in Indian populations.

  18. Environmental risk assessment of pesticides in Ethiopia

    NARCIS (Netherlands)

    Teklu, B.M.

    2016-01-01

    The current increase in application rate and usage frequency of application of pesticides in Ethiopia pose direct risks to surface water aquatic organisms and humans and cattle using surface water as a source of drinking water in rural parts of the country. A model based risk assessment as currently

  19. Gender and risk assessment in contraceptive technologies

    NARCIS (Netherlands)

    Kammen, van Jessika; Oudshoorn, Nelly

    2002-01-01

    This paper concerns a comparison of risk assessment practices of contraceptives for women and men. Our analysis shows how the evaluation of health risks of contraceptives does not simply reflect the specific effects of chemical compounds in the human body. Rather, we show how side-effects were rated

  20. A framework for combining social impact assessment and risk assessment

    Energy Technology Data Exchange (ETDEWEB)

    Mahmoudi, Hossein, E-mail: mahmoudi@uni-hohenheim.de [Department of Social Sciences in Agriculture, University of Hohenheim (Germany); Environmental Sciences Research Institute, Shahid Beheshti University, G.C. (Iran, Islamic Republic of); Renn, Ortwin [Department of Technology and Environmental Sociology (and DIALOGIK), University of Stuttgart (Germany); Vanclay, Frank [Department of Cultural Geography, Faculty of Spatial Sciences, University of Groningen, Groningen (Netherlands); Hoffmann, Volker [Department of Social Sciences in Agriculture, University of Hohenheim (Germany); Karami, Ezatollah [College of Agriculture, Shiraz University, Shiraz (Iran, Islamic Republic of)

    2013-11-15

    An increasing focus on integrative approaches is one of the current trends in impact assessment. There is potential to combine impact assessment with various other forms of assessment, such as risk assessment, to make impact assessment and the management of social risks more effective. We identify the common features of social impact assessment (SIA) and social risk assessment (SRA), and discuss the merits of a combined approach. A hybrid model combining SIA and SRA to form a new approach called, ‘risk and social impact assessment’ (RSIA) is introduced. RSIA expands the capacity of SIA to evaluate and manage the social impacts of risky projects such as nuclear energy as well as natural hazards and disasters such as droughts and floods. We outline the three stages of RSIA, namely: impact identification, impact assessment, and impact management. -- Highlights: • A hybrid model to combine SIA and SRA namely RSIA is proposed. • RSIA can provide the proper mechanism to assess social impacts of natural hazards. • RSIA can play the role of ex-post as well as ex-ante assessment. • For some complicated and sensitive cases like nuclear energy, conducting a RSIA is necessary.

  1. Identifying Common Genetic Risk Factors of Diabetic Neuropathies

    Science.gov (United States)

    Witzel, Ini-Isabée; Jelinek, Herbert F.; Khalaf, Kinda; Lee, Sungmun; Khandoker, Ahsan H.; Alsafar, Habiba

    2015-01-01

    Type 2 diabetes mellitus (T2DM) is a global public health problem of epidemic proportions, with 60–70% of affected individuals suffering from associated neurovascular complications that act on multiple organ systems. The most common and clinically significant neuropathies of T2DM include uremic neuropathy, peripheral neuropathy, and cardiac autonomic neuropathy. These conditions seriously impact an individual’s quality of life and significantly increase the risk of morbidity and mortality. Although advances in gene sequencing technologies have identified several genetic variants that may regulate the development and progression of T2DM, little is known about whether or not the variants are involved in disease progression and how these genetic variants are associated with diabetic neuropathy specifically. Significant missing heritability data and complex disease etiologies remain to be explained. This article is the first to provide a review of the genetic risk variants implicated in the diabetic neuropathies and to highlight potential commonalities. We thereby aim to contribute to the creation of a genetic-metabolic model that will help to elucidate the cause of diabetic neuropathies, evaluate a patient’s risk profile, and ultimately facilitate preventative and targeted treatment for the individual. PMID:26074879

  2. Shared Genetic Factors Influence Amygdala Volumes and Risk for Alcoholism

    Science.gov (United States)

    Dager, Alecia D; McKay, D Reese; Kent, Jack W; Curran, Joanne E; Knowles, Emma; Sprooten, Emma; Göring, Harald HH; Dyer, Thomas D; Pearlson, Godfrey D; Olvera, Rene L; Fox, Peter T; Lovallo, William R; Duggirala, Ravi; Almasy, Laura; Blangero, John; Glahn, David C

    2015-01-01

    Alcohol abuse and dependence (alcohol use disorders, AUDs) are associated with brain shrinkage. Subcortical structures including the amygdala, hippocampus, ventral striatum, dorsal striatum, and thalamus subserve reward functioning and may be particularly vulnerable to alcohol-related damage. These structures may also show pre-existing deficits impacting the development and maintenance of AUD. It remains unclear whether there are common genetic features underlying both subcortical volumes and AUD. In this study, structural brain images were acquired from 872 Mexican-American individuals from extended pedigrees. Subcortical volumes were obtained using FreeSurfer, and quantitative genetic analyses were performed in SOLAR. We hypothesized the following: (1) reduced subcortical volumes in individuals with lifetime AUD relative to unrelated controls; (2) reduced subcortical volumes in individuals with current relative to past AUD; (3) in non-AUD individuals, reduced subcortical volumes in those with a family history of AUD compared to those without; and (4) evidence for common genetic underpinnings (pleiotropy) between AUD risk and subcortical volumes. Results showed that individuals with lifetime AUD showed larger ventricular and smaller amygdala volumes compared to non-AUD individuals. For the amygdala, there were no differences in volume between current vs past AUD, and non-AUD individuals with a family history of AUD demonstrated reductions compared to those with no such family history. Finally, amygdala volume was genetically correlated with the risk for AUD. Together, these results suggest that reduced amygdala volume reflects a pre-existing difference rather than alcohol-induced neurotoxic damage. Our genetic correlation analysis provides evidence for a common genetic factor underlying both reduced amygdala volumes and AUD risk. PMID:25079289

  3. Shared genetic factors influence amygdala volumes and risk for alcoholism.

    Science.gov (United States)

    Dager, Alecia D; McKay, D Reese; Kent, Jack W; Curran, Joanne E; Knowles, Emma; Sprooten, Emma; Göring, Harald H H; Dyer, Thomas D; Pearlson, Godfrey D; Olvera, Rene L; Fox, Peter T; Lovallo, William R; Duggirala, Ravi; Almasy, Laura; Blangero, John; Glahn, David C

    2015-01-01

    Alcohol abuse and dependence (alcohol use disorders, AUDs) are associated with brain shrinkage. Subcortical structures including the amygdala, hippocampus, ventral striatum, dorsal striatum, and thalamus subserve reward functioning and may be particularly vulnerable to alcohol-related damage. These structures may also show pre-existing deficits impacting the development and maintenance of AUD. It remains unclear whether there are common genetic features underlying both subcortical volumes and AUD. In this study, structural brain images were acquired from 872 Mexican-American individuals from extended pedigrees. Subcortical volumes were obtained using FreeSurfer, and quantitative genetic analyses were performed in SOLAR. We hypothesized the following: (1) reduced subcortical volumes in individuals with lifetime AUD relative to unrelated controls; (2) reduced subcortical volumes in individuals with current relative to past AUD; (3) in non-AUD individuals, reduced subcortical volumes in those with a family history of AUD compared to those without; and (4) evidence for common genetic underpinnings (pleiotropy) between AUD risk and subcortical volumes. Results showed that individuals with lifetime AUD showed larger ventricular and smaller amygdala volumes compared to non-AUD individuals. For the amygdala, there were no differences in volume between current vs past AUD, and non-AUD individuals with a family history of AUD demonstrated reductions compared to those with no such family history. Finally, amygdala volume was genetically correlated with the risk for AUD. Together, these results suggest that reduced amygdala volume reflects a pre-existing difference rather than alcohol-induced neurotoxic damage. Our genetic correlation analysis provides evidence for a common genetic factor underlying both reduced amygdala volumes and AUD risk.

  4. Biodiversity Risk Assessment of Protected Ecosystems

    Directory of Open Access Journals (Sweden)

    Vitalija Rudzkienė

    2013-10-01

    Full Text Available Forest ecosystems are characterised by the most abundant biodiversity because there are the best conditions for existence of various species of plants, animals and various other organisms there. Generally, in the last decades a lot of attention is given to biodiversity, and scientific research draws attention to an increasing loss of biodiversity. Biodiversity measurements are needed in order to understand biodiversity changes and to control them. Measurements and assessments of biodiversity of ecosystems reveal the condition of an ecosystem of a certain territory as well as create the basis for a strategy of preserving separate species. A lot of indices for assessing biodiversity risk have been created in the last decades. Integrated indices are composed when joining indices, and one of them is the integrated biodiversity risk assessment index NABRAI (National Biodiversity Risk Assessment Index. This article analyses the principles of creating biodiversity risk indices, possible alternatives of components (variables of biodiversity resources, impact and response indices, and their suitability at the national level. Assessment and ranking methodology, adapted for assessment of biodiversity risk of local protected territories and for ranking of territories, is presented. Report data of directorates of Lithuanian national and regional parks are used for the analysis, as well as the data served as a basis to calculate integrated biodiversity risk indices of several protected territories of Lithuania.DOI: http://dx.doi.org/10.5755/j01.erem.65.3.4478

  5. Multi-locus genetic risk score predicts risk for Crohn's disease in Slovenian population

    NARCIS (Netherlands)

    Zupancic, Katarina; Skok, Kristijan; Repnik, Katja; Weersma, Rinse K.; Potocnik, Uros; Skok, Pavel

    2016-01-01

    AIM: To develop a risk model for Crohn's disease (CD) based on homogeneous population. METHODS: In our study were included 160 CD patients and 209 healthy individuals from Slovenia. The association study was performed for 112 single nucleotide polymorphisms (SNPs). We generated genetic risk scores

  6. Multi-locus genetic risk score predicts risk for Crohn's disease in Slovenian population

    NARCIS (Netherlands)

    Zupančič, Katarina; Skok, Kristijan; Repnik, Katja; Weersma, Rinse K; Potočnik, Uroš; Skok, Pavel

    2016-01-01

    AIM: To develop a risk model for Crohn's disease (CD) based on homogeneous population. METHODS: In our study were included 160 CD patients and 209 healthy individuals from Slovenia. The association study was performed for 112 single nucleotide polymorphisms (SNPs). We generated genetic risk scores (

  7. Genetic risk factors for venous thrombosis : key players or minor risk modifiers?

    NARCIS (Netherlands)

    Vossen, Carolina Yvonne

    2005-01-01

    Venous thrombosis is a common disease, which manifests itself mostly in the deep veins of the leg, with a reported incidence of 1-2 per 1000 individuals per year. Several genetic risk factors have been identified for venous thrombosis. It is, however, difficult to predict the risk of venous

  8. New Methodology for Rapid Seismic Risk Assessment

    Science.gov (United States)

    Melikyan, A. E.; Balassanian, S. Y.

    2002-05-01

    Seismic risk is growing worldwide and is, increasingly, a problem of developing countries. Along with growing urbanization future earthquakes will have more disastrous social and economic consequences. Seismic risk assessment and reduction are important goals for each country located in seismically active zone. For Armenia these goals are of primary importance because the results of studies carried out by Armenian NSSP for assessment of the losses caused by various types of disasters in Armenia had shown that earthquakes are the most disastrous hazard for Armenia. The strategy for seismic risk reduction in 1999 was adopted by the Government of Armenia as a high priority state program. The world experience demonstrates that for efficient response the rapid assessment of seismic losses is necessary. There are several state-of-the-art approaches for seismic risk assessment (Radius, Hazus, etc.). All of them required large amount of various input data, which is impossible to collect in many developing countries, in particular in Armenia. Taking into account this very serious problem existing for developing countries, as well as rapid seismic risk assessment need immediately after strong earthquake the author undertake the attempt to contribute into a new approach for rapid seismic risk assessment under the supervision of Prof. S. Balassanian. The analysis of numerous factors influencing seismic risk in Armenia shows that the following elements contribute most significantly to the possible losses: seismic hazard; density of population; vulnerability of structures. Proposed approach for rapid seismic risk assessment based on these three factors has been tested for several seismic events. These tests have shown that such approach might represent from 80 to 90 percent of real losses.

  9. Ecosystem services as assessment endpoints for ecological risk assessment.

    Science.gov (United States)

    Munns, Wayne R; Rea, Anne W; Suter, Glenn W; Martin, Lawrence; Blake-Hedges, Lynne; Crk, Tanja; Davis, Christine; Ferreira, Gina; Jordan, Steve; Mahoney, Michele; Barron, Mace G

    2016-07-01

    Ecosystem services are defined as the outputs of ecological processes that contribute to human welfare or have the potential to do so in the future. Those outputs include food and drinking water, clean air and water, and pollinated crops. The need to protect the services provided by natural systems has been recognized previously, but ecosystem services have not been formally incorporated into ecological risk assessment practice in a general way in the United States. Endpoints used conventionally in ecological risk assessment, derived directly from the state of the ecosystem (e.g., biophysical structure and processes), and endpoints based on ecosystem services serve different purposes. Conventional endpoints are ecologically important and susceptible entities and attributes that are protected under US laws and regulations. Ecosystem service endpoints are a conceptual and analytical step beyond conventional endpoints and are intended to complement conventional endpoints by linking and extending endpoints to goods and services with more obvious benefit to humans. Conventional endpoints can be related to ecosystem services even when the latter are not considered explicitly during problem formulation. To advance the use of ecosystem service endpoints in ecological risk assessment, the US Environmental Protection Agency's Risk Assessment Forum has added generic endpoints based on ecosystem services (ES-GEAE) to the original 2003 set of generic ecological assessment endpoints (GEAEs). Like conventional GEAEs, ES-GEAEs are defined by an entity and an attribute. Also like conventional GEAEs, ES-GEAEs are broadly described and will need to be made specific when applied to individual assessments. Adoption of ecosystem services as a type of assessment endpoint is intended to improve the value of risk assessment to environmental decision making, linking ecological risk to human well-being, and providing an improved means of communicating those risks. Integr Environ Assess Manag

  10. A Tutorial on Probablilistic Risk Assessement and its Role in Risk-Informed Decision Making

    Science.gov (United States)

    Dezfuli, Homayoon

    2010-01-01

    This slide presentation reviews risk assessment and its role in risk-informed decision making. It includes information on probabilistic risk assessment, typical risk management process, origins of risk matrix, performance measures, performance objectives and Bayes theorem.

  11. Genetic and environmental determinants of risk for cholangiocarcinoma in Thailand

    Institute of Scientific and Technical Information of China (English)

    Masanao; Miwa; Satoshi; Honjo; Gyokukou; You; Masakazu; Tanaka; Kazuhiko; Uchida; Petcharin; Srivatanakul; Thiravud; Khuhaprema; Watcharin; Loilome; Anchalee; Techasen; Chaisiri; Wongkham; Temduang; Limpaiboon; Puangrat; Yongvanit; Sopit; Wongkham

    2014-01-01

    Cholangiocarcinoma(CCA) is a difficult cancer to diagnose in the early stage and to treat by curative resec-tion. The incidence of CCA in the northeast of Thailand is the highest in the world. To make progress in detecting a high risk group and in the prevention and detection of CCA, we have been analyzing the risk factors for CCA. Although liver fluke infection is known to be a risk factor, there are patients who are not infected with the liver fluke and not all people infected with the liver fluke will suffer from the disease. Therefore, it is of the utmost importance to analyze the risk factors and the mechanism to prevent the disease and also to detect the disease in its early stage to save patients’ lives. Through collaboration among Thai and Japanese researchers, we analyzed the genetic and environmental determinants of risks for CCA. Also, we have been trying to develop methods to detect the disease in a non-invasive way. Without repeating findings reported in various reviews on CCA, we will first discuss the environmental and genetic determinants of the risks for CCA. Second, we will discuss the properties of CCA, including the etiological agents and the mechanism of cholangiocarcinogenesis, and finally, we will discuss future approaches to prevent and cure CCA from the standpoint of evidence-based medicine. We will discuss these points by including the data from our laboratories. We would like to emphasize the importance of the genetic data, especially whole genome approaches, to understand the properties of CCA, to find a high risk population for CCA and to develop effective preventative methods to stop the carcinogenic steps toward CCA in the near future. In addition, it is of the upmost importance to develop a non-invasive, specific and sensitive method to detect CCA in its early stage for the application of modern medical approaches to help patients with CCA.

  12. Assessing environmental impacts of genetically modified plants on non-target organisms

    NARCIS (Netherlands)

    Arpaia, Salvatore; Birch, A.N.E.; Kiss, Jozsef; Loon, van Joop J.A.; Messéan, Antoine; Nuti, Marco; Perry, Joe N.; Sweet, Jeremy B.; Tebbe, Christoph C.

    2017-01-01

    In legal frameworks worldwide, genetically modified plants (GMPs) are subjected to pre-market environmental risk assessment (ERA) with the aim of identifying potential effects on the environment. In the European Union, the EFSA Guidance Document introduces the rationale that GMPs, as well as their n

  13. Assessing environmental impacts of genetically modified plants on non-target organisms

    NARCIS (Netherlands)

    Arpaia, Salvatore; Birch, A.N.E.; Kiss, Jozsef; Loon, van Joop J.A.; Messéan, Antoine; Nuti, Marco; Perry, Joe N.; Sweet, Jeremy B.; Tebbe, Christoph C.

    2017-01-01

    In legal frameworks worldwide, genetically modified plants (GMPs) are subjected to pre-market environmental risk assessment (ERA) with the aim of identifying potential effects on the environment. In the European Union, the EFSA Guidance Document introduces the rationale that GMPs, as well as thei

  14. Modelling the genetic risk in age-related macular degeneration.

    Directory of Open Access Journals (Sweden)

    Felix Grassmann

    Full Text Available Late-stage age-related macular degeneration (AMD is a common sight-threatening disease of the central retina affecting approximately 1 in 30 Caucasians. Besides age and smoking, genetic variants from several gene loci have reproducibly been associated with this condition and likely explain a large proportion of disease. Here, we developed a genetic risk score (GRS for AMD based on 13 risk variants from eight gene loci. The model exhibited good discriminative accuracy, area-under-curve (AUC of the receiver-operating characteristic of 0.820, which was confirmed in a cross-validation approach. Noteworthy, younger AMD patients aged below 75 had a significantly higher mean GRS (1.87, 95% CI: 1.69-2.05 than patients aged 75 and above (1.45, 95% CI: 1.36-1.54. Based on five equally sized GRS intervals, we present a risk classification with a relative AMD risk of 64.0 (95% CI: 14.11-1131.96 for individuals in the highest category (GRS 3.44-5.18, 0.5% of the general population compared to subjects with the most common genetic background (GRS -0.05-1.70, 40.2% of general population. The highest GRS category identifies AMD patients with a sensitivity of 7.9% and a specificity of 99.9% when compared to the four lower categories. Modeling a general population around 85 years of age, 87.4% of individuals in the highest GRS category would be expected to develop AMD by that age. In contrast, only 2.2% of individuals in the two lowest GRS categories which represent almost 50% of the general population are expected to manifest AMD. Our findings underscore the large proportion of AMD cases explained by genetics particularly for younger AMD patients. The five-category risk classification could be useful for therapeutic stratification or for diagnostic testing purposes once preventive treatment is available.

  15. Protection goals in environmental risk assessment: a practical approach.

    Science.gov (United States)

    Garcia-Alonso, Monica; Raybould, Alan

    2014-12-01

    Policy protection goals are set up in most countries to minimise harm to the environment, humans and animals caused by human activities. Decisions on whether to approve new agricultural products, like pesticides or genetically modified (GM) crops, take into account these policy protection goals. To support decision-making, applications for approval of commercial uses of GM crops usually comprise an environmental risk assessment (ERA). These risk assessments are analytical tools, based on science, that follow a conceptual model that includes a problem formulation step where policy protection goals are considered. However, in most countries, risk assessors face major problems in that policy protection goals set in the legislation are stated in very broad terms and are too ambiguous to be directly applicable in ERAs. This means that risk assessors often have to interpret policy protection goals without clear guidance on what effects would be considered harmful. In this paper we propose a practical approach that may help risk assessors to translate policy protection goals into unambiguous (i.e., operational) protection goals and to establish relevant assessment endpoints and risk hypotheses that can be used in ERAs. Examples are provided to show how this approach can be applied to two areas of environmental concern relevant to the ERAs of GM crops.

  16. Metabolic factors and genetic risk mediate familial type 2 diabetes risk in the Framingham Heart Study

    Science.gov (United States)

    Raghavan, Sridharan; Porneala, Bianca; McKeown, Nicola; Fox, Caroline S.; Dupuis, Josée; Meigs, James B.

    2015-01-01

    Aims/hypothesis Type 2 diabetes mellitus in parents is a strong determinant of diabetes risk in their offspring. We hypothesise that offspring diabetes risk associated with parental diabetes is mediated by metabolic risk factors. Methods We studied initially non-diabetic participants of the Framingham Offspring Study. Metabolic risk was estimated using beta cell corrected insulin response (CIR), HOMA-IR or a count of metabolic syndrome components (metabolic syndrome score [MSS]). Dietary risk and physical activity were estimated using questionnaire responses. Genetic risk score (GRS) was estimated as the count of 62 type 2 diabetes risk alleles. The outcome of incident diabetes in offspring was examined across levels of parental diabetes exposure, accounting for sibling correlation and adjusting for age, sex and putative mediators. The proportion mediated was estimated by comparing regression coefficients for parental diabetes with (βadj) and without (βunadj) adjustments for CIR, HOMA-IR, MSS and GRS (percentage mediated = 1 – βadj / βunadj). Results Metabolic factors mediated 11% of offspring diabetes risk associated with parental diabetes, corresponding to a reduction in OR per diabetic parent from 2.13 to 1.96. GRS mediated 9% of risk, corresponding to a reduction in OR per diabetic parent from 2.13 to 1.99. Conclusions/interpretation Metabolic risk factors partially mediated offspring type 2 diabetes risk conferred by parental diabetes to a similar magnitude as genetic risk. However, a substantial proportion of offspring diabetes risk associated with parental diabetes remains unexplained by metabolic factors, genetic risk, diet and physical activity, suggesting that important familial influences on diabetes risk remain undiscovered. PMID:25619168

  17. Biological Based Risk Assessment for Space Exploration

    Science.gov (United States)

    Cucinotta, Francis A.

    2011-01-01

    Exposures from galactic cosmic rays (GCR) - made up of high-energy protons and high-energy and charge (HZE) nuclei, and solar particle events (SPEs) - comprised largely of low- to medium-energy protons are the primary health concern for astronauts for long-term space missions. Experimental studies have shown that HZE nuclei produce both qualitative and quantitative differences in biological effects compared to terrestrial radiation, making risk assessments for cancer and degenerative risks, such as central nervous system effects and heart disease, highly uncertain. The goal for space radiation protection at NASA is to be able to reduce the uncertainties in risk assessments for Mars exploration to be small enough to ensure acceptable levels of risks are not exceeded and to adequately assess the efficacy of mitigation measures such as shielding or biological countermeasures. We review the recent BEIR VII and UNSCEAR-2006 models of cancer risks and their uncertainties. These models are shown to have an inherent 2-fold uncertainty as defined by ratio of the 95% percent confidence level to the mean projection, even before radiation quality is considered. In order to overcome the uncertainties in these models, new approaches to risk assessment are warranted. We consider new computational biology approaches to modeling cancer risks. A basic program of research that includes stochastic descriptions of the physics and chemistry of radiation tracks and biochemistry of metabolic pathways, to emerging biological understanding of cellular and tissue modifications leading to cancer is described.

  18. Trichloroethylene risk assessment: relevance of interindividual differences

    NARCIS (Netherlands)

    Vermeulen, N.P.E.; Bladeren, P.J. van

    2001-01-01

    Interindividual variability in the disposition and effects of xenobiotics in humans and related inter-species differences should play a major role in human risk assessment. In particular for low-dose exposures to potentially carcinogenic compounds, novel tools and concepts are necessary to assess

  19. Trichloroethylene risk assessment: relevance of interindividual differences

    NARCIS (Netherlands)

    Vermeulen, N.P.E.; Bladeren, P.J. van

    2001-01-01

    Interindividual variability in the disposition and effects of xenobiotics in humans and related inter-species differences should play a major role in human risk assessment. In particular for low-dose exposures to potentially carcinogenic compounds, novel tools and concepts are necessary to assess ri

  20. Risk Assessment Study for Storage Explosive

    Directory of Open Access Journals (Sweden)

    S. S. Azhar

    2006-01-01

    Full Text Available In Malaysia, there has been rapidly increasing usage in amount of explosives due to widely expansion in quarrying and mining industries. The explosives are usually stored in the storage where the safety precaution had given high attention. As the storage of large quantity of explosive can be hazardous to workers and nearby residents in the events of accidental denotation of explosives, a risk assessment study for storage explosive (magazine had been carried out. Risk assessment study had been conducted in Kimanis Quarry Sdn. Bhd, located in Sabah. Risk assessment study had been carried out with the identification of hazards and failure scenarios and estimation of the failure frequency of occurrence. Analysis of possible consequences of failure and the effects of blast waves due to the explosion was evaluated. The risk had been estimated in term of fatalities and eardrum rupture to the workers and public. The average individual voluntary risk for fatality to the workers at the quarry is calculated to be 5.75 x 10-6 per person per year, which is much lower than the acceptable level. Eardrum rupture risk calculated to be 3.15 x 10-6 per person per year for voluntary risk. There is no involuntary risk found for fatality but for eardrum rupture it was calculated to be 6.98 x 10-8 per person per year, as given by Asian Development Bank.

  1. Common genetic polymorphisms modify the effect of smoking on absolute risk of bladder cancer.

    Science.gov (United States)

    Garcia-Closas, Montserrat; Rothman, Nathaniel; Figueroa, Jonine D; Prokunina-Olsson, Ludmila; Han, Summer S; Baris, Dalsu; Jacobs, Eric J; Malats, Nuria; De Vivo, Immaculata; Albanes, Demetrius; Purdue, Mark P; Sharma, Sapna; Fu, Yi-Ping; Kogevinas, Manolis; Wang, Zhaoming; Tang, Wei; Tardón, Adonina; Serra, Consol; Carrato, Alfredo; García-Closas, Reina; Lloreta, Josep; Johnson, Alison; Schwenn, Molly; Karagas, Margaret R; Schned, Alan; Andriole, Gerald; Grubb, Robert; Black, Amanda; Gapstur, Susan M; Thun, Michael; Diver, William Ryan; Weinstein, Stephanie J; Virtamo, Jarmo; Hunter, David J; Caporaso, Neil; Landi, Maria Teresa; Hutchinson, Amy; Burdett, Laurie; Jacobs, Kevin B; Yeager, Meredith; Fraumeni, Joseph F; Chanock, Stephen J; Silverman, Debra T; Chatterjee, Nilanjan

    2013-04-01

    Bladder cancer results from the combined effects of environmental and genetic factors, smoking being the strongest risk factor. Evaluating absolute risks resulting from the joint effects of smoking and genetic factors is critical to assess the public health relevance of genetic information. Analyses included up to 3,942 cases and 5,680 controls of European background in seven studies. We tested for multiplicative and additive interactions between smoking and 12 susceptibility loci, individually and combined as a polygenic risk score (PRS). Thirty-year absolute risks and risk differences by levels of the PRS were estimated for U.S. males aged 50 years. Six of 12 variants showed significant additive gene-environment interactions, most notably NAT2 (P = 7 × 10(-4)) and UGT1A6 (P = 8 × 10(-4)). The 30-year absolute risk of bladder cancer in U.S. males was 6.2% for all current smokers. This risk ranged from 2.9% for current smokers in the lowest quartile of the PRS to 9.9% for current smokers in the upper quartile. Risk difference estimates indicated that 8,200 cases would be prevented if elimination of smoking occurred in 100,000 men in the upper PRS quartile compared with 2,000 cases prevented by a similar effort in the lowest PRS quartile (P(additive) = 1 × 10(-4)). Thus, the potential impact of eliminating smoking on the number of bladder cancer cases prevented is larger for individuals at higher than lower genetic risk. Our findings could have implications for targeted prevention strategies. However, other smoking-related diseases, as well as practical and ethical considerations, need to be considered before any recommendations could be made. ©2012 AACR.

  2. Earthquake risk assessment for Istanbul metropolitan area

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    The impact of earthquakes in urban centers prone to disastrous earthquakes necessitates the analysis of associated risk for rational formulation of contingency plans and mitigation strategies. In urban centers, the seismic risk is best quantified and portrayed through the preparation of "Earthquake Damage and Loss Scenarios." The components of such scenarios are the assessment of the hazard, inventories and the vulnerabilities of elements at risk. For the development of the earthquake risk scenario in Istanbul, two independent approaches, one based on intensities and the second on spectral displacements, are utilized. This paper will present the important features of a comprehensive study, highlight the methodology, discuss the results and provide insights to future developments.

  3. Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?

    Science.gov (United States)

    Amiet, Claire; Gourfinkel-An, Isabelle; Laurent, Claudine; Bodeau, Nicolas; Génin, Bérengère; Leguern, Eric; Tordjman, Sylvie; Cohen, David

    2013-12-01

    Autism spectrum disorders (ASD) and epilepsy frequently occur together. Prevalence rates are variable, and have been attributed to age, gender, comorbidity, subtype of pervasive developmental disorder (PDD) and risk factors. Recent studies have suggested disparate clinical and genetic settings depending on simplex or multiplex autism. The aim of this study was to assess: 1) the prevalence of epilepsy in multiplex autism and its association with genetic and non-genetic risk factors of major effect, intellectual disability and gender; and 2) whether autism and epilepsy cosegregate within multiplex autism families. We extracted from the Autism Genetic Resource Exchange (AGRE) database (n = 3,818 children from 1,264 families) all families with relevant medical data (n = 664 children from 290 families). The sample included 478 children with ASD and 186 siblings without ASD. We analyzed the following variables: seizures, genetic and non-genetic risk factors, gender, and cognitive functioning as assessed by Raven's Colored Progressive Matrices (RCPM) and Vineland Adaptive Behavior Scales (VABS). The prevalence of epilepsy was 12.8% in cases with ASD and 2.2% in siblings without ASD (P VABS measure, the risk of epilepsy in multiplex autism was significantly associated with intellectual disability, but not with gender. Identified risk factors (genetic or non-genetic) of autism tended to be significantly associated with epilepsy (P = 0.052). When children with prematurity, pre- or perinatal insult, or cerebral palsy were excluded, a genetic risk factor was reported for 6/59 (10.2%) of children with epilepsy and 12/395 (3.0%) of children without epilepsy (P = 0.002). Finally, using a permutation test, there was significant evidence that the epilepsy phenotype co-segregated within families (P <10-4). Epilepsy in multiplex autism may define a different subgroup in terms of clinical characteristics and genetic risk.

  4. Genetic effects influencing risk for major depressive disorder in China and Europe

    DEFF Research Database (Denmark)

    Bigdeli, Tim B; Ripke, S; Peterson, Roseann E

    2017-01-01

    Major depressive disorder (MDD) is a common, complex psychiatric disorder and a leading cause of disability worldwide. Despite twin studies indicating its modest heritability (~30-40%), extensive heterogeneity and a complex genetic architecture have complicated efforts to detect associated genetic...... directions of effect, assessed the significance of polygenic risk scores and estimated the genetic correlation of MDD across ancestries. Subsequent trans-ancestry meta-analyses combined SNP-level evidence of association. Sign tests and polygenic score profiling weakly support an overlap of SNP effects...... between East Asian and European populations. We estimated the trans-ancestry genetic correlation of lifetime MDD as 0.33; female-only and recurrent MDD yielded estimates of 0.40 and 0.41, respectively. Common variants downstream of GPHN achieved genome-wide significance by Bayesian trans-ancestry meta...

  5. High risk process control system assessment methodology

    Energy Technology Data Exchange (ETDEWEB)

    Santos, Venetia [Pontificia Universidade Catolica do Rio de Janeiro (PUC-Rio), RJ (Brazil); Zamberlan, Maria Cristina [National Institute of Tehnology (INT), Rio de Janeiro, RJ (Brazil). Human Reliability and Ergonomics Research Group for the Oil, Gas and Energy Sector

    2009-07-01

    The evolution of ergonomics methodology has become necessary due to the dynamics imposed by the work environment, by the increase of the need of human cooperation and by the high interaction between various sections within a company. In the last 25 years, as of studies made in the high risk process control, we have developed a methodology to evaluate these situations that focus on the assessment of activities and human cooperation, the assessment of context, the assessment of the impact of work of other sectors in the final activity of the operator, as well as the modeling of existing risks. (author)

  6. TSCA Work Plan Chemical Risk Assessment: 1 ...

    Science.gov (United States)

    1-Bromopropane (CASRN 106-94-5): or 1-BP is a volatile organic chemical that is considered moderately persistent in the environment but does not have the potential to bioaccumulate in fish or other animals. The majority of the 1-BP production volume (~ 47%) is used as a vapor degreaser for optics electronics, plastics, and metals. 1-BP also is used as an aerosol solvent in cleaning products, as a spray fixative in arts and crafts, and as a spot cleaner in various industrial/commercial/consumer sectors. Focus of the Risk Assessment: The assessment will focus on uses of 1-BP in commercial (i.e., vapor degreasing, spray adhesives, and dry cleaning) and consumer applications (i.e., aerosol solvent cleaners and spray adhesives). Given the range of endpoints (i.e., cancer, non-cancer; the latter includes potential effects on the developing fetus), susceptible populations are expected to include adults (including pregnant women) in commercial uses and children (as bystanders) and adults of all ages (including pregnant women) for consumer uses. Thus, the assessment will focus on all humans/lifestages. EPA anticipates issuing draft risk assessments for public review and comment as they are completed. At the conclusion of the review process, if an assessment of specific uses indicates significant risk, EPA will evaluate and pursue appropriate risk reduction actions, as warranted. If an assessment indicates no significant risk, EPA will conclude its work on the a

  7. Postural risk assessment of mechanised firewood processing.

    Science.gov (United States)

    Spinelli, Raffaele; Aminti, Giovanni; De Francesco, Fabio

    2017-03-01

    The study assessed the postural risk of mechanised firewood processing with eight machines, representing the main technology solutions available on the market. Assessment was conducted with the Ovako Working posture Analysis System (OWAS) on 1000 still frames randomly extracted from videotaped work samples. The postural risk associated with firewood processing was variable and associated with technology type. Simple, manually operated new machines incurred a higher postural risk compared with semi- or fully automatic machines. In contrast, new semi-automatic and automatic machines were generally free from postural risk. In all cases, attention should be paid to postural risk that may occur during blockage resolution. The study did not cover the postural risk of firewood processing sites as a whole. The study provided useful information for selecting firewood processing machinery and for improving firewood machinery design, as part of a more articulate strategy aimed at enhancing the safety of firewood processing work sites. Practitioner Summary: The postural risk associated with mechanised firewood processing (eg cutting and splitting) depends on the type of equipment. Postural risk is highest (OWAS Action Category 2) with new in-line machines, designed for operation by a single worker. Fully automatic machines present minimum postural risk, except during blockage resolution.

  8. Quantitative Risk Assessment of Contact Sensitization

    DEFF Research Database (Denmark)

    Api, Anne Marie; Belsito, Donald; Bickers, David

    2010-01-01

    Background: Contact hypersensitivity quantitative risk assessment (QRA) for fragrance ingredients is being used to establish new international standards for all fragrance ingredients that are potential skin sensitizers. Objective: The objective was to evaluate the retrospective clinical data...... as potential sensitizers. Methods: This article reviews clinical data for three fragrance ingredients cinnamic aldehyde, citral, and isoeugenol to assess the utility of the QRA approach for fragrance ingredients. Results: This assessment suggests that had the QRA approach been available at the time standards...

  9. Safety Assessment and Countermeasures of Genetically Modified Food

    Directory of Open Access Journals (Sweden)

    2013-05-01

    Full Text Available With the rapid development of science-biotechnology, the safety of genetically modified organisms has become some of the most controversial issues in our society. This study aims to review the safety assessment and countermeasures of Genetically Modified (GM foods. Firstly, the research status and the main contents of GM foods safety assessment are discussed. What’s more, the countermeasures of GM foods safety assessment are proposed. This study tries to summarize and discuss the safety assessment of GM foods.

  10. Safety Assessment of Genetically Modified Foods

    OpenAIRE

    TAYLOR Steve L.

    2001-01-01

    The development of novel foods produced through agricultural biotechnology is a complex three-stage process: gene discovery, line selection, and product advancement to commercialization. The safety of genetically modified foods is an integral part of the overall developmental process throughout all of the stages. In the discovery stage, the safety of the gene, its source, and the gene products must be considered. If any questions arise at this stage, these questions must be answered later in ...

  11. Genetic risks and familial associations of small bowel carcinoma

    Institute of Scientific and Technical Information of China (English)

    Santosh Shenoy

    2016-01-01

    Adenocarcinoma of small intestines(SBA) is a relatively rare malignancy with poor outcomes due to delayed diagnosis.Fifty percent of patients have metastases on presentation and therefore early detection and treatment offers the best long term outcomes.Certain genetic polyposis syndromes and familial diseases are associatedwith increased risks for SBA.These include familial adenomatous polyposis(FAP),Lynch syndromes(LS),Juvenile polyposis syndrome,Peutz-Jeghers syndrome,Crohn’s disease(CD) and celiac disease.Mutations in APC gene,Mismatch repair genes,STK11 gene,and SMAD4 gene have been implicated for the genetic diseases respectively.While there are no specific inherited genetic mutations for CD,genome-wide association studies have established over 140 loci associated with CD.CpG island mutations with defects in mismatch repair genes have been identified in celiac disease.Significant diagnostic advances have occurred in the past decade and intuitively,it would seem beneficial to use these advanced modalities for surveillance of these patients.At present it is debatable and no clear data exists to support this approach except for established guidelines to diagnose duodenal polyps in FAP,and LS.Here we discuss the genetic alterations,cancer risks,signaling mechanisms and briefly touch the surveillance modalities available for these genetic and clinical syndromes.English language articles from Pub Med/Medline and Embase was searched were collected using the phrases "small-bowel adenocarcinoma,genetics,surveillance,familial adenomatous polyposis,lynch syndromes,Peutz-Jeghers syndrome,juvenile polyposis syndrome,CD and celiac disease".Figures,tables and schematic diagram to illustrate pathways are included in the review.

  12. Identification of new genetic risk factors for prostate cancer

    Institute of Scientific and Technical Information of China (English)

    Michelle Guy; Helen I.Field; Melissa C.Southey; Gianluca Severi; Jenny L.Donovan; Freddie C.Hamdy; David P.Dearnaley; Kenneth R.Muir; Charmaine Smith; Melisa Bagnato; Audrey T.Ardern-Jones; Zsofia Kote-Jarai; Amanda L.Hall; Lynne T.O'Brien; Beatrice N.Gehr-Swain; Rosemary A.Wilkinson; Angela Cox; Sarah Lewis; Paul M.Brown; Sameer G.Jhavar; Malgorzata Tymrakiewicz; Artitaya Lophatananon; Graham G.Giles; Sarah L.Bryant; The UK Genetic Prostate Cancer Study Collaborators; British Association of Urological Surgeons' Sectio; Alan Horwich; Robert A.Huddart; Vincent S.Khoo; Christopher C.Parker; Christopher J.Woodhouse; Alan Thompson; Tim Christmas; Ali Amin Al Olama; Chris Ogden; Cyril Fisher; Charles Jameson; Colin S.Cooper; Dallas R.English; John L.Hopper; David E.Neal; Douglas E Easton; Rosalind A.Eeles; Sarah K.Jugurnauth; Shani Mulholland; Daniel A.Leongamomlert; Stephen M.Edwards; Jonathan Morrison

    2009-01-01

    There is evidence that a substantial part of genetic predisposition to prostate cancer (PCa) may be due to lower penetrance genes which are found by genome-wide association studies.We have recently conducted such a study and seven new regions of the genome linked to PCa risk have been identified.Three of these loci contain candidate susceptibility genes:MSMB,LMTK2 and KLK2/3.The MSMB and KLK2/3 genes may he useful for PCa screening,and the LMTK2 gene might provide a potential therapeutic target.Together with results from other groups,there are now 23 germline genetic variants which have been reported.These results have the potential to be developed into a genetic test.However,we consider that marketing of tests to the public is premature,as PCa risk can not be evaluated fully at this stage and the appropriate screening protocols need to be developed.Follow-up validation studies,as well as studies to explore the psychological implications of genetic profile testing,will be vital prior to roll out into healthcare.

  13. Risk propensity assessment in military special operations.

    Science.gov (United States)

    Sicard, B; Jouve, E; Blin, O

    2001-10-01

    Risk taking, decision making, and stress factors are strongly associated in military operations. The authors used the Bond and Lader mood and alertness scale and a new scale, Evaluation of Risks (EVAR), to assess risk proneness in a maritime counter-terrorism exercise. EVAR items are distributed among five factors: self-control, danger seeking, energy, impulsiveness, and invincibility. In the study, 10 pilots were submitted to strenuous night flights with limited sleep deprivation. Compared with baseline data, pilots reported an increase in impulsiveness, whereas EVAR factors were consistent in a control group composed of 9 navy crew member. Correlations were observed between mood and alertness and risk factors. These results illustrate how EVAR can be used to evaluate change in risk proneness in individuals submitted to various stressors. But further studies are required to weigh stress factors and environmental conditions in risk propensity with a larger population of various age and personality traits.

  14. Benefits and risks associated with genetically modified food products

    OpenAIRE

    Marta Kramkowska; Teresa Grzelak; Krystyna Czyżewska; Ewa Mierzejewska; Renata Welc-Faleciak; Andrzej Bohatyrewicz; Aleksandra Lanocha; Rafał Celiński; Agata Bielawska-Drózd; Justyna Joniec; Marcin Kołodziej; Grzegorz Graniak; Mariusz Goniewicz; Leszek Kubiak

    2013-01-01

    Scientists employing methods of genetic engineering have developed a new group of living organisms, termed ‘modified organisms’, which found application in, among others, medicine, the pharmaceutical industry and food distribution. The introduction of transgenic products to the food market resulted in them becoming a controversial topic, with their proponents and contestants. The presented study aims to systematize objective data on the potential benefits and risks resulting from the consumpt...

  15. The relation of risk assessment and health impact assessment

    DEFF Research Database (Denmark)

    Ádám, Balázs; Gulis, Gabriel

    2013-01-01

    as a powerful tool for the evaluation of potential health consequences of planned measures. It is often discussed whether HIA is not just another term or form of risk assessment and what is their relation. Our aim is to discuss similarities and differences between the two methods so as to clarify......The level and distribution of health risks in a society is substantially influenced by measures of various policies, programmes or projects. Risk assessment can evaluate the nature, likelihood and severity of an adverse effect. Health impact assessment (HIA) provides similar function when used...... standardised scientific methods to characterise the probability and magnitude of harm caused by a hazard, preferably in a quantitative manner. In turn, HIA is a process to assess future impacts of recent proposals and is dominated by qualitative evaluation. It makes a projection for a future scenario rather...

  16. Genetic liability, prenatal health, stress and family environment: risk factors in the Harvard Adolescent Family High Risk for schizophrenia study.

    Science.gov (United States)

    Walder, Deborah J; Faraone, Stephen V; Glatt, Stephen J; Tsuang, Ming T; Seidman, Larry J

    2014-08-01

    The familial ("genetic") high-risk (FHR) paradigm enables assessment of individuals at risk for schizophrenia based on a positive family history of schizophrenia in first-degree, biological relatives. This strategy presumes genetic transmission of abnormal traits given high heritability of the illness. It is plausible, however, that adverse environmental factors are also transmitted in these families. Few studies have evaluated both biological and environmental factors within a FHR study of adolescents. We conceptualize four precursors to psychosis pathogenesis: two biological (genetic predisposition, prenatal health issues (PHIs)) and two environmental (family environment, stressful life events (SLEs)). Participants assessed between 1998 and 2007 (ages 13-25) included 40 (20F/20M) adolescents at FHR for schizophrenia (FHRs) and 55 (31F/24M) community controls. 'Genetic load' indexed number of affected family members relative to pedigree size. PHI was significantly greater among FHRs, and family cohesion and expressiveness were less (and family conflict was higher) among FHRs; however, groups did not significantly differ in SLE indices. Among FHRs, genetic liability was significantly associated with PHI and family expressiveness. Prenatal and family environmental disruptions are elevated in families with a first-degree relative with schizophrenia. Findings support our proposed 'polygenic neurodevelopmental diathesis-stress model' whereby psychosis susceptibility (and resilience) involves the independent and synergistic confluence of (temporally-sensitive) biological and environmental factors across development. Recognition of biological and social environmental influences across critical developmental periods points to key issues relevant for enhanced identification of psychosis susceptibility, facilitation of more precise models of illness risk, and development of novel prevention strategies. Copyright © 2014 Elsevier B.V. All rights reserved.

  17. [Safety assessment of foods derived from genetically modified plants].

    Science.gov (United States)

    Pöting, A; Schauzu, M

    2010-06-01

    The placing of genetically modified plants and derived food on the market falls under Regulation (EC) No. 1829/2003. According to this regulation, applicants need to perform a safety assessment according to the Guidance Document of the Scientific Panel on Genetically Modified Organisms of the European Food Safety Authority (EFSA), which is based on internationally agreed recommendations. This article gives an overview of the underlying legislation as well as the strategy and scientific criteria for the safety assessment, which should generally be based on the concept of substantial equivalence and carried out in relation to an unmodified conventional counterpart. Besides the intended genetic modification, potential unintended changes also have to be assessed with regard to potential adverse effects for the consumer. All genetically modified plants and derived food products, which have been evaluated by EFSA so far, were considered to be as safe as products derived from the respective conventional plants.

  18. Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.

    Science.gov (United States)

    Hussein, Norita; Weng, Stephen F; Kai, Joe; Kleijnen, Jos; Qureshi, Nadeem

    2015-08-12

    Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying and counselling couples at genetic risk of the conditions before pregnancy enables them to make fully informed reproductive decisions, with some of these choices not being available if genetic counselling is only offered in an antenatal setting. To assess the effectiveness of systematic preconception genetic risk assessment to improve reproductive outcomes in women and their partners who are identified as carriers of thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease in healthcare settings when compared to usual care. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Trials Registers. In addition, we searched for all relevant trials from 1970 (or the date at which the database was first available if after 1970) to date using electronic databases (MEDLINE, Embase, CINAHL, PsycINFO), clinical trial databases (National Institutes of Health, Clinical Trials Search portal of the World Health Organization, metaRegister of controlled clinical trials), and hand searching of key journals and conference abstract books from 1998 to date (European Journal of Human Genetics, Genetics in Medicine, Journal of Community Genetics). We also searched the reference lists of relevant articles, reviews and guidelines and also contacted subject experts in the field to request any unpublished or other published trials.Date of latest search of the registers: 25 June 2015.Date of latest search of all other sources: 10 December 2014. Any randomised or quasi-randomised control trials (published or unpublished) comparing reproductive outcomes of systematic preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease

  19. How does genetic risk information for Lynch syndrome translate to risk management behaviours?

    Science.gov (United States)

    Steel, Emma; Robbins, Andrew; Jenkins, Mark; Flander, Louisa; Gaff, Clara; Keogh, Louise

    2017-01-01

    There is limited research on why some individuals who have undergone predictive genetic testing for Lynch syndrome do not adhere to screening recommendations. This study aimed to explore qualitatively how Lynch syndrome non-carriers and carriers translate genetic risk information and advice to decisions about risk managment behaviours in the Australian healthcare system. Participants of the Australasian Colorectal Cancer Family Registry who had undergone predictive genetic testing for Lynch syndrome were interviewed on their risk management behaviours. Transcripts were analysed thematically using a comparative coding analysis. Thirty-three people were interviewed. Of the non-carriers (n = 16), 2 reported having apparently unnecessary colonoscopies, and 6 were unsure about what population-based colorectal cancer screening entails. Of the carriers (n = 17), 2 reported they had not had regular colonoscopies, and spoke about their discomfort with the screening process and a lack of faith in the procedure's ability to reduce their risk of developing colorectal cancer. Of the female carriers (n = 9), 2 could not recall being informed about the associated risk of gynaecological cancers. Non-carriers and female carriers of Lynch syndrome could benefit from further clarity and advice about appropriate risk management options. For those carriers who did not adhere to colonoscopy screening, a lack of faith in both genetic test results and screening were evident. It is essential that consistent advice is offered to both carriers and non-carriers of Lynch syndrome.

  20. Update earthquake risk assessment in Cairo, Egypt

    Science.gov (United States)

    Badawy, Ahmed; Korrat, Ibrahim; El-Hadidy, Mahmoud; Gaber, Hanan

    2016-12-01

    The Cairo earthquake (12 October 1992; m b = 5.8) is still and after 25 years one of the most painful events and is dug into the Egyptians memory. This is not due to the strength of the earthquake but due to the accompanied losses and damages (561 dead; 10,000 injured and 3000 families lost their homes). Nowadays, the most frequent and important question that should rise is "what if this earthquake is repeated today." In this study, we simulate the same size earthquake (12 October 1992) ground motion shaking and the consequent social-economic impacts in terms of losses and damages. Seismic hazard, earthquake catalogs, soil types, demographics, and building inventories were integrated into HAZUS-MH to produce a sound earthquake risk assessment for Cairo including economic and social losses. Generally, the earthquake risk assessment clearly indicates that "the losses and damages may be increased twice or three times" in Cairo compared to the 1992 earthquake. The earthquake risk profile reveals that five districts (Al-Sahel, El Basateen, Dar El-Salam, Gharb, and Madinat Nasr sharq) lie in high seismic risks, and three districts (Manshiyat Naser, El-Waily, and Wassat (center)) are in low seismic risk level. Moreover, the building damage estimations reflect that Gharb is the highest vulnerable district. The analysis shows that the Cairo urban area faces high risk. Deteriorating buildings and infrastructure make the city particularly vulnerable to earthquake risks. For instance, more than 90 % of the estimated buildings damages are concentrated within the most densely populated (El Basateen, Dar El-Salam, Gharb, and Madinat Nasr Gharb) districts. Moreover, about 75 % of casualties are in the same districts. Actually, an earthquake risk assessment for Cairo represents a crucial application of the HAZUS earthquake loss estimation model for risk management. Finally, for mitigation, risk reduction, and to improve the seismic performance of structures and assure life safety

  1. Update earthquake risk assessment in Cairo, Egypt

    Science.gov (United States)

    Badawy, Ahmed; Korrat, Ibrahim; El-Hadidy, Mahmoud; Gaber, Hanan

    2017-07-01

    The Cairo earthquake (12 October 1992; m b = 5.8) is still and after 25 years one of the most painful events and is dug into the Egyptians memory. This is not due to the strength of the earthquake but due to the accompanied losses and damages (561 dead; 10,000 injured and 3000 families lost their homes). Nowadays, the most frequent and important question that should rise is "what if this earthquake is repeated today." In this study, we simulate the same size earthquake (12 October 1992) ground motion shaking and the consequent social-economic impacts in terms of losses and damages. Seismic hazard, earthquake catalogs, soil types, demographics, and building inventories were integrated into HAZUS-MH to produce a sound earthquake risk assessment for Cairo including economic and social losses. Generally, the earthquake risk assessment clearly indicates that "the losses and damages may be increased twice or three times" in Cairo compared to the 1992 earthquake. The earthquake risk profile reveals that five districts (Al-Sahel, El Basateen, Dar El-Salam, Gharb, and Madinat Nasr sharq) lie in high seismic risks, and three districts (Manshiyat Naser, El-Waily, and Wassat (center)) are in low seismic risk level. Moreover, the building damage estimations reflect that Gharb is the highest vulnerable district. The analysis shows that the Cairo urban area faces high risk. Deteriorating buildings and infrastructure make the city particularly vulnerable to earthquake risks. For instance, more than 90 % of the estimated buildings damages are concentrated within the most densely populated (El Basateen, Dar El-Salam, Gharb, and Madinat Nasr Gharb) districts. Moreover, about 75 % of casualties are in the same districts. Actually, an earthquake risk assessment for Cairo represents a crucial application of the HAZUS earthquake loss estimation model for risk management. Finally, for mitigation, risk reduction, and to improve the seismic performance of structures and assure life safety

  2. Risks in hospitals. Assessment and Management

    Directory of Open Access Journals (Sweden)

    Bradea Ioana-Alexandra

    2014-12-01

    Full Text Available In a complex world, characterized by a multitude of risks, managers need to manage the risks they encounter, in an efficient way and in the shortest time possible. In the current economic crisis, the concept of hospital risk management, as the process in which is identified, analyzed, reduced, or avoided a risk that may affect the hospital, gained great importance. The Romanian health system, distinguished by: lack of transparency, poor funding, the loss of the valuable medical staff, lack of hospitals in villages and small towns, inability to engage patients due to the old and poor equipment, lack of research and problems in information privacy and cyber-security, requires an appropriate management, enabling risk managers to take decisions in order to avoid the occurrence of risks. Important for the functioning of every hospital is the perception of patients and their degree of satisfaction, regarding the quality of services, which depend largely on the quality of human resources. But what are the human resources weaknesses and risks from the patient point of view? What are the risk indicators which must be monitored to avoid risks? And also, which is the most useful method for measurement and assessment of risk?

  3. Integrating public risk perception into formal natural hazard risk assessment

    Directory of Open Access Journals (Sweden)

    Th. Plattner

    2006-01-01

    Full Text Available An urgent need to take perception into account for risk assessment has been pointed out by relevant literature, its impact in terms of risk-related behaviour by individuals is obvious. This study represents an effort to overcome the broadly discussed question of whether risk perception is quantifiable or not by proposing a still simple but applicable methodology. A novel approach is elaborated to obtain a more accurate and comprehensive quantification of risk in comparison to present formal risk evaluation practice. A consideration of relevant factors enables a explicit quantification of individual risk perception and evaluation. The model approach integrates the effective individual risk reff and a weighted mean of relevant perception affecting factors PAF. The relevant PAF cover voluntariness of risk-taking, individual reducibility of risk, knowledge and experience, endangerment, subjective damage rating and subjective recurrence frequency perception. The approach assigns an individual weight to each PAF to represent its impact magnitude. The quantification of these weights is target-group-dependent (e.g. experts, laypersons and may be effected by psychometric methods. The novel approach is subject to a plausibility check using data from an expert-workshop. A first model application is conducted by means of data of an empirical risk perception study in Western Germany to deduce PAF and weight quantification as well as to confirm and evaluate model applicbility and flexibility. Main fields of application will be a quantification of risk perception by individual persons in a formal and technical way e.g. for the purpose of risk communication issues in illustrating differing perspectives of experts and non-experts. For decision making processes this model will have to be applied with caution, since it is by definition not designed to quantify risk acceptance or risk evaluation. The approach may well explain how risk perception differs, but not

  4. USF-1 genetic polymorphisms confer a high risk of nonalcoholic fatty liver disease in Chinese population.

    Science.gov (United States)

    Wang, Ying; Wang, Bai-Fang; Tong, Jing; Chang, Bing; Wang, Bing-Yuan

    2015-01-01

    Genetic polymorphisms in upstream transcription factor 1 (USF1) were investigated for their links to increased risk of nonalcoholic fatty liver disease (NAFLD) in Chinese population. Between January 2013 and April 2014, 174 patients with NAFLD in the First Affiliated Hospital of China Medical University were selected for this study. A group of 100 healthy subjects were identified as the control group. The MALDI-TOF-MS, a mass spectrometry based technique, was used to detect USF-1 genetic polymorphisms using PCR amplified DNA products. Furthermore, Automatic Chemistry Analyzer (ACA) was used to determine the clinical indicators. Genotypes, allele frequencies and clinical indicators were measured to assess NAFLD risk in relation to the SNPs. USF-1 rs6427573 genetic polymorphisms were associated with an increased risk of NAFLD (AA vs. GG: OR = 3.16, 95% CI = 1.56-6.43, P = 0.001; GA + AA vs. GG: OR = 1.87, 95% CI = 1.13-3.09, P = 0.015; GG + AA vs. AA: OR = 2.96, 95% CI = 1.49-5.88, P = 0.001; G vs. A: OR = 2.10, 95% CI = 1.43-3.09, P 0.05). Two USF-1 genetic polymorphisms, rs6427573 and rs2516839, may present an increased risk of NAFLD.

  5. Interplay of genetic risk (CHRNA5) and environmental risk (partner smoking) on cigarette smoking reduction.

    Science.gov (United States)

    Chen, Li-Shiun; Baker, Timothy B; Piper, Megan E; Smith, Stevens S; Gu, Charles; Grucza, Richard A; Smith, George Davey; Munafo, Marcus; Bierut, Laura J

    2014-10-01

    This study tests whether the genetic predictor (CHRNA5 nicotine receptor gene variants) and an environmental risk factor (partner smoking) interact in the prediction of smoking reduction. Subjects were from a community-based, longitudinal study of women (n=1856) who smoked before pregnancy, and a randomized comparative effectiveness smoking cessation trial (n=1065). Smoking reduction was defined as the trajectory of self-reported smoking quantities over time in the observational study, and as the trajectory of alveolar CO levels in the cessation trial. In the pregnancy study, rs16969968 genotype and partner smoking status interacted such that the smoking reduction was lowest for expectant mothers with high genetic risk and partner smoking, and highest for those with high genetic risk but not partner smoking (interaction of genotype×partner smoking on smoking quantity trajectory slope β=0.071, 95%CI=0.013, 0.13, p=0.017). In the clinical trial, a similar interaction was found (interaction β=0.20, 95%CI=0.049, 0.36, p=0.010). Furthermore, these associations were moderated by pharmacotherapy such that the interactive relation of genetic and environmental factors occurred in the placebo group, but not in the active pharmacotherapy group (interaction of genotype×partner smoking×pharmacotherapy on CO trajectory slope β=-0.25, 95%CI=-0.42, -0.091, p=0.0023). The CHRNA5 genetic risk synergized the effect of partner smoking, producing an especially low likelihood of successful smoking reduction in two complementary studies. This suggests that the genetic vulnerability may be mitigated by altering environmental factors. In addition, cessation pharmacotherapy neutralizes the increase in cessation failure associated with combined genetic and environmental risks, which has possible relevance to treatment algorithms. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  6. Interplay of Genetic Risk (CHRNA5) and Environmental Risk (partner smoking) on Cigarette Smoking Reduction*

    Science.gov (United States)

    Chen, Li-Shiun; Baker, Timothy B.; Piper, Megan E.; Smith, Stevens S.; Gu, Charles; Grucza, Richard A.; Smith, George Davey; Munafo, Marcus; Bierut, Laura J.

    2014-01-01

    Background This study tests whether the genetic predictor (CHRNA5 nicotine receptor gene variants) and an environmental risk factor (partner smoking) interact in the prediction of smoking reduction. Methods Subjects were from a community-based, longitudinal study of women (N=1,856) who smoked before pregnancy, and a randomized comparative effectiveness smoking cessation trial (N=1,065). Smoking reduction was defined as the trajectory of self-reported smoking quantities over time in the observational study, and as the trajectory of alveolar CO levels in the cessation trial. Results In the pregnancy study, rs16969968 genotype and partner smoking status interacted such that the smoking reduction was lowest for expectant mothers with high genetic risk and partner smoking, and highest for those with high genetic risk but not partner smoking (interaction of genotype*partner smoking on smoking quantity trajectory slope β=0.071, 95%CI=0.013, 0.13, p=0.017). In the clinical trial, a similar interaction was found (interaction β=0.20, 95%CI=0.049, 0.36, p=0.010). Furthermore, these associations were moderated by pharmacotherapy such that the interactive relation of genetic and environmental factors occurred in the placebo group, but not in the active pharmacotherapy group (interaction of genotype*partner smoking*pharmacotherapy on CO trajectory slope β=-0.25, 95%CI=-0.42, -.091, p=0.0023). Conclusions The CHRNA5 genetic risk synergized the effect of partner smoking, producing an especially low likelihood of successful smoking reduction in two complementary studies. This suggests that the genetic vulnerability may be mitigated by altering environmental factors. In addition, cessation pharmacotherapy neutralizes the increase in cessation failure associated with combined genetic and environmental risks, which has possible relevance to treatment algorithms. PMID:25073833

  7. Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach

    Science.gov (United States)

    Versmissen, Jorie; Oosterveer, Daniëlla M; Yazdanpanah, Mojgan; Dehghan, Abbas; Hólm, Hilma; Erdman, Jeanette; Aulchenko, Yurii S; Thorleifsson, Gudmar; Schunkert, Heribert; Huijgen, Roeland; Vongpromek, Ranitha; Uitterlinden, André G; Defesche, Joep C; van Duijn, Cornelia M; Mulder, Monique; Dadd, Tony; Karlsson, Hróbjartur D; Ordovas, Jose; Kindt, Iris; Jarman, Amelia; Hofman, Albert; van Vark-van der Zee, Leonie; Blommesteijn-Touw, Adriana C; Kwekkeboom, Jaap; Liem, Anho H; van der Ouderaa, Frans J; Calandra, Sebastiano; Bertolini, Stefano; Averna, Maurizio; Langslet, Gisle; Ose, Leiv; Ros, Emilio; Almagro, Fátima; de Leeuw, Peter W; Civeira, Fernando; Masana, Luis; Pintó, Xavier; Simoons, Maarten L; Schinkel, Arend FL; Green, Martin R; Zwinderman, Aeilko H; Johnson, Keith J; Schaefer, Arne; Neil, Andrew; Witteman, Jacqueline CM; Humphries, Steve E; Kastelein, John JP; Sijbrands, Eric JG

    2015-01-01

    Mutations in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH), a disorder characterized by coronary heart disease (CHD) at young age. We aimed to apply an extreme sampling method to enhance the statistical power to identify novel genetic risk variants for CHD in individuals with FH. We selected cases and controls with an extreme contrast in CHD risk from 17 000 FH patients from the Netherlands, whose functional LDLR mutation was unequivocally established. The genome-wide association (GWA) study was performed on 249 very young FH cases with CHD and 217 old FH controls without CHD (above 65 years for males and 70 years of age for females) using the Illumina HumanHap550K chip. In the next stage, two independent samples (one from the Netherlands and one from Italy, Norway, Spain, and the United Kingdom) of FH patients were used as replication samples. In the initial GWA analysis, we identified 29 independent single nucleotide polymorphisms (SNPs) with suggestive associations with premature CHD (P<1 × 10−4). We examined the association of these SNPs with CHD risk in the replication samples. After Bonferroni correction, none of the SNPs either replicated or reached genome-wide significance after combining the discovery and replication samples. Therefore, we conclude that the genetics of CHD risk in FH is complex and even applying an ‘extreme genetics' approach we did not identify new genetic risk variants. Most likely, this method is not as effective in leveraging effect size as anticipated, and may, therefore, not lead to significant gains in statistical power. PMID:24916650

  8. COX2 genetic variation, NSAIDs, and advanced prostate cancer risk.

    Science.gov (United States)

    Cheng, I; Liu, X; Plummer, S J; Krumroy, L M; Casey, G; Witte, J S

    2007-08-20

    Collective evidence suggests that cyclooxygenase 2 (COX2) plays a role in prostate cancer risk. Cyclooxygenase 2 is the major enzyme that converts arachidonic acid to prostaglandins, which are potent mediators of inflammation. Nonsteroidal anti-inflammatory drugs (NSAIDs) inhibit the enzymatic activity of COX2 and long-term use of NSAIDs appears to modestly lower the risk of prostate cancer. We investigated whether common genetic variation in COX2 influences the risk of advanced prostate cancer. Nine single-nucleotide polymorphisms (SNPs) in COX2 were genotyped among 1012 men in our case-control study of advanced prostate cancer. Gene-environment interactions between COX2 polymorphisms and NSAID use were also evaluated. Information on NSAID use was obtained by questionnaire. Three SNPs demonstrated nominally statistically significant associations with prostate cancer risk, with the most compelling polymorphism (rs2745557) associated with a lower risk of disease (odds ratio (OR) GC vs GG=0.64; 95% confidence interval (CI): 0.49-0.84; P=0.002). We estimated through permutation analysis that a similarly strong result would occur by chance 2.7% of the time. Nonsteroidal anti-inflammatory drug use was associated with a lower risk of disease in comparison to no use (OR=0.67; 95% CI: 0.52-0.87). No significant statistical interaction between NSAID use and rs2745557 was observed (P=0.12). Our findings suggest that variation in COX2 is associated with prostate cancer risk.

  9. Assessing the Environmental Risks of Nanomaterials

    DEFF Research Database (Denmark)

    Grieger, Khara Deanne; Hansen, Steffen Foss; Baun, Anders

    decisionmakers better decide on which risk assessment/analysis framework may be best suited for the specific risk decision at hand. Among other results, we find that while many of the assessed frameworks have their advantages along with limitations, most may require potentially lengthy decision-making processes...... of uncertainty, degree of precaution, inclusion of quantitative or qualitative data, inclusion of life-cycle perspective, iterative and/or adaptive, ensuring timely decision making, and degree of transparency. This analysis can ultimately assist scientists, government agencies, organizations, and other......Assessing the environmental risks of engineered nanomaterials (NM) is currently an intensely contested subject among scientists, organizations, governments, and policymakers. The shear number, variety, and market penetration of NM in consumer goods and other applications, including environmental...

  10. Safety Factors in Pesticide Risk Assessment

    DEFF Research Database (Denmark)

    Elmegaard, N.; Jagers op Akkerhuis, G. A. J. M.

    Foreword It has become common practice to protect the environment from hazardous chemicals by use of risk assessment to establish environmental concentration at which only limited damage to the ecosystem can be expected. The methods and tools applied in the risk assessment need constant evaluation...... to many species in real ecosystems · extrapolating from acute to chronic or long term effects. The project was co-funded by the Environmental Protection Agency and The National Environmental Research Institute Summary In this report two factors are studied which have implications for the size of safety...... factors used in pesticide risk assessment: the variability in species sensitivities, and the relationship between acute LC50's and chronic NOEC's....

  11. Risk factors for and assessment of constipation.

    Science.gov (United States)

    Chapman, Sherree; Hungerford, Catherine

    2015-04-01

    Constipation commonly occurs in older people, particularly in hospital or residential care settings, and leads to decreased quality of life and increased healthcare costs. Despite its frequency, however, nurses often overlook the condition. One possible reason for this may be the lack of appropriate tools or scales for nurses to assess risk factors for developing constipation. This article identifies, from the academic literature, 14 risk factors for developing constipation in older people. These factors are then considered in light of four common constipation assessment charts. The article concludes by arguing the need for more comprehensive assessment tools to, firstly, identify risk factors; and, secondly, support the implementation of appropriate preventative strategies that will enable better health outcomes for older people.

  12. Assessment of the Genetic Diversity in Forest Tree Populations Using Molecular Markers

    Directory of Open Access Journals (Sweden)

    Ilga Porth

    2014-04-01

    Full Text Available Molecular markers have proven to be invaluable tools for assessing plants’ genetic resources by improving our understanding with regards to the distribution and the extent of genetic variation within and among species. Recently developed marker technologies allow the uncovering of the extent of the genetic variation in an unprecedented way through increased coverage of the genome. Markers have diverse applications in plant sciences, but certain marker types, due to their inherent characteristics, have also shown their limitations. A combination of diverse marker types is usually recommended to provide an accurate assessment of the extent of intra- and inter-population genetic diversity of naturally distributed plant species on which proper conservation directives for species that are at risk of decline can be issued. Here, specifically, natural populations of forest trees are reviewed by summarizing published reports in terms of the status of genetic variation in the pure species. In general, for outbred forest tree species, the genetic diversity within populations is larger than among populations of the same species, indicative of a negligible local spatial structure. Additionally, as is the case for plants in general, the diversity at the phenotypic level is also much larger than at the marker level, as selectively neutral markers are commonly used to capture the extent of genetic variation. However, more and more, nucleotide diversity within candidate genes underlying adaptive traits are studied for signatures of selection at single sites. This adaptive genetic diversity constitutes important potential for future forest management and conservation purposes.

  13. Concepts of modern risk assessment and management.

    Science.gov (United States)

    Corbin, S B

    1994-01-01

    An emerging and increasingly complex array of environmental health concerns face dental practitioners in both the private and public sectors. These concerns are challenging and possibly threatening the traditionally inviolable dentist-patient relationship. Regulatory bodies, health risk experts, attorneys, and enthusiastic media are inserting themselves into the process. Essential assets for "successful" dental practitioners include enhanced expertise in basic science and technology, including the area of risk assessment, and development of broadened perspectives and skills for communicating with patients and the public.

  14. Assessing patients' risk of febrile neutropenia: is there a correlation between physician-assessed risk and model-predicted risk?

    Science.gov (United States)

    Lyman, Gary H; Dale, David C; Legg, Jason C; Abella, Esteban; Morrow, Phuong Khanh; Whittaker, Sadie; Crawford, Jeffrey

    2015-08-01

    This study evaluated the correlation between the risk of febrile neutropenia (FN) estimated by physicians and the risk of severe neutropenia or FN predicted by a validated multivariate model in patients with nonmyeloid malignancies receiving chemotherapy. Before patient enrollment, physician and site characteristics were recorded, and physicians self-reported the FN risk at which they would typically consider granulocyte colony-stimulating factor (G-CSF) primary prophylaxis (FN risk intervention threshold). For each patient, physicians electronically recorded their estimated FN risk, orders for G-CSF primary prophylaxis (yes/no), and patient characteristics for model predictions. Correlations between physician-assessed FN risk and model-predicted risk (primary endpoints) and between physician-assessed FN risk and G-CSF orders were calculated. Overall, 124 community-based oncologists registered; 944 patients initiating chemotherapy with intermediate FN risk enrolled. Median physician-assessed FN risk over all chemotherapy cycles was 20.0%, and median model-predicted risk was 17.9%; the correlation was 0.249 (95% CI, 0.179-0.316). The correlation between physician-assessed FN risk and subsequent orders for G-CSF primary prophylaxis (n = 634) was 0.313 (95% CI, 0.135-0.472). Among patients with a physician-assessed FN risk ≥ 20%, 14% did not receive G-CSF orders. G-CSF was not ordered for 16% of patients at or above their physician's self-reported FN risk intervention threshold (median, 20.0%) and was ordered for 21% below the threshold. Physician-assessed FN risk and model-predicted risk correlated weakly; however, there was moderate correlation between physician-assessed FN risk and orders for G-CSF primary prophylaxis. Further research and education on FN risk factors and appropriate G-CSF use are needed.

  15. [Patient safety in antibiotics administration: Risk assessment].

    Science.gov (United States)

    Maqueda Palau, M; Pérez Juan, E

    To determine the level of risk in the preparation and administration of antibiotics frequently used in the Intensive Care Unit using a risk matrix. A study was conducted using situation analysis and literature review of databases, protocols and good practice guidelines on intravenous therapy, drugs, and their administration routes. The most used antibiotics in the ICU registered in the ENVIN-HELICS program from 1 April to 30 June 2015 were selected. In this period, 257 patients received antimicrobial treatment and 26 antibiotics were evaluated. Variables studied: A risk assessment of each antibiotic using the scale Risk Assessment Tool, of the National Patient Safety Agency, as well as pH, osmolarity, type of catheter recommended for administration, and compatibility and incompatibility with other antibiotics studied. Almost two-thirds (65.3%) of antibiotics had more than 3 risk factors (represented by a yellow stripe), with the remaining 34.7% of antibiotics having between 0 and 2 risk factors (represented by a green stripe). There were no antibiotics with 6 or more risk factors (represented by a red stripe). Most drugs needed reconstitution, additional dilution, and the use of part of the vial to administer the prescribed dose. More than half of the antibiotics studied had a moderate risk level; thus measures should be adopted in order to reduce it. The risk matrix is a useful tool for the assessment and detection of weaknesses associated with the preparation and administration of intravenous antibiotics. Copyright © 2016 SECA. Publicado por Elsevier España, S.L.U. All rights reserved.

  16. Genetic susceptibility loci, pesticide exposure and prostate cancer risk.

    Directory of Open Access Journals (Sweden)

    Stella Koutros

    Full Text Available Uncovering SNP (single nucleotide polymorphisms-environment interactions can generate new hypotheses about the function of poorly characterized genetic variants and environmental factors, like pesticides. We evaluated SNP-environment interactions between 30 confirmed prostate cancer susceptibility loci and 45 pesticides and prostate cancer risk in 776 cases and 1,444 controls in the Agricultural Health Study. We used unconditional logistic regression to estimate odds ratios (ORs and 95% confidence intervals (CIs. Multiplicative SNP-pesticide interactions were calculated using a likelihood ratio test. After correction for multiple tests using the False Discovery Rate method, two interactions remained noteworthy. Among men carrying two T alleles at rs2710647 in EH domain binding protein 1 (EHBP1 SNP, the risk of prostate cancer in those with high malathion use was 3.43 times those with no use (95% CI: 1.44-8.15 (P-interaction= 0.003. Among men carrying two A alleles at rs7679673 in TET2, the risk of prostate cancer associated with high aldrin use was 3.67 times those with no use (95% CI: 1.43, 9.41 (P-interaction= 0.006. In contrast, associations were null for other genotypes. Although additional studies are needed and the exact mechanisms are unknown, this study suggests known genetic susceptibility loci may modify the risk between pesticide use and prostate cancer.

  17. The structure of genetic and environmental risk factors for fears and phobias.

    Science.gov (United States)

    Loken, E K; Hettema, J M; Aggen, S H; Kendler, K S

    2014-08-01

    Although prior genetic studies of interview-assessed fears and phobias have shown that genetic factors predispose individuals to fears and phobias, they have been restricted to the DSM-III to DSM-IV aggregated subtypes of phobias rather than to individual fearful and phobic stimuli. We examined the lifetime history of fears and/or phobias in response to 21 individual phobic stimuli in 4067 personally interviewed twins from same-sex pairs from the Virginia Adult Twin Study of Psychiatric and Substance Abuse Disorders (VATSPSUD). We performed multivariate statistical analyses using Mx and Mplus. The best-fitting model for the 21 phobic stimuli included four genetic factors (agora-social-acrophobia, animal phobia, blood-injection-illness phobia and claustrophobia) and three environmental factors (agora-social-hospital phobia, animal phobia, and situational phobia). This study provides the first view of the architecture of genetic and environmental risk factors for phobic disorders and their subtypes. The genetic factors of the phobias support the DSM-IV and DSM-5 constructs of animal and blood-injection-injury phobias but do not support the separation of agoraphobia from social phobia. The results also do not show a coherent genetic factor for the DSM-IV and DSM-5 situational phobia. Finally, the patterns of co-morbidity across individual fears and phobias produced by genetic and environmental influences differ appreciably.

  18. [Benefit-risk assessment of vaccination strategies].

    Science.gov (United States)

    Hanslik, Thomas; Boëlle, Pierre Yves

    2007-04-01

    This article summarises the various stages of the risk/benefit assessment of vaccination strategies. Establishing the awaited effectiveness of a vaccination strategy supposes to have an epidemiologic description of the disease to be prevented. The effectiveness of the vaccine strategy will be thus expressed in numbers of cases, hospitalizations or deaths avoided. The effectiveness can be direct, expressed as the reduction of the incidence of the infectious disease in the vaccinated subjects compared to unvaccinated subjects. It can also be indirect, the unvaccinated persons being protected by the suspension in circulation of the pathogenic agent, consecutive to the implementation of the vaccination campaign. The risks of vaccination related to the adverse effects detected during the clinical trials preceding marketing are well quantified, but other risks can occur after marketing: e.g., serious and unexpected adverse effects detected by vaccinovigilance systems, or risk of increase in the age of cases if the vaccination coverage is insufficient. The medico-economic evaluation forms a part of the risks/benefit assessment, by positioning the vaccine strategy comparatively with other interventions for health. Epidemiologic and vaccinovigilance informations must be updated very regularly, which underlines the need for having an operational and reliable real time monitoring system to accompany the vaccination strategies. Lastly, in the context of uncertainty which often accompanies the risks/benefit assessments, it is important that an adapted communication towards the public and the doctors is planned.

  19. Evidence That Transition from Health to Psychotic Disorder Can Be Traced to Semi-Ubiquitous Environmental Effects Operating against Background Genetic Risk

    NARCIS (Netherlands)

    van Nierop, Martine; Janssens, Mayke; Bruggeman, Richard; Cahn, Wiepke; de Haan, Lieuwe; Kahn, Rene S.; Meijer, Carin J.; Myin-Germeys, Inez; van Os, Jim; Wiersma, Durk

    2013-01-01

    Background: In order to assess the importance of environmental and genetic risk on transition from health to psychotic disorder, a prospective study of individuals at average (n=462) and high genetic risk (n=810) was conducted. Method: A three-year cohort study examined the rate of transition to psy

  20. Predictive Value of Cardiovascular Risk Factors for Risk Assessment in Cohort of Shiraz Heart Study

    Directory of Open Access Journals (Sweden)

    MJ ZibaeeNezhad

    2010-03-01

    Full Text Available Background: Risk assessment for fast growing burden of cardiovascular diseases is very important and dif- ficult. As a response to this challenge, in particular, genetic risk factors which potentially modify risk, we conducted a survey of primary data registry of Shiraz Heart Study on integration and application of family history data in prevention of cardiovascular disorders.Method: This study is a longitudinal cohort project to be extended from subpopulations of different job groups to the community.Results: Parental family history of MI, diabetes mellitus (DM, hyperlipidemia (HPL, hypertension (HTN was reported more frequently among females than males. Histories of MI, DM, HPL, and HTN in both parents were respectively positive in 2.6%, 2%, 4.6%, and 7.9 % of the participants. Odd ratios (OR for risk of MI from family history of MI were 2.7; risk of DM from family history of DM 4.5; risk of HPL from family history of HPL 2.04; and risk of HTN from family history HTN 4.7. Also, family history of MI modifies risk of HPL (OR=1.7, P<0.0001; and family history of DM modifies risk of HPL (OR=2.04, P<0.0001.Conclusion: Our primary result shows potent application of family history data in risk assessment of cardiovascular outcome. In particular, HTN appears as a silent and leading risk modifier. In regard to the course of continuing Shiraz Heart Study integration of family history of risk factors crucial in public health we suggest to adopt a network of electronic health records from the “Health House” to the “Heart House”.

  1. Assessment of health risks of policies

    Energy Technology Data Exchange (ETDEWEB)

    Ádám, Balázs, E-mail: badam@cmss.sdu.dk [Unit for Health Promotion Research, Faculty of Health Sciences, University of Southern Denmark, Niels Bohrs Vej 9, DK-6700 Esbjerg (Denmark); Department of Preventive Medicine, Faculty of Public Health, University of Debrecen, P.O. Box 9, H-4012 Debrecen (Hungary); Molnár, Ágnes, E-mail: MolnarAg@smh.ca [Department of Preventive Medicine, Faculty of Public Health, University of Debrecen, P.O. Box 9, H-4012 Debrecen (Hungary); Centre for Research on Inner City Health, Keenan Research Centre, Li Ka Shing Knowledge Institute, St Michael' s Hospital, Victoria 209, Rm. 3-26.22, M5B 1C6 Toronto, Ontario (Canada); Ádány, Róza, E-mail: adany.roza@sph.unideb.hu [Department of Preventive Medicine, Faculty of Public Health, University of Debrecen, P.O. Box 9, H-4012 Debrecen (Hungary); Bianchi, Fabrizio, E-mail: Fabriepi@ifc.cnr.it [Unit of Environmental Epidemiology, Institute of Clinical Physiology, National Council of Research, Moruzzi 1, 56124 Pisa (Italy); Bitenc, Katarina, E-mail: katarina.bitenc@ivz-rs.si [National Institute of Public Health, Trubarjeva 2, SI-1000 Ljubljana (Slovenia); Chereches, Razvan, E-mail: razvan.m.chereches@gmail.com [Faculty of Political, Administrative and Communication Sciences, Babes-Bolyai University, Strada Mihail Kogalniceanu 1, 3400 Cluj (Romania); Cori, Liliana, E-mail: liliana.cori@ifc.cnr.it [Unit of Environmental Epidemiology, Institute of Clinical Physiology, National Council of Research, Moruzzi 1, 56124 Pisa (Italy); Fehr, Rainer, E-mail: rainer.fehr@uni-bielefeld.de [NRW Centre for Health, Westerfeldstr. 35-37, 33611 Bielefeld (Germany); Kobza, Joanna, E-mail: koga1@poczta.onet.pl [Public Health Department, Silesian Medical University, 18 Medykow Street, 40-752 Katowice (Poland); Kollarova, Jana, E-mail: janakollarova@yahoo.com [Department of Health Promotion, Regional Public Health Authority, Ipelska 1, 04011 Kosice (Slovakia); and others

    2014-09-15

    The assessment of health risks of policies is an inevitable, although challenging prerequisite for the inclusion of health considerations in political decision making. The aim of our project was to develop a so far missing methodological guide for the assessment of the complex impact structure of policies. The guide was developed in a consensual way based on experiences gathered during the assessment of specific national policies selected by the partners of an EU project. Methodological considerations were discussed and summarized in workshops and pilot tested on the EU Health Strategy for finalization. The combined tool, which includes a textual guidance and a checklist, follows the top-down approach, that is, it guides the analysis of causal chains from the policy through related health determinants and risk factors to health outcomes. The tool discusses the most important practical issues of assessment by impact level. It emphasises the transparent identification and prioritisation of factors, the consideration of the feasibility of exposure and outcome assessment with special focus on quantification. The developed guide provides useful methodological instructions for the comprehensive assessment of health risks of policies that can be effectively used in the health impact assessment of policy proposals. - Highlights: • Methodological guide for the assessment of health risks of policies is introduced. • The tool is developed based on the experiences from several case studies. • The combined tool consists of a textual guidance and a checklist. • The top-down approach is followed through the levels of the full impact chain. • The guide provides assistance for the health impact assessment of policy proposals.

  2. Caries risk assessment in young adults

    DEFF Research Database (Denmark)

    Petersson, Gunnel Hänsel; Twetman, Svante

    2015-01-01

    BACKGROUND: To validate baseline caries risk classifications according to the Cariogram model with the actual caries development over a 3-year period in a group of young adults living in Sweden. METHODS: The study group consisted of 1,295 19-year-old patients that completed a comprehensive clinical...... baseline examination, including radiographs and salivary tests. An individual caries risk profile was computed and the patient was placed in one of five risk categories. After 3 years, 982 patients (75.8%) were re-examined and caries increment for each patient was calculated. The outcome was expressed...... as sensitivity, specificity and predictive values and compared with a risk assessment scheme used in Public Dental Service. RESULTS: The drop-outs displayed more risk factors and a significantly higher caries burden at baseline compared with those that remained in the project (p 

  3. Concepts in ecological risk assessment. Professional paper

    Energy Technology Data Exchange (ETDEWEB)

    Johnston, R.K.; Seligman, P.F.

    1991-05-01

    Assessing the risk of impact to natural ecosystems from xenobiotic compounds requires an accurate characterization of the threatened ecosystem, direct measures or estimates of environmental exposure, and a comprehensive evaluation of the biological effects from actual and potential contamination. Field and laboratory methods have been developed to obtain direct measures of environmental health. These methods have been implemented in monitoring programs to assess and verify the ecological risks of contamination from past events, such as hazardous waste disposal sites, as well as future scenarios, such as the environmental consequences from the use of biocides in antifouling bottom paints for ships.

  4. Recording pressure ulcer risk assessment and incidence.

    Science.gov (United States)

    Plaskitt, Anne; Heywood, Nicola; Arrowsmith, Michaela

    2015-07-15

    This article reports on the introduction of an innovative computer-based system developed to record and report pressure ulcer risk and incidence at an acute NHS trust. The system was introduced to ensure that all patients have an early pressure ulcer risk assessment, which prompts staff to initiate appropriate management if a pressure ulcer is detected, thereby preventing further patient harm. Initial findings suggest that this electronic process has helped to improve the timeliness and accuracy of data on pressure ulcer risk and incidence. In addition, it has resulted in a reduced number of reported hospital-acquired pressure ulcers.

  5. Genetic variants in CETP increase risk of intracerebral hemorrhage

    Science.gov (United States)

    Falcone, Guido J.; Phuah, Chia‐Ling; Radmanesh, Farid; Brouwers, H. Bart; Battey, Thomas W. K.; Biffi, Alessandro; Peloso, Gina M.; Liu, Dajiang J.; Ayres, Alison M.; Goldstein, Joshua N.; Viswanathan, Anand; Greenberg, Steven M.; Selim, Magdy; Meschia, James F.; Brown, Devin L.; Worrall, Bradford B.; Silliman, Scott L.; Tirschwell, David L.; Flaherty, Matthew L.; Kraft, Peter; Jagiella, Jeremiasz M.; Schmidt, Helena; Hansen, Björn M.; Jimenez‐Conde, Jordi; Giralt‐Steinhauer, Eva; Elosua, Roberto; Cuadrado‐Godia, Elisa; Soriano, Carolina; van Nieuwenhuizen, Koen M.; Klijn, Catharina J. M.; Rannikmae, Kristiina; Samarasekera, Neshika; Salman, Rustam Al‐Shahi; Sudlow, Catherine L.; Deary, Ian J.; Morotti, Andrea; Pezzini, Alessandro; Pera, Joanna; Urbanik, Andrzej; Pichler, Alexander; Enzinger, Christian; Norrving, Bo; Montaner, Joan; Fernandez‐Cadenas, Israel; Delgado, Pilar; Roquer, Jaume; Lindgren, Arne; Slowik, Agnieszka; Schmidt, Reinhold; Kidwell, Chelsea S.; Kittner, Steven J.; Waddy, Salina P.; Langefeld, Carl D.; Abecasis, Goncalo; Willer, Cristen J.; Kathiresan, Sekar; Woo, Daniel; Rosand, Jonathan

    2016-01-01

    Objective In observational epidemiologic studies, higher plasma high‐density lipoprotein cholesterol (HDL‐C) has been associated with increased risk of intracerebral hemorrhage (ICH). DNA sequence variants that decrease cholesteryl ester transfer protein (CETP) gene activity increase plasma HDL‐C; as such, medicines that inhibit CETP and raise HDL‐C are in clinical development. Here, we test the hypothesis that CETP DNA sequence variants associated with higher HDL‐C also increase risk for ICH. Methods We performed 2 candidate‐gene analyses of CETP. First, we tested individual CETP variants in a discovery cohort of 1,149 ICH cases and 1,238 controls from 3 studies, followed by replication in 1,625 cases and 1,845 controls from 5 studies. Second, we constructed a genetic risk score comprised of 7 independent variants at the CETP locus and tested this score for association with HDL‐C as well as ICH risk. Results Twelve variants within CETP demonstrated nominal association with ICH, with the strongest association at the rs173539 locus (odds ratio [OR] = 1.25, standard error [SE] = 0.06, p = 6.0 × 10−4) with no heterogeneity across studies (I 2 = 0%). This association was replicated in patients of European ancestry (p = 0.03). A genetic score of CETP variants found to increase HDL‐C by ∼2.85mg/dl in the Global Lipids Genetics Consortium was strongly associated with ICH risk (OR = 1.86, SE = 0.13, p = 1.39 × 10−6). Interpretation Genetic variants in CETP associated with increased HDL‐C raise the risk of ICH. Given ongoing therapeutic development in CETP inhibition and other HDL‐raising strategies, further exploration of potential adverse cerebrovascular outcomes may be warranted. Ann Neurol 2016;80:730–740 PMID:27717122

  6. Application of geostatistics to risk assessment.

    Science.gov (United States)

    Thayer, William C; Griffith, Daniel A; Goodrum, Philip E; Diamond, Gary L; Hassett, James M

    2003-10-01

    Geostatistics offers two fundamental contributions to environmental contaminant exposure assessment: (1) a group of methods to quantitatively describe the spatial distribution of a pollutant and (2) the ability to improve estimates of the exposure point concentration by exploiting the geospatial information present in the data. The second contribution is particularly valuable when exposure estimates must be derived from small data sets, which is often the case in environmental risk assessment. This article addresses two topics related to the use of geostatistics in human and ecological risk assessments performed at hazardous waste sites: (1) the importance of assessing model assumptions when using geostatistics and (2) the use of geostatistics to improve estimates of the exposure point concentration (EPC) in the limited data scenario. The latter topic is approached here by comparing design-based estimators that are familiar to environmental risk assessors (e.g., Land's method) with geostatistics, a model-based estimator. In this report, we summarize the basics of spatial weighting of sample data, kriging, and geostatistical simulation. We then explore the two topics identified above in a case study, using soil lead concentration data from a Superfund site (a skeet and trap range). We also describe several areas where research is needed to advance the use of geostatistics in environmental risk assessment.

  7. Clinical practice of risk assessment of sexual violence

    OpenAIRE

    Judge, Joseph Gerard

    2012-01-01

    Background: Risk assessment of sexual violence involves evidence based evaluation of the risks posed by sexual offenders. It informs risk management; the provision of treatment that reduces the risk of future sexual violence. Previous research has focused on assessment of the predictive accuracy of different risk assessment tools, as well as the identification of risk factors that are associated with recidivism. In contrast, the clinical practice of risk assessment is a research a...

  8. Analysis of existing risk assessments, and list of suggestions

    CERN Document Server

    Heimsch, Laura

    2016-01-01

    The scope of this project was to analyse risk assessments made at CERN and extracting some crucial information about the different methodologies used, profiles of people who make the risk assessments, and gathering information of whether the risk matrix was used and if the acceptable level of risk was defined. Second step of the project was to trigger discussion inside HSE about risk assessment by suggesting a risk matrix and a risk assessment template.

  9. Microbiological risk assessment for personal care products.

    Science.gov (United States)

    Stewart, S E; Parker, M D; Amézquita, A; Pitt, T L

    2016-12-01

    Regulatory decisions regarding microbiological safety of cosmetics and personal care products are primarily hazard-based, where the presence of a potential pathogen determines decision-making. This contrasts with the Food industry where it is a commonplace to use a risk-based approach for ensuring microbiological safety. A risk-based approach allows consideration of the degree of exposure to assess unacceptable health risks. As there can be a number of advantages in using a risk-based approach to safety, this study explores the Codex Alimentarius (Codex) four-step Microbiological Risk Assessment (MRA) framework frequently used in the Food industry and examines how it can be applied to the safety assessment of personal care products. The hazard identification and hazard characterization steps (one and two) of the Codex MRA framework consider the main microorganisms of concern. These are addressed by reviewing the current industry guidelines for objectionable organisms and analysing reports of contaminated products notified by government agencies over a recent 5-year period, together with examples of reported outbreaks. Data related to estimation of exposure (step three) are discussed, and examples of possible calculations and references are included. The fourth step, performed by the risk assessor (risk characterization), is specific to each assessment and brings together the information from the first three steps to assess the risk. Although there are very few documented uses of the MRA approach for personal care products, this study illustrates that it is a practicable and sound approach for producing products that are safe by design. It can be helpful in the context of designing products and processes going to market and with setting of microbiological specifications. Additionally, it can be applied reactively to facilitate decision-making when contaminated products are released on to the marketplace. Currently, the knowledge available may only allow a

  10. Health effects of risk-assessment categories

    Energy Technology Data Exchange (ETDEWEB)

    Kramer, C.F.; Rybicka, K.; Knutson, A.; Morris, S.C.

    1983-10-01

    Environmental and occupational health effects associated with exposures to various chemicals are a subject of increasing concern. One recently developed methodology for assessing the health impacts of various chemical compounds involves the classification of similar chemicals into risk-assessment categories (RACs). This report reviews documented human health effects for a broad range of pollutants, classified by RACs. It complements other studies that have estimated human health effects by RAC based on analysis and extrapolation of data from animal research.

  11. Flood risk assessment and associated uncertainty

    Directory of Open Access Journals (Sweden)

    H. Apel

    2004-01-01

    Full Text Available Flood disaster mitigation strategies should be based on a comprehensive assessment of the flood risk combined with a thorough investigation of the uncertainties associated with the risk assessment procedure. Within the 'German Research Network of Natural Disasters' (DFNK the working group 'Flood Risk Analysis' investigated the flood process chain from precipitation, runoff generation and concentration in the catchment, flood routing in the river network, possible failure of flood protection measures, inundation to economic damage. The working group represented each of these processes by deterministic, spatially distributed models at different scales. While these models provide the necessary understanding of the flood process chain, they are not suitable for risk and uncertainty analyses due to their complex nature and high CPU-time demand. We have therefore developed a stochastic flood risk model consisting of simplified model components associated with the components of the process chain. We parameterised these model components based on the results of the complex deterministic models and used them for the risk and uncertainty analysis in a Monte Carlo framework. The Monte Carlo framework is hierarchically structured in two layers representing two different sources of uncertainty, aleatory uncertainty (due to natural and anthropogenic variability and epistemic uncertainty (due to incomplete knowledge of the system. The model allows us to calculate probabilities of occurrence for events of different magnitudes along with the expected economic damage in a target area in the first layer of the Monte Carlo framework, i.e. to assess the economic risks, and to derive uncertainty bounds associated with these risks in the second layer. It is also possible to identify the contributions of individual sources of uncertainty to the overall uncertainty. It could be shown that the uncertainty caused by epistemic sources significantly alters the results

  12. Benefits and risks associated with genetically modified food products

    Directory of Open Access Journals (Sweden)

    Marta Kramkowska

    2013-09-01

    Full Text Available Scientists employing methods of genetic engineering have developed a new group of living organisms, termed ‘modified organisms’, which found application in, among others, medicine, the pharmaceutical industry and food distribution. The introduction of transgenic products to the food market resulted in them becoming a controversial topic, with their proponents and contestants. The presented study aims to systematize objective data on the potential benefits and risks resulting from the consumption of transgenic food. Genetic modifications of plants and animals are justified by the potential for improvement of the food situation worldwide, an increase in yield crops, an increase in the nutritional value of food, and the development of pharmaceutical preparations of proven clinical significance. In the opinions of critics, however, transgenic food may unfavourably affect the health of consumers. Therefore, particular attention was devoted to the short- and long-lasting undesirable effects, such as alimentary allergies, synthesis of toxic agents or resistance to antibiotics. Examples arguing for the justified character of genetic modifications and cases proving that their use can be dangerous are innumerable. In view of the presented facts, however, complex studies are indispensable which, in a reliable way, evaluate effects linked to the consumption of food produced with the application of genetic engineering techniques. Whether one backs up or negates transgenic products, the choice between traditional and non-conventional food remains to be decided exclusively by the consumers.

  13. Benefits and risks associated with genetically modified food products.

    Science.gov (United States)

    Kramkowska, Marta; Grzelak, Teresa; Czyżewska, Krystyna

    2013-01-01

    Scientists employing methods of genetic engineering have developed a new group of living organisms, termed 'modified organisms', which found application in, among others, medicine, the pharmaceutical industry and food distribution. The introduction of transgenic products to the food market resulted in them becoming a controversial topic, with their proponents and contestants. The presented study aims to systematize objective data on the potential benefits and risks resulting from the consumption of transgenic food. Genetic modifications of plants and animals are justified by the potential for improvement of the food situation worldwide, an increase in yield crops, an increase in the nutritional value of food, and the development of pharmaceutical preparations of proven clinical significance. In the opinions of critics, however, transgenic food may unfavourably affect the health of consumers. Therefore, particular attention was devoted to the short- and long-lasting undesirable effects, such as alimentary allergies, synthesis of toxic agents or resistance to antibiotics. Examples arguing for the justified character of genetic modifications and cases proving that their use can be dangerous are innumerable. In view of the presented facts, however, complex studies are indispensable which, in a reliable way, evaluate effects linked to the consumption of food produced with the application of genetic engineering techniques. Whether one backs up or negates transgenic products, the choice between traditional and non-conventional food remains to be decided exclusively by the consumers.

  14. [The application of genetic risk score in genetic studies of complex human diseases].

    Science.gov (United States)

    Dayan, Niu; Weili, Yan

    2015-12-01

    Complex diseases such as cardiovascular disease, type 2 diabetes, essential hypertension, asthma, obesity and cancer have spread across the globe and become the predominant cause of death. There are growing concerns over the role of genetic susceptibility in pathogenesis of complex diseases. However, the related susceptibility genes and sequence variations are still unknown. To elucidate the genetic basis of complex diseases, researchers have identified a large number of genetic variants associated with complex diseases through genome-wide association studies (GWAS) and candidate gene studies recently. The identification of these causal and/or associated variants promotes the development of approaches for complex diseases prediction and prevention. Genetic risk score (GRS), an emerging method for exploring correlation between single nucleotide polymorphisms (SNPs) and clinical phenotypes of complex diseases, integrates weak effects of multiple SNPs and dramatically enhances predictability of complex diseases by gene polymorphisms. This method has been applied successfully in genetic studies of many complex diseases. Here we focus on the introduction of the computational methods and evaluation criteria of GRS, enumerate a series of achievements through GRS application, discuss some limitations during application, and finally prospect the future of GRS.

  15. Assessing the Genetics Content in the Next Generation Science Standards.

    Science.gov (United States)

    Lontok, Katherine S; Zhang, Hubert; Dougherty, Michael J

    2015-01-01

    Science standards have a long history in the United States and currently form the backbone of efforts to improve primary and secondary education in science, technology, engineering, and math (STEM). Although there has been much political controversy over the influence of standards on teacher autonomy and student performance, little light has been shed on how well standards cover science content. We assessed the coverage of genetics content in the Next Generation Science Standards (NGSS) using a consensus list of American Society of Human Genetics (ASHG) core concepts. We also compared the NGSS against state science standards. Our goals were to assess the potential of the new standards to support genetic literacy and to determine if they improve the coverage of genetics concepts relative to state standards. We found that expert reviewers cannot identify ASHG core concepts within the new standards with high reliability, suggesting that the scope of content addressed by the standards may be inconsistently interpreted. Given results that indicate that the disciplinary core ideas (DCIs) included in the NGSS documents produced by Achieve, Inc. clarify the content covered by the standards statements themselves, we recommend that the NGSS standards statements always be viewed alongside their supporting disciplinary core ideas. In addition, gaps exist in the coverage of essential genetics concepts, most worryingly concepts dealing with patterns of inheritance, both Mendelian and complex. Finally, state standards vary widely in their coverage of genetics concepts when compared with the NGSS. On average, however, the NGSS support genetic literacy better than extant state standards.

  16. [Assessment of allergenicity of genetically modified food crops].

    Science.gov (United States)

    Schauzu, M; Pöting, A; Rubin, D; Lampen, A

    2012-03-01

    The placing on the European Union's market of genetically modified crops requires authorization by the European Commission which is based on the proof that the derived foods are as safe as their conventional counterparts. The assessment of potential allergenicity is part of the necessary investigations recommended in the updated Guidance Document of the Scientific Panel on Genetically Modified Organisms (GMO) of the European Food Safety Authority (EFSA), which is based on internationally agreed recommendations. All genetically modified crops which so far have been authorized in the European Union were evaluated by the EFSA GMO Panel which considered it unlikely that their overall allergenicity has been altered.

  17. Risk assessment and management logistics chains

    Directory of Open Access Journals (Sweden)

    Vladimir Vikulov

    2014-03-01

    Full Text Available Background: In the context of economic globalization and increasing complexity of economic relations enterprises need methods and techniques to improve and sustain their position on the global market. Integration processes offer business new opportunities, but at the same time present new challenges for the management, including the key objectives of the risk management. Method: On the basis of analysis tools known from the pertinent literature (Supply Chain Management and Supply Chain Risk Management methods, methods of probability theory, methods of risk management, methods of statistics the authors of this paper proposed their own risk assessment method and the method of management of logistics chains. The proposed tool is a specific hybrid of solutions known from the literature. Results: The presented method has been successfully used within the frames of economic-mathematical model of industrial enterprises. Indicators of supply chain risks, including risks caused by supplier are considered in this paper. Authors formed a method of optimizing the level of supply chain risk in the integration with suppliers and customers. Conclusion: Every organization, which starting the process of integration with supplier and customers, needs to use tools, methodologies and techniques for identification of "weak links" in the supply chain. The proposed method allows to fix risk origin places in various links of the supply chain and to identify "weak links" of a logistic chain that may occur in the future. The method is a useful tool for managing not only risks and risk situations, but also to improve the efficiency of current assets management by providing the ability to optimize the level of risk in the current assets management of the industrial enterprise.

  18. Handling Interdependencies in Climate Change Risk Assessment

    Directory of Open Access Journals (Sweden)

    Richard J. Dawson

    2015-12-01

    Full Text Available Typically, a climate change risk assessment focuses on individual sectors or hazards. However, interdependencies between climate risks manifest themselves via functional, physical, geographical, economic, policy and social mechanisms. These can occur over a range of spatial or temporal scales and with different strengths of coupling. Three case studies are used to demonstrate how interdependencies can significantly alter the nature and magnitude of risk, and, consequently, investment priorities for adaptation. The three examples explore interdependencies that arise from (1 climate loading dependence; (2 mediation of two climate impacts by physical processes operating over large spatial extents; and, (3 multiple risks that are influenced by shared climatic and socio-economic drivers. Drawing upon learning from these case studies, and other work, a framework for the analysis and consideration of interdependencies in climate change risk assessment has been developed. This is an iterative learning loop that involves defining the system, scoping interaction mechanisms, applying appropriate modelling tools, identifying vulnerabilities and opportunities, and assessing the performance of adaptation interventions.

  19. Ecosystem services in risk assessment and management. ...

    Science.gov (United States)

    The ecosystem services (ES) concept holds much promise for environmental decision making. Even so, the concept has yet to gain full traction in the decisions and policies of environmental agencies in the United States, Europe, and elsewhere. Here we examine the opportunities for and implications of including ES in risk assessments and the risk management decisions that they inform. We assert that use of ES will: 1) lead to more comprehensive environmental protection; 2) help to articulate the benefits of environmental decisions, policies, and actions; 3) better inform the derivation of environmental quality standards; 4) enable integration of human health and ecological risk assessment; and 5) facilitate horizontal integration of policies, regulations, and programs. We provide the technical basis and supporting rationale for each assertion, relying on examples taken from experiences in the United States and European Union. Specific recommendations are offered for use of ES in risk assessment and risk management, and issues and challenges to advancing use of ES are described along with some of the science needed to improve the value of the ES concept to environmental protection. This paper is one of 4 papers generated from the 2014 Pellston Workshop “Ecosystem Services, Environmental Stressors and Decision Making,” organized jointly by the Society of Environmental Toxicology and Chemistry and the Ecological Society of America. The main workshop objective was

  20. Risk assessment for SAGD well blowouts

    Energy Technology Data Exchange (ETDEWEB)

    Worth, D.; Alhanati, F.; Lastiwka, M. [C-FER Technologies, Edmonton, AB (Canada); Crepin, S. [Petrocedeno, Caracas (Venezuela)

    2008-10-15

    This paper discussed a steam assisted gravity drainage (SAGD) pilot project currently being conducted in Venezuela's Orinoco Belt. A risk assessment was conducted as part of the pilot program in order to evaluate the use of single barrier completions in conjunction with a blowout response plan. The study considered 3 options: (1) an isolated double barrier completion with a downhole safety valve (DHSV) in the production tubing string and a packer in the production casing annulus; (2) a partially isolated completion with no DHSV and a packer in the production casing annulus; and (3) an open single barrier completion with no additional downhole barriers. A reservoir model was used to assess the blowout flowing potential of SAGD well pairs. The probability of a blowout was estimated using fault tree analysis techniques. Risk was determined for various blowout scenarios, including blowouts during normal and workover operations, as well as blowouts through various flow paths. Total risk for each completion scenario was also determined at 3 different time periods within the production life of the well pair. The possible consequences of a blowout were assessed using quantitative consequence models. Results of the study showed that environmental and economic risks were much higher for the open completion technique. Higher risks were also associated with the earlier life of the completion strings. 20 refs., 3 tabs., 19 figs.

  1. Automating defence generation for risk assessment

    NARCIS (Netherlands)

    Gadyatskaya, Olga

    2016-01-01

    Efficient risk assessment requires automation of its most tedious tasks: identification of vulnerabilities, attacks that can exploit these vulnerabilities, and countermeasures that can mitigate the attacks. E.g., the attack tree generation by policy invalidation approach looks at systematic automati

  2. Soil Erosion Risk Assessment and Modelling

    Science.gov (United States)

    Fister, Wolfgang; Kuhn, Nikolaus J.; Heckrath, Goswin

    2013-04-01

    Soil erosion is a phenomenon with relevance for many research topics in the geosciences. Consequently, PhD students with many different backgrounds are exposed to soil erosion related questions during their research. These students require a compact, but detailed introduction to erosion processes, the risks associated with erosion, but also tools to assess and study erosion related questions ranging from a simple risk assessment to effects of climate change on erosion-related effects on geochemistry on various scales. The PhD course on Soil Erosion Risk Assessment and Modelling offered by the University of Aarhus and conducted jointly with the University of Basel is aimed at graduate students with degrees in the geosciences and a PhD research topic with a link to soil erosion. The course offers a unique introduction to erosion processes, conventional risk assessment and field-truthing of results. This is achieved by combing lectures, mapping, erosion experiments, and GIS-based erosion modelling. A particular mark of the course design is the direct link between the results of each part of the course activities. This ensures the achievement of a holistic understanding of erosion in the environment as a key learning outcome.

  3. Dermal absorption and toxicological risk assessment

    NARCIS (Netherlands)

    Buist, H.

    2016-01-01

    Absorption of toxic substances via the skin is an important phenomenon in the assessment of the risk of exposure to these substances. People are exposed to a variety of substances and products via the skin, either directly or indirectly, while at work, at home or in public space. Pesticides, organic

  4. Risk assessment as an argumentation game

    NARCIS (Netherlands)

    Prakken, Henry; Ionita, Dan; Wieringa, Roel; Leite, J.; Son, T.C.; Torrini, P.; Van Der Torre, L.; Woltran, S.

    2013-01-01

    This paper explores the idea that IT security risk assessment can be formalized as an argumentation game in which assessors argue about how the system can be attacked by a threat agent and defended by the assessors. A system architecture plus assumptions about the environment is specified as an ASPI

  5. Methodology for qualitative urban flooding risk assessment.

    Science.gov (United States)

    Leitão, João P; Almeida, Maria do Céu; Simões, Nuno E; Martins, André

    2013-01-01

    Pluvial or surface flooding can cause significant damage and disruption as it often affects highly urbanised areas. Therefore it is essential to accurately identify consequences and assess the risks associated with such phenomena. The aim of this study is to present the results and investigate the applicability of a qualitative flood risk assessment methodology in urban areas. This methodology benefits from recent developments in urban flood modelling, such as the dual-drainage modelling concept, namely one-dimensional automatic overland flow network delineation tools (e.g. AOFD) and 1D/1D models incorporating both surface and sewer drainage systems. To assess flood risk, the consequences can be estimated using hydraulic model results, such as water velocities and water depth results; the likelihood was estimated based on the return period of historical rainfall events. To test the methodology two rainfall events with return periods of 350 and 2 years observed in Alcântara (Lisbon, Portugal) were used and three consequence dimensions were considered: affected public transportation services, affected properties and pedestrian safety. The most affected areas in terms of flooding were easily identified; the presented methodology was shown to be easy to implement and effective to assess flooding risk in urban areas, despite the common difficulties in obtaining data.

  6. Dermal absorption and toxicological risk assessment

    NARCIS (Netherlands)

    Buist, H.

    2016-01-01

    Absorption of toxic substances via the skin is an important phenomenon in the assessment of the risk of exposure to these substances. People are exposed to a variety of substances and products via the skin, either directly or indirectly, while at work, at home or in public space. Pesticides, organic

  7. Incorporating Agency Into Climate Change Risk Assessments

    Energy Technology Data Exchange (ETDEWEB)

    Jones, R.N. [CSIRO Atmospheric Research, Aspendale, Victoria, 3195 (Australia)

    2004-11-01

    Human agency has been viewed as a problem for climate change assessments because of its contribution to uncertainty. In this editorial, I outline the advantages of agency in managing climate change risks, describing how those advantages can be placed within a probabilistic framework.

  8. Health Risk Assessment for Organotins in Textiles

    NARCIS (Netherlands)

    Janssen PJCM; Veen MP van; Speijers GJA; CSR; LBM

    2000-01-01

    In January 1998 RIVM was asked to carry out a preliminary risk assessment on organic tin compounds (organotins) in textiles. Measurements carried out by the Dutch Health Protection Inspectorate had shown these potentially toxic compounds to be present in several consumer products, including items of

  9. New risk assessment tools in the Netherlands

    NARCIS (Netherlands)

    Kraker, H. de; Douwes, M.

    2012-01-01

    In this paper an introduction to and description of the risk assessment tools that are freely available for companies in The Netherlands is given. It is explained in what way the tools can and should be used and how the level I checklist for physical load and the level II instruments are related. Th

  10. Economic impact assessment in pest risk analysis

    NARCIS (Netherlands)

    Soliman, T.A.A.; Mourits, M.C.M.; Oude Lansink, A.G.J.M.; Werf, van der W.

    2010-01-01

    According to international treaties, phytosanitary measures against introduction and spread of invasive plant pests must be justified by a science-based pest risk analysis (PRA). Part of the PRA consists of an assessment of potential economic consequences. This paper evaluates the main available tec

  11. Simulation modeling for microbial risk assessment.

    Science.gov (United States)

    Cassin, M H; Paoli, G M; Lammerding, A M

    1998-11-01

    Quantitative microbial risk assessment implies an estimation of the probability and impact of adverse health outcomes due to microbial hazards. In the case of food safety, the probability of human illness is a complex function of the variability of many parameters that influence the microbial environment, from the production to the consumption of a food. The analytical integration required to estimate the probability of foodborne illness is intractable in all but the simplest of models. Monte Carlo simulation is an alternative to computing analytical solutions. In some cases, a risk assessment may be commissioned to serve a larger purpose than simply the estimation of risk. A Monte Carlo simulation can provide insights into complex processes that are invaluable, and otherwise unavailable, to those charged with the task of risk management. Using examples from a farm-to-fork model of the fate of Escherichia coli O157:H7 in ground beef hamburgers, this paper describes specifically how such goals as research prioritization, risk-based characterization of control points, and risk-based comparison of intervention strategies can be objectively achieved using Monte Carlo simulation.

  12. Assessment of the safety of foods derived from genetically modified (GM) crops

    DEFF Research Database (Denmark)

    Konig, A.; Cockburn, A.; Crewel, R. W. R.

    2004-01-01

    modifications. First, the paper reviews test methods developed for the risk assessment of chemicals, including food additives and pesticides, discussing which of these methods are suitable for the assessment of recombinant proteins and whole foods. Second, the paper presents a systematic approach to combine......This paper provides guidance on how to assess the safety of foods derived from genetically modified crops (GM crops); it summarises conclusions and recommendations of Working Group I of the ENTRANSFOOD project. The paper provides an approach for adapting the test strategy to the characteristics...... of the modified crop and the introduced trait, and assessing potential unintended effects from the genetic modification. The proposed approach to safety assessment starts with the comparison of the new GM crop with a traditional counterpart that is generally accepted as safe based on a history of human food use...

  13. Housing conditions in calves welfare risk assessment

    Directory of Open Access Journals (Sweden)

    Relić Renata R.

    2010-01-01

    Full Text Available This paper shows results of calf welfare risk assessment at intensive breeding farms. Assessment has been conducted on the basis of housing conditions which can have negative influence on welfare of cattle, especially in calf category considering their needs. According to analysis results very good housing conditions were confirmed in open shed rearing stall (C and closed type rearing stall without feeding yard (A, whilst in closed rearing stall with feeding yard (B housing conditions were estimated as acceptable. Based on collected data about housing conditions, we have estimated that the least risk for calf welfare is at C farm, slightly higher at A farm and the highest at B farm. Data about housing conditions and analysis of potential welfare risk factors show possible causes for already present health and other problems with animals, which also can reappear in future. However for that reason, applying described methods can increase rearing conditions and increase production at cattle farms.

  14. Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic Risk

    Science.gov (United States)

    Fischer, Annegret; Ellinghaus, David; Nutsua, Marcel; Hofmann, Sylvia; Montgomery, Courtney G.; Iannuzzi, Michael C.; Rybicki, Benjamin A.; Petrek, Martin; Mrazek, Frantisek; Pabst, Stefan; Grohé, Christian; Grunewald, Johan; Ronninger, Marcus; Eklund, Anders; Padyukov, Leonid; Mihailovic-Vucinic, Violeta; Jovanovic, Dragana; Sterclova, Martina; Homolka, Jiri; Nöthen, Markus M.; Herms, Stefan; Gieger, Christian; Strauch, Konstantin; Winkelmann, Juliane; Boehm, Bernhard O.; Brand, Stephan; Büning, Carsten; Schürmann, Manfred; Ellinghaus, Eva; Baurecht, Hansjörg; Lieb, Wolfgang; Nebel, Almut; Müller-Quernheim, Joachim; Franke, Andre

    2015-01-01

    Rationale: Genetic variation plays a significant role in the etiology of sarcoidosis. However, only a small fraction of its heritability has been explained so far. Objectives: To define further genetic risk loci for sarcoidosis, we used the Immunochip for a candidate gene association study of immune-associated loci. Methods: Altogether the study population comprised over 19,000 individuals. In a two-stage design, 1,726 German sarcoidosis cases and 5,482 control subjects were genotyped for 128,705 single-nucleotide polymorphisms using the Illumina Immunochip for the screening step. The remaining 3,955 cases, 7,514 control subjects, and 684 parents of affected offspring were used for validation and replication of 44 candidate and two established risk single-nucleotide polymorphisms. Measurements and Main Results: Four novel susceptibility loci were identified with genome-wide significance in the European case-control populations, located on chromosomes 12q24.12 (rs653178; ATXN2/SH2B3), 5q33.3 (rs4921492; IL12B), 4q24 (rs223498; MANBA/NFKB1), and 2q33.2 (rs6748088; FAM117B). We further defined three independent association signals in the HLA region with genome-wide significance, peaking in the BTNL2 promoter region (rs5007259), at HLA-B (rs4143332/HLA-B*0801) and at HLA-DPB1 (rs9277542), and found another novel independent signal near IL23R (rs12069782) on chromosome 1p31.3. Conclusions: Functional predictions and protein network analyses suggest a prominent role of the drug-targetable IL23/Th17 signaling pathway in the genetic etiology of sarcoidosis. Our findings reveal a substantial genetic overlap of sarcoidosis with diverse immune-mediated inflammatory disorders, which could be of relevance for the clinical application of modern therapeutics PMID:26051272

  15. Impact of Genetic Testing and Family Health History Based Risk Counseling on Behavior Change and Cognitive Precursors for Type 2 Diabetes.

    Science.gov (United States)

    Wu, R Ryanne; Myers, Rachel A; Hauser, Elizabeth R; Vorderstrasse, Allison; Cho, Alex; Ginsburg, Geoffrey S; Orlando, Lori A

    2017-02-01

    Family health history (FHH) in the context of risk assessment has been shown to positively impact risk perception and behavior change. The added value of genetic risk testing is less certain. The aim of this study was to determine the impact of Type 2 Diabetes (T2D) FHH and genetic risk counseling on behavior and its cognitive precursors. Subjects were non-diabetic patients randomized to counseling that included FHH +/- T2D genetic testing. Measurements included weight, BMI, fasting glucose at baseline and 12 months and behavioral and cognitive precursor (T2D risk perception and control over disease development) surveys at baseline, 3, and 12 months. 391 subjects enrolled of which 312 completed the study. Behavioral and clinical outcomes did not differ across FHH or genetic risk but cognitive precursors did. Higher FHH risk was associated with a stronger perceived T2D risk (pKendall < 0.001) and with a perception of "serious" risk (pKendall < 0.001). Genetic risk did not influence risk perception, but was correlated with an increase in perception of "serious" risk for moderate (pKendall = 0.04) and average FHH risk subjects (pKendall = 0.01), though not for the high FHH risk group. Perceived control over T2D risk was high and not affected by FHH or genetic risk. FHH appears to have a strong impact on cognitive precursors of behavior change, suggesting it could be leveraged to enhance risk counseling, particularly when lifestyle change is desirable. Genetic risk was able to alter perceptions about the seriousness of T2D risk in those with moderate and average FHH risk, suggesting that FHH could be used to selectively identify individuals who may benefit from genetic risk testing.

  16. Fragility fracture: recent developments in risk assessment.

    Science.gov (United States)

    Aspray, Terry J

    2015-02-01

    More than half of older women who sustain a fragility fracture do not have osteoporosis by World Health Organization (WHO) bone mineral density (BMD) criteria; and, while BMD has been used to assess fracture risk for over 30 years, a range of other skeletal and nonskeletal clinical risk factors (CRFs) for fracture have been recognized. More than 30 assessment tools using CRFs have been developed, some predicting fracture risk and others low BMD alone. Recent systematic reviews have reported that many tools have not been validated against fracture incidence, and that the complexity of tools and the number of CRFs included do not ensure best performance with poor assessment of (internal or comparative) validity. Internationally, FRAX® is the most commonly recommended tool, in addition to QFracture in the UK, The Canadian Association of Radiologists and Osteoporosis Canada (CAROC) tool in Canada and Garvan in Australia. All tools estimate standard 10-year risk of major osteoporotic and 10-year risk of hip fracture: FRAX® is able to estimate fracture risk either with or without BMD, but CAROC and Garvan both require BMD and QFracture does not. The best evidence for the utility of these tools is in case finding but there may be future prospects for the use of 10-year fracture risk as a common currency with reference to the benefits of treatment, whether pharmacological or lifestyle. The use of this metric is important in supporting health economic analyses. However, further calibration studies will be needed to prove that the tools are robust and that their estimates can be used in supporting treatment decisions, independent of BMD.

  17. Practice Bulletin No. 179 Summary: Breast Cancer Risk Assessment and Screening in Average-Risk Women.

    Science.gov (United States)

    2017-07-01

    Breast cancer is the most commonly diagnosed cancer in women in the United States and the second leading cause of cancer death in American women (1). Regular screening mammography starting at age 40 years reduces breast cancer mortality in average-risk women (2). Screening, however, also exposes women to harm through false-positive test results and overdiagnosis of biologically indolent lesions. Differences in balancing benefits and harms have led to differences among major guidelines about what age to start, what age to stop, and how frequently to recommend mammography screening in average-risk women (2-4).Breast cancer risk assessment is very important for identifying women who may benefit from more intensive breast cancer surveillance; however, there is no standardized approach to office-based breast cancer risk assessment in the United States. This can lead to missed opportunities to identify women at high risk of breast cancer and may result in applying average-risk screening recommendations to high-risk women. Risk assessment and identification of women at high risk allow for referral to health care providers with expertise in cancer genetics counseling and testing for breast cancer-related germline mutations (eg, BRCA), patient counseling about risk-reduction options, and cascade testing to identify family members who also may be at increased risk.The purpose of this Practice Bulletin is to discuss breast cancer risk assessment, review breast cancer screening guidelines in average-risk women, and outline some of the controversies surrounding breast cancer screening. It will present recommendations for using a framework of shared decision making to assist women in balancing their personal values regarding benefits and harms of screening at various ages and intervals to make personal screening choices from within a range of reasonable options. Recommendations for women at elevated risk and discussion of new technologies, such as tomosynthesis, are beyond the

  18. Practice Bulletin Number 179: Breast Cancer Risk Assessment and Screening in Average-Risk Women.

    Science.gov (United States)

    2017-07-01

    Breast cancer is the most commonly diagnosed cancer in women in the United States and the second leading cause of cancer death in American women (1). Regular screening mammography starting at age 40 years reduces breast cancer mortality in average-risk women (2). Screening, however, also exposes women to harm through false-positive test results and overdiagnosis of biologically indolent lesions. Differences in balancing benefits and harms have led to differences among major guidelines about what age to start, what age to stop, and how frequently to recommend mammography screening in average-risk women (2-4).Breast cancer risk assessment is very important for identifying women who may benefit from more intensive breast cancer surveillance; however, there is no standardized approach to office-based breast cancer risk assessment in the United States. This can lead to missed opportunities to identify women at high risk of breast cancer and may result in applying average-risk screening recommendations to high-risk women. Risk assessment and identification of women at high risk allow for referral to health care providers with expertise in cancer genetics counseling and testing for breast cancer-related germline mutations (eg, BRCA), patient counseling about risk-reduction options, and cascade testing to identify family members who also may be at increased risk.The purpose of this Practice Bulletin is to discuss breast cancer risk assessment, review breast cancer screening guidelines in average-risk women, and outline some of the controversies surrounding breast cancer screening. It will present recommendations for using a framework of shared decision making to assist women in balancing their personal values regarding benefits and harms of screening at various ages and intervals to make personal screening choices from within a range of reasonable options. Recommendations for women at elevated risk and discussion of new technologies, such as tomosynthesis, are beyond the

  19. Model based risk assessment - the CORAS framework

    Energy Technology Data Exchange (ETDEWEB)

    Gran, Bjoern Axel; Fredriksen, Rune; Thunem, Atoosa P-J.

    2004-04-15

    Traditional risk analysis and assessment is based on failure-oriented models of the system. In contrast to this, model-based risk assessment (MBRA) utilizes success-oriented models describing all intended system aspects, including functional, operational and organizational aspects of the target. The target models are then used as input sources for complementary risk analysis and assessment techniques, as well as a basis for the documentation of the assessment results. The EU-funded CORAS project developed a tool-supported methodology for the application of MBRA in security-critical systems. The methodology has been tested with successful outcome through a series of seven trial within the telemedicine and ecommerce areas. The CORAS project in general and the CORAS application of MBRA in particular have contributed positively to the visibility of model-based risk assessment and thus to the disclosure of several potentials for further exploitation of various aspects within this important research field. In that connection, the CORAS methodology's possibilities for further improvement towards utilization in more complex architectures and also in other application domains such as the nuclear field can be addressed. The latter calls for adapting the framework to address nuclear standards such as IEC 60880 and IEC 61513. For this development we recommend applying a trial driven approach within the nuclear field. The tool supported approach for combining risk analysis and system development also fits well with the HRP proposal for developing an Integrated Design Environment (IDE) providing efficient methods and tools to support control room systems design. (Author)

  20. Benefit-Risk Assessment in Drug Development

    DEFF Research Database (Denmark)

    Sarac, Sinan

    This thesis covers the development, testing and use of an eight-step structured method for data-driven benefit-risk assessment. The aim of this thesis was to create a tailored method for the assessment of clinical data. The focus has been on three major aspects: (i) A simple preliminary method....... In total, four pilot studies and internal workshops were conducted. The method was therefore developed in an iterative fashion. The method involves eight successive steps: 1) establishment of the decision context, 2) identification of benefit and risk criteria, 3) weighting, 4) scoring, 5) evaluation...... and supported by a qualitative framework with built-in quantitative measures. However, at the same time the method is transparent in the sense that all assumptions made in the various steps of the assessment are clearly expressed all the way to the final decision. This is important both to avoid that unreported...

  1. Behavioral toxicology, risk assessment, and chlorinated hydrocarbons

    Energy Technology Data Exchange (ETDEWEB)

    Evangelista de Duffard, A.M.; Duffard, R. [Laboratorio de Toxicologia Experimental, Santa Fe (Argentina)

    1996-04-01

    Behavioral end points are being used with greater frequency in neurotoxicology to detect and characterize the adverse effects of chemicals on the nervous system. Behavioral measures are particularly important for neurotoxicity risk assessment since many known neurotoxicants do not result in neuropathology. The chlorinated hydrocarbon class consists of a wide variety of chemicals including polychlorinated biphenyls, clioquinol, trichloroethylene, hexachlorophene, organochlorine insecticides (DDT, dicofol, chlordecone, dieldrin, and lindane), and phenoxyherbicides. Each of these chemicals has effects on motor, sensory, or cognitive function that are detectable using functional measures such as behavior. Furthermore, there is evidence that if exposure occurs during critical periods of development, many of the chlorinated hydrocarbons are developmental neurotoxicants. Developmental neurotoxicity is frequently expressed as alterations in motor function or cognitive abilities or charges in the ontogeny of sensorimotor reflexes. Neurotoxicity risk assessment should include assessments of the full range of possible neurotoxicological effects, including both structural and functional indicators of neurotoxicity. 121 refs., 1 tab.

  2. Levels and occupational health risk assessment of trace metals in ...

    African Journals Online (AJOL)

    Levels and occupational health risk assessment of trace metals in soils from ... African Journal of Environmental Science and Technology ... The trace metal levels were subjected to risk assessment model to estimate toxic risks due to ...

  3. Seismic Risk Assessment for the Kyrgyz Republic

    Science.gov (United States)

    Pittore, Massimiliano; Sousa, Luis; Grant, Damian; Fleming, Kevin; Parolai, Stefano; Fourniadis, Yannis; Free, Matthew; Moldobekov, Bolot; Takeuchi, Ko

    2017-04-01

    The Kyrgyz Republic is one of the most socially and economically dynamic countries in Central Asia, and one of the most endangered by earthquake hazard in the region. In order to support the government of the Kyrgyz Republic in the development of a country-level Disaster Risk Reduction strategy, a comprehensive seismic risk study has been developed with the support of the World Bank. As part of this project, state-of-the-art hazard, exposure and vulnerability models have been developed and combined into the assessment of direct physical and economic risk on residential, educational and transportation infrastructure. The seismic hazard has been modelled with three different approaches, in order to provide a comprehensive overview of the possible consequences. A probabilistic seismic hazard assessment (PSHA) approach has been used to quantitatively evaluate the distribution of expected ground shaking intensity, as constrained by the compiled earthquake catalogue and associated seismic source model. A set of specific seismic scenarios based on events generated from known fault systems have been also considered, in order to provide insight on the expected consequences in case of strong events in proximity of densely inhabited areas. Furthermore, long-span catalogues of events have been generated stochastically and employed in the probabilistic analysis of expected losses over the territory of the Kyrgyz Republic. Damage and risk estimates have been computed by using an exposure model recently developed for the country, combined with the assignment of suitable fragility/vulnerability models. The risk estimation has been carried out with spatial aggregation at the district (rayon) level. The obtained results confirm the high level of seismic risk throughout the country, also pinpointing the location of several risk hotspots, particularly in the southern districts, in correspondence with the Ferghana valley. The outcome of this project will further support the local

  4. [Genetic counseling for adults: the risk of late-onset inherited diseases].

    Science.gov (United States)

    Dürr, Alexandra; Feingold, Josué

    2011-04-01

    Genetic counselling for adults is not classical since it deals with prospective assessment of risk in developing disease. 1% of adults have a monogenic disease, or are carriers of a genotype predisposing to a disease. Situations that need genetic counselling are: confirmation of a diagnosis of an inherited disease already known in the family; discovery of a new genetic disease in an adult with no family history of the disease (reduced penetrance); and presymptomatic and prenatal diagnosis for late onset diseases. The prescription of presymptomatic testing is limited to the intervention of multidisciplinary teams, bringing together medical expertise and notified to needed. This is a special situation because it is not always followed by a preventive action or treatment.