WorldWideScience

Sample records for preliminary genetic testing

  1. Health Orientation, Knowledge, and Attitudes toward Genetic Testing and Personalized Genomic Services: Preliminary Data from an Italian Sample

    Directory of Open Access Journals (Sweden)

    Serena Oliveri

    2016-01-01

    Full Text Available Objective. The study aims at assessing personality tendencies and orientations that could be closely correlated with knowledge, awareness, and interest toward undergoing genetic testing. Methods. A sample of 145 subjects in Italy completed an online survey, investigating demographic data, health orientation, level of perceived knowledge about genetic risk, genetic screening, and personal attitudes toward direct to consumer genetic testing (DTCGT. Results. Results showed that respondents considered genetic assessment to be helpful for disease prevention, but they were concerned that results could affect their life planning with little clinical utility. Furthermore, a very high percentage of respondents (67% had never heard about genetic testing directly available to the public. Data showed that personality tendencies, such as personal health consciousness, health internal control, health esteem, and confidence, motivation to avoid unhealthiness and motivation for healthiness affected the uptake of genetic information and the interest in undergoing genetic testing. Conclusions. Public knowledge and attitudes toward genetic risk and genetic testing among European countries, along with individual personality and psychological tendencies that could affect these attitudes, remain unexplored. The present study constitutes one of the first attempts to investigate how such personality tendencies could motivation to undergo genetic testing and engagement in lifestyle changes.

  2. Genetic Testing

    Science.gov (United States)

    ... is often the only way to determine if symptoms could possibly be related to celiac disease. For a person who faces this situation, a negative gene test would indicate that symptoms are not the result of celiac disease. A positive gene test, however, does not diagnose ...

  3. Genetic Testing for ALS

    Science.gov (United States)

    ... genetic counselor can help you work through the pros and cons of genetic testing based on your ... showing symptoms or what their progression will be. Technology is changing rapidly and costs of testing are ...

  4. What Is Genetic Ancestry Testing?

    Science.gov (United States)

    ... What is genetic ancestry testing? What is genetic ancestry testing? Genetic ancestry testing, or genetic genealogy, is ... with other groups. For more information about genetic ancestry testing: The University of Utah provides video tutorials ...

  5. What Is Genetic Ancestry Testing?

    Science.gov (United States)

    ... consumer genetic testing? What kinds of direct-to-consumer genetic tests are available? What is genetic ancestry testing? What are the benefits and risks of direct-to-consumer genetic testing? ...

  6. Genetic Testing Registry

    Science.gov (United States)

    ... RefSeqGene UniGene All Genes & Expression Resources... Genetics & Medicine Bookshelf Database of Genotypes and Phenotypes (dbGaP) Genetic Testing ... ProtMap HomoloGene Protein Clusters All Homology Resources... Literature Bookshelf E-Utilities Journals in NCBI Databases MeSH Database ...

  7. Pitfalls in genetic testing

    DEFF Research Database (Denmark)

    Djémié, Tania; Weckhuysen, Sarah; von Spiczak, Sarah

    2016-01-01

    BACKGROUND: Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying...

  8. On Preliminary Test Estimator for Median

    OpenAIRE

    Okazaki, Takeo; 岡崎, 威生

    1990-01-01

    The purpose of the present paper is to discuss about estimation of median with a preliminary test. Two procedures are presented, one uses Median test and the other uses Wilcoxon two-sample test for the preliminary test. Sections 3 and 4 give mathematical formulations of such properties, including mean square errors with one specified case. Section 5 discusses their optimal significance levels of the preliminary test and proposes their numerical values by Monte Carlo method. In addition to mea...

  9. Feline genetics: clinical applications and genetic testing.

    Science.gov (United States)

    Lyons, Leslie A

    2010-11-01

    DNA testing for domestic cat diseases and appearance traits is a rapidly growing asset for veterinary medicine. Approximately 33 genes contain 50 mutations that cause feline health problems or alterations in the cat's appearance. A variety of commercial laboratories can now perform cat genetic diagnostics, allowing both the veterinary clinician and the private owner to obtain DNA test results. DNA is easily obtained from a cat via a buccal swab with a standard cotton bud or cytological brush, allowing DNA samples to be easily sent to any laboratory in the world. The DNA test results identify carriers of the traits, predict the incidence of traits from breeding programs, and influence medical prognoses and treatments. An overall goal of identifying these genetic mutations is the correction of the defect via gene therapies and designer drug therapies. Thus, genetic testing is an effective preventative medicine and a potential ultimate cure. However, genetic diagnostic tests may still be novel for many veterinary practitioners and their application in the clinical setting needs to have the same scrutiny as any other diagnostic procedure. This article will review the genetic tests for the domestic cat, potential sources of error for genetic testing, and the pros and cons of DNA results in veterinary medicine. Highlighted are genetic tests specific to the individual cat, which are a part of the cat's internal genome. Copyright © 2010 Elsevier Inc. All rights reserved.

  10. An association study of 13 SNPs from seven candidate genes with pediatric asthma and a preliminary study for genetic testing by multiple variants in Taiwanese population.

    Science.gov (United States)

    Wang, Jiu-Yao; Liou, Ya-Huei; Wu, Ying-Jye; Hsiao, Ya-Hsin; Wu, Lawrence Shih-Hsin

    2009-03-01

    Asthma is one of the most common chronic diseases in children. It is caused by complex interactions between various genetic factors and exposures to environmental allergens and irritants. Because of the heterogeneity of the disease and the genetic and cultural differences among different populations, a proper association study and genetic testing for asthma and susceptibility genes is difficult to perform. We assessed 13 single-nucleotide polymorphisms (SNPs) in seven well-known asthma susceptibility genes and looked for association with pediatric asthma using 449 asthmatic subjects and 512 non-asthma subjects in Taiwanese population. CD14-159 C/T and MS4A2 Glu237Gly were identified to have difference in genotype/allele frequencies between the control group and asthma patients. Moreover, the genotype synergistic analysis showed that the co-contribution of two functional SNPs was riskier or more protective from asthma attack. Our study provided a genotype synergistic method for studying gene-gene interaction on polymorphism basis and genetic testing using multiple polymorphisms.

  11. Regulation of Genetic Tests

    Science.gov (United States)

    ... for Genomics Research Intellectual Property Issues in Genetics Archive Online Bioethics Resources Privacy in Genomics Regulation of ... are not regulated, meaning that they go to market without any independent analysis to verify the claims ...

  12. Eugenics and genetic testing.

    Science.gov (United States)

    Holtzman, N A

    1998-01-01

    Pressures to lower health-care costs remain an important stimulus to eugenic approaches. Prenatal diagnosis followed by abortion of affected fetuses has replaced sterilization as the major eugenic technique. Voluntary acceptance has replaced coercion, but subtle pressures undermine personal autonomy. The failure of the old eugenics to accurately predict who will have affected offspring virtually disappears when prenatal diagnosis is used to predict Mendelian disorders. However, when prenatal diagnosis is used to detect inherited susceptibilities to adult-onset, common, complex disorders, considerable uncertainty is inherent in the prediction. Intolerance and the resurgence of genetic determinism are current pressures for a eugenic approach. The increasing use of carrier screening (to identify those at risk of having affected offspring) and of prenatal diagnosis could itself generate intolerance for those who refuse the procedures. Genetic determinism deflects society from social action that would reduce the burden of disease far more than even the maximum use of eugenics.

  13. Prenatal Genetic Diagnostic Tests

    Science.gov (United States)

    ... are available for many inherited disorders. The main disadvantage is that diagnostic testing carries a very small ... chromosomes, arranged in order of size. Microarray: A technology that examines all of a person’s genes to ...

  14. Cyclonic valve test: preliminary results

    Energy Technology Data Exchange (ETDEWEB)

    Monteiro, Andre Sampaio; Moraes, Carlos Alberto C.; Marins, Luiz Philipe M.; Soares, Fabricio; Oliveira, Dennis; Lima, Fabio Soares de; Airao, Vinicius [Petroleo Brasileiro S.A. (PETROBRAS), Rio de Janeiro, RJ (Brazil); Ton, Tijmen [Twister BV, Rijswijk (Netherlands)

    2012-07-01

    For many years, the petroleum industry has been developing a valve that input less shear to the flow for a given required pressure drop and this can be done using the cyclonic concept. This paper presents a comparison between the performances of a cyclonic valve (low shear) and a conventional globe valve. The aim of this work is to show the advantages of using a cyclonic low shear valve instead of the commonly used in the primary separation process by PETROBRAS. Tests were performed at PETROBRAS Experimental Center (NUEX) in Aracaju/SE varying some parameters: water cut; pressure loss (from 4 kgf/cm2 to 10 kgf/cm2); flow rates (30 m3/h and 45 m3/h). Results indicates a better performance of the cyclonic valve, if compared with a conventional one, and also that the difference of the performance, is a function of several parameters (emulsion stability, water content free, and oil properties). The cyclonic valve tested can be applied as a choke valve, as a valve between separation stages (for pressure drop), or for controlling the level of vessels. We must emphasize the importance to avoid the high shear imposed by conventional valves, because once the emulsion is created, it becomes more difficult to break it. New tests are being planned to occur in 2012, but PETROBRAS is also analyzing real cases where the applications could increase the primary process efficiency. In the same way, the future installations are also being designed considering the cyclonic valve usage. (author)

  15. Genetic testing for hearing impairment.

    Science.gov (United States)

    Topsakal, V; Van Camp, G; Van de Heyning, P

    2005-01-01

    For some patients, genetic testing can reveal the etiology of their hearing impairment, and can provide evidence for a medical diagnosis. However, a gap between fundamental genetic research on hereditary deafness and clinical otology emerges because of the steadily increasing number of discovered genes for hereditary hearing impairment (HHI) and the comparably low clinical differentiation of the HHIs. In an attempt to keep up with the scientific progress, this article enumerates the indications of genetic testing for HHI from a clinical point of view and describes the most frequently encountered HHIs in Belgium. Domains of recent scientific interest, molecular biological aspects, and some pitfalls with HHIs are highlighted. The overview comprises bilateral congenital hearing loss, late-onset progressive high frequency hearing loss, progressive bilateral cochleo-vestibular deficit, and progressive low frequency hearing loss. Also, several syndromal forms of HHI are summarized, and the availability of genetic tests mentioned. Finally, the requirements for successful linkage analysis, an important genetic research tool for localizing the potential genes of a trait on a chromosome, are briefly described.

  16. Genetic Testing: MedlinePlus Health Topic

    Science.gov (United States)

    ... Your Family's Health (National Institutes of Health) - PDF Topic Image MedlinePlus Email Updates Get Genetic Testing updates ... testing and your cancer risk Karyotyping Related Health Topics Birth Defects Genetic Counseling Genetic Disorders Newborn Screening ...

  17. Attitudes towards genetic testing: analysis of contradictions

    DEFF Research Database (Denmark)

    Jallinoja, P; Hakonen, A; Aro, A R

    1998-01-01

    A survey study was conducted among 1169 people to evaluate attitudes towards genetic testing in Finland. Here we present an analysis of the contradictions detected in people's attitudes towards genetic testing. This analysis focuses on the approval of genetic testing as an individual choice and o...... studies on attitudes towards genetic testing as well as in the health care context, e.g. in genetic counselling.......A survey study was conducted among 1169 people to evaluate attitudes towards genetic testing in Finland. Here we present an analysis of the contradictions detected in people's attitudes towards genetic testing. This analysis focuses on the approval of genetic testing as an individual choice...... and on the confidence in control of the process of genetic testing and its implications. Our analysis indicated that some of the respondents have contradictory attitudes towards genetic testing. It is proposed that contradictory attitudes towards genetic testing should be given greater significance both in scientific...

  18. Preliminary genetic linkage map of the abalone Haliotis diversicolor Reeve

    Science.gov (United States)

    Shi, Yaohua; Guo, Ximing; Gu, Zhifeng; Wang, Aimin; Wang, Yan

    2010-05-01

    Haliotis diversicolor Reeve is one of the most important mollusks cultured in South China. Preliminary genetic linkage maps were constructed with amplified fragment length polymorphism (AFLP) markers. A total of 2 596 AFLP markers were obtained from 28 primer combinations in two parents and 78 offsprings. Among them, 412 markers (15.9%) were polymorphic and segregated in the mapping family. Chi-square tests showed that 151 (84.4%) markers segregated according to the expected 1:1 Mendelian ratio ( P<0.05) in the female parent, and 200 (85.8%) in the male parent. For the female map, 179 markers were used for linkage analysis and 90 markers were assigned to 17 linkage groups with an average interval length of 25.7 cm. For the male map, 233 markers were used and 94 were mapped into 18 linkage groups, with an average interval of 25.0 cm. The estimated genome length was 2 773.0 cm for the female and 2 817.1 cm for the male map. The observed length of the linkage map was 1 875.2 cm and 1 896.5 cm for the female and male maps, respectively. When doublets were considered, the map length increased to 2 152.8 cm for the female and 2 032.7 cm for the male map, corresponding to genome coverage of 77.6% and 72.2%, respectively.

  19. What Are the Types of Genetic Tests?

    Science.gov (United States)

    ... or catastrophe victims, rule out or implicate a crime suspect, or establish biological relationships between people (for example, paternity). For more information about the uses of genetic testing: A Brief Primer on Genetic Testing , which ...

  20. Adults' perceptions of genetic counseling and genetic testing.

    Science.gov (United States)

    Houfek, Julia Fisco; Soltis-Vaughan, Brigette S; Atwood, Jan R; Reiser, Gwendolyn M; Schaefer, G Bradley

    2015-02-01

    This study described the perceptions of genetic counseling and testing of adults (N = 116) attending a genetic education program. Understanding perceptions of genetic counseling, including the importance of counseling topics, will contribute to patient-focused care as clinical genetic applications for common, complex disorders evolve. Participants completed a survey addressing: the importance of genetic counseling topics, benefits and negative effects of genetic testing, and sharing test results. Topics addressing practical information about genetic conditions were rated most important; topics involving conceptual genetic/genomic principles were rated least important. The most frequently identified benefit and negative effect of testing were prevention/early detection/treatment and psychological distress. Participants perceived that they were more likely to share test results with first-degree than other relatives. Findings suggest providing patients with practical information about genetic testing and genetic contributions to disease, while also determining whether their self-care abilities would be enhanced by teaching genetic/genomic principles. Copyright © 2014 Elsevier Inc. All rights reserved.

  1. Confronting Science: The Dilemma of Genetic Testing.

    Science.gov (United States)

    Zallen, Doris T.

    1997-01-01

    Considers the opportunities and ethical issues involved in genetic testing. Reviews the history of genetics from the first discoveries of Gregor Mendel, through the spurious pseudo-science of eugenics, and up to the discovery of DNA by James Watson and Francis Crick. Explains how genetic tests are done. (MJP)

  2. Genetic counseling and testing for gynecological cancers ...

    African Journals Online (AJOL)

    undergraduates of universities in Ibadan to genetic counseling and testing (GCT) for ... questionnaire, information on their understanding of GCT, perception of implications, and ... by genetic counseling from suitably trained health-care providers and genetic testing of selected high-risk individuals ..... Multiple sexual partners.

  3. Clinical applications of preimplantation genetic testing.

    Science.gov (United States)

    Brezina, Paul R; Kutteh, William H

    2015-02-19

    Genetic diagnostic technologies are rapidly changing the way medicine is practiced. Preimplantation genetic testing is a well established application of genetic testing within the context of in vitro fertilization cycles. It involves obtaining a cell(s) from a developing embryo in culture, which is then subjected to genetic diagnostic analysis; the resulting information is used to guide which embryos are transferred into the uterus. The potential applications and use of this technology have increased in recent years. Experts agree that preimplantation genetic diagnosis is clinically appropriate for many known genetic disorders. However, some applications of such testing, such as preimplantation genetic screening for aneuploidy, remain controversial. Clinical data suggest that preimplantation genetic screening may be useful, but further studies are needed to quantify the size of the effect and who would benefit most. © BMJ Publishing Group Ltd 2015.

  4. [Quality assurance in human genetic testing].

    Science.gov (United States)

    Stuhrmann-Spangenberg, Manfred

    2015-02-01

    Advances in technical developments of genetic diagnostics for more than 50 years, as well as the fact that human genetic testing is usually performed only once in a lifetime, with additional impact for blood relatives, are determining the extraordinary importance of quality assurance in human genetic testing. Abidance of laws, directives, and guidelines plays a major role. This article aims to present the major laws, directives, and guidelines with respect to quality assurance of human genetic testing, paying careful attention to internal and external quality assurance. The information on quality assurance of human genetic testing was obtained through a web-based search of the web pages that are referred to in this article. Further information was retrieved from publications in the German Society of Human Genetics and through a PubMed-search using term quality + assurance + genetic + diagnostics. The most important laws, directives, and guidelines for quality assurance of human genetic testing are the gene diagnostics law (GenDG), the directive of the Federal Medical Council for quality control of clinical laboratory analysis (RiliBÄK), and the S2K guideline for human genetic diagnostics and counselling. In addition, voluntary accreditation under DIN EN ISO 15189:2013 offers a most recommended contribution towards quality assurance of human genetic testing. Legal restraints on quality assurance of human genetic testing as mentioned in § 5 GenDG are fulfilled once RiliBÄK requirements are followed.

  5. Preliminary Test for Constitutive Models of CAP

    Energy Technology Data Exchange (ETDEWEB)

    Choo, Yeon Joon; Hong, Soon Joon; Hwang, Su Hyun; Lee, Keo Hyung; Kim, Min Ki; Lee, Byung Chul [FNC Tech., Seoul (Korea, Republic of); Ha, Sang Jun; Choi, Hoon [Korea Electric Power Research Institute, Daejeon (Korea, Republic of)

    2010-05-15

    The development project for the domestic design code was launched to be used for the safety and performance analysis of pressurized light water reactors. As a part of this project, CAP (Containment Analysis Package) code has been developing for the containment safety and performance analysis side by side with SPACE. The CAP code treats three fields (vapor, continuous liquid and dispersed drop) for the assessment of containment specific phenomena, and is featured by assessment capabilities in multi-dimensional and lumped parameter thermal hydraulic cell. Thermal hydraulics solver was developed and has a significant progress now. Implementation of the well proven constitutive models and correlations are essential in other for a containment code to be used with the generalized or optimized purposes. Generally, constitutive equations are composed of interfacial and wall transport models and correlations. These equations are included in the source terms of the governing field equations. In order to develop the best model and correlation package of the CAP code, various models currently used in major containment analysis codes, such as GOTHIC, CONTAIN2.0 and CONTEMPT-LT are reviewed. Several models and correlations were incorporated for the preliminary test of CAP's performance and test results and future plans to improve the level of execution besides will be discussed in this paper

  6. Preliminary Test for Constitutive Models of CAP

    International Nuclear Information System (INIS)

    Choo, Yeon Joon; Hong, Soon Joon; Hwang, Su Hyun; Lee, Keo Hyung; Kim, Min Ki; Lee, Byung Chul; Ha, Sang Jun; Choi, Hoon

    2010-01-01

    The development project for the domestic design code was launched to be used for the safety and performance analysis of pressurized light water reactors. As a part of this project, CAP (Containment Analysis Package) code has been developing for the containment safety and performance analysis side by side with SPACE. The CAP code treats three fields (vapor, continuous liquid and dispersed drop) for the assessment of containment specific phenomena, and is featured by assessment capabilities in multi-dimensional and lumped parameter thermal hydraulic cell. Thermal hydraulics solver was developed and has a significant progress now. Implementation of the well proven constitutive models and correlations are essential in other for a containment code to be used with the generalized or optimized purposes. Generally, constitutive equations are composed of interfacial and wall transport models and correlations. These equations are included in the source terms of the governing field equations. In order to develop the best model and correlation package of the CAP code, various models currently used in major containment analysis codes, such as GOTHIC, CONTAIN2.0 and CONTEMPT-LT are reviewed. Several models and correlations were incorporated for the preliminary test of CAP's performance and test results and future plans to improve the level of execution besides will be discussed in this paper

  7. Preliminary test conditions for KNGR SBLOCA DVI ECCS performance test

    International Nuclear Information System (INIS)

    Bae, Kyoo Whan; Song, Jin Ho; Chung, Young Jong; Sim, Suk Ku; Park, Jong Kyun

    1999-03-01

    The Korean Next Generation Reactor (KNGR) adopts 4-train Direct Vessel Injection (DVI) configuration and injects the safety injection water directly into the downcomer through the 8.5'' DVI nozzle. Thus, the thermal hydraulic phenomena such as ECCS mixing and bypass are expected to be different from those observed in the cold leg injection. In order to investigate the realistic injection phenomena and modify the analysis code developed in the basis of cold leg injection, thermal hydraulic test with the performance evaluation is required. Preliminarily, the sequence of events and major thermal hydraulic phenomena during the small break LOCA for KNGR are identified from the analysis results calculated by the CEFLASH-4AS/REM. It is shown from the analysis results that the major transient behaviors including the core mixture level are largely affected by the downcomer modeling. Therefore, to investigate the proper thermal hydraulic phenomena occurring in the downcomer with limited budget and time, the separate effects test focusing on this region is considered to be effective and the conceptual test facility based on this recommended. For this test facility the test initial and boundary conditions are developed using the CEFLASH-4AS/REM analysis results that will be used as input for the preliminary test requirements. The final test requirements will be developed through the further discussions with the test performance group. (Author). 10 refs., 18 tabs., 4 figs

  8. Marketing genetic tests: empowerment or snake oil?

    Science.gov (United States)

    Bowen, Deborah J; Battuello, Kathryn M; Raats, Monique

    2005-10-01

    Genetic tests are currently being offered to the general public with little oversight and regulation as to which tests are allowed to be sold clinically and little control over the marketing and promotion of sales and use. This article provides discussion and data to indicate that the general public holds high opinions of genetic testing and that current media outlets for public education on genetic testing are not adequate to increase accurate knowledge of genetics. The authors argue that more regulation is needed to control and correct this problem in the United States.

  9. What Is Direct-to-Consumer Genetic Testing?

    Science.gov (United States)

    ... consumer genetic testing? What kinds of direct-to-consumer genetic tests are available? What is genetic ancestry testing? What are the benefits and risks of direct-to-consumer genetic testing? ...

  10. Testing for Genetically Modified Foods Using PCR

    Science.gov (United States)

    Taylor, Ann; Sajan, Samin

    2005-01-01

    The polymerase chain reaction (PCR) is a Nobel Prize-winning technique that amplifies a specific segment of DNA and is commonly used to test for the presence of genetic modifications. Students use PCR to test corn meal and corn-muffin mixes for the presence of a promoter commonly used in genetically modified foods, the cauliflower mosaic virus 35S…

  11. Preliminary results of steel containment vessel model test

    International Nuclear Information System (INIS)

    Matsumoto, T.; Komine, K.; Arai, S.

    1997-01-01

    A high pressure test of a mixed-scaled model (1:10 in geometry and 1:4 in shell thickness) of a steel containment vessel (SCV), representing an improved boiling water reactor (BWR) Mark II containment, was conducted on December 11-12, 1996 at Sandia National Laboratories. This paper describes the preliminary results of the high pressure test. In addition, the preliminary post-test measurement data and the preliminary comparison of test data with pretest analysis predictions are also presented

  12. Personalized Genetic Testing and Norovirus Susceptibility

    Directory of Open Access Journals (Sweden)

    Natalie Prystajecky

    2014-01-01

    Full Text Available BACKGROUND: The availability of direct-to-consumer personalized genetic testing has enabled the public to access and interpret their own genetic information. Various genetic traits can be determined including resistance to norovirus through a nonsense mutation (G428A in the FUT2 gene. Although this trait is believed to confer resistance to the most dominant norovirus genotype (GII.4, the spectrum of resistance to other norovirus strains is unknown. The present report describes a cluster of symptomatic norovirus GI.6 infection in a family identified to have norovirus resistance through personalized genetic testing.

  13. Preliminary tests of the electrostatic plasma accelerator

    Science.gov (United States)

    Aston, G.; Acker, T.

    1990-01-01

    This report describes the results of a program to verify an electrostatic plasma acceleration concept and to identify those parameters most important in optimizing an Electrostatic Plasma Accelerator (EPA) thruster based upon this thrust mechanism. Preliminary performance measurements of thrust, specific impulse and efficiency were obtained using a unique plasma exhaust momentum probe. Reliable EPA thruster operation was achieved using one power supply.

  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. Genetic Testing: Understanding the Personal Stories.

    Science.gov (United States)

    DuBois, James M

    2015-01-01

    Twelve personal narratives address the challenges, benefits, and pitfalls of genetic testing. Three commentary articles explore these stories and suggest lessons that can be learned from them. The commentators come from backgrounds that include bioethics, public health, psychology, and philosophy.

  16. Predictive genetic tests: problems and pitfalls.

    Science.gov (United States)

    Davis, J G

    1997-12-29

    The role that genetic factors play in medicine has expanded, owing to such recent advances as those made by the Human Genome Project and the work that has spun off from it. The project is focusing particularly on localization and characterization of recognized human genetic disorders, which in turn increases awareness of the potential for improved treatment of these disorders. Technical advances in genetic testing in the absence of effective treatment has presented the health profession with major ethical challenges. The example of the identification of the BRCA1 and BRCA2 genes in families at high risk for breast and ovarian cancer is presented to illustrate the issues of the sensitivity of the method, the degree of susceptibility a positive result implies, the need for and availability of counseling and patient education, and confidentiality of the test results. A compelling need exists for adequate education about medical genetics to raise the "literacy" rate among health professionals.

  17. Visual perception skills testing: preliminary results

    CSIR Research Space (South Africa)

    Smith, Andrew C

    2009-02-01

    Full Text Available Good visual perception skills are important in the effective manipulation of Tangible User Interfaces. This paper reports on the application of a test set researchers have developed specifically to quantify the visual perception skills of children...

  18. Genetic variability in Sambucus nigra L. clones : a preliminary ...

    Indian Academy of Sciences (India)

    c Indian Academy of Sciences. ONLINE ... yield and production evaluations revealed that clones from ..... Population genetic software for teaching and research. Mol. Ecol. ... and genetic evaluation of interspecific hybrids within the genus.

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

    Science.gov (United States)

    ... the person who is tested. The possibility of genetic discrimination in employment or insurance is also a concern. (Refer to What is genetic discrimination? for additional information.) Genetic testing can provide only ...

  20. Knowledge of Genetics and Attitudes toward Genetic Testing among College Students in Saudi Arabia.

    Science.gov (United States)

    Olwi, Duaa; Merdad, Leena; Ramadan, Eman

    2016-01-01

    Genetic testing has been gradually permeating the practice of medicine. Health-care providers may be confronted with new genetic approaches that require genetically informed decisions which will be influenced by patients' knowledge of genetics and their attitudes toward genetic testing. This study assesses the knowledge of genetics and attitudes toward genetic testing among college students. A cross-sectional study was conducted using a multistage stratified sample of 920 senior college students enrolled at King Abdulaziz University, Saudi Arabia. Information regarding knowledge of genetics, attitudes toward genetic testing, and sociodemographic data were collected using a self-administered questionnaire. In general, students had a good knowledge of genetics but lacked some fundamentals of genetics. The majority of students showed positive attitudes toward genetic testing, but some students showed negative attitudes toward certain aspects of genetic testing such as resorting to abortion in the case of an untreatable major genetic defect in an unborn fetus. The main significant predictors of knowledge were faculty, gender, academic year, and some prior awareness of 'genetic testing'. The main significant predictors of attitudes were gender, academic year, grade point average, and some prior awareness of 'genetic testing'. The knowledge of genetics among college students was higher than has been reported in other studies, and the attitudes toward genetic testing were fairly positive. Genetics educational programs that target youths may improve knowledge of genetics and create a public perception that further supports genetic testing. © 2016 S. Karger AG, Basel.

  1. Preliminary tests of holography in BEBC

    International Nuclear Information System (INIS)

    Pouyat, F.

    1982-01-01

    A collaboration has been set-up between the Institut de Recherche in St. Louis (ISL), the Rutherford Appleton Laboratory (RAL), and the BEBC Group at CERN to study possibilities for application of holographic techniques in BEBC. Laboratory tests and a first trial in BEBC have shown that holograms can be recorded with a two-beam set-up adapted to the optics system of the chamber. The object beam passing through the fish-eye windows illuminates the chamber; after reflection from the Scotchlite panel at the bottom of BEBC it falls through a large-aperture lens onto the film plane. The reference beam is projected directly onto the holographic film plane without passing through the chamber liquid. First results are presented on the influence of the BEBC magnetic field, vibrations of the BEBC expansion system, and on the limitations on resolution to be expected. An outlook is given of future plans for trying to feed a test program on holography into the physics program of the chamber. (orig.)

  2. Preliminary results of testing bioassay analytical performance standards

    International Nuclear Information System (INIS)

    Fisher, D.R.; Robinson, A.V.; Hadley, R.T.

    1983-08-01

    The analytical performance of both in vivo and in vitro bioassay laboratories is being studied to determine the capability of these laboratories to meet the minimum criteria for accuracy and precision specified in the draft ANSI Standard N13.30, Performance Criteria for Radiobioassay. This paper presents preliminary results of the first round of testing

  3. Preliminary Test for Nonlinear Input Output Relations in SISO Systems

    DEFF Research Database (Denmark)

    Knudsen, Torben

    2000-01-01

    This paper discusses and develops preliminary statistical tests for detecting nonlinearities in the deterministic part of SISO systems with noise. The most referenced method is unreliable for common noise processes as e.g.\\ colored. Therefore two new methods based on superposition and sinus input...

  4. Preliminary project of installation for separation tubes tests-ITTS

    International Nuclear Information System (INIS)

    Rocha, Z.

    1984-01-01

    A consolidation of actual ideas about installation, entitled ''Installation to separation tubes tests-ITTS'', expected to CDTN is presented. The project bases, the testing to be realized, the procedures to be obeyed during the operation, the components and the space required by installation and auxiliary equipments, the presumable origin of components (nacional and international), including a preliminary list of building and operation costs are described. (author) [pt

  5. Privacy and equality in diagnostic genetic testing.

    Science.gov (United States)

    Nyrhinen, Tarja; Hietala, Marja; Puukka, Pauli; Leino-Kilpi, Helena

    2007-05-01

    This study aimed to determine the extent to which the principles of privacy and equality were observed during diagnostic genetic testing according to views held by patients or child patients' parents (n = 106) and by staff (n = 162) from three Finnish university hospitals. The data were collected through a structured questionnaire and analysed using the SAS 8.1 statistical software. In general, the two principles were observed relatively satisfactorily in clinical practice. According to patients/parents, equality in the post-analytic phase and, according to staff, privacy in the pre-analytic phase, involved the greatest ethical problems. The two groups differed in their views concerning pre-analytic privacy. Although there were no major problems regarding the two principles, the differences between the testing phases require further clarification. To enhance privacy protection and equality, professionals need to be given more genetics/ethics training, and patients individual counselling by genetics units staff, giving more consideration to patients' world-view, the purpose of the test and the test result.

  6. Awareness of Cancer Susceptibility Genetic Testing

    Science.gov (United States)

    Mai, Phuong L.; Vadaparampil, Susan Thomas; Breen, Nancy; McNeel, Timothy S.; Wideroff, Louise; Graubard, Barry I.

    2014-01-01

    Background Genetic testing for several cancer susceptibility syndromes is clinically available; however, existing data suggest limited population awareness of such tests. Purpose To examine awareness regarding cancer genetic testing in the U.S. population aged ≥25 years in the 2000, 2005, and 2010 National Health Interview Surveys. Methods The weighted percentages of respondents aware of cancer genetic tests, and percent changes from 2000–2005 and 2005–2010, overall and by demographic, family history, and healthcare factors were calculated. Interactions were used to evaluate the patterns of change in awareness between 2005 and 2010 among subgroups within each factor. To evaluate associations with awareness in 2005 and 2010, percentages were adjusted for covariates using multiple logistic regression. The analysis was performed in 2012. Results Awareness decreased from 44.4% to 41.5% (pAwareness increased between 2005 and 2010 in most subgroups, particularly among individuals in the South (p-interaction=0.03) or with a usual place of care (p-interaction=0.01). In 2005 and 2010, awareness was positively associated with personal or family cancer history and high perceived cancer risk, and inversely associated with racial/ethnic minorities, age 25–39 or ≥60 years, male gender, lower education and income levels, public or no health insurance, and no provider contact in 12 months. Conclusions Despite improvement from 2005 to 2010, ≤50% of the U.S. adult population was aware of cancer genetic testing in 2010. Notably, disparities persist for racial/ethnic minorities and individuals with limited health care access or income. PMID:24745633

  7. Preliminary genetic linkage map of Indian major carp, Labeo rohita ...

    Indian Academy of Sciences (India)

    2015-06-10

    Jun 10, 2015 ... (i) the development of microsatellite markers; (ii) the use of these markers ... libraries were subjected to sequencing using 454 GS FLX. Keywords. ..... 1996 A comprehensive genetic map of the human genome based on 5,264 ...

  8. Application of Next Generation Sequencing on Genetic Testing

    DEFF Research Database (Denmark)

    Li, Jian

    The discovery of genetic factors behind increasing number of human diseases and the growth of education of genetic knowledge to the public make demands for genetic testing increase rapidly. However, traditional genetic testing methods cannot meet all kinds of the requirements. Next generation seq...

  9. Genetic counseling and cascade genetic testing in Lynch syndrome.

    Science.gov (United States)

    Hampel, Heather

    2016-07-01

    Lynch syndrome is the most common cause of inherited colorectal and endometrial cancers. Individuals with Lynch syndrome have a 10-80 % lifetime risk for colorectal cancer and a 15-60 % lifetime risk for endometrial cancer. Both cancers are preventable through chemoprevention, intensive cancer surveillance, and risk-reducing surgery options. Efforts to identify as many individuals with Lynch syndrome as possible will prevent cancers and save lives. This includes the traditional cancer genetic counseling model whereby individuals with and without cancer are evaluated for a possible Lynch syndrome diagnosis based on their personal and family history of colon polyps and cancers. It also includes universal tumor screening for Lynch syndrome whereby all individuals with colorectal or endometrial cancer are screened for tumor features of Lynch syndrome at the time of diagnosis. Those with tumors suspicious for Lynch syndrome are referred for cancer genetic counseling regardless of their family history of cancer. This two approaches must be maximized to attain high patient reach. Finally, and perhaps most importantly, cascade testing among the at-risk relatives of those diagnosed with Lynch syndrome is critically important to maximize the diagnosis of individuals with Lynch syndrome. In fact, the cost-effectiveness of universal tumor screening for Lynch syndrome relies entirely on counseling and testing as many at-risk individuals as possible since young unaffected individuals stand to benefit the most from an early diagnosis of Lynch syndrome. This approach must be optimized to achieve high family reach. It will take a concerted effort from patients, clinicians and public health officials to improve current approaches to the diagnosis of Lynch syndrome and the prevention and treatment of Lynch syndrome-associated cancer but these lessons can be applied to other conditions as the ultimate example of personalized medicine.

  10. Preliminary molecular analysis of the genetic diversity of some ...

    African Journals Online (AJOL)

    In the arid and semi arid areas, salt bush (Atriplex) represents an important forage resource. The characterization of the genetic diversity of these species is useful for their classification, their conservation and their improvement. In this context, we used the random amplified polymorphic DNA-polymerase chain reaction ...

  11. Preliminary genetic linkage map of Miscanthus sinensis with RAPD markers

    NARCIS (Netherlands)

    Atienza, S.G.; Satovic, Z.; Petersen, K.K.; Dolstra, O.; Martin, A.

    2002-01-01

    We have used an "offspring cross" mapping strategy in combination with the random amplified polymorphic DNA (RAPD) assay to construct the first genetic map of the species Miscanthus sinensis (2n = 2x = 38). This map is based on an outbred population of 89 individuals resulting from the cross between

  12. Genetic Testing and Its Implications: Human Genetics Researchers Grapple with Ethical Issues.

    Science.gov (United States)

    Rabino, Isaac

    2003-01-01

    Contributes systematic data on the attitudes of scientific experts who engage in human genetics research about the pros, cons, and ethical implications of genetic testing. Finds that they are highly supportive of voluntary testing and the right to know one's genetic heritage. Calls for greater genetic literacy. (Contains 87 references.) (Author/NB)

  13. What Is Direct-to-Consumer Genetic Testing?

    Science.gov (United States)

    ... consumer genetic testing. Additional information about direct-to-consumer marketing of genetic tests and related research questions are ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  14. Adolescents, Graduated Autonomy, and Genetic Testing

    Directory of Open Access Journals (Sweden)

    Susan Fox

    2012-01-01

    Full Text Available Autonomy takes many shapes. The concept of “graduated autonomy” is conceived as comprising several unique features: (1 it is incremental, (2 it is proportional, and (3 it is related to the telos of the life stage during which it occurs. This paper focuses on graduated autonomy in the context of genetic testing during adolescence. Questions can be raised about other life stages as well, and some of these questions will be addressed by discussing a possible fourth characteristic of graduated autonomy, that is, its elasticity. Further scholarship and analysis is needed to refine the concept of graduated autonomy and examine its applications.

  15. The picture test of separation and individuation - preliminary research

    Directory of Open Access Journals (Sweden)

    Gregor Žvelc

    2000-06-01

    Full Text Available Authors introduce a new instrument, which they developed for measuring separation and individuation process and attachment in adolescence and adulthood. The Picture Test of Separation and Individuation (PTSI is a semi–projective test. It consists of various pictures, which represent relationships with significant others. PTSI is divided into three subtests: Relationship with Mother, Relationship with Father and Attachment. In a preliminary research on a sample of college and university students authors studied basic properties of the test. The results of the research indicate that PTSI is consistent with theoretical background, has good sensitivity and is economical. The Picture Test of Separation and Individuation enables quick but complex insight into individual's relationships with significant others as well as into his/her stage of separation and individuation process. Considering satisfying results of pilot study, authors suggest further research for validation of the test.

  16. A preliminary examination of genetic diversity in the Indian false vampire bat Megaderma lyra

    Directory of Open Access Journals (Sweden)

    Emmanuvel Rajan, K.

    2006-12-01

    Full Text Available Habitat loss and fragmentation have serious consequences for species extinction as well as genetic diversity within a species. Random Amplified Polymorphic DNA (RAPD analysis was employed to assess the genetic diversity within and between four natural populations of M. lyra. Our results suggest that the genetic diversity varied from 0.21 to 0.26 with a mean of 0.11 to 0.13 (± SD. The mean Gst value of 0.15 was obtained from all four populations and estimated average Nm (1.41 showing gene flow between the populations. AMOVA analysis showed 88.96% within and 11.04% among the studied populations. Cluster analyses of RAPD phenotypes showed that specimens were not grouped by geographical origin. The genetic diversity found in the M. lyra population may be explained by its breeding behaviors. Though preliminary, the results indicate that all four populations should be considered to maintain the genetic diversity.

  17. Genetic counseling and the ethical issues around direct to consumer genetic testing.

    Science.gov (United States)

    Hawkins, Alice K; Ho, Anita

    2012-06-01

    Over the last several years, direct to consumer(DTC) genetic testing has received increasing attention in the public, healthcare and academic realms. DTC genetic testing companies face considerable criticism and scepticism,particularly from the medical and genetic counseling community. This raises the question of what specific aspects of DTC genetic testing provoke concerns, and conversely,promises, for genetic counselors. This paper addresses this question by exploring DTC genetic testing through an ethic allens. By considering the fundamental ethical approaches influencing genetic counseling (the ethic of care and principle-based ethics) we highlight the specific ethical concerns raised by DTC genetic testing companies. Ultimately,when considering the ethics of DTC testing in a genetic counseling context, we should think of it as a balancing act. We need careful and detailed consideration of the risks and troubling aspects of such testing, as well as the potentially beneficial direct and indirect impacts of the increased availability of DTC genetic testing. As a result it is essential that genetic counselors stay informed and involved in the ongoing debate about DTC genetic testing and DTC companies. Doing so will ensure that the ethical theories and principles fundamental to the profession of genetic counseling are promoted not just in traditional counseling sessions,but also on a broader level. Ultimately this will help ensure that the public enjoys the benefits of an increasingly genetic based healthcare system.

  18. Hereditary arrhythmias and cardiomyopathies: decision-making about genetic testing.

    Science.gov (United States)

    Louis, Clauden; Calamaro, Emily; Vinocur, Jeffrey M

    2018-01-01

    The modern field of clinical genetics has advanced beyond the traditional teachings familiar to most practicing cardiologists. Increased understanding of the roles of genetic testing may improve uptake and appropriateness of use. Clinical genetics has become integral to the management of patients with hereditary arrhythmia and cardiomyopathy diagnoses. Depending on the condition, genetic testing may be useful for diagnosis, prognosis, treatment, family screening, and reproductive planning. However, genetic testing is a powerful tool with potential for underuse, overuse, and misuse. In the absence of a substantial body of literature on how these guidelines are applied in clinical practice, we use a case-based approach to highlight key lessons and pitfalls. Importantly, in many scenarios genetic testing has become the standard of care supported by numerous class I recommendations; genetic counselors can improve accessibility to and appropriate use and application of testing. Optimal management of hereditary arrhythmias and cardiomyopathies incorporates genetic testing, applied as per consensus guidelines, with involvement of a multidisciplinary team.

  19. Genetic testing in the epilepsies—Report of the ILAE Genetics Commission

    OpenAIRE

    Ottman, Ruth; Hirose, Shinichi; Jain, Satish; Lerche, Holger; Lopes-Cendes, Iscia; Noebels, Jeffrey L.; Serratosa, José; Zara, Federico; Scheffer, Ingrid E.

    2010-01-01

    In this report, the International League Against Epilepsy (ILAE) Genetics Commission discusses essential issues to be considered with regard to clinical genetic testing in the epilepsies. Genetic research on the epilepsies has led to the identification of more than 20 genes with a major effect on susceptibility to idiopathic epilepsies. The most important potential clinical application of these discoveries is genetic testing: the use of genetic information, either to clarify the diagnosis in ...

  20. Preliminary Tests of a New Low-Cost Photogrammetric System

    Science.gov (United States)

    Santise, M.; Thoeni, K.; Roncella, R.; Sloan, S. W.; Giacomini, A.

    2017-11-01

    This paper presents preliminary tests of a new low-cost photogrammetric system for 4D modelling of large scale areas for civil engineering applications. The system consists of five stand-alone units. Each of the units is composed of a Raspberry Pi 2 Model B (RPi2B) single board computer connected to a PiCamera Module V2 (8 MP) and is powered by a 10 W solar panel. The acquisition of the images is performed automatically using Python scripts and the OpenCV library. Images are recorded at different times during the day and automatically uploaded onto a FTP server from where they can be accessed for processing. Preliminary tests and outcomes of the system are discussed in detail. The focus is on the performance assessment of the low-cost sensor and the quality evaluation of the digital surface models generated by the low-cost photogrammetric systems in the field under real test conditions. Two different test cases were set up in order to calibrate the low-cost photogrammetric system and to assess its performance. First comparisons with a TLS model show a good agreement.

  1. PRELIMINARY TESTS OF A NEW LOW-COST PHOTOGRAMMETRIC SYSTEM

    Directory of Open Access Journals (Sweden)

    M. Santise

    2017-11-01

    Full Text Available This paper presents preliminary tests of a new low-cost photogrammetric system for 4D modelling of large scale areas for civil engineering applications. The system consists of five stand-alone units. Each of the units is composed of a Raspberry Pi 2 Model B (RPi2B single board computer connected to a PiCamera Module V2 (8 MP and is powered by a 10 W solar panel. The acquisition of the images is performed automatically using Python scripts and the OpenCV library. Images are recorded at different times during the day and automatically uploaded onto a FTP server from where they can be accessed for processing. Preliminary tests and outcomes of the system are discussed in detail. The focus is on the performance assessment of the low-cost sensor and the quality evaluation of the digital surface models generated by the low-cost photogrammetric systems in the field under real test conditions. Two different test cases were set up in order to calibrate the low-cost photogrammetric system and to assess its performance. First comparisons with a TLS model show a good agreement.

  2. Counseling Customers: Emerging Roles for Genetic Counselors in the Direct-to-Consumer Genetic Testing Market

    NARCIS (Netherlands)

    Harris, A.; Kelly, S.; Wyatt, S.

    2013-01-01

    Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be included with the product. Several genetic testing

  3. Genetics educational needs in China: physicians' experience and knowledge of genetic testing.

    Science.gov (United States)

    Li, Jing; Xu, Tengda; Yashar, Beverly M

    2015-09-01

    The aims of this study were to explore the relationship between physicians' knowledge and utilization of genetic testing and to explore genetics educational needs in China. An anonymous survey about experience, attitudes, and knowledge of genetic testing was conducted among physicians affiliated with Peking Union Medical College Hospital during their annual health evaluation. A personal genetics knowledge score was developed and predictors of personal genetics knowledge score were evaluated. Sixty-four physicians (33% male) completed the survey. Fifty-eight percent of them had used genetic testing in their clinical practice. Using a 4-point scale, mean knowledge scores of six common genetic testing techniques ranged from 1.7 ± 0.9 to 2.4 ± 1.0, and the average personal genetics knowledge score was 2.1 ± 0.8. In regression analysis, significant predictors of higher personal genetics knowledge score were ordering of genetic testing, utilization of pedigrees, higher medical degree, and recent genetics training (P education. This study demonstrated a sizable gap between Chinese physicians' knowledge and utilization of genetic testing. Participants had high self-perceived genetics educational needs. Development of genetics educational platforms is both warranted and desired in China.Genet Med 17 9, 757-760.

  4. Exome sequencing and genetic testing for MODY.

    Directory of Open Access Journals (Sweden)

    Stefan Johansson

    Full Text Available Genetic testing for monogenic diabetes is important for patient care. Given the extensive genetic and clinical heterogeneity of diabetes, exome sequencing might provide additional diagnostic potential when standard Sanger sequencing-based diagnostics is inconclusive.The aim of the study was to examine the performance of exome sequencing for a molecular diagnosis of MODY in patients who have undergone conventional diagnostic sequencing of candidate genes with negative results.We performed exome enrichment followed by high-throughput sequencing in nine patients with suspected MODY. They were Sanger sequencing-negative for mutations in the HNF1A, HNF4A, GCK, HNF1B and INS genes. We excluded common, non-coding and synonymous gene variants, and performed in-depth analysis on filtered sequence variants in a pre-defined set of 111 genes implicated in glucose metabolism.On average, we obtained 45 X median coverage of the entire targeted exome and found 199 rare coding variants per individual. We identified 0-4 rare non-synonymous and nonsense variants per individual in our a priori list of 111 candidate genes. Three of the variants were considered pathogenic (in ABCC8, HNF4A and PPARG, respectively, thus exome sequencing led to a genetic diagnosis in at least three of the nine patients. Approximately 91% of known heterozygous SNPs in the target exomes were detected, but we also found low coverage in some key diabetes genes using our current exome sequencing approach. Novel variants in the genes ARAP1, GLIS3, MADD, NOTCH2 and WFS1 need further investigation to reveal their possible role in diabetes.Our results demonstrate that exome sequencing can improve molecular diagnostics of MODY when used as a complement to Sanger sequencing. However, improvements will be needed, especially concerning coverage, before the full potential of exome sequencing can be realized.

  5. Attitudes and Practices Among Internists Concerning Genetic Testing

    Science.gov (United States)

    Chung, Wendy; Marder, Karen; Shanmugham, Anita; Chin, Lisa J.; Stark, Meredith; Leu, Cheng-Shiun; Appelbaum, Paul S.

    2012-01-01

    Many questions remain concerning whether, when, and how physicians order genetic tests, and what factors are involved in their decisions. We surveyed 220 internists from two academic medical centers about their utilization of genetic testing. Rates of genetic utilizations varied widely by disease. Respondents were most likely to have ordered tests for Factor V Leiden (16.8%), followed by Breast/Ovarian Cancer (15.0%). In the past 6 months, 65% had counseled patients on genetic issues, 44% had ordered genetic tests, 38.5% had referred patients to a genetic counselor or geneticist, and 27.5% had received ads from commercial labs for genetic testing. Only 4.5% had tried to hide or disguise genetic information, and genetic discrimination. Only 53.4% knew of a geneticist/genetic counselor to whom to refer patients. Most rated their knowledge as very/somewhat poor concerning genetics (73.7%) and guidelines for genetic testing (87.1%). Most felt needs for more training on when to order tests (79%), and how to counsel patients (82%), interpret results (77.3%), and maintain privacy (80.6%). Physicians were more likely to have ordered a genetic test if patients inquired about genetic testing (pgenetic counselor to whom to refer patients (pgenetic counselor in the past 6 months, had more comfort counseling patients about testing (pgenetics, larger practices (pgenetic discrimination (pgenetic test was associated with patients inquiring about testing, having referred patients to a geneticist/genetic counselor and knowing how to order tests., These data suggest that physicians recognize their knowledge deficits, and are interested in training. These findings have important implications for future medical practice, research, and education. PMID:22585186

  6. [Issues on business of genetic testing in near future].

    Science.gov (United States)

    Takada, Fumio

    2009-06-01

    Since 1990's, a business condition that company sells genetic testing services directly to consumers without through medical facility, so called "direct-to-consumers (DTC) genetic testing", has risen. They provide genetic testing for obesity, disease susceptibility or paternity, etc. There are serious problems in this kind of business. Most of the providers do not make sales with face-to-face selling, and do through internet instead. They do not provide genetic counseling by certified genetic counselor or clinical geneticist. Most DTC genetic testing services for disease susceptibility or predispositions including obesity, lack scientific validity, clinical validity and clinical utility. And also including paternity genetic testing, they all have risks of ethical legal and social issues (ELSI) in genetic discrimination and/or eugenics. The specific problem in Japan is that the healthcare section of the government still has not paid attention and not taken seriously the requirement to deploy safety net.

  7. Preliminary Design of a LSA Aircraft Using Wind Tunnel Tests

    Directory of Open Access Journals (Sweden)

    Norbert ANGI

    2015-12-01

    Full Text Available This paper presents preliminary results concerning the design and aerodynamic calculations of a light sport aircraft (LSA. These were performed for a new lightweight, low cost, low fuel consumption and long-range aircraft. The design process was based on specific software tools as Advanced Aircraft Analysis (AAA, XFlr 5 aerodynamic and dynamic stability analysis, and Catia design, according to CS-LSA requirements. The calculations were accomplished by a series of tests performed in the wind tunnel in order to assess experimentally the aerodynamic characteristics of the airplane.

  8. Genetic testing and counselling in inherited eye disease

    DEFF Research Database (Denmark)

    Brøndum-Nielsen, Karen; Jensen, Hanne; Timshel, Susanne

    2013-01-01

    Advances in genetics have made genetic testing in patients with inherited eye disease increasingly accessible, and the initiation of clinical intervention trials makes it increasingly clinically relevant. Based on a multidisciplinary collaboration between ophthalmologists and clinical geneticists...

  9. Reliability of genetic bottleneck tests for detecting recent population declines

    NARCIS (Netherlands)

    Peery, M. Zachariah; Kirby, Rebecca; Reid, Brendan N.; Stoelting, Ricka; Doucet-Beer, Elena; Robinson, Stacie; Vasquez-Carrillo, Catalina; Pauli, Jonathan N.; Palsboll, Per J.

    The identification of population bottlenecks is critical in conservation because populations that have experienced significant reductions in abundance are subject to a variety of genetic and demographic processes that can hasten extinction. Genetic bottleneck tests constitute an appealing and

  10. Preliminary Test on Hydraulic Rotation Device for Neutron Transmutation Doping

    International Nuclear Information System (INIS)

    Park, Ki-Jung; Kang, Han-Ok; Kim, Seong Hoon; Park, Cheol

    2014-01-01

    The Korea Atomic Energy Research Institute (KAERI) is developing a new Research Reactor (KJRR) which will be located at KIJANG in the south-eastern province of Korea. The KJRR will be mainly utilized for isotope production, NTD production, and the related research activities. During the NTD process, the irradiation rig containing the silicon ingot rotates at the constant speed to ensure precisely defined homogeneity of the irradiation. A new NTD Hydraulic Rotation Device (NTDHRD) is being developed to rotate the irradiation rigs at the required speed. In this study, the preliminary test and the analysis for the rotation characteristic of the NTDHRD, which is developed through the conceptual design, are described. A new NTD hydraulic rotation device is being developed for the purpose of application to the KIJANG research reactor (KJRR). The preliminary test and analysis for the rotation characteristic of the NTDHRD, which is developed through the conceptual design, are conducted in experimental apparatus. The film thickness by the thrust bearing is measured and the minimum required mass flow rate for stable rotation is determined

  11. Preliminary observations of gate valve flow interruption tests, Phase 2

    International Nuclear Information System (INIS)

    Steele, R. Jr.; DeWall, K.G.

    1990-01-01

    This paper presents preliminary observations from the US Nuclear Regulatory Commission/Idaho National Engineering Laboratory Flexible Wedge Gate Valve Qualification and Flow Interruption Test Program, Phase 2. The program investigated the ability of selected boiling water reactor (BWR) process line valves to perform their containment isolation function at high energy pipe break conditions and other more normal flow conditions. The fluid and valve operating responses were measured to provide information concerning valve and operator performance at various valve loadings so that the information could be used to assess typical nuclear industry motor operator sizing equations. Six valves were tested, three 6-in. isolation valves representative of those used in reactor water cleanup systems in BWRs and three 10-in. isolation valves representative of those used in BWR high pressure coolant injection (HPCI) steam lines. The concern with these normally open isolation valves is whether they will close in the event of a downstream pipe break outside of containment. The results of this testing will provide part of the technical insights for NRC efforts regarding Generic Issue 87 (GI-87), Failure of the HPCI Steam Line Without Isolation, which includes concerns about the uncertainties in gate valve motor operator sizing and torque switch settings for these BWR containment isolation valves. As of this writing, the Phase 2 test program has just been completed. Preliminary observations made in the field confirmed most of the results from the Phase 1 test program. All six valves closing in high energy water, high energy steam, and high pressure cold water require more force to close than would be calculated using the typical variables in the standard industry motor operator sizing equations

  12. Preliminary Structural Design Using Topology Optimization with a Comparison of Results from Gradient and Genetic Algorithm Methods

    Science.gov (United States)

    Burt, Adam O.; Tinker, Michael L.

    2014-01-01

    In this paper, genetic algorithm based and gradient-based topology optimization is presented in application to a real hardware design problem. Preliminary design of a planetary lander mockup structure is accomplished using these methods that prove to provide major weight savings by addressing the structural efficiency during the design cycle. This paper presents two alternative formulations of the topology optimization problem. The first is the widely-used gradient-based implementation using commercially available algorithms. The second is formulated using genetic algorithms and internally developed capabilities. These two approaches are applied to a practical design problem for hardware that has been built, tested and proven to be functional. Both formulations converged on similar solutions and therefore were proven to be equally valid implementations of the process. This paper discusses both of these formulations at a high level.

  13. Understanding the impact of genetic testing for inherited retinal dystrophy.

    Science.gov (United States)

    Combs, Ryan; McAllister, Marion; Payne, Katherine; Lowndes, Jo; Devery, Sophie; Webster, Andrew R; Downes, Susan M; Moore, Anthony T; Ramsden, Simon; Black, Graeme; Hall, Georgina

    2013-11-01

    The capability of genetic technologies is expanding rapidly in the field of inherited eye disease. New genetic testing approaches will deliver a step change in the ability to diagnose and extend the possibility of targeted treatments. However, evidence is lacking about the benefits of genetic testing to support service planning. Here, we report qualitative data about retinal dystrophy families' experiences of genetic testing in United Kingdom. The data were part of a wider study examining genetic eye service provision. Twenty interviewees from families in which a causative mutation had been identified by a genetic eye clinic were recruited to the study. Fourteen interviewees had chosen to have a genetic test and five had not; one was uncertain. In-depth telephone interviews were conducted allowing a thorough exploration of interviewees' views and experiences of the benefits of genetic counselling and testing. Transcripts were analysed using thematic analysis. Both affected and unaffected interviewees expressed mainly positive views about genetic testing, highlighting benefits such as diagnostic confirmation, risk information, and better preparation for the future. Negative consequences included the burden of knowledge, moral dilemmas around reproduction, and potential impact on insurance. The offer of genetic testing was often taken up, but was felt unnecessary in some cases. Interviewees in the study reported many benefits, suggesting genetic testing should be available to this patient group. The benefits and risks identified will inform future evaluation of models of service delivery. This research was part of a wider study exploring experiences of families with retinal dystrophy.

  14. "Genetic exceptionalism" in medicine: clarifying the differences between genetic and nongenetic tests.

    Science.gov (United States)

    Green, Michael J; Botkin, Jeffrey R

    2003-04-01

    Predictive genetic tests are now available for assessing susceptibility to a variety of conditions, including breast and colon cancer, hemochromatosis, and Alzheimer and Huntington disease. Much controversy surrounds the application of these tests, stemming from their similarities to and differences from other tests commonly used in asymptomatic persons. Some have argued that genetic tests are unique and therefore justify special consideration with regard to informed consent and privacy. This paper examines the arguments for such "genetic exceptionalism" and concludes that no clear, significant distinctions between genetic and nongenetic tests justify a different approach to testing by clinicians. Nevertheless, with many genetic tests, the results may cause stigmatization, family discord, and psychological distress. Regardless of whether a test is genetic, when this combination of characteristics is present and when health care providers are not specifically trained to interpret results, testing should be performed with particular caution and the highest standards of informed consent and privacy protection should be applied.

  15. Preliminary site design for the SP-100 ground engineering test

    International Nuclear Information System (INIS)

    Cox, C.M.; Miller, W.C.; Mahaffey, M.K.

    1986-04-01

    In November, 1985, Hanford was selected by the Department of Energy (DOE) as the preferred site for a full-scale test of the integrated nuclear subsystem for SP-100. The Hanford Engineering Development Laboratory, operated by Westinghouse Hanford Company, was assigned as the lead contractor for the Test Site. The nuclear subsystem, which includes the reactor and its primary heat transport system, will be provided by the System Developer, another contractor to be selected by DOE in late FY-1986. In addition to reactor operations, test site responsibilities include preparation of the facility plus design, procurement and installation of a vacuum chamber to house the reactor, a secondary heat transport system to dispose of the reactor heat, a facility control system, and postirradiation examination. At the conclusion of the test program, waste disposal and facility decommissioning are required. The test site must also prepare appropriate environmental and safety evaluations. This paper summarizes the preliminary design requirements, the status of design, and plans to achieve full power operation of the test reactor in September, 1990

  16. Genetic testing in inherited polyposis syndromes - how and why?

    Science.gov (United States)

    Lee, G H; Payne, S J; Melville, A; Clark, S K

    2014-08-01

    There have been recent advances in genetic testing enabling accurate diagnosis of polyposis syndromes by identifying causative gene mutations, which is essential in the management of individuals with polyposis syndrome and predictive genetic testing of their extended families. There are some similarities in clinical presentation of various polyposis syndromes, which may pose a challenge to diagnosis. In this review, we discuss the clinical presentation of the main polyposis syndromes and the process of genetic testing, including the latest advancement and future of genetic testing. We aim to reiterate the importance of genetic testing in the management of polyposis syndromes, potential pitfalls associated with genetic testing and recommendations for healthcare professionals involved with the care of polyposis patients. Colorectal Disease © 2014 The Association of Coloproctology of Great Britain and Ireland.

  17. Commercial Genetic Testing and Its Governance in Chinese Society

    Science.gov (United States)

    Sui, Suli; Sleeboom-Faulkner, Margaret

    2015-01-01

    This paper provides an empirical account of commercial genetic testing in China. Commercial predictive genetic testing has emerged and is developing rapidly in China, but there is no strict and effective governance. This raises a number of serious social and ethical issues as a consequence of the enormous potential market for such tests. The paper…

  18. The psychological impact of genetic testing on parents.

    Science.gov (United States)

    Dinc, Leyla; Terzioglu, Fusun

    2006-01-01

    The aim of this descriptive study was to explore the psychological impact of genetic testing on parents whose children have been referred for genetic testing. Genetic tests enable individuals to be informed about their health status and to have the opportunity of early diagnosis and treatment of their diseases. However undergoing genetic testing and receiving a positive test result may also cause stress and anxiety. This descriptive study was carried out at the genetic departments of two university hospitals in Ankara. The sample of this study consisted of 128 individuals whose children have been referred for chromosomal analysis. Data were collected through using a semi-structured interview method with a data collection form and the anxiety inventory and analysed using the percentages and independent samples t-test. The majority of our participants experienced distress before genetic testing. Their general trait anxiety score before receiving the test results was 47.38, and following the test results the state anxiety score was 50.65. Having a previous child with an abnormality, a positive test result, and being a mother elevated the anxiety of individuals. This paper supports the findings of previous studies, which indicated that genetic test results might lead to anxiety in individuals and reveals the importance of genetic counselling. As the results of this study indicated, genetic testing causes distress and anxiety in individuals. Nurses can play an important role in minimizing anxiety of parents whose children undergo genetic testing by providing information about genetic testing and by taking part in the counselling process.

  19. Direct-to-consumer genetic testing: To test or not to test, that is the ...

    African Journals Online (AJOL)

    significant resources that have been invested in basic biomedical .... knowledge, could be misled into thinking that genetic testing can be done for any .... strands of hair, bubble gum or cigarette butts. .... Lesage S, Ibanez P, Lohmann E, et al.

  20. Improving Molecular Genetic Test Utilization through Order Restriction, Test Review, and Guidance.

    Science.gov (United States)

    Riley, Jacquelyn D; Procop, Gary W; Kottke-Marchant, Kandice; Wyllie, Robert; Lacbawan, Felicitas L

    2015-05-01

    The ordering of molecular genetic tests by health providers not well trained in genetics may have a variety of untoward effects. These include the selection of inappropriate tests, the ordering of panels when the assessment of individual or fewer genes would be more appropriate, inaccurate result interpretation and inappropriate patient guidance, and significant unwarranted cost expenditure. We sought to improve the utilization of molecular genetic tests by requiring providers without specialty training in genetics to use genetic counselors and molecular genetic pathologists to assist in test selection. We used a genetic and genomic test review process wherein the laboratory-based genetic counselor performed the preanalytic assessment of test orders and test triage. Test indication and clinical findings were evaluated against the test panel composition, methods, and test limitations under the supervision of the molecular genetic pathologist. These test utilization management efforts resulted in a decrease in genetic test ordering and a gross cost savings of $1,531,913 since the inception of these programs in September 2011 through December 2013. The combination of limiting the availability of complex genetic tests and providing guidance regarding appropriate test strategies is an effective way to improve genetic tests, contributing to judicious use of limited health care resources. Copyright © 2015 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

  1. Results of Preliminary Tests of PAR Bunch Cleaning

    CERN Document Server

    Yao, Chihyuan; Grelick, Arthur; Lumpkin, Alex H; Sereno, Nicholas S

    2005-01-01

    A particle accumulator ring (PAR) is used at the Advanced Photon Source (APS) to collect multiple linac bunches and compress them into a 0.3-ns (rms) single bunch for booster injection. A 9.77-MHz fundamental rf system and a 117.3-MHz harmonic rf system are employed for initial beam capture and bunch length compression. Satellite bunches with very low charge form due to rf phase drifts or beam loading change. These satellites, when injected into the booster and then into the storage ring (SR), cause bunch impurity at three buckets from the target bucket. Storage ring and booster bunch cleaning was tried but proved to be difficult due to the top-up mode of operation in the storage ring and tune drift in the booster synchrotron. Recently we implemented a PAR bunch-cleaning system with tune-modulated harmonic rf knockout. Preliminary tests gave a measured SR bunch purity of better than 10

  2. Evaluation of high pressure Freon decontamination. I. Preliminary tests

    International Nuclear Information System (INIS)

    Rankin, W.N.

    1983-01-01

    High-pressure Freon blasting techniques are being evaluated for applications involving the removal of non-adherent radioactive particulate contamination at SRP. Very little waste is generated by this technique because the used Freon can be easily distilled and reused. One of the principle advantages of this technique is that decontaminated electrical equipment can be returned to service immediately without drying, unlike high-pressure water blasting techniques. Preliminary scoutin tests evaluating high-pressure Freon blasting for decontamination at SRP were carried out at Quadrex Co., Oak Ridge, TN, October 12 and 13. DWPF-type contamination (raw sludge plus volatiles) and separations area-type contamination (diluted boiling point (47.6 0 C) allow it to rapidly separate from higher boiling contaminants via distillation with filtration to remove particulate material, and distillation with condensation, the solvent may be recovered for indefinite reuse while reducing the radioactive waste to a minimum. 3 references, 5 figures, 6 tables

  3. Modeling and Testing of EVs - Preliminary Study and Laboratory Development

    DEFF Research Database (Denmark)

    Yang, Guang-Ya; Marra, Francesco; Nielsen, Arne Hejde

    2010-01-01

    Electric vehicles (EVs) are expected to play a key role in the future energy management system to stabilize both supply and consumption with the presence of high penetration of renewable generation. A reasonably accurate model of battery is a key element for the study of EVs behavior and the grid...... tests, followed by the suggestions towards a feasible battery model for further studies.......Electric vehicles (EVs) are expected to play a key role in the future energy management system to stabilize both supply and consumption with the presence of high penetration of renewable generation. A reasonably accurate model of battery is a key element for the study of EVs behavior and the grid...... impact at different geographical areas, as well as driving and charging patterns. Electric circuit model is deployed in this work to represent the electrical properties of a lithium-ion battery. This paper reports the preliminary modeling and validation work based on manufacturer data sheet and realistic...

  4. Seismic proving test of ultimate piping strength (current status of preliminary tests)

    International Nuclear Information System (INIS)

    Suzuki, K.; Namita, Y.; Abe, H.; Ichihashi, I.; Suzuki, K.; Ishiwata, M.; Fujiwaka, T.; Yokota, H.

    2001-01-01

    In 1998 Fiscal Year, the 6 year program of piping tests was initiated with the following objectives: i) to clarify the elasto-plastic response and ultimate strength of nuclear piping, ii) to ascertain the seismic safety margin of the current seismic design code for piping, and iii) to assess new allowable stress rules. In order to resolve extensive technical issues before proceeding on to the seismic proving test of a large-scale piping system, a series of preliminary tests of materials, piping components and simplified piping systems is intended. In this paper, the current status of the material tests and the piping component tests is reported. (author)

  5. [New visual field testing possibilities (a preliminary report)].

    Science.gov (United States)

    Erichev, V P; Ermolaev, A P; Antonov, A A; Grigoryan, G L; Kosova, D V

    2018-01-01

    There are currently no portable mobile perimeters that allow visual field testing outside ophthalmologist's examination rooms. To develop a mobile perimetry technique based on use of a virtual reality headset (VR). The study involved 26 patients (30 eyes) with II-III stage primary open-angle glaucoma (POAG) with compensated IOP. Perimetry was performed for each patient twice - on Humphrey analyzer (test 30-2, 76 points) and employing similar strategy on a perimeter integrated into VR headset (Total Vision, Russia). Visual field testing was performed with an interval from 1 hour to 3 days. The results were comparatively analyzed. Patients tolerated the examination well. Comparative analysis of preliminary perimetry results obtained with both methods showed high degree of identity, so the results were concluded to be comparable. By visually isolating the wearer, VR headset achieves elimination of distractions and stable light conditions for visual field testing. The headset-perimeter is compact, mobile, easily transportable, can be used in the work of visiting medical teams and for examination at home.

  6. Preliminary Beam Irradiation Test for RI Production Targets at KOMAC

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Sang Pil; Kwon, Hyeok Jung; Kim, Han Sung; Cho, Yong Sub; Seol, Kyung Tae; Song, Young Gi; Kim, Dae Il; Jung, Myung Hwan; Kim, Kye Ryung; Min, Yi Sub [KAERI, Daejeon (Korea, Republic of)

    2016-05-15

    The new beamline and target irradiation facility has been constructed for the production of therapeutic radio-isotope. Sr-82 and Cu-67 were selected as the target isotope in this facility, they are promising isotope for the PET imaging and cancer therapy. For the facility commissioning, the irradiation test for the prototype-target was conducted to confirm the feasibility of radio-isotope production, the proto-type targets are made of RbCl pellet and the natural Zn metal for Sr-82 and Cu-67 production respectively, In this paper, an introduction to the RI production targetry system and the results of the preliminary beam irradiation test are discussed. the low-flux beam irradiation tests for proto-type RI target have been conducted. As a result of the beam irradiation tests, we could obtain the evidence of Sr-82 and Cu-67 production, have confirmed the feasibility of Sr-82 and Cu-67 production at KOMAC RI production facility.

  7. Preliminary Beam Irradiation Test for RI Production Targets at KOMAC

    International Nuclear Information System (INIS)

    Yoon, Sang Pil; Kwon, Hyeok Jung; Kim, Han Sung; Cho, Yong Sub; Seol, Kyung Tae; Song, Young Gi; Kim, Dae Il; Jung, Myung Hwan; Kim, Kye Ryung; Min, Yi Sub

    2016-01-01

    The new beamline and target irradiation facility has been constructed for the production of therapeutic radio-isotope. Sr-82 and Cu-67 were selected as the target isotope in this facility, they are promising isotope for the PET imaging and cancer therapy. For the facility commissioning, the irradiation test for the prototype-target was conducted to confirm the feasibility of radio-isotope production, the proto-type targets are made of RbCl pellet and the natural Zn metal for Sr-82 and Cu-67 production respectively, In this paper, an introduction to the RI production targetry system and the results of the preliminary beam irradiation test are discussed. the low-flux beam irradiation tests for proto-type RI target have been conducted. As a result of the beam irradiation tests, we could obtain the evidence of Sr-82 and Cu-67 production, have confirmed the feasibility of Sr-82 and Cu-67 production at KOMAC RI production facility

  8. Preliminary data evaluation for thermal insulation characterization testing

    International Nuclear Information System (INIS)

    DeClue, J.F.; Moses, S.D.; Tollefson, D.A.

    1991-01-01

    The purpose of Thermal Insulation Characterization Testing is to provide physical data to support certain assumptions and calculational techniques used in the criticality safety calculations in Section 6 of the Safety Analysis Reports for Packaging (SARPs) for drum-type packaging for Department of Energy's (DOE) Oak Ridge Y-12 Plant, managed by Martin Marietta Energy Systems, Inc. Results of preliminary data evaluation regarding the fire-test condition reveal that realistic weight loss consideration and residual material characterization in developing calculational models for the hypothetical accident condition is necessary in order to prevent placement of unduly conservative restrictions on shipping requirements as a result of overly conservative modeling. This is particularly important for fast systems. Determination of the geometric arrangement of residual material is of secondary importance. Both the methodology used to determine the minimum thermal insulation mass remaining after the fire test and the treatment of the thermal insulation in the criticality safety calculational models requires additional evaluation. Specific testing to be conducted will provide experimental data with which to validate the mass estimates and calculational modeling techniques for extrapolation to generic drum-type containers

  9. Genetic testing in the workplace: the employer's coin toss.

    Science.gov (United States)

    French, Samantha

    2002-09-05

    A toss of the coin by the modern-day employer reveals two options regarding genetic testing in the workplace. The employer may choose to take advantage of increasingly precise, available, and affordable genetic testing in order to ascertain the genetic characteristics--and deficiencies--of its employees. This outcome exposes the employer to a vast array of potential litigation and liability relating to the Americans with Disabilities Act, the Fourth Amendment, Title VII of the Civil Rights Act, and state legislation designed to protect genetic privacy. Alternatively, the employer may neglect to indulge in this trend of genetic testing and may face liability for employer negligence, violations of federal legislation such as OSHA regulations, and increased costs associated with insuring the health of genetically endangered employees. In the rapidly developing universe of genetic intelligence, the employer is faced with a staggering dilemma.

  10. The genetic variability of the Podolica cattle breed from the Gargano area. Preliminary results

    Directory of Open Access Journals (Sweden)

    Dario Cianci

    2010-01-01

    Full Text Available The Podolica cattle breed is autochthonous of Southern Italy and denoted by its particular rusticity. This study presents the preliminary results of the genetic characterization of the Podolica breed using DNA STR markers. A total of 20 microsatellite loci were analysed in 79 individuals reared in the Gargano area. Number of polymorphisms, allele fre- quencies, deviations from Hardy-Weinberg proportions, linkage disequilibrium between loci and genetic similarities between animals were calculated. The results showed a high deficiency of heterozygotes, the observed mean of het- erozygosis being 0.449, whereas the expected mean was 0.766. Many markers showed also deviations from the Hardy- Weinberg proportions and significant linkage disequilibrium between loci. However the genetic similarity within the pop- ulation was low (0.281 and the average number of alleles per locus was high (10, representing a high genetic vari- ability. In order to explain these results, a stratification of the breed in sub-populations with a high interior genetic homo- geneity but markedly differentiated one from each other could be hypothesized; this situation probably derived from non- random mating within each herd (consanguinity and from the lack of exchange of genetic material between the herds. A further study is needed on a wider sample and extending the analysis to FAO-ISAG microsatellite panel in order to con- firm this hypothesis. This could eventually provide the information necessary for the correct management of the repro- ductive schemes and for genomic traceability of meat production.

  11. Perceived genetic knowledge, attitudes towards genetic testing, and the relationship between these among patients with a chronic disease

    NARCIS (Netherlands)

    Morren, M.; Rijken, M.; Baanders, A.N.; Bensing, J.

    2007-01-01

    Objective: Genetics increasingly permeate everyday medicine. When patients want to make informed decisions about genetic testing, they require genetic knowledge. This study examined the genetic knowledge and attitudes of patients with chronic diseases, and the relationship between both. In addition,

  12. Perceived genetic knowledge, attitudes toward genetic testing, and the relationship between these among patients with a chronic disease.

    NARCIS (Netherlands)

    Morren, M.; Rijken, M.; Baanders, A.N.; Bensing, J.

    2007-01-01

    OBJECTIVE: Genetics increasingly permeate everyday medicine. When patients want to make informed decisions about genetic testing, they require genetic knowledge. This study examined the genetic knowledge and attitudes of patients with chronic diseases, and the relationship between both. In addition,

  13. Frequently Asked Questions about Genetic Testing

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  14. Genetic testing for clinically suspected spinocerebellar ataxias ...

    Indian Academy of Sciences (India)

    Mahesh

    Research Article. Genetic ... Melbourne, Australia and Department of Animal Science, School of Life .... The patients were assessed according to the International Cooperative Ataxia Rating ..... The Indian Journal of Medical Research 126(5):.

  15. Ancestry Testing and the Practice of Genetic Counseling.

    Science.gov (United States)

    Kirkpatrick, Brianne E; Rashkin, Misha D

    2017-02-01

    Ancestry testing is a home DNA test with many dimensions; in some cases, the implications and outcomes of testing cross over into the health sphere. Common reasons for seeking ancestry testing include determining an estimate of customer's ethnic background, identifying genetic relatives, and securing a raw DNA data file that can be used for other purposes. As the ancestry test marketplace continues to grow, and third-party vendors empower the general public to analyze their own genetic material, the role of the genetic counselor is likely to evolve dramatically. Roles of the genetic counselor may include assisting clients with the interpretation of and adaptation to these results, as well as advising the companies involved in this sector on the ethical, legal, and social issues associated with testing. This paper reviews the history, fundamentals, intended uses, and unintended consequences of ancestry genetic testing. It also discusses the types of information in an ancestry testing result, situations that might involve a clinical genetic counselor, and the benefits, limitations, and functions that ancestry genetic testing can play in a clinical genetics setting.

  16. Population genetic testing for cancer susceptibility: founder mutations to genomes.

    Science.gov (United States)

    Foulkes, William D; Knoppers, Bartha Maria; Turnbull, Clare

    2016-01-01

    The current standard model for identifying carriers of high-risk mutations in cancer-susceptibility genes (CSGs) generally involves a process that is not amenable to population-based testing: access to genetic tests is typically regulated by health-care providers on the basis of a labour-intensive assessment of an individual's personal and family history of cancer, with face-to-face genetic counselling performed before mutation testing. Several studies have shown that application of these selection criteria results in a substantial proportion of mutation carriers being missed. Population-based genetic testing has been proposed as an alternative approach to determining cancer susceptibility, and aims for a more-comprehensive detection of mutation carriers. Herein, we review the existing data on population-based genetic testing, and consider some of the barriers, pitfalls, and challenges related to the possible expansion of this approach. We consider mechanisms by which population-based genetic testing for cancer susceptibility could be delivered, and suggest how such genetic testing might be integrated into existing and emerging health-care structures. The existing models of genetic testing (including issues relating to informed consent) will very likely require considerable alteration if the potential benefits of population-based genetic testing are to be fully realized.

  17. Thick Concrete Specimen Construction, Testing, and Preliminary Analysis

    Energy Technology Data Exchange (ETDEWEB)

    Clayton, Dwight A. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Hoegh, Kyle [Univ. of Minnesota, Minneapolis, MN (United States); Khazanovich, Lev [Univ. of Minnesota, Minneapolis, MN (United States)

    2015-03-01

    The purpose of the U.S. Department of Energy Office of Nuclear Energy’s Light Water Reactor Sustainability (LWRS) Program is to develop technologies and other solutions that can improve the reliability, sustain the safety, and extend the operating lifetimes of nuclear power plants (NPPs) beyond 60 years. Since many important safety structures in an NPP are constructed of concrete, inspection techniques must be developed and tested to evaluate the internal condition. In-service containment structures generally do not allow for the destructive measures necessary to validate the accuracy of these inspection techniques. This creates a need for comparative testing of the various nondestructive evaluation (NDE) measurement techniques on concrete specimens with known material properties, voids, internal microstructure flaws, and reinforcement locations. A preliminary report detailed some of the challenges associated with thick reinforced concrete sections and prioritized conceptual designs of specimens that could be fabricated to represent NPP concrete structures for using in NDE evaluation comparisons. This led to the construction of the concrete specimen presented in this report, which has sufficient reinforcement density and cross-sectional size to represent an NPP containment wall. Details on how a suitably thick concrete specimen was constructed are presented, including the construction materials, final nominal design schematic, as well as formwork and rigging required to safely meet the desired dimensions of the concrete structure. The report also details the type and methods of forming the concrete specimen as well as information on how the rebar and simulated defects were embedded. Details on how the resulting specimen was transported, safely anchored, and marked to allow access for systematic comparative NDE testing of defects in a representative NPP containment wall concrete specimen are also given. Data collection using the MIRA Ultrasonic NDE equipment and

  18. Acceptance of genetic testing in a general population

    DEFF Research Database (Denmark)

    Aro, A R; Hakonen, A; Hietala, M

    1997-01-01

    in favour of mandatory genetic testing than other respondents. Respondents with university education were more critical towards genetic testing and expressed their worry about eugenics more often than other education groups. In conclusion, there are age, education and gender related differences...

  19. Implementation and utilization of genetic testing in personalized medicine

    Directory of Open Access Journals (Sweden)

    Abul-Husn NS

    2014-08-01

    Full Text Available Noura S Abul-Husn,1,* Aniwaa Owusu Obeng,2,3,* Saskia C Sanderson,1 Omri Gottesman,2 Stuart A Scott11Department of Genetics and Genomic Sciences, 2The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, 3Department of Pharmacy, Mount Sinai Hospital, New York, NY, USA*These authors contributed equally to this manuscriptAbstract: Clinical genetic testing began over 30 years ago with the availability of mutation detection for sickle cell disease diagnosis. Since then, the field has dramatically transformed to include gene sequencing, high-throughput targeted genotyping, prenatal mutation detection, preimplantation genetic diagnosis, population-based carrier screening, and now genome-wide analyses using microarrays and next-generation sequencing. Despite these significant advances in molecular technologies and testing capabilities, clinical genetics laboratories historically have been centered on mutation detection for Mendelian disorders. However, the ongoing identification of deoxyribonucleic acid (DNA sequence variants associated with common diseases prompted the availability of testing for personal disease risk estimation, and created commercial opportunities for direct-to-consumer genetic testing companies that assay these variants. This germline genetic risk, in conjunction with other clinical, family, and demographic variables, are the key components of the personalized medicine paradigm, which aims to apply personal genomic and other relevant data into a patient's clinical assessment to more precisely guide medical management. However, genetic testing for disease risk estimation is an ongoing topic of debate, largely due to inconsistencies in the results, concerns over clinical validity and utility, and the variable mode of delivery when returning genetic results to patients in the absence of traditional counseling. A related class of genetic testing with analogous issues of clinical utility and

  20. Preliminary design studies on the Broad Application Test Reactor

    International Nuclear Information System (INIS)

    Terry, W.J.; Terry, W.K.; Ryskamp, J.M.; Jahshan, S.N.; Fletcher, C.D.; Moore, R.L.; Leyse, C.F.; Ottewitte, E.H.; Motloch, C.G.; Lacy, J.M.

    1992-08-01

    This report describes progress made at the Idaho National Engineering Laboratory during the first three quarters of Fiscal Year (FY) 1992 on the Laboratory-Directed Research and Development (LDRD) project to perform preliminary design studies on the Broad Application Test Reactor (BATR). This work builds on the FY-92 BATR studies, which identified anticipated mission and safety requirements for BATR and assessed a variety of reactor concepts for their potential capability to meet those requirements. The main accomplishment of the FY-92 BATR program is the development of baseline reactor configurations for the two conventional conceptual test reactors recommended in the FY-91 report. Much of the present report consists of descriptions and neutronics and thermohydraulics analyses of these baseline configurations. In addition, we considered reactor safety issues, compared the consequences of steam explosions for alternative conventional fuel types, explored a Molten Chloride Fast Reactor concept as an alternate BATR design, and examined strategies for the reduction of operating costs. Work planned for the last quarter of FY-92 is discussed, and recommendations for future work are also presented

  1. Preliminary analysis of accelerated space flight ionizing radiation testing

    Science.gov (United States)

    Wilson, J. W.; Stock, L. V.; Carter, D. J.; Chang, C. K.

    1982-01-01

    A preliminary analysis shows that radiation dose equivalent to 30 years in the geosynchronous environment can be accumulated in a typical composite material exposed to space for 2 years or less onboard a spacecraft orbiting from perigee of 300 km out to the peak of the inner electron belt (approximately 2750 km). Future work to determine spacecraft orbits better tailored to materials accelerated testing is indicated. It is predicted that a range of 10 to the 9th power to 10 to the 10th power rads would be accumulated in 3-6 mil thick epoxy/graphite exposed by a test spacecraft orbiting in the inner electron belt. This dose is equivalent to the accumulated dose that this material would be expected to have after 30 years in a geosynchronous orbit. It is anticipated that material specimens would be brought back to Earth after 2 years in the radiation environment so that space radiation effects on materials could be analyzed by laboratory methods.

  2. Preliminary Design Progress of the HCCR TBM for ITER testing

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Dong Won; Park, Sung Dae; Kim, Dong Jun; Jin, Hyung Gon [Korea Atomic Energy Research Institute, Daejeon (Korea, Republic of); Ahn, Mu-Young [National Fusion Research Institute, Daejeon (Korea, Republic of)

    2016-10-15

    Korea has designed a helium cooled ceramic reflector (HCCR) test blanket module (TBM) including the TBM-shield, which is called the TBM-set, to be tested in ITER, a Nuclear Facility INB-174. Through the conceptual design review (CDR), its design integrity was successfully demonstrated at the conceptual design level at various loads. After CD approval, preliminary design (PD) was started and the progress is introduced in the present study. After PD review and approval, final design and then fabrication will be started. The main purpose of PD is to design the TBM-set according to the fabrication aspect and more detailed design for interfaces with ITER machine, such as installed TBM port plug and frame. With these considering, PD of TBM-set was started. PD for HCCR TBM has been performed (so far v0.24) from the CD model. FW, BZ, SW, TES/NAS, BM, and connecting support design were performed through the analyses, if necessary. The manufacturability was the main concern for PD model development. Thermal hydraulic analysis will be performed to evaluate the temperature and pressure drop in TBM-set. The structural integrity of TBM-set will be confirmed with combined various loads condition.

  3. WHO HAS TO UNDERGO CANCER GENETIC TESTING? A PERSPECTIVE.

    Directory of Open Access Journals (Sweden)

    Carmen Rinaldi

    2017-10-01

    Full Text Available Genetic testing is a medical tool employed to screen changes in genes linked to cancer and other genetic diseases. Genetic tests are available for breast, ovarian, colon, thyroid, and some other cancers and they represent the main tool for early identification of the “risk” subjects. The choice to undergo genetic testing by a healthy or affected cancer patient with family history of the cancer has to be the fruit of a careful and prudent assessment of the advantages and disadvantages discussed during oncogenetic counselling. The latter, in turn, in the case of a patient's positive and informed choice, must constantly affiliate the genetic testing, in order to preserve the prediction and information role of the test as much as possible.

  4. How Can Consumers Be Sure a Genetic Test Is Valid and Useful?

    Science.gov (United States)

    ... a genetic test is valid and useful? How can consumers be sure a genetic test is valid ... particular gene or genetic change. In other words, can the test accurately detect whether a specific genetic ...

  5. Standing the Test of Time: Reference for a Preliminary Ruling

    DEFF Research Database (Denmark)

    Butler, Graham

    2017-01-01

    It is often too easy to forget just how important the preliminary reference procedure is for the functionality of European Union law. For the Court of Justice, there are both formal and informal means of judicial dialogue. This article focuses on the formal means of dialogue through the preliminary...

  6. Genetic testing in the epilepsies—Report of the ILAE Genetics Commission

    Science.gov (United States)

    Ottman, Ruth; Hirose, Shinichi; Jain, Satish; Lerche, Holger; Lopes-Cendes, Iscia; Noebels, Jeffrey L.; Serratosa, José; Zara, Federico; Scheffer, Ingrid E.

    2010-01-01

    SUMMARY In this report, the International League Against Epilepsy (ILAE) Genetics Commission discusses essential issues to be considered with regard to clinical genetic testing in the epilepsies. Genetic research on the epilepsies has led to the identification of more than 20 genes with a major effect on susceptibility to idiopathic epilepsies. The most important potential clinical application of these discoveries is genetic testing: the use of genetic information, either to clarify the diagnosis in people already known or suspected to have epilepsy (diagnostic testing), or to predict onset of epilepsy in people at risk because of a family history (predictive testing). Although genetic testing has many potential benefits, it also has potential harms, and assessment of these potential benefits and harms in particular situations is complex. Moreover, many treating clinicians are unfamiliar with the types of tests available, how to access them, how to decide whether they should be offered, and what measures should be used to maximize benefit and minimize harm to their patients. Because the field is moving rapidly, with new information emerging practically every day, we present a framework for considering the clinical utility of genetic testing that can be applied to many different syndromes and clinical contexts. Given the current state of knowledge, genetic testing has high0020clinical utility in few clinical contexts, but in some of these it carries implications for daily clinical practice. PMID:20100225

  7. Preliminary tests of a high speed vertical axis windmill model

    Energy Technology Data Exchange (ETDEWEB)

    South, P; Rangi, R S

    1971-01-01

    This report discusses a fixed-pitch vertical axis windmill that combines the inherent simplicity of this type of machine with a high aerodynamic efficiency and a high relative velocity. A three-bladed rotor was selected as the basic design, having constant chord symmetric airfoil blades configured in a catenary curve such that the rotor diameter is equal to the rotor height. In wind tunnel tests using a 30 inch scale model, it was found that once this rotor was given a very low rotational speed, it picked up speed and ran at a rotor tip velocity/wind speed ratio greater than 1. The number of blades was varied in the testing. A maximum power coefficient of 0.67 was achieved at 17 ft/s wind speed at a tip speed/wind speed ratio of 7.25 for a 2-bladed rotor. Increasing the number of blades above 3 did not result in higher power. The rotor could operate in gusts which double the mean wind velocity. Examination of Reynolds number effects, and taking into account the scale of the model, it was concluded that a full-scale windmill could run at lower velocity ratios than those predicted by the model tests, and that it could self-start under no-load conditions if the cut-in rpm are at least half the rpm for maximum power at the prevailing wind speed. Preliminary estimates show that a 15 ft diameter windmill of this design, designed to operate with a safety factor of 2.5 up to a maximum wind speed of 60 ft/s, would weigh ca 150 lb and could be marketed for ca $60.00, excluding the driven unit, if sufficient quantities were produced to make tooling costs negligible. Similarly, a 30 ft windmill would weigh ca 1000 lb and cost ca $400.00. 2 refs., 6 figs.

  8. GENETIC TESTING AND RELATED ETHICAL ISSUES

    African Journals Online (AJOL)

    Enrique

    person, such as a genetic nurse, should inform them of their options and then refer them to a ... cation and counselling could fall to primary care doctors and nurses. Few pri- mary health care ... no prevention, treatment or cure, is very different.

  9. Genetic testing and its implications: human genetics researchers grapple with ethical issues.

    Science.gov (United States)

    Rabino, Isaac

    2003-01-01

    To better understand ethical issues involved in the field of human genetics and promote debate within the scientific community, the author surveyed scientists who engage in human genetics research about the pros, cons, and ethical implications of genetic testing. This study contributes systematic data on attitudes of scientific experts. The survey finds respondents are highly supportive of voluntary testing and the right to know one's genetic heritage. The majority consider in utero testing and consequent pregnancy termination acceptable for cases involving likelihood of serious disease but disapprove for genetic reasons they consider arbitrary, leaving a gray area of distinguishing between treatment of disorders and enhancement still to be resolved. While safeguarding patient confidentiality versus protecting at-risk third parties (kin, reproductive partners) presents a dilemma, preserving privacy from misuse by institutional third parties (employers, insurers) garners strong consensus for legislation against discrimination. Finally, a call is made for greater genetic literacy.

  10. Environmental Survey preliminary report, Nevada Test Site, Mercury, Nevada

    International Nuclear Information System (INIS)

    1988-04-01

    This report presents the preliminary findings from the first phase of the Environmental Survey of the United States Department of Energy (DOE) Nevada Test Site (NTS), conducted June 22 through July 10, 1987. The Survey is being conducted by a multidisciplinary team of environmental specialists led and managed by the Office of Environment, Safety and Health's Office of Environmental Audit. Individual team members are outside experts being supplied by a private contractor. The objective of the Survey is to identify environmental problems and areas of environmental risk associated with the NTS. The Survey covers all environment media and all areas of environmental regulation. It is being performed in accordance with the DOE Environmental Survey Manual. This phase of the Survey involves the review of existing site environmental data, observations of the operations and activities performed at the NTS, and interviews with site personnel. The Survey team developed a Sampling and Analysis Plan to assist in further assessing certain environmental problems identified during its on-site activities. The Sampling and Analysis Plan is being executed by the Battelle Columbus Division under contract with DOE. When completed, the results will be incorporated into the NTS Environmental Survey Interim Report. The Interim Report will reflect the final determinations of the NTS Survey. 165 refs., 42 figs., 52 tabs

  11. Environmental Survey preliminary report, Nevada Test Site, Mercury, Nevada

    Energy Technology Data Exchange (ETDEWEB)

    1988-04-01

    This report presents the preliminary findings from the first phase of the Environmental Survey of the United States Department of Energy (DOE) Nevada Test Site (NTS), conducted June 22 through July 10, 1987. The Survey is being conducted by a multidisciplinary team of environmental specialists led and managed by the Office of Environment, Safety and Health's Office of Environmental Audit. Individual team members are outside experts being supplied by a private contractor. The objective of the Survey is to identify environmental problems and areas of environmental risk associated with the NTS. The Survey covers all environment media and all areas of environmental regulation. It is being performed in accordance with the DOE Environmental Survey Manual. This phase of the Survey involves the review of existing site environmental data, observations of the operations and activities performed at the NTS, and interviews with site personnel. The Survey team developed a Sampling and Analysis Plan to assist in further assessing certain environmental problems identified during its on-site activities. The Sampling and Analysis Plan is being executed by the Battelle Columbus Division under contract with DOE. When completed, the results will be incorporated into the NTS Environmental Survey Interim Report. The Interim Report will reflect the final determinations of the NTS Survey. 165 refs., 42 figs., 52 tabs.

  12. Preliminary Tests Of The Decris-sc Ion Source

    CERN Document Server

    Efremov, A; Bechterev, V; Bogomolov, S L; Bondarenko, P G; Datskov, V I; Dmitriev, S; Drobin, V; Lebedev, A; Leporis, M; Malinowski, H; Nikiforov, A; Paschenko, S V; Seleznev, V; Shishov, Yu A; Smirnov, Yu; Tsvineva, G; Yakovlev, B; Yazvitsky, N Yu

    2004-01-01

    A new "liquid He-free" superconducting Electron Cyclotron Resonance Ion Source DECRIS-SC, to be used as injector for the IC-100 small cyclotron, has been designed by FLNR and LHE JINR. The main feature is that a compact refrigerator of Gifford-McMahon type is used to cool the solenoid coils. For the reason of very small cooling power at 4.2 K (about 1 W) our efforts were to optimize the magnetic structure and minimize an external heating of the coils. The maximum magnetic field strength is 3 T and 2 T in injection and extraction region respectively. For the radial plasma confinement a hexapole made of NdFeB permanent magnet is used. The source will be capable of ECR plasma heating using different frequencies (14 GHz or 18 GHz). To be able to deliver usable intensities of solids, the design is also allow axial access for evaporation oven and metal samples using the plasma sputtering technique. Very preliminary results of the source test are presented.

  13. Testing the structure of a hydrological model using Genetic Programming

    Science.gov (United States)

    Selle, Benny; Muttil, Nitin

    2011-01-01

    SummaryGenetic Programming is able to systematically explore many alternative model structures of different complexity from available input and response data. We hypothesised that Genetic Programming can be used to test the structure of hydrological models and to identify dominant processes in hydrological systems. To test this, Genetic Programming was used to analyse a data set from a lysimeter experiment in southeastern Australia. The lysimeter experiment was conducted to quantify the deep percolation response under surface irrigated pasture to different soil types, watertable depths and water ponding times during surface irrigation. Using Genetic Programming, a simple model of deep percolation was recurrently evolved in multiple Genetic Programming runs. This simple and interpretable model supported the dominant process contributing to deep percolation represented in a conceptual model that was published earlier. Thus, this study shows that Genetic Programming can be used to evaluate the structure of hydrological models and to gain insight about the dominant processes in hydrological systems.

  14. Ethical principles and pitfalls of genetic testing for dementia.

    Science.gov (United States)

    Hedera, P

    2001-01-01

    Progress in the genetics of dementing disorders and the availability of clinical tests for practicing physicians increase the need for a better understanding of multifaceted issues associated with genetic testing. The genetics of dementia is complex, and genetic testing is fraught with many ethical concerns. Genetic testing can be considered for patients with a family history suggestive of a single gene disorder as a cause of dementia. Testing of affected patients should be accompanied by competent genetic counseling that focuses on probabilistic implications for at-risk first-degree relatives. Predictive testing of at-risk asymptomatic patients should be modeled after presymptomatic testing for Huntington's disease. Testing using susceptibility genes has only a limited diagnostic value at present because potential improvement in diagnostic accuracy does not justify potentially negative consequences for first-degree relatives. Predictive testing of unaffected subjects using susceptibility genes is currently not recommended because individual risk cannot be quantified and there are no therapeutic interventions for dementia in presymptomatic patients.

  15. MALLARD REPRODUCTIVE TESTING IN A POND ENVIRONMENT: A PRELIMINARY STUDY

    Science.gov (United States)

    A 2-year preliminary study was conducted on mallard ducks to determine the feasibility of using outdoor pond enclosures for reproductive studies and to evaluate the effects of the insecticide chlorpyrifos on mallard reproduction. No significant reproductive effects were observed ...

  16. Preliminary test results and CFD analysis for moderator circulation test at Korea

    Energy Technology Data Exchange (ETDEWEB)

    Kim, H.T. [Korea Atomic Energy Research Inst., Daejeon (Korea, Republic of); Im, S.H.; Sung, H.J. [Korea Advanced Inst. of Science and Tech., Daejeon (Korea, Republic of); Seo, H.; Bang, I.C. [Ulsan National Inst. of Science and Tech., Ulsan (Korea, Republic of)

    2014-07-01

    Korea Atomic Energy Research Institute (KAERI) is carrying out a scaled-down moderator test program to simulate the CANDU6 moderator circulation phenomena during steady state operation and accident conditions. This research program includes the construction of the Moderator Circulation Test (MCT) facility, production of the validation data for self-reliant CFD tools, and development of optical measurement system using the Particle Image Velocimetry (PIV). The MCT facility includes a primary circulation loop (pipe lines, a primary side pump, a heat exchanger, valves, flow meters) and a secondary side loop (pipe lines, a secondary side pump, and an external cooling tower). The loop leakage test and non-heating test are performed in the present work. In the present work the PIV technique is used to measure the velocity distributions in the scaled moderator tank of MCT under iso-thermal test conditions. The preliminary PIV measurement data are obtained and compared with CFX code predictions. (author)

  17. Preliminary test results and CFD analysis for moderator circulation test at Korea

    International Nuclear Information System (INIS)

    Kim, H.T.; Im, S.H.; Sung, H.J.; Seo, H.; Bang, I.C.

    2014-01-01

    Korea Atomic Energy Research Institute (KAERI) is carrying out a scaled-down moderator test program to simulate the CANDU6 moderator circulation phenomena during steady state operation and accident conditions. This research program includes the construction of the Moderator Circulation Test (MCT) facility, production of the validation data for self-reliant CFD tools, and development of optical measurement system using the Particle Image Velocimetry (PIV). The MCT facility includes a primary circulation loop (pipe lines, a primary side pump, a heat exchanger, valves, flow meters) and a secondary side loop (pipe lines, a secondary side pump, and an external cooling tower). The loop leakage test and non-heating test are performed in the present work. In the present work the PIV technique is used to measure the velocity distributions in the scaled moderator tank of MCT under iso-thermal test conditions. The preliminary PIV measurement data are obtained and compared with CFX code predictions. (author)

  18. Genetic testing in asymptomatic minors: background considerations towards ESHG Recommendations

    DEFF Research Database (Denmark)

    Borry, Pascal; Evers-Kiebooms, Gerry; Cornel, Martina C

    2009-01-01

    Although various guidelines and position papers have discussed, in the past, the ethical aspects of genetic testing in asymptomatic minors, the European Society of Human Genetics had not earlier endorsed any set of guidelines exclusively focused on this issue. This paper has served as a backgroun...

  19. Preimplantation Genetic Testing in the 21st Century: Uncharted Territory

    Directory of Open Access Journals (Sweden)

    Paul R. Brezina MD, MBA

    2013-01-01

    Full Text Available The past hundred years have given birth to arguably the most profound changes in society, medicine, and technology the world has ever witnessed. Genetics is one such field that has enjoyed a meteoric rise during this time. Progressing from Mendelian genetics to the discovery of DNA to the ability to sequence the human genome, perhaps no other discipline holds more promise to affect future change than genetics. Technology currently exists to evaluate some of the genetic information held by developing embryos in the context of an in vitro fertilization (IVF cycle. This information is then used to determine which embryos are selected for uterine transfer. Many societies have enacted legislation to protect against possible abuses utilizing this technology. However, it is incumbent upon society to continue ensuring that preimplantation genetic diagnosis (PGD–-and genetic testing in general–-is applied in a way that utilizes its potential in a responsible manner to improve health care.

  20. [Study on tests of genetics experiments in universities].

    Science.gov (United States)

    Jie, He; Hao, Zhang; Lili, Zhang

    2015-03-01

    Based on the present situation and the development of experiment tests in universities, we introduced a reform in tests of genetics experiments. According to the teaching goals and course contents of genetics experiment, the tests of genetics experiments contain four aspects on the performance of students: the adherence to the experimental procedures, the depth of participation in experiment, the quality of experiment report, and the mastery of experiment principles and skills, which account for 10 %, 20 %, 40 % and 30 % in the total scores, respectively. All four aspects were graded quantitatively. This evaluation system has been tested in our experiment teaching. The results suggest that it has an effect on the promotion of teaching in genetics experiments.

  1. Health and genetic ancestry testing: time to bridge the gap.

    Science.gov (United States)

    Smart, Andrew; Bolnick, Deborah A; Tutton, Richard

    2017-01-09

    It is becoming increasingly difficult to keep information about genetic ancestry separate from information about health, and consumers of genetic ancestry tests are becoming more aware of the potential health risks associated with particular ancestral lineages. Because some of the proposed associations have received little attention from oversight agencies and professional genetic associations, scientific developments are currently outpacing governance regimes for consumer genetic testing. We highlight the recent and unremarked upon emergence of biomedical studies linking markers of genetic ancestry to disease risks, and show that this body of scientific research is becoming part of public discourse connecting ancestry and health. For instance, data on genome-wide ancestry informative markers are being used to assess health risks, and we document over 100 biomedical research articles that propose associations between mitochondrial DNA and Y chromosome markers of genetic ancestry and a wide variety of disease risks. Taking as an example an association between coronary heart disease and British men belonging to Y chromosome haplogroup I, we show how this science was translated into mainstream and online media, and how it circulates among consumers of genetic tests for ancestry. We find wide variations in how the science is interpreted, which suggests the potential for confusion or misunderstanding. We recommend that stakeholders involved in creating and using estimates of genetic ancestry reconsider their policies for communicating with each other and with the public about the health implications of ancestry information.

  2. Testing the Structure of Hydrological Models using Genetic Programming

    Science.gov (United States)

    Selle, B.; Muttil, N.

    2009-04-01

    Genetic Programming is able to systematically explore many alternative model structures of different complexity from available input and response data. We hypothesised that genetic programming can be used to test the structure hydrological models and to identify dominant processes in hydrological systems. To test this, genetic programming was used to analyse a data set from a lysimeter experiment in southeastern Australia. The lysimeter experiment was conducted to quantify the deep percolation response under surface irrigated pasture to different soil types, water table depths and water ponding times during surface irrigation. Using genetic programming, a simple model of deep percolation was consistently evolved in multiple model runs. This simple and interpretable model confirmed the dominant process contributing to deep percolation represented in a conceptual model that was published earlier. Thus, this study shows that genetic programming can be used to evaluate the structure of hydrological models and to gain insight about the dominant processes in hydrological systems.

  3. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.

    LENUS (Irish Health Repository)

    Murphy, Sinead M

    2012-07-01

    Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of diseases with approximately 45 different causative genes described. The aims of this study were to determine the frequency of different genes in a large cohort of patients with CMT and devise guidelines for genetic testing in practice.

  4. Genetic Testing in Psychiatry: A Review of Attitudes and Beliefs

    Science.gov (United States)

    Lawrence, Ryan E; Appelbaum, Paul S.

    2012-01-01

    The advent of genetic testing for psychiatric conditions raises difficult questions about when and how the tests should be used. Development of policies regarding these issues may be informed in a variety of ways by the views of key stakeholders: patients, family members, healthcare professionals, and the general public. Here we review empirical studies of attitudes towards genetic testing among these groups. Patients and family members show strong interest in diagnostic and predictive genetic testing, and to a considerable extent psychiatrists share their enthusiasm. Prenatal test utilization seems likely to depend both on parental views on abortion and the seriousness of the disorder. Parents show a surprising degree of interest in predictive testing of children, even when there are no preventive interventions available. Many persons report themselves ready to alter their lifestyles and plans for marriage and family in response to test results. Respondents also fear negative consequences, from discrimination to being unable to cope with knowledge of their “genetic fate.” Empirical studies of beliefs about genetic testing suggest tests are likely to be embraced widely, but the studies have methodologic limitations, reducing the certainty of their conclusions, and indicating a need for further research with more representative samples. PMID:22168293

  5. Presymptomatic ALS genetic counseling and testing: Experience and recommendations.

    Science.gov (United States)

    Benatar, Michael; Stanislaw, Christine; Reyes, Eliana; Hussain, Sumaira; Cooley, Anne; Fernandez, Maria Catalina; Dauphin, Danielle D; Michon, Sara-Claude; Andersen, Peter M; Wuu, Joanne

    2016-06-14

    Remarkable advances in our understanding of the genetic contributions to amyotrophic lateral sclerosis (ALS) have sparked discussion and debate about whether clinical genetic testing should routinely be offered to patients with ALS. A related, but distinct, question is whether presymptomatic genetic testing should be offered to family members who may be at risk for developing ALS. Existing guidelines for presymptomatic counseling and testing are mostly based on small number of individuals, clinical judgment, and experience from other neurodegenerative disorders. Over the course of the last 8 years, we have provided testing and 317 genetic counseling sessions (including predecision, pretest, posttest, and ad hoc counseling) to 161 first-degree family members participating in the Pre-Symptomatic Familial ALS Study (Pre-fALS), as well as testing and 75 posttest counseling sessions to 63 individuals with familial ALS. Based on this experience, and the real-world challenges we have had to overcome in the process, we recommend an updated set of guidelines for providing presymptomatic genetic counseling and testing to people at high genetic risk for developing ALS. These recommendations are especially timely and relevant given the growing interest in studying presymptomatic ALS. © 2016 American Academy of Neurology.

  6. Testing of genetically modified organisms in foods

    National Research Council Canada - National Science Library

    Ahmed, Farid E

    2004-01-01

    ... their background knowledge on the effectiveness of tests, and of course, laboratory personnel of all levels who are involved in carrying out tests. The chapters on molecular and immunological methods are authoritative and detailed in their scope and application. They are ably supported for the less-experienced reader by the basic inTeam struction provided ...

  7. Test Anxiety and a High-Stakes Standardized Reading Comprehension Test: A Behavioral Genetics Perspective

    Science.gov (United States)

    Wood, Sarah G.; Hart, Sara A.; Little, Callie W.; Phillips, Beth M.

    2016-01-01

    Past research suggests that reading comprehension test performance does not rely solely on targeted cognitive processes such as word reading, but also on other nontarget aspects such as test anxiety. Using a genetically sensitive design, we sought to understand the genetic and environmental etiology of the association between test anxiety and…

  8. Clinical Practice: Direct-to-consumer genetic testing: To test or not to ...

    African Journals Online (AJOL)

    In direct-to-consumer (DTC) genetic testing, laboratory-based genetic services are offered directly to the public without an independent healthcare professional being involved. The committee of the Southern African Society for Human Genetics (SASHG) appeals to the public and clinicians to be cautious when considering ...

  9. Hereditary melanoma and predictive genetic testing: why not?

    Science.gov (United States)

    Riedijk, S R; de Snoo, F A; van Dijk, S; Bergman, W; van Haeringen, A; Silberg, S; van Elderen, T M T; Tibben, A

    2005-09-01

    Since p16-Leiden presymptomatic testing for hereditary melanoma has become available in the Netherlands, the benefits and risks of offering such testing are evaluated. The current paper investigated why the non-participants were reluctant to participate in genetic testing. Sixty six eligible individuals, who were knowledgeable about the test but had not participated in genetic testing by January 2003, completed a self-report questionnaire assessing motivation, anxiety, family dynamics, risk knowledge and causal attributions. Non-participants reported anxiety levels below clinical significance. A principal components analysis on reasons for non-participation distinguished two underlying motives: emotional and rational motivation. Rational motivation for non-participation was associated with more accurate risk knowledge, the inclination to preselect mutation carriers within the family and lower scores on anxiety. Emotional motivation for non-participation was associated with disease misperceptions, hesitation to communicate unfavourable test results within the family and higher scores on anxiety. Rational and emotional motivation for non-participation in the genetic test for hereditary melanoma was found. Emotionally motivated individuals may be reluctant to disseminate genetic risk information. Rationally motivated individuals were better informed than emotionally motivated individuals. It is suggested that a leaflet is added to the invitation letter to enhance informed decision-making about genetic testing.

  10. Genetic testing in congenital heart disease:A clinical approach

    Institute of Scientific and Technical Information of China (English)

    Marie A Chaix; Gregor Andelfinger; Paul Khairy

    2016-01-01

    Congenital heart disease(CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is contingent upon the particular diagnostic hypothesis generated by clinical examination. Genetic investigation in CHD may carry the potential to improve prognosis by yielding valuable information with regards to personalized medical care, confidence in the clinical diagnosis, and/or targeted patient followup. Moreover, genetic assessment may serve as a tool to predict recurrence risk, define the pattern of inheritance within a family, and evaluate the need for further family screening. In some circumstances, prenatal or preimplantation genetic screening could identify fetuses or embryos at high risk for CHD. Although genetics may appear to constitute a highly specialized sector of cardiology, basic knowledge regarding inheritance patterns, recurrence risks, and available screening and diagnostic tools, including their strengths and limitations, could assist the treating physician in providing sound counsel.

  11. Genetic testing in congenital heart disease: A clinical approach

    Science.gov (United States)

    Chaix, Marie A; Andelfinger, Gregor; Khairy, Paul

    2016-01-01

    Congenital heart disease (CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is contingent upon the particular diagnostic hypothesis generated by clinical examination. Genetic investigation in CHD may carry the potential to improve prognosis by yielding valuable information with regards to personalized medical care, confidence in the clinical diagnosis, and/or targeted patient follow-up. Moreover, genetic assessment may serve as a tool to predict recurrence risk, define the pattern of inheritance within a family, and evaluate the need for further family screening. In some circumstances, prenatal or preimplantation genetic screening could identify fetuses or embryos at high risk for CHD. Although genetics may appear to constitute a highly specialized sector of cardiology, basic knowledge regarding inheritance patterns, recurrence risks, and available screening and diagnostic tools, including their strengths and limitations, could assist the treating physician in providing sound counsel. PMID:26981213

  12. Ethical issues in predictive genetic testing: a public health perspective

    Science.gov (United States)

    Fulda, K G; Lykens, K

    2006-01-01

    As a result of the increase in genetic testing and the fear of discrimination by insurance companies, employers, and society as a result of genetic testing, the disciplines of ethics, public health, and genetics have converged. Whether relatives of someone with a positive predictive genetic test should be notified of the results and risks is a matter urgently in need of debate. Such a debate must encompass the moral and ethical obligations of the diagnosing physician and the patient. The decision to inform or not will vary depending on what moral theory is used. Utilising the utilitarian and libertarian theories produces different outcomes. The principles of justice and non‐maleficence will also play an important role in the decision. PMID:16507657

  13. Ethical issues in predictive genetic testing: a public health perspective.

    Science.gov (United States)

    Fulda, K G; Lykens, K

    2006-03-01

    As a result of the increase in genetic testing and the fear of discrimination by insurance companies, employers, and society as a result of genetic testing, the disciplines of ethics, public health, and genetics have converged. Whether relatives of someone with a positive predictive genetic test should be notified of the results and risks is a matter urgently in need of debate. Such a debate must encompass the moral and ethical obligations of the diagnosing physician and the patient. The decision to inform or not will vary depending on what moral theory is used. Utilising the utilitarian and libertarian theories produces different outcomes. The principles of justice and non-maleficence will also play an important role in the decision.

  14. Progeny testing: proceedings of servicewide genetics workshop

    Science.gov (United States)

    Dick Miller

    1984-01-01

    The primary objective of this workshop was to discuss in detail the state- of-the-art of progeny testing. All aspects, from setting objectives through data collection and analysis, was be covered. We all know progeny testing is a highly technical phase of our tree improvement programs. Each task is critical and must be performed accurately and within a prescribed time...

  15. [Forensic hematology genetics--paternity testing].

    Science.gov (United States)

    Kratzer, A; Bär, W

    1997-05-01

    In Switzerland paternity investigations are carried out using DNA analysis only since 1991. DNA patterns are inherited and only with the exception of genetically identical twins they are different in everyone and therefore unique to an individual. Hence DNA-systems are an excellent tool to resolve paternity disputes. DNA polymorphisms used for paternity diagnosis are length polymorphisms of the highly polymorphic VNTR loci [variable number of tandem repeats]. The most frequently applied systems are the DNA single locus systems. In addition to the DNA single locus systems the application of PCR (PCR = polymerase chain reaction) based DNA systems has increased particularly in difficult deficiency cases or in cases where only small evidential samples or partially degraded DNA are available. Normally four independent DNA single probes are used to produce a DNA profile from the mother, the child and the alleged father. A child inherits half the DNA patterns from its mother and the other half from its true biological father. If an alleged father doesn't possess the paternal specific DNA pattern in his DNA profile he is excluded from the paternity. In case of non-exclusion the probability for paternity is calculated according to Essen-Möller. When applying four highly polymorphic DNA single locus systems the biostatistical evaluation leads always to W-values exceeding 99.8% [= required value for positive proof of paternity]. DNA analysis is currently the best available method to achieve such effective conclusions in paternity investigations.

  16. Accelerated stress testing of thin film solar cells: Development of test methods and preliminary results

    Science.gov (United States)

    Lathrop, J. W.

    1985-01-01

    If thin film cells are to be considered a viable option for terrestrial power generation their reliability attributes will need to be explored and confidence in their stability obtained through accelerated testing. Development of a thin film accelerated test program will be more difficult than was the case for crystalline cells because of the monolithic construction nature of the cells. Specially constructed test samples will need to be fabricated, requiring committment to the concept of accelerated testing by the manufacturers. A new test schedule appropriate to thin film cells will need to be developed which will be different from that used in connection with crystalline cells. Preliminary work has been started to seek thin film schedule variations to two of the simplest tests: unbiased temperature and unbiased temperature humidity. Still to be examined are tests which involve the passage of current during temperature and/or humidity stress, either by biasing in the forward (or reverse) directions or by the application of light during stress. Investigation of these current (voltage) accelerated tests will involve development of methods of reliably contacting the thin conductive films during stress.

  17. The ethical implications of genetic testing in the classroom.

    Science.gov (United States)

    Taylor, Ann T S; Rogers, Jill Cellars

    2011-07-01

    The development of classroom experiments where students examine their own DNA is frequently described as an innovative teaching practice. Often these experiences involve students analyzing their genes for various polymorphisms associated with disease states, like an increased risk for developing cancer. Such experiments can muddy the distinction between classroom investigation and medical testing. Although the goals and issues surrounding classroom genotyping do not directly align with those of clinical testing, instructors can use the guidelines and standards established by the medical genetics community when evaluating the ethics of human genotyping. We developed a laboratory investigation and discussion which allowed undergraduate science students to explore current DNA manipulation techniques to isolate their p53 gene, followed by a dialogue probing the ethical implications of examining their sample for various polymorphisms. Students never conducted genotyping on their samples because of the ethical concerns presented in this paper, so the discussion replaced the actual genetic testing in the class. A science faculty member led the laboratory portion, while a genetic counselor facilitated the discussion of the ethical concepts underlying genetic counseling: autonomy, beneficence, confidentiality, and justice. In their final papers, students demonstrated an understanding of the practice guidelines established by the genetics community and acknowledged the ethical considerations inherent in p53 genotyping. Given the burgeoning market for personalized medicine, teaching undergraduates about the psychosocial and ethical dimensions of human genetic testing is important and timely. Moreover, incorporating a genetic counselor in the classroom discussion provided a rich and dynamic discussion of human genetic testing. Copyright © 2011 Wiley Periodicals, Inc.

  18. Facial averageness and genetic quality: Testing heritability, genetic correlation with attractiveness, and the paternal age effect.

    Science.gov (United States)

    Lee, Anthony J; Mitchem, Dorian G; Wright, Margaret J; Martin, Nicholas G; Keller, Matthew C; Zietsch, Brendan P

    2016-01-01

    Popular theory suggests that facial averageness is preferred in a partner for genetic benefits to offspring. However, whether facial averageness is associated with genetic quality is yet to be established. Here, we computed an objective measure of facial averageness for a large sample ( N = 1,823) of identical and nonidentical twins and their siblings to test two predictions from the theory that facial averageness reflects genetic quality. First, we use biometrical modelling to estimate the heritability of facial averageness, which is necessary if it reflects genetic quality. We also test for a genetic association between facial averageness and facial attractiveness. Second, we assess whether paternal age at conception (a proxy of mutation load) is associated with facial averageness and facial attractiveness. Our findings are mixed with respect to our hypotheses. While we found that facial averageness does have a genetic component, and a significant phenotypic correlation exists between facial averageness and attractiveness, we did not find a genetic correlation between facial averageness and attractiveness (therefore, we cannot say that the genes that affect facial averageness also affect facial attractiveness) and paternal age at conception was not negatively associated with facial averageness. These findings support some of the previously untested assumptions of the 'genetic benefits' account of facial averageness, but cast doubt on others.

  19. Effectiveness of an online curriculum for medical students on genetics, genetic testing and counseling

    Directory of Open Access Journals (Sweden)

    Mary P. Metcalf

    2010-01-01

    Full Text Available Background: It is increasingly important that physicians have a thorough understanding of the basic science of human genetics and the ethical, legal and social implications (ELSI associated with genetic testing and counseling. Methods: The authors developed a series of web-based courses for medical students on these topics. The course modules are interactive, emphasize clinical case studies, and can easily be incorporated into existing medical school curricula. Results: Results of a ‘real world’ effectiveness trial indicate that the courses have a statistically significant effect on knowledge, attitude, intended behavior and self-efficacy related to genetic testing (p<0.001; N varies between 163 and 596 for each course. Conclusions: The results indicate that this curriculum is an effective tool for educating medical students on the ELSI associated with genetic testing and for promoting positive changes in students' confidence, counseling attitudes and behaviors.

  20. Genetic Testing Accounts of Autonomy, Responsibility and Blame

    DEFF Research Database (Denmark)

    Arribas-Ayllon, M.; Sarangi, Srikant; Clarke, Angus

    Advances in molecular genetics have led to the increasing availability of genetic testing for a variety of inherited disorders. While this new knowledge presents many obvious health benefits to prospective individuals and their families it also raises complex ethical and moral dilemmas for famili......, the assessment of competence and maturity, the ability to engage in shared decision-making through acts of disclosure and choice, are just some of the issues that are examined in detail....... as well as genetic professionals. This book explores the ways in which genetic testing generates not only probabilities of potential futures, but also enjoys new forms of social, individual and professional responsibility. Concerns about confidentiality and informed consent involving children...

  1. Privacy Threats and Practical Solutions for Genetic Risk Tests

    OpenAIRE

    Barman, Ludovic; El Graini, Mohammed-Taha; Raisaro, Jean Louis; Ayday, Erman; Hubaux, Jean-Pierre

    2015-01-01

    Recently, several solutions have been proposed to address the complex challenge of protecting individuals’ genetic data during personalized medicine tests. In this short paper, we analyze different privacy threats and propose simple countermeasures for the generic architecture mainly used in the literature. In particular, we present and evaluate a new practical solution against a critical attack of a malicious medical center trying to actively infer raw genetic information of patients.

  2. Ethical Issues with Genetic Testing for Tay-Sachs.

    Science.gov (United States)

    Clayton, Tricia

    Several genetic disorders are specific to Jewish heritage; one of the most devastating is Tay-Sachs disease.Tay-Sachs is a fatal hereditary disease, causing progressive neurological problems for which there is no cure. Ethical issues surrounding genetic testing for Tay-Sachs within the Jewish community continue to be complex and multifaceted. A perspective of Tay-Sachs, using rights-based ethics and virtue ethics as a theoretical framework, is explored.

  3. The effect of direct-to-consumer genetic tests on anticipated affect and health-seeking behaviors: a pilot survey.

    Science.gov (United States)

    Bansback, Nick; Sizto, Sonia; Guh, Daphne; Anis, Aslam H

    2012-10-01

    Numerous websites offer direct-to-consumer (DTC) genetic testing, yet it is unknown how individuals will react to genetic risk profiles online. The objective of this study was to determine the feasibility of using a web-based survey and conjoint methods to elicit individuals' interpretations of genetic risk profiles by their anticipated worry/anxiousness and health-seeking behaviors. A web-based survey was developed using conjoint methods. Each survey presented 12 hypothetical genetic risk profiles describing genetic test results for four diseases. Test results were characterized by the type of disease (eight diseases), individual risk (five levels), and research confidence (three levels). After each profile, four questions were asked regarding anticipated worry and health-seeking behaviors. Probabilities of response outcomes based on attribute levels were estimated from logistic regression models, adjusting for covariates. Overall, 319 participants (69%) completed 3828 unique genetic risk profiles. Across all profiles, most participants anticipated making doctor's appointments (63%), lifestyle changes (57%), and accessing screening (57%); 40% anticipated feeling more worried and anxious. Higher levels of disease risk were significantly associated with affirmative responses. Conjoint methods may be used to elicit reactions to genetic information online. Preliminary results suggest that genetic information may increase worry/anxiousness and health-seeking behaviors among consumers of DTC tests. Further research is planned to determine the appropriateness of these affects and behaviors.

  4. Preliminary results of a test of a longitudinal phase-space monitor

    International Nuclear Information System (INIS)

    Kikutani, Eiji; Funakoshi, Yoshihiro; Kawamoto, Takashi; Mimashi, Toshihiro

    1994-01-01

    A prototype of a longitudinal phase-space monitor has been developed in TRISTAN Main Ring at KEK. The principle of the monitor and its basic components are explained. Also a result of a preliminary beam test is given. (author)

  5. New and emerging technologies for genetic toxicity testing.

    Science.gov (United States)

    Lynch, Anthony M; Sasaki, Jennifer C; Elespuru, Rosalie; Jacobson-Kram, David; Thybaud, Véronique; De Boeck, Marlies; Aardema, Marilyn J; Aubrecht, Jiri; Benz, R Daniel; Dertinger, Stephen D; Douglas, George R; White, Paul A; Escobar, Patricia A; Fornace, Albert; Honma, Masamitsu; Naven, Russell T; Rusling, James F; Schiestl, Robert H; Walmsley, Richard M; Yamamura, Eiji; van Benthem, Jan; Kim, James H

    2011-04-01

    The International Life Sciences Institute (ILSI) Health and Environmental Sciences Institute (HESI) Project Committee on the Relevance and Follow-up of Positive Results in In Vitro Genetic Toxicity (IVGT) Testing established an Emerging Technologies and New Strategies Workgroup to review the current State of the Art in genetic toxicology testing. The aim of the workgroup was to identify promising technologies that will improve genotoxicity testing and assessment of in vivo hazard and risk, and that have the potential to help meet the objectives of the IVGT. As part of this initiative, HESI convened a workshop in Washington, DC in May 2008 to discuss mature, maturing, and emerging technologies in genetic toxicology. This article collates the abstracts of the New and Emerging Technologies Workshop together with some additional technologies subsequently considered by the workgroup. Each abstract (available in the online version of the article) includes a section addressed specifically to the strengths, weaknesses, opportunities, and threats associated with the respective technology. Importantly, an overview of the technologies and an indication of how their use might be aligned with the objectives of IVGT are presented. In particular, consideration was given with regard to follow-up testing of positive results in the standard IVGT tests (i.e., Salmonella Ames test, chromosome aberration assay, and mouse lymphoma assay) to add weight of evidence and/or provide mechanism of action for improved genetic toxicity risk assessments in humans. Copyright © 2010 Wiley-Liss, Inc.

  6. An Adaptive Genetic Association Test Using Double Kernel Machines.

    Science.gov (United States)

    Zhan, Xiang; Epstein, Michael P; Ghosh, Debashis

    2015-10-01

    Recently, gene set-based approaches have become very popular in gene expression profiling studies for assessing how genetic variants are related to disease outcomes. Since most genes are not differentially expressed, existing pathway tests considering all genes within a pathway suffer from considerable noise and power loss. Moreover, for a differentially expressed pathway, it is of interest to select important genes that drive the effect of the pathway. In this article, we propose an adaptive association test using double kernel machines (DKM), which can both select important genes within the pathway as well as test for the overall genetic pathway effect. This DKM procedure first uses the garrote kernel machines (GKM) test for the purposes of subset selection and then the least squares kernel machine (LSKM) test for testing the effect of the subset of genes. An appealing feature of the kernel machine framework is that it can provide a flexible and unified method for multi-dimensional modeling of the genetic pathway effect allowing for both parametric and nonparametric components. This DKM approach is illustrated with application to simulated data as well as to data from a neuroimaging genetics study.

  7. The Art Gallery Test: A Preliminary Comparison between Traditional Neuropsychological and Ecological VR-Based Tests

    Directory of Open Access Journals (Sweden)

    Pedro Gamito

    2017-11-01

    Full Text Available Ecological validity should be the cornerstone of any assessment of cognitive functioning. For this purpose, we have developed a preliminary study to test the Art Gallery Test (AGT as an alternative to traditional neuropsychological testing. The AGT involves three visual search subtests displayed in a virtual reality (VR art gallery, designed to assess visual attention within an ecologically valid setting. To evaluate the relation between AGT and standard neuropsychological assessment scales, data were collected on a normative sample of healthy adults (n = 30. The measures consisted of concurrent paper-and-pencil neuropsychological measures [Montreal Cognitive Assessment (MoCA, Frontal Assessment Battery (FAB, and Color Trails Test (CTT] along with the outcomes from the three subtests of the AGT. The results showed significant correlations between the AGT subtests describing different visual search exercises strategies with global and specific cognitive measures. Comparative visual search was associated with attention and cognitive flexibility (CTT; whereas visual searches involving pictograms correlated with global cognitive function (MoCA.

  8. Preliminary evidence for genetic overlap between body mass index and striatal reward response.

    Science.gov (United States)

    Lancaster, T M; Ihssen, I; Brindley, L M; Linden, D E

    2018-01-10

    The reward-processing network is implicated in the aetiology of obesity. Several lines of evidence suggest obesity-linked genetic risk loci (such as DRD2 and FTO) may influence individual variation in body mass index (BMI) through neuropsychological processes reflected in alterations in activation of the striatum during reward processing. However, no study has tested the broader hypotheses that (a) the relationship between BMI and reward-related brain activation (measured through the blood oxygenation-dependent (BOLD) signal) may be observed in a large population study and (b) the overall genetic architecture of these phenotypes overlap, an assumption critical for the progression of imaging genetic studies in obesity research. Using data from the Human Connectome Project (N = 1055 healthy, young individuals: average BMI = 26.4), we first establish a phenotypic relationship between BMI and ventral striatal (VS) BOLD during the processing of rewarding (monetary) stimuli (β = 0.44, P = 0.013), accounting for potential confounds. BMI and VS BOLD were both significantly influenced by additive genetic factors (H2r = 0.57; 0.12, respectively). Further decomposition of this variance suggested that the relationship was driven by shared genetic (ρ g  = 0.47, P = 0.011), but not environmental (ρ E  = -0.07, P = 0.29) factors. To validate the assumption of genetic pleiotropy between BMI and VS BOLD, we further show that polygenic risk for higher BMI is also associated with increased VS BOLD response to appetitive stimuli (calorically high food images), in an independent sample (N = 81; P FWE-ROI  < 0.005). Together, these observations suggest that the genetic factors link risk to obesity to alterations within key nodes of the brain's reward circuity. These observations provide a basis for future work exploring the mechanistic role of genetic loci that confer risk for obesity using the imaging genetics approach.

  9. [Genetic counseling and testing for families with Alzheimer's disease].

    Science.gov (United States)

    Kowalska, Anna

    2004-01-01

    With the identification of the genes responsible for autosomal dominant early-onset familial Alzheimer's disease (FAD genes), there is a considerable interest in the application of this genetic information in medical practice through genetic testing and counseling. Pathogenic mutations in the PSEN1 and PSEN2 genes encoding presenilin-1 and -2, and the APP gene encoding amyloid b precursor protein, account for 18-50% of familial EOAD cases with autosomal dominant pattern of inheritance. A clinical algorithm of genetic testing and counseling proposed for families with AD has been presented here. A screening for mutations in the APP, PSEN1, and PSEN2 genes is available to individuals with AD symptoms and at-risk children or siblings of patients with early-onset disease determined by a known mutation. In an early-onset family, a known mutation in an affected patient puts the siblings and children at a 50% risk of inheriting the same mutation. The goal of genetic testing is to identify at-risk individuals in order to facilitate early and effective treatments in the symptomatic person based on an individual's genotype and strategies to delay the onset of disease in the presymptomatic mutation carriers. However, there are several arguments against the use of genetic testing both presymptomatically (unpredictable psychological consequences of information about a genetic defect for family members) and as a diagnostic tool for the differential diagnosis of dementia in general practice (a risk of errors in an interpretation of mutation penetrance and its secondary effects on family members, especially for novel mutations; the possibility of coexistence of another form of dementia at the presence of a mutation). Currently, APOE genotyping for presymptomatic individuals with a family history of late-onset disease is not recommended. The APOE4 allele may only confer greater risk for disease, but its presence is not conclusive for the development of AD.

  10. Perceptions regarding genetic testing in populations at risk for nephropathy.

    Science.gov (United States)

    Freedman, Barry I; Fletcher, Alison J; Sanghani, Vivek R; Spainhour, Mitzie; Graham, Angelina W; Russell, Gregory B; Cooke Bailey, Jessica N; Iltis, Ana S; King, Nancy M P

    2013-01-01

    Population ancestry-based differences exist in genetic risk for many kidney diseases. Substantial debate remains regarding returning genetic test results to participants. African-Americans (AAs) and European-Americans (EAs) at risk for end-stage kidney disease were queried for views on the value and use of genetic testing in research. A standardized survey regarding attitudes toward genetic testing was administered to 130 individuals (64 AA, 66 EA) with first-degree relatives on dialysis. Fisher's exact test was used to assess differences in participant attitudes between population groups. Mean (SD) age of surveyed AAs and EAs was 45.5 (12.8) and 50.5 (14.4) years, respectively (p = 0.04), with similar familial relationships (p = 0.22). AAs and EAs wished to know their test results if risk could be: (1) reduced by diet or exercise (100 and 98%, p = 0.99); (2) reduced by medical treatment (100 and 98%, p = 0.99), or (3) if no treatments were available (90 and 82%, p = 0.21). If informed they lacked a disease susceptibility variant, 87% of AAs and 88% of EAs would be extremely or pretty likely to inform family members (p = 0.84). If informed they had a disease susceptibility variant, 92% of AAs and 89% of EAs would be extremely or pretty likely to inform their family (p = 0.43). Attitudes toward obtaining and using genetic test results for disease in research contexts were similar in AAs and EAs at risk for end-stage kidney disease. A substantial majority would want information regardless of available treatments and would share the information with the family. These results have important implications for patient care, study design and the informed consent process. © 2013 S. Karger AG, Basel.

  11. A Clinical Perspective on Ethical Issues in Genetic Testing

    NARCIS (Netherlands)

    Sijmons, R. H.; Van Langen, I. M.; Sijmons, J. G.

    2011-01-01

    Genetic testing is traditionally preceded by counselling to discuss its advantages and disadvantages with individuals so they can make informed decisions. The new technique of whole genome or exome sequencing, which is currently only used in research settings, can identify many gene mutations,

  12. PRELIMINARY RESEARCHES REGARDING THE GENETIC AND MORPHOMETRIC CHARACTERIZATION OF HONEYBEES (A. MELLIFERA L. FROM ROMANIA

    Directory of Open Access Journals (Sweden)

    ELIZA CAUIA

    2008-10-01

    Full Text Available The international investigations regarding the honeybees’ diversity carried out until now have revealed a certain degree of genetic pollution in different countries from Europe, because of the import of more productive honeybees’ races or of some interracial honeybees’ hybrids. This fact might have a negative impact on the success adaptability of honeybees at the ecosystem. Although, the Romanian honeybees (Apis mellifera carpathica are well adapted to the local conditions and express a good resistance to diseases, the introgression (genetic pollution of different honeybees’ races could be an imminent event. So that, starting from 2007, by a cooperation between the Institute for Beekeeping Research and Development from Bucharest and the Institute of Genetics of the University of Bucharest, we have initiated different investigations in order to obtain a more accurate state of the Romanian honeybees’ diversity. We have performed specific molecular analyses, using mtDNA (the COI-COII test extracted from 32 different honeybees samples collected from several regions from Romania. For a better and detailed characterization of the collected honeybee’s samples we have also carried out some morphometric measurements of their wings. Our data have shown that the Romanian population of honeybees is almost homogenous from the genetic and the morphometric points of views. These types of investigations represent a premiere for Romania.

  13. Eddy current testing probe optimization using a parallel genetic algorithm

    Directory of Open Access Journals (Sweden)

    Dolapchiev Ivaylo

    2008-01-01

    Full Text Available This paper uses the developed parallel version of Michalewicz's Genocop III Genetic Algorithm (GA searching technique to optimize the coil geometry of an eddy current non-destructive testing probe (ECTP. The electromagnetic field is computed using FEMM 2D finite element code. The aim of this optimization was to determine coil dimensions and positions that improve ECTP sensitivity to physical properties of the tested devices.

  14. Do patents impede the provision of genetic tests in Australia?

    Science.gov (United States)

    Nicol, Dianne; Liddicoat, John

    2013-06-01

    Health policy and law reform agencies lack a sound evidence base of the impacts of patents on innovation and access to healthcare to assist them in their deliberations. This paper reports the results of a survey of managers of Australian genetic testing laboratories that asked a series of questions relating to the tests they perform, whether they pay to access patented inventions and whether they have received notifications from patent holders about patents associated with particular tests. Some diagnostics facilities are exposed to patent costs, but they are all located in the private sector. No public hospitals reported paying licence fees or royalties beyond those included in the price of commercial test kits. Some respondents reported having received enforcement notices from patent holders, but almost all related to the widely known breast cancer-associated patents. Respondents were also asked for their views on the most effective mechanisms to protect their ability to provide genetic tests now and in the future. Going to the media, paying licence fees, ignoring patent rights and relying on the government to take action were widely seen as most effective. Litigation and applications for compulsory licences were seen as some of the least effective mechanisms. These results provide an evidence base for development of health policy and law reform. What is known about the topic? The impact of patents on the delivery of genetic testing services remains unclear in Australia. What does this paper add? The survey reported in this paper suggests that, aside from well-known enforcement actions relating to the breast cancer associated patents, there is little evidence that providers of genetic testing services are being exposed to aggressive patent-enforcement practices. What are the implications for practitioners? Although patent-enforcement actions may increase in the future, a range of strategies are available to providers of testing services to protect them against

  15. US system of oversight for genetic testing: a report from the Secretary's Advisory Committee on Genetics, Health and Society.

    Science.gov (United States)

    Ferreira-Gonzalez, Andrea; Teutsch, Steven; Williams, Marc S; Au, Sylvia M; Fitzgerald, Kevin T; Miller, Paul Steven; Fomous, Cathy

    2008-09-01

    As genetic testing technology is integrated into healthcare, increasingly detailed information about individual and population genetic variation is available to patients and providers. Health professionals use genetic testing to diagnose or assess the risk of disease in individuals, families and populations and to guide healthcare decisions. Consumers are beginning to explore personalized genomic services in an effort to learn more about their risk for common diseases. Scientific and technological advances in genetic testing, as with any newly introduced medical technology, present certain challenges to existing frameworks of oversight. In addition, the growing use of genetic testing will require a significant investment in evidence-based assessments to understand the validity and utility of these tests in clinical and personal decisionmaking. To optimize the use of genetic testing in healthcare, all sectors of the oversight system need to be strengthened and yet remain flexible in order to adapt to advances that will inevitably increase the range of genetic tests and methodologies.

  16. Preliminary irradiation test results from the Yankee Atomic Electric Company reactor vessel test irradiation program

    International Nuclear Information System (INIS)

    Biemiller, E.C.; Fyfitch, S.; Campbell, C.A.

    1993-01-01

    The Yankee Atomic Electric Company test irradiation program was implemented to characterize the irradiation response of representative Yankee Rowe reactor vessel beltline plate materials and to remove uncertainties in the analysis of existing irradiation data on the Yankee Rowe reactor vessel steel. Plate materials each containing 0.24 w/o copper, but different nickel contents at 0.63 w/o and 0.19 w/o, were heat treated to simulate the Yankee vessel heat treatment (austenitized at 1800 deg F) and to simulate Regulatory Guide 1.99 database materials (austenitized at 1600 deg. F). These heat treatments produced different microstructures so the effect of microstructure on irradiation damage sensitivity could be tested. Because the nickel content of the test plates varied and the copper level was constant, the effect of nickel on irradiation embrittlement was also tested. Correlation monitor material, HSST-02, was included in the program to benchmark the Ford Nuclear Reactor (U. of Michigan Test Reactor) which had never been used for this type of irradiation program. Materials taken from plate surface locations (vs. 1/4T) were included to test whether or not the improved toughness properties of the plate surface layer, resulting from the rapid quench, is maintained after irradiation. If the improved properties are maintained, pressurized thermal shock calculations could utilize this margin. Finally, for one experiment, irradiations were conducted at two irradiation temperatures (500 deg. F and 550 deg. F) to determine the effect of irradiation temperature on embrittlement. The preliminary results of the irradiation program show an increase in T 30 shift of 69 deg. F for a decrease in irradiation temperature of 50 deg. F. The results suggest that for nickel bearing steels, the superior toughness of plate surface material is maintained after irradiation and for the copper content tested, nickel had no apparent effect on irradiation response. No apparent microstructure

  17. Genetic testing in the European Union: does economic evaluation matter?

    Science.gov (United States)

    Antoñanzas, Fernando; Rodríguez-Ibeas, R; Hutter, M F; Lorente, R; Juárez, C; Pinillos, M

    2012-10-01

    We review the published economic evaluation studies applied to genetic technologies in the EU to know the main diseases addressed by these studies, the ways the studies were conducted and to assess the efficiency of these new technologies. The final aim of this review was to understand the possibilities of the economic evaluations performed up to date as a tool to contribute to decision making in this area. We have reviewed a set of articles found in several databases until March 2010. Literature searches were made in the following databases: PubMed; Euronheed; Centre for Reviews and Dissemination of the University of York-Health Technology Assessment, Database of Abstracts of Reviews of Effects, NHS Economic Evaluation Database; and Scopus. The algorithm was "(screening or diagnosis) and genetic and (cost or economic) and (country EU27)". We included studies if they met the following criteria: (1) a genetic technology was analysed; (2) human DNA must be tested for; (3) the analysis was a real economic evaluation or a cost study, and (4) the articles had to be related to any EU Member State. We initially found 3,559 papers on genetic testing but only 92 articles of economic analysis referred to a wide range of genetic diseases matched the inclusion criteria. The most studied diseases were as follows: cystic fibrosis (12), breast and ovarian cancer (8), hereditary hemochromatosis (6), Down's syndrome (7), colorectal cancer (5), familial hypercholesterolaemia (5), prostate cancer (4), and thrombophilia (4). Genetic tests were mostly used for screening purposes, and cost-effectiveness analysis is the most common type of economic study. The analysed gene technologies are deemed to be efficient for some specific population groups and screening algorithms according to the values of their cost-effectiveness ratios that were below the commonly accepted threshold of 30,000€. Economic evaluation of genetic technologies matters but the number of published studies is still

  18. Swiss Federal Law on the Genetic Testing of Humans

    OpenAIRE

    森, 芳周

    2009-01-01

    To add an article against the misuse of a reproductive technology and a genetic engineering, theSwiss Federal Constitution was revised in 1992 through an initiative in 1987. On the basis of thisarticle of the constitution, the Reproductive Medicine Act and the Stem Cell Research Act wereenacted in turns; then, the Federal Law on the Genetic Testing of Humans was enacted in October2004. This paper treats a process of the revision of the constitution in 1992 and the enactment of thelaw in 2004....

  19. Application of genetic markers in seed testing and plant breeding

    Directory of Open Access Journals (Sweden)

    Nikolić Zorica

    2010-01-01

    Full Text Available Genetic markers have been used at Institute of Field and Vegetable Crops in Novi Sad for a number of years, both for seed quality control and for research purposes. The Laboratory for Seed Testing was the first in the former Yugoslavia to use the method of control of hybrid seed genetic purity based on enzymatic polymorphism. This paper presents the application of protein markers, isozymes, seed storage proteins and DNA markers for evaluation of seed and breeding materials of various agricultural crops in Serbia.

  20. Preliminary Options Assessment of Versatile Irradiation Test Reactor

    Energy Technology Data Exchange (ETDEWEB)

    Sen, Ramazan Sonat [Idaho National Lab. (INL), Idaho Falls, ID (United States)

    2017-01-01

    The objective of this report is to summarize the work undertaken at INL from April 2016 to January 2017 and aimed at analyzing some options for designing and building a versatile test reactor; the scope of work was agreed upon with DOE-NE. Section 2 presents some results related to KNK II and PRISM Mod A. Section 3 presents some alternatives to the VCTR presented in [ ] as well as a neutronic parametric study to assess the minimum power requirement needed for a 235U metal fueled fast test reactor capable to generate a fast (>100 keV) flux of 4.0 x 1015 n /cm2-s at the test location. Section 4 presents some results regarding a fundamental characteristic of test reactors, namely displacement per atom (dpa) in test samples. Section 5 presents the INL assessment of the ANL fast test reactor design FASTER. Section 6 presents a summary.

  1. NNWSI Phase II materials interaction test procedure and preliminary results

    International Nuclear Information System (INIS)

    Bates, J.K.; Gerding, T.J.

    1985-01-01

    The Nevada Nuclear Waste Storage Investigations (NNWSI) project is investigating the volcanic tuff beds of Yucca Mountain, Nevada, as a potential location for a high-level radioactive waste repository. This report describes a test method (Phase II) that has been developed to measure the release of radionuclides from the waste package under simulated repository conditions, and provides information on materials interactions that may occur in the repository. The results of 13 weeks of testing using the method are presented, and an analog test is described that investigates the relationship between the test method and expected repository conditions. 9 references, 10 figures, 11 tables

  2. Preliminary nuclear design for test MOX Fuel rods

    Energy Technology Data Exchange (ETDEWEB)

    Joo, Hyung Kook; Kim, Taek Kyum; Jeong, Hyung Guk; Noh, Jae Man; Cho, Jin Young; Kim, Young Il; Kim, Young Jin; Sohn, Dong Seong

    1997-10-01

    As a part of activity for future fuel development project, test MOX fuel rods are going to be loaded and irradiated in Halden reactor core as a KAERI`s joint international program with Paul Scherrer Institute (PSI). PSI will fabricate test MOX rods with attrition mill device which was developed by KAERI. The test fuel assembly rig contains three MOX rods and three inert matrix rods. One of three MOX rods will be fabricated by BNFL, the other two MOX fuel rods will be manufacturing jointly by KAERI and PSI. Three inert matrix fuel rods will be fabricated with Zr-Y-Er-Pu oxide. Neutronic evaluation was preliminarily performed for test fuel assembly suggested by PSI. The power distribution of test fuel rod in test fuel assembly was analyzed for various fuel rods position in assembly and the depletion characteristic curve for test fuel was also determined. The fuel rods position in test fuel assembly does not effect the rod power distribution, and the proposal for test fuel rods suggested by PSI is proved to be feasible. (author). 2 refs., 13 tabs., 16 figs.

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

    Science.gov (United States)

    ... their family history of cancer. Depending on a woman’s family history, the doctor or nurse may then use a ... against routine genetic counseling or BRCA testing of women whose family history is not associated with an increased risk for ...

  4. Genetic parameters on Bali cattle progeny test population

    Science.gov (United States)

    Hariansyah, A. R.; Raharjo, A.; Zainuri, A.; Parwoto, Y.; Prasetiyo, D.; Prastowo, S.; Widyas, N.

    2018-03-01

    Bali cattle (Bos javanicus) is Indonesian indigenous cattle with having superior genetics potential on fitness traits in tropical environment and low feed quality. Bali Cattle Breeding Center Pulukan Indonesia conducted progeny test per annum in order to select bulls using offspring’s phenotype. This paper aimed to estimate the genetic parameters of yearling weight in Bali cattle progeny test populations and to observe the variation between periods in the above breeding center. Data were collected from the year of 2013 to 2014. There were four bulls (3 tests, 1 AI control) in 2013 and five bulls (4 tests, 1 AI) in 2014. Thirty breeding females were allocated per paddock per bull and allowed to mate naturally. In total 80 and 104 offspring’s records were obtained from 2013 and 2014 data, respectively. We built half-sib family model to estimate the additive genetic variance due to the sire and later estimate the breeding value (EBV) of each sire. Results showed that in 2013 the heritability (h2) for yearling weight was 0.19 while in 2014 was 0.79. In both years, tested bulls had higher EBV compared to the control bulls. The remarkable difference of heritability between years was due to the variations among bull candidates which might differ every year with regards to their origins. The fact that the EBV of tested bulls were higher than the control bulls gave us insight that despite the conservation policy and the continuous departure of Bali cattle bulls outside the Island, the population could still maintain its genetic quality.

  5. Radiation Testing on State-of-the-Art CMOS: Challenges, Plans, and Preliminary Results

    Science.gov (United States)

    LaBel, Kenneth A.; Cohn, Lewis M.

    2009-01-01

    At GOMAC 2007 and 2008, we discussed a variety of challenges for radiation testing of modern semiconductor devices and technologies [1, 2]. In this presentation, we provide more specific details in this on-going investigation focusing on out-of-the-box lessons observed for providing radiation effects assurances as well as preliminary test results.

  6. [Advantages and disadvantages of direct-to-consumer genetic tests].

    Science.gov (United States)

    Christiansen, Camilla Worm; Gerdes, Anne-Marie Axø

    2017-03-13

    Direct-to-consumer genetic tests are sold over the internet to consumers all over the world - including Denmark. No regulation of these tests has been introduced neither in Denmark nor in Europe, even though they have been on the market since 2007. Such tests have several advantages, but indeed also a long list of potential disadvantages, which are most often ignored, and among these is insufficient training of general practitioners in performing the necessary counselling but also the risk of increased expenses to unnecessary follow-up consultations.

  7. CHALLENGE TESTS WITH LISTERIA MONOCYTOGENES IN SALAMI: PRELIMINARY RESULTS

    Directory of Open Access Journals (Sweden)

    R. Mioni

    2013-02-01

    Full Text Available Challenge tests are the preferable methodology to study the behaviour of Listeria monocytogenes on ready to eat foods, according to Regulation (EC 2073/2005. Challenge testing using L. monocytogenes in seasoned salami from different food business operators showed, after seasoning of the product, a count reduction of the inoculated organisms without any further growth of the pathogen; however differences of L. monocytogenes behaviour could be observed according to different production protocols.

  8. Consumer preferences for the predictive genetic test for Alzheimer disease.

    Science.gov (United States)

    Huang, Ming-Yi; Huston, Sally A; Perri, Matthew

    2014-04-01

    The purpose of this study was to assess consumer preferences for predictive genetic testing for Alzheimer disease in the United States. A rating conjoint analysis was conducted using an anonymous online survey distributed by Qualtrics to a general population panel in April 2011 in the United States. The study design included three attributes: Accuracy (40%, 80%, and 100%), Treatment Availability (Cure is available/Drug for symptom relief but no cure), and Anonymity (Anonymous/Not anonymous). A total of 12 scenarios were used to elicit people's preference, assessed by an 11-point scale. The respondents also indicated their highest willingness-to-pay (WTP) for each scenario through open-ended questions. A total of 295 responses were collected over 4 days. The most important attribute for the aggregate model was Accuracy, contributing 64.73% to the preference rating. Treatment Availability and Anonymity contributed 20.72% and 14.59%, respectively, to the preference rating. The median WTP for the highest-rating scenario (Accuracy 100%, a cure is available, test result is anonymous) was $100 (mean = $276). The median WTP for the lowest-rating scenario (40% accuracy, no cure but drugs for symptom relief, not anonymous) was zero (mean = $34). The results of this study highlight attributes people find important when making the hypothetical decision to obtain an AD genetic test. These results should be of interests to policy makers, genetic test developers and health care providers.

  9. Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism.

    Science.gov (United States)

    Xu, C; Lang-Muritano, M; Phan-Hug, F; Dwyer, A A; Sykiotis, G P; Cassatella, D; Acierno, J; Mohammadi, M; Pitteloud, N

    2017-08-01

    Neonatal micropenis and cryptorchidism raise the suspicion of congenital hypogonadotropic hypogonadism (CHH), a rare genetic disorder caused by gonadotropin-releasing hormone deficiency. Low plasma testosterone levels and low gonadotropins during minipuberty provide a clinical diagnostic clue, yet these tests are seldomly performed in general practice. We report a male neonate with no family history of reproductive disorders who was born with micropenis and cryptorchidism. Hormonal testing at age 2.5 months showed low testosterone (0.3 nmol/L) and undetectable gonadotropins (luteinizing hormone and follicle-stimulating hormone both <0.5 U/L), suggestive of CHH. Genetic testing identified a de novo, heterozygous mutation in fibroblast growth factor receptor 1 (FGFR1 p.L630P). L630 resides on the ATP binding cleft of the FGFR1 tyrosine kinase domain, and L630P is predicted to cause a complete loss of receptor function. Cell-based assays confirmed that L630P abolishes FGF8 signaling activity. Identification of a loss-of-function de novo FGFR1 mutation in this patient confirms the diagnosis of CHH, allowing for a timely hormonal treatment to induce pubertal development. Therefore, genetic testing can complement clinical and hormonal assessment for a timely diagnosis of CHH in childhood. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  10. [Prenatal genetic counseling and instruction for deaf families by genetic test].

    Science.gov (United States)

    Han, Ming-yu; Huang, Sha-sha; Wang, Guo-jian; Yuan, Yong-yi; Kang, Dong-yang; Zhang, Xin; Dai, Pu

    2011-11-01

    Analyzed the molecular pathogenesis of probands by means of genetic test and assisted the local Family Planning Institute by providing prenatal genetic counseling and instruction for deaf families who eager to have more baby. Total of forty-three deaf families were recruited by two institutes for family planning from Guangzhou and Weifang. Forty-two families had one deaf child with normal hearing parents. One family was that parents and their child were all deaf. Genetic testing of GJB2, SLC26A4 and mitochondrial DNA (mtDNA) 12SrRNA were firstly performed in probands and their parents, following medical history, physical examination, auditory test and CT scan of temporal bone were completed. And then the genetic information and instruction were provided to each deaf family. Fifteen of these 43 families had positive results of genetic test. In fifteen families, one family was confirmed that the parents and their child all carried homozygous GJB2 mutations and the recurrence risk was 100%. Twelve families were confirmed that the probands carried homozygous/compound GJB2 or SLC26A4 mutations while their parents were GJB2 or SLC26A4 carriers, and the recurrence risk was 25%. One family was confirmed that the proband, diagnosed with enlarged vestibular aqueduct syndrome (EVAS) by CT scan, carried heterozygous SLC26A4 mutation from the mother, and the recurrence risk was still 25% based on the hereditary pattern of EVAS although another SLC26A4 mutation from the father was not found. One family was confirmed that the proband carried a heterozygous GJB2 mutation from the mother and the possibility to be GJB2 carrier for offsprings was 50%. The rest 28 families were that all probands and their parents did not carry GJB2, SLC26A4 and mtDNA 12SrRNA pathological mutation. Genetic testing can provide more accurate and useful prenatal genetic counseling and instruction to deaf families. Meanwhile, it is an ideal way to develop a cooperative relationship with the institute for

  11. Professional challenges in cancer genetic testing: who is the patient?

    Science.gov (United States)

    Chan-Smutko, Gayun; Patel, Devanshi; Shannon, Kristen M; Ryan, Paula D

    2008-03-01

    In the genetic counseling setting, the health care provider can be challenged by opposing duties to members of the same family: protecting the privacy of the patient identified with a gene mutation and the ethical obligation to warn at-risk relatives. In a situation of nondisclosure between members of a family with a known disease-predisposing mutation, this type of dilemma can present in acute form for the provider who cares for different members of the family. This can hinder effective medical decision making. To minimize this effect, we recommend detailed pretest genetic counseling steps to empower the patient to communicate with their at-risk relatives their intent to pursue testing and willingness to share information. In addition, post-test counseling should reiterate the implications of a positive result for at-risk relatives and conclude with a written summary that patients can share with their family.

  12. Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis

    NARCIS (Netherlands)

    Dequeker, E; Cuppens, H; Dodge, J; Estivill, [No Value; Goossens, M; Pignatti, PF; Scheffer, H; Schwartz, M; Schwarz, M; Tummler, B; Cassiman, JJ

    These recommendations for quality improvement of cystic fibrosis genetic diagnostic testing provide general guidelines for the molecular genetic testing of cystic fibrosis in patients/individuals. General strategies for testing as well as guidelines for laboratory procedures, internal and external

  13. Difficult Questions and Ambivalent Answers on Genetic Testing

    OpenAIRE

    Andréa Wiszmeg; Susanne Lundin; Eva Torkelson; Niclas Hagen; Cecilia Lundberg

    2012-01-01

    A qualitative pilot study on the attitudes of some citizens in southern Sweden toward predictive genetic testing – and a quantitative nation wide opinion poll targeting the same issues, was initiated by the Cultural Scientific Research Team of BAGADILICO. The latter is an international biomedical research environment on neurological disease at Lund University. The data of the two studies crystallized through analysis into themes around which the informants’ personal negotiations of opinions a...

  14. Alphabet soup: making sense of genetic testing in CMT.

    Science.gov (United States)

    Lawson, Victoria; Gharibshahi, Shahram

    2010-09-01

    The diagnosis of inherited neuropathies can be challenging in several ways. First, a hereditary neuropathy must be suspected. Although some family histories are clear with multiple members affected, other families require directed inquiry. Second, even when a hereditary neuropathy is clear, it can be difficult to make a genetic characterization. The field of genotyping is expanding so rapidly, it is difficult to know what tests to order. The authors share their guidelines for the diagnosis of inherited neuropathies. © Thieme Medical Publishers.

  15. A Preliminary Field Test of an Employee Work Passion Model

    Science.gov (United States)

    Zigarmi, Drea; Nimon, Kim; Houson, Dobie; Witt, David; Diehl, Jim

    2011-01-01

    Four dimensions of a process model for the formulation of employee work passion, derived from Zigarmi, Nimon, Houson, Witt, and Diehl (2009), were tested in a field setting. A total of 447 employees completed questionnaires that assessed the internal elements of the model in a corporate work environment. Data from the measurements of work affect,…

  16. Preliminary test of two stump surface protectants against Fomes annosus.

    Science.gov (United States)

    E.E. Nelson; C.Y. Li

    1980-01-01

    Two materials, monolaurin (at two concentrations) and an unidentified species of the genus Streptomyces, were tested along with borax for ability to protect freshly cut stump surfaces of western hemlock (Tsuga heterophylla (Raf.) Sarg.) from colonization by Fomes annosus. Protectants were significantly (P...

  17. HIFiRE-5 Flight Test Preliminary Results (Postprint)

    Science.gov (United States)

    2013-11-01

    CFD . 15. SUBJECT TERMS Boundary layer transition, hypersonic , flight test 16. SECURITY CLASSIFICATION OF: 17. LIMITATION OF ABSTRACT: SAR 18...consistent with prior CFD 33,34 and wind tunnel measurements 28,29 at hypersonic conditions that indicated that the centerline is more unstable... Hypersonic Sciences Branch High Speed Systems Division NOVEMBER 2013 Approved for public release; distribution unlimited

  18. Automation of diagnostic genetic testing: mutation detection by cyclic minisequencing.

    Science.gov (United States)

    Alagrund, Katariina; Orpana, Arto K

    2014-01-01

    The rising role of nucleic acid testing in clinical decision making is creating a need for efficient and automated diagnostic nucleic acid test platforms. Clinical use of nucleic acid testing sets demands for shorter turnaround times (TATs), lower production costs and robust, reliable methods that can easily adopt new test panels and is able to run rare tests in random access principle. Here we present a novel home-brew laboratory automation platform for diagnostic mutation testing. This platform is based on the cyclic minisequecing (cMS) and two color near-infrared (NIR) detection. Pipetting is automated using Tecan Freedom EVO pipetting robots and all assays are performed in 384-well micro plate format. The automation platform includes a data processing system, controlling all procedures, and automated patient result reporting to the hospital information system. We have found automated cMS a reliable, inexpensive and robust method for nucleic acid testing for a wide variety of diagnostic tests. The platform is currently in clinical use for over 80 mutations or polymorphisms. Additionally to tests performed from blood samples, the system performs also epigenetic test for the methylation of the MGMT gene promoter, and companion diagnostic tests for analysis of KRAS and BRAF gene mutations from formalin fixed and paraffin embedded tumor samples. Automation of genetic test reporting is found reliable and efficient decreasing the work load of academic personnel.

  19. Perception of Genetic Testing for Deafness and Factors Associated with Interest in Genetic Testing Among Deaf People in a Selected Population in Sub-Saharan Africa.

    Science.gov (United States)

    Adedokun, Babatunde O; Yusuf, Bidemi O; Lasisi, J Taye; Jinadu, A A; Sunmonu, M T; Ashanke, A F; Lasisi, O Akeem

    2015-12-01

    Understanding the perceptions of genetic testing by members of the deaf community may help in planning deafness genetics research, especially so in the context of strong adherence to cultural values as found among native Africans. Among Yorubas in Nigeria, deafness is perceived to be caused by some offensive actions of the mother during pregnancy, spiritual attack, and childhood infections. We studied attitudes towards, and acceptance of genetic testing by the deaf community in Nigeria. Structured questionnaires were administered to individuals sampled from the Vocational Training Centre for the Deaf, the religious Community, and government schools, among others. The main survey items elicited information about the community in which the deaf people participate, their awareness of genetic testing, whether or not they view genetic testing as acceptable, and their understanding of the purpose of genetic testing. There were 150 deaf participants (61.3 % males, 38.7 % females) with mean age of 26.7 years ±9.8. A majority of survey respondents indicated they relate only with other members of the deaf community (78 %) and reported believing genetic testing does more good than harm (79.3 %); 57 % expressed interest in genetic testing. Interest in genetic testing for deafness or in genetic testing in pregnancy was not related to whether respondents relate primarily to the deaf or to the hearing community. However, a significantly higher number of male respondents and respondents with low education reported interest in genetic testing.

  20. Semantic Verbal Fluency test in dementia: Preliminary retrospective analysis

    Directory of Open Access Journals (Sweden)

    Marcos Lopes

    Full Text Available Abstract The Semantic Verbal Fluency (SVF test entails the generation of words from a given category within a pre-set time of 60 seconds. Objectives: To verify whether socio-demographic and clinical data of individuals with dementia correlate with the performance on the SVF test and to ascertain whether differences among the criteria of number of answers, clusters and data spread over the intervals, predict clinical results. Methods: This was a retrospective study of 49 charts of demented patients classified according to the Clinical Dementia Rating (CDR scale. We correlated education, age and gender, as well as CDR and Mini-Mental State Exam (MMSE scores with the number of answers, clustering and switching distributed over four 15-second intervals on the SVF test. Results: The correlation between number of answers and quartiles was weak (r=0.407, p=0.004; r=0.484, p<0.001 but correlation between the number of clusters and responses was strong (r=0.883, p<0.001. The number of items on the SVF was statistically significant with MMSE score (p=0.01 and there was a tendency for significance on the CDR (p=0.06. The results indicated little activity regarding what we propose to call cluster recalling in the two groups. Discussion: The SVF test, using number of items generated, was found to be more effective than classic screening tests in terms of speed and ease of application in patients with CDR 2 and 3.

  1. Genetic line comparisons and genetic parameters for endoparasite infections and test-day milk production traits.

    Science.gov (United States)

    May, Katharina; Brügemann, Kerstin; Yin, Tong; Scheper, Carsten; Strube, Christina; König, Sven

    2017-09-01

    Keeping dairy cows in grassland systems relies on detailed analyses of genetic resistance against endoparasite infections, including between- and within-breed genetic evaluations. The objectives of this study were (1) to compare different Black and White dairy cattle selection lines for endoparasite infections and (2) the estimation of genetic (co)variance components for endoparasite and test-day milk production traits within the Black and White cattle population. A total of 2,006 fecal samples were taken during 2 farm visits in summer and autumn 2015 from 1,166 cows kept in 17 small- and medium-scale organic and conventional German grassland farms. Fecal egg counts were determined for gastrointestinal nematodes (FEC-GIN) and flukes (FEC-FLU), and fecal larvae counts for the bovine lungworm Dictyocaulus viviparus (FLC-DV). The lowest values for gastrointestinal nematode infections were identified for genetic lines adopted to pasture-based production systems, especially selection lines from New Zealand. Heritabilities were low for FEC-GIN (0.05-0.06 ± 0.04) and FLC-DV (0.05 ± 0.04), but moderate for FEC-FLU (0.33 ± 0.06). Almost identical heritabilities were estimated for different endoparasite trait transformations (log-transformation, square root). The genetic correlation between FEC-GIN and FLC-DV was 1.00 ± 0.60, slightly negative between FEC-GIN and FEC-FLU (-0.10 ± 0.27), and close to zero between FLC-DV and FEC-FLU (0.03 ± 0.30). Random regression test-day models on a continuous time scale [days in milk (DIM)] were applied to estimate genetic relationships between endoparasite and longitudinal test-day production traits. Genetic correlations were negative between FEC-GIN and milk yield (MY) until DIM 85, and between FEC-FLU and MY until DIM 215. Genetic correlations between FLC-DV and MY were negative throughout lactation, indicating improved disease resistance for high-productivity cows. Genetic relationships between FEC-GIN and FEC-FLU with milk

  2. Genetic Predictors of Fatigue in Prostate Cancer Patients Treated with Androgen Deprivation Therapy: Preliminary Findings

    Science.gov (United States)

    Jim, Heather S.L.; Park, Jong Y.; Permuth-Wey, Jennifer; Rincon, Maria A.; Phillips, Kristin M.; Small, Brent J.; Jacobsen, Paul B.

    2012-01-01

    Background Fatigue is a common and distressing side effect of androgen deprivation therapy (ADT) for prostate cancer. The goal of the current study was to examine the relationship between changes in fatigue following initiation of ADT and single nucleotide polymorphisms (SNPs) in three pro-inflammatory cytokine genes: interleukin-1 beta (IL1B), interleukin-6 (IL6), and tumor necrosis factor alpha (TNFA). Methods As part of a larger study, men with prostate cancer (n=53) were recruited prior to initiation of ADT. Fatigue was assessed at recruitment and six months after initiation of ADT. DNA was extracted from blood drawn at baseline. Results Patients with the IL6-174 (rs1800795) G/C or C/C genotype displayed greater increases in fatigue intrusiveness, frequency, and duration than the G/G genotype (p values≤0.05), although inclusion of age, race, and baseline depressive symptomatology in the model attenuated these relationships (p values≤0.09). Patients with the TNFA-308 (rs1800629) G/A genotype showed greater increases in fatigue severity than the G/G genotype (p=0.02). IL1B-511 (rs16944) genotype did not significantly predict changes in fatigue (p values>0.46). Patients with higher numbers of variants displayed greater increases in fatigue duration and interference (p values≤0.02) than patients with lower numbers of variants. Conclusions Prostate cancer patients treated with ADT who carry variant alleles of the IL6 and TNFA genes are susceptible to heightened fatigue. These preliminary data lend support for the role of genetic variation in the development of cancer-related fatigue secondary to ADT. Findings are relevant to attempts to develop personalized approaches to cancer treatment. PMID:22475653

  3. GRIST-2 preliminary test plan and requirements for fuel fabrication and preirradiation

    International Nuclear Information System (INIS)

    Tang, I.M.; Harmon, D.P.; Torri, A.

    1978-12-01

    The preliminary version of the GRIST-2 test plan has been developed for the planned initial 5 years (1984 to 1989) of TREAT-Upgrade in-pile tests. These tests will be employed to study the phenomenology and integral behavior of GCFR core disruptive accidents (CDAs) and to support the Final Safety Analysis Report (FSAR) CDA analyses for the demonstration plant licensing. The preliminary test plan is outlined. Test Phases I and II are for the fresh fuel (preconditioned or not) CDA behavior at the beginning-of-life (BOL) reactor state. Phase III is for the reactor state that contains irradiated fuel with a saturated content of helium and fission gas. Phase IV is for larger bundle tests and scaling effects

  4. Preliminary testing of the Scanning Laser Environmental Airborne Fluorosensor

    International Nuclear Information System (INIS)

    Brown, C.E.; Marois, R.; Fingas, M.F.; Mullin, J.V.

    2000-01-01

    The installation and testing program of the Scanning Laser Environmental Airborne Fluorosensor (SLEAF) on Environment Canada's DC-3 aircraft was described and the capabilities of the new system were presented. SLEAF is a new generation of laser fluorosensor designed to provide prompt reliable detection and mapping of oil pollution in different marine and terrestrial environments. It consists of a high-power excimer laser, high-resolution range-gated intensified diode-array spectrometer, and a pair of variable speed and angular displacement scanning mirrors. SLEAF is capable of detecting narrow bands of oil that can pile up along the high tide lines of beaches and shorelines, including those that contain ice and snow. It also has the added benefit of providing real-time detection. SLEAF will be declared operational for emergency response personnel when the initial test flight program will be completed in the near future. 9 refs., 2 figs

  5. Preliminary Results of Testing of Flow Effects on Evaporator Scaling

    Energy Technology Data Exchange (ETDEWEB)

    Hu, M.Z.

    2002-02-15

    This investigation has focused on the effects of fluid flow on solids deposition from solutions that simulate the feed to the 2H evaporator at the Savannah River Site. Literature studies indicate that the fluid flow (or shear) affects particle-particle and particle-surface interactions and thus the phenomena of particle aggregation in solution and particle deposition (i.e., scale formation) onto solid surfaces. Experimental tests were conducted with two configurations: (1) using a rheometer to provide controlled shear conditions and (2) using controlled flow of reactive solution through samples of stainless steel tubing. All tests were conducted at 80 C and at high silicon and aluminum concentrations, 0.133 M each, in solutions containing 4 M sodium hydroxide and 1 A4 each of sodium nitrate and sodium nitrite. Two findings from these experiments are important for consideration in developing approaches for reducing or eliminating evaporator scaling problems: (1) The rheometer tests suggested that for the conditions studied, maximum solids deposition occurs at a moderate shear rate, approximately 12 s{sup -1}. That value is expected to be on the order of shear rates that will occur in various parts of the evaporator system; for instance, a 6 gal/min single-phase liquid flow through the 2-in. lift or gravity drain lines would result in a shear rate of approximately 16 s{sup -1}. These results imply that engineering approaches aimed at reducing deposits through increased mixing would need to generate shear near all surfaces significantly greater than 12 s{sup -1}. However, further testing is needed to set a target value for shear that is applicable to evaporator operation. This is because the measured trend is not statistically significant at the 95% confidence interval due to variability in the results. In addition, testing at higher temperatures and lower concentrations of aluminum and silicon would more accurately represent conditions in the evaporator. Without

  6. East Area Irradiation Test Facility: Preliminary FLUKA calculations

    CERN Document Server

    Lebbos, E; Calviani, M; Gatignon, L; Glaser, M; Moll, M; CERN. Geneva. ATS Department

    2011-01-01

    In the framework of the Radiation to Electronics (R2E) mitigation project, the testing of electronic equipment in a radiation field similar to the one occurring in the LHC tunnel and shielded areas to study its sensitivity to single even upsets (SEU) is one of the main topics. Adequate irradiation test facilities are therefore required, and one installation is under consideration in the framework of the PS East area renovation activity. FLUKA Monte Carlo calculations were performed in order to estimate the radiation field which could be obtained in a mixed field facility using the slowly extracted 24 GeV/c proton beam from the PS. The prompt ambient dose equivalent as well as the equivalent residual dose rate after operation was also studied and results of simulations are presented in this report.

  7. Preliminary results of durability testing with borosilicate glass compositions

    International Nuclear Information System (INIS)

    Adel-Hadadi, M.; Adiga, R.; Barkatt, Aa.

    1987-01-01

    This is a report on the first year of research conducted at the Vitreous State Laboratory of the Catholic University of America in support of the West Valley Demonstration Project. One objective is the vitrification of liquid waste generated by previous nuclear fuel reprocessing. This work has been directed principally at the problem of glass composition optimization. This has necessitated the development of a coordinated program of glass production, durability measurements, and processability assessment. A small-scale continuous melter has been constructed for melting uranium and thorium containing glasses and for studying glass processing characteristics. Glass viscosities have been measured over a range of temperatures. A large number of glasses have also been produced in small crucible melts. Glass durability has been assessed using four types of leach tests: MCC-3, MCC-1, IAEA/ISO, and pulsed-flow tests. Extensive data from these tests are reported. The data have led to the design of very durable glasses (comparable to the Savannah River Laboratory Defense Waste Reference Glass) which have the requisite waste loading and processing characteristics. 14 refs., 4 figs., 77 tabs

  8. Fast electrochemical membrane actuator: Design, fabrication and preliminary testing

    Science.gov (United States)

    Uvarov, I. V.; Postnikov, A. V.; Shlepakov, P. S.; Naumov, V. V.; Koroleva, O. M.; Izyumov, M. O.; Svetovoy, V. B.

    2017-11-01

    An actuator based on water electrolysis with a fast change of voltage polarity is presented. It demonstrates a new actuation principle allowing significant increase the operation frequency of the device due to fast termination of the produced gas. The actuator consists of a working chamber with metallic electrodes and supplying channels filled with an electrolyte. The chamber is formed in a layer of SU-8 and covered by a flexible polydimethylsiloxane membrane, which deforms as the pressure in the chamber increases. Design, fabrication procedure, and first tests of the actuator are described.

  9. Preliminary Results of Breakwater Round-Head Tests

    DEFF Research Database (Denmark)

    Burcharth, H. F.; Liu, Z.

    1995-01-01

    The rational design diagram for Dolos armour should incorporate both the hydraulic stability and the structural integrity. The previous tests performed by Aalborg University (AU) made available such design diagram for the trunk of Dolos breakwater without superstructures (Burcharth et al. 1992). ...... layer will be generated. Furthermore, Task IA will give the design diagram for the trunk of Tetrapod breakwaters. The more complete research results on Dolosse can certainly give some insight into the behaviour of Tetrapods armour layer of the breakwaters with superstructure....

  10. Non-genetic health professionals' attitude towards, knowledge of and skills in discussing and ordering genetic testing for hereditary cancer

    NARCIS (Netherlands)

    Douma, Kirsten F. L.; Smets, Ellen M. A.; Allain, Dawn C.

    2016-01-01

    Non-genetic health professionals (NGHPs) have insufficient knowledge of cancer genetics, express educational needs and are unprepared to counsel their patients regarding their genetic test results. So far, it is unclear how NGHPs perceive their own communication skills. This study was undertaken to

  11. Direct to consumer genetic testing and the libertarian right to test.

    Science.gov (United States)

    Loi, Michele

    2016-09-01

    I sketch a libertarian argument for the right to test in the context of 'direct to consumer' (DTC) genetic testing. A libertarian right to genetic tests, as defined here, relies on the idea of a moral right to self-ownership. I show how a libertarian right to test can be inferred from this general libertarian premise, at least as a prima facie right, shifting the burden of justification on regulators. I distinguish this distinctively libertarian position from some arguments based on considerations of utility or autonomy, which are sometimes labelled 'libertarian' because they oppose a tight regulation of the direct to consumer genetic testing sector. If one takes the libertarian right to test as a starting point, the whole discussion concerning autonomy and personal utility may be sidestepped. Finally, I briefly consider some considerations that justify the regulation of the DTC genetic testing market, compatible with the recognition of a prima facie right to test. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  12. Improving diagnosis for congenital cataract by introducing NGS genetic testing.

    Science.gov (United States)

    Musleh, Mohammud; Ashworth, Jane; Black, Graeme; Hall, Georgina

    2016-01-01

    Childhood cataract (CC) has an incidence of 3.5 per 10,000 by age 15 years. Diagnosis of any underlying cause is important to ensure effective and prompt management of multisystem complications, to facilitate accurate genetic counselling and to streamline multidisciplinary care. Next generation sequencing (NGS) has been shown to be effective in providing an underlying diagnosis in 70% of patients with CC in a research setting. This project aimed to integrate NGS testing in CC within six months of presentation and increase the rate of diagnosis. A retrospective case note review was undertaken to define the baseline efficacy of current care in providing a precise diagnosis. Quality improvement methods were used to integrate and optimize NGS testing in clinical care and measure the improvements made. The percentage of children receiving an NGS result within six months increased from 26% to 71% during the project period. The mean time to NGS testing and receiving a report decreased and there was a reduction in variation over the study period. Several patients and families had a change in management or genetic counselling as a direct result of the diagnosis given by the NGS test. The current recommended investigation of patients with bilateral CC is ineffective in identifying a diagnosis. Quality Improvement methods have facilitated successful integration of NGS testing into clinical care, improving time to diagnosis and leading to development of a new care pathway.

  13. Preliminary Design of the Liquid Lead Corrosion Test Loop

    International Nuclear Information System (INIS)

    Cho, Chung Ho; Cha, Jae Eun; Cho, Choon Ho; Song, Tae Yung; Kim, Hee Reyoung

    2005-01-01

    Recently, Lead-Bismuth Eutectic (LBE) or Lead has newly attracted considerable attraction as a coolant to get the more inherent safety. Above all, LBE is preferred as the coolant and target material for an Accelerator-Driven System (ADS) due to its high production rate of neutrons, effective heat removal, and good radiation damage properties. But, the LBE or Lead as a coolant has a challenging problem that the LBE or Lead is more corrosive to the construction materials and fuel cladding material than the sodium because the solubility of Ni, Cr and Fe is high. After all, the LBE or Lead corrosion has been considered as an important design limit factor of ADS and Liquid Metal cooled Fast Reactors (LMFR). The Korea Atomic Energy Research Institute (KAERI) has been developing an ADS called HYPER. HYPER is designed to transmute Transuranics (TRU), Tc-99 and I-129 coming from Pressurized Water Reactors (PWRs) and uses an LBE as a coolant and target material. Also, an experimental apparatuses for the compatibility of fuel cladding and structural material with the LBE or Lead are being under the construction or design. The main objective of the present paper is introduction of Lead corrosion test loop which will be built the upside of the LBE corrosion test loop by the end of October of 2005

  14. Preliminary test of vacuum system of SPring-8 synchrotron

    International Nuclear Information System (INIS)

    Otsuka, Hideo; Yoneyama, Katsuji; Shimada, Taihei

    1992-01-01

    In this report, on the several points which it is desirable to be confirmed beforehand when the vacuum system of the synchrotron is designed, the results of the test by making the vacuum system for one normal cell simulating the actual machine are reported. Further by making three types of sample ducts, the ordinary type of 1.65 mm thickness, the rib-reinforced type of 0.3 mm thickness and bellows structure, the rate of released gas and the effect to eddy current were examined, for the purpose of taking the countermeasures to the eddy current accompanying the synchrotron operation. The mockup of the normal cell was composed of a duct of 10 m length, two ion pumps of 20 l/s, and a turbo molecular pump of 50 l/s, and the material of the ducts is SUS316L, and the sectional form is elliptic of 72 x 34. In the vacuum test of the normal cell, the exhaust characteristics at the time of rise and pressure distribution were verified. The measurement of the rate of released gas in the ducts and the measurement of current and voltage induced in the ducts are reported. The sufficient performance can be expected with the exhaust system used, and the time required for the rise of the vacuum system was clarified. (K.I.)

  15. [Malignant Melanoma - from Classical Histology towards Molecular Genetic Testing].

    Science.gov (United States)

    Ryška, A; Horký, O; Berkovcová, J; Tichá, I; Kalinová, M; Matějčková, M; Bóday, Á; Drábek, J; Martínek, P; Šimová, J; Sieglová, K; Vošmiková, H

    Malignant melanoma is - in comparison with other skin tumors - a relatively rare malignant neoplasm with highly aggressive biologic behavior and variable prognosis. Recent data in pathology and molecular diagnostics indicate that malignant melanoma is in fact not a single entity but a group of different neoplasms with variable etiopathogenesis, biologic behavior and prognosis. New therapeutic options using targeted treatment blocking MAPK signaling pathway require testing of BRAF gene mutation status. This helps to select patients with highest probability of benefit from this treatment. This article summarizes information on the correlation of morphological findings with genetic changes, discusses the representation of individual genetic types in various morphological subgroups and deals with the newly proposed genetic classification of melanoma and the current possibilities, pitfalls and challenges in BRAF testing of malignant melanoma. It also describes the current testing situation in the Czech Republic - the methods used, the representation of BRAF mutations in the tested population and the future of testing. It also shows the limitations of the BRAF and MEK targeted treatment concept resulting from the heterogeneity of the tumor population. Mechanisms of acquired resistance to MAPK pathway inhibitors, possibilities of their detection, and issues of combination of targeted therapy and immunotherapy are discussed.Key words: malignant melanoma - BRAF - mutation - molecular targeted therapy - tumor microenvironment - tumor heterogeneity This work was supported by projects PROGRES Q40/11, BBMRICZ LM2015089, SVV 260398 and GACR 17-10331S. The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers.Submitted: 28. 3. 2017Accepted: 16. 5. 2017.

  16. Preliminary interpretation of thermal data from the Nevada Test Site

    International Nuclear Information System (INIS)

    Sass, J.H.; Lachenbruch, A.H.

    1982-01-01

    Analysis of data from 60 wells in and around the Nevada Test Site, including 16 in the Yucca Mountain area, indicates a thermal regime characterized by large vertical and lateral gradients in heat flow. Estimates of heat flow indicate considerable variation on both regional and local scales. The variations are attributable primarily to hydrologic processes involving interbasin flow with a vertical component of (seepage) velocity (volume flux) of a few mm/yr. Apart from indicating a general downward movement of water at a few mm/yr, the reults from Yucca Mountain are as yet inconclusive. The purpose of the study was to determine the suitability of the area for proposed repository sites

  17. Sizing and preliminary hardware testing of solar powered UAV

    Directory of Open Access Journals (Sweden)

    S. Jashnani

    2013-12-01

    Full Text Available Integrating solar energy into modern aircraft technology has been a topic of interest and has received a lot of attention from researchers over the last two decades. A few among the many potential applications of this technology are the possibility of continuous self sustained flight for purposes such as information relay, surveillance and monitoring. This paper discusses the altitude and payload mass, as independent parameters, and their influence on the size and design of the aircraft. To estimate available solar power, two different models have been presented; one for low altitudes and the other for high altitudes. An engineering ground model was built to simulate the power and propulsion system over 24 h of continuous operation. The paper presents data from tests performed till date and lessons learnt while dealing with the construction of the engineering ground model as well as changes that can be made to improve the design.

  18. Testing evolutionary hypotheses for phenotypic divergence using landscape genetics.

    Science.gov (United States)

    Funk, W Chris; Murphy, Melanie A

    2010-02-01

    Understanding the evolutionary causes of phenotypic variation among populations has long been a central theme in evolutionary biology. Several factors can influence phenotypic divergence, including geographic isolation, genetic drift, divergent natural or sexual selection, and phenotypic plasticity. But the relative importance of these factors in generating phenotypic divergence in nature is still a tantalizing and unresolved problem in evolutionary biology. The origin and maintenance of phenotypic divergence is also at the root of many ongoing debates in evolutionary biology, such as the extent to which gene flow constrains adaptive divergence (Garant et al. 2007) and the relative importance of genetic drift, natural selection, and sexual selection in initiating reproductive isolation and speciation (Coyne & Orr 2004). In this issue, Wang & Summers (2010) test the causes of one of the most fantastic examples of phenotypic divergence in nature: colour pattern divergence among populations of the strawberry poison frog (Dendrobates pumilio) in Panama and Costa Rica (Fig. 1). This study provides a beautiful example of the use of the emerging field of landscape genetics to differentiate among hypotheses for phenotypic divergence. Using landscape genetic analyses, Wang & Summers were able to reject the hypotheses that colour pattern divergence is due to isolation-by-distance (IBD) or landscape resistance. Instead, the hypothesis left standing is that colour divergence is due to divergent selection, in turn driving reproductive isolation among populations with different colour morphs. More generally, this study provides a wonderful example of how the emerging field of landscape genetics, which has primarily been applied to questions in conservation and ecology, now plays an essential role in evolutionary research.

  19. Preliminary Process Theory does not validate the Comparison Question Test: A comment on Palmatier and Rovner

    NARCIS (Netherlands)

    Ben-Shakar, G.; Gamer, M.; Iacono, W.; Meijer, E.; Verschuere, B.

    2015-01-01

    Palmatier and Rovner (2015) attempt to establish the construct validity of the Comparison Question Test (CQT) by citing extensive research ranging from modern neuroscience to memory and psychophysiology. In this comment we argue that merely citing studies on the preliminary process theory (PPT) of

  20. Test for Nonlinear Input Output Relations in SISO Systems by Preliminary Data Analysis

    DEFF Research Database (Denmark)

    Knudsen, Torben

    2000-01-01

    This paper discusses and develops preliminary statistical tests for detecting nonlinearities in the deterministic part of SISO systems with noise. The most referenced method is unreliable for common noise processes as e.g.\\ colored. Therefore two new methods based on superposition and sinus input...

  1. Preliminary results on tests of a Cerenkov ring imaging device employing a photoionizing PWC

    Energy Technology Data Exchange (ETDEWEB)

    Durkin, S.; Honma, A.; Leith, D.W.G.S.

    1978-08-01

    A brief description of techniques and problems of ring imaging Cerenkov detectors employing photoionizing PWC's is discussed. Preliminary results on a one dimensional ring imaging device tested at SLAC in May and June of 1978 are then presented. These results include rough measurements of the Cerenkov ring in nitrogen, argon, neon, and helium produced by a collimated positron beam.

  2. Preliminary results of the round-robin testing of F82H

    Energy Technology Data Exchange (ETDEWEB)

    Shiba, K.; Yamanouchi, N.; Tohyama, A.

    1996-10-01

    Preliminary results of metallurgical, physical and mechanical properties of low activation ferritic steel F82H (IEA heat) were obtained in the round-robin test in Japan. The properties of IEA heat F82H were almost the same as the original F82H.

  3. Evaluation of the preliminary auditory profile test battery in an international multi-centre study

    NARCIS (Netherlands)

    van Esch, T.E.M.; Kollmeier, B.; Vormann, M.; Lijzenga, J.; Houtgast, T.; Hallgren, M.; Larsby, B.; Athalye, S.P.; Lutman, M.E.; Dreschler, W.A.

    2013-01-01

    Objective: This paper describes the composition and international multi-centre evaluation of a battery of tests termed the preliminary auditory profile. It includes measures of loudness perception, listening effort, speech perception, spectral and temporal resolution, spatial hearing, self-reported

  4. Test- and behavior-specific genetic factors affect WKY hypoactivity in tests of emotionality.

    Science.gov (United States)

    Baum, Amber E; Solberg, Leah C; Churchill, Gary A; Ahmadiyeh, Nasim; Takahashi, Joseph S; Redei, Eva E

    2006-05-15

    Inbred Wistar-Kyoto rats consistently display hypoactivity in tests of emotional behavior. We used them to test the hypothesis that the genetic factors underlying the behavioral decision-making process will vary in different environmental contexts. The contexts used were the open-field test (OFT), a novel environment with no explicit threats present, and the defensive-burying test (DB), a habituated environment into which a threat has been introduced. Rearing, a voluntary behavior was measured in both tests, and our study was the first to look for genetic loci affecting grooming, a relatively automatic, stress-responsive stereotyped behavior. Quantitative trait locus analysis was performed on a population of 486 F2 animals bred from reciprocal inter-crosses. The genetic architectures of DB and OFT rearing, and of DB and OFT grooming, were compared. There were no common loci affecting grooming behavior in both tests. These different contexts produced the stereotyped behavior via different pathways, and genetic factors seem to influence the decision-making pathways and not the expression of the behavior. Three loci were found that affected rearing behavior in both tests. However, in both contexts, other loci had greater effects on the behavior. Our results imply that environmental context's effects on decision-making vary depending on the category of behavior.

  5. Points to consider for prioritizing clinical genetic testing services

    DEFF Research Database (Denmark)

    Severin, Franziska; Borry, Pascal; Cornel, Martina C

    2015-01-01

    Given the cost constraints of the European health-care systems, criteria are needed to decide which genetic services to fund from the public budgets, if not all can be covered. To ensure that high-priority services are available equitably within and across the European countries, a shared set...... testing services available in the next decade. Ethically and economically reflected prioritization criteria are needed. Prioritization should be based on considerations of medical benefit, health need and costs. Medical benefit includes evidence of benefit in terms of clinical benefit, benefit......, following the principles of accountability for reasonableness. We provide points to consider to stimulate this debate across the EU and to serve as a reference for improving patient management.European Journal of Human Genetics advance online publication, 24 September 2014; doi:10.1038/ejhg.2014.190....

  6. Current problems regarding abortion, prenatal genetic testing and managing pregnancy

    Directory of Open Access Journals (Sweden)

    Klajn-Tatić Vesna

    2011-01-01

    Full Text Available Current ethical and legal issues with regard to abortion, prenatal genetic testing and managing pregnancy are discussed in this paper. These problems are considered from the legal theory point of view as well as from the standpoint of the Serbian Law, the European Convention for the Protection of Human Rights and Fundamental Freedoms, European Court of Human Rights, legal regulations of several EU countries, the USA, Japan, and their judicial practice. First, the pregnancy termination standards that exist in Serbia are introduced. Then the following issues are explained separately: the pro life and pro choice approaches to abortion; abortion according to the legal approach as a way of survival; the moral and legal status of the fetus; prenatal genetic testing, and finally matters regarding managing pregnancy today. Moral and legal principals of autonomy, namely freedom of choice of the individual, privacy and self-determination give women the right to terminate unwanted pregnancies. In addition, the basic question is whether the right of the woman to abortion clashes with the rights of others. Firstly, with the right of the "fetus to life". Secondly, with the right of the state to intervene in the interest of protecting "the life of the fetus". Third, with the rights of the woman’s partner. The fetus has the moral right to life, but less in relation to the same right of the woman as well as in relation to her right to control her life and her physical and moral integrity. On the other hand, the value of the life of the fetus increases morally and legally with the maturity of gestation; from the third trimester, the interest of the state prevails in the protection of the "life of the fetus" except when the life or health of the pregnant woman are at risk. As regards the rights of the woman’s partner, namely the husband’s opinion, there is no legal significance. The law does not request his participation in the decision on abortion because

  7. Significance testing in ridge regression for genetic data

    Directory of Open Access Journals (Sweden)

    De Iorio Maria

    2011-09-01

    Full Text Available Abstract Background Technological developments have increased the feasibility of large scale genetic association studies. Densely typed genetic markers are obtained using SNP arrays, next-generation sequencing technologies and imputation. However, SNPs typed using these methods can be highly correlated due to linkage disequilibrium among them, and standard multiple regression techniques fail with these data sets due to their high dimensionality and correlation structure. There has been increasing interest in using penalised regression in the analysis of high dimensional data. Ridge regression is one such penalised regression technique which does not perform variable selection, instead estimating a regression coefficient for each predictor variable. It is therefore desirable to obtain an estimate of the significance of each ridge regression coefficient. Results We develop and evaluate a test of significance for ridge regression coefficients. Using simulation studies, we demonstrate that the performance of the test is comparable to that of a permutation test, with the advantage of a much-reduced computational cost. We introduce the p-value trace, a plot of the negative logarithm of the p-values of ridge regression coefficients with increasing shrinkage parameter, which enables the visualisation of the change in p-value of the regression coefficients with increasing penalisation. We apply the proposed method to a lung cancer case-control data set from EPIC, the European Prospective Investigation into Cancer and Nutrition. Conclusions The proposed test is a useful alternative to a permutation test for the estimation of the significance of ridge regression coefficients, at a much-reduced computational cost. The p-value trace is an informative graphical tool for evaluating the results of a test of significance of ridge regression coefficients as the shrinkage parameter increases, and the proposed test makes its production computationally feasible.

  8. Mont-Terri heater test: design and preliminary results

    International Nuclear Information System (INIS)

    Garcia-Sineriz, J.L.; Fuentes, J.L.; Mayor, J.C.; Huertas, F.

    2003-01-01

    for national HLW management (ENRESA, Spain; and NAGRA, Switzerland); one governmental institution (BGR, Germany); one independent scientific-technical expert organisation (GRS, Germany); two universities (UPC (represented by CIMNE-DIT), Spain and ETH, Switzerland); and one private, non-profit research organisation (AITEMIN, Spain), which carried out the installation and the supervision of that experiment. The HE installation was finished in 1999 and the project has been running since then. The experiment was designed to operate basically in an unattended mode, with remote supervision and control via modem. However, some of the planned instruments require manual reading. The paper describes the objectives of the test, its configuration, and the experience gained so far. (authors)

  9. Preliminary hazard analysis for the Brayton Isotope Ground Demonstration System (including vacuum test chamber)

    International Nuclear Information System (INIS)

    Miller, L.G.

    1975-01-01

    The Preliminary Hazard Analysis (PHA) of the BIPS-GDS is a tabular summary of hazards and undesired events which may lead to system damage or failure and/or hazard to personnel. The PHA reviews the GDS as it is envisioned to operate in the Vacuum Test Chamber (VTC) of the GDS Test Facility. The VTC and other equipment which will comprise the test facility are presently in an early stage of preliminary design and will undoubtedly undergo numerous changes before the design is frozen. The PHA and the FMECA to follow are intended to aid the design effort by identifying areas of concern which are critical to the safety and reliability of the BIPS-GDS and test facility

  10. Preliminary Failure Modes and Effects Analysis of the US DCLL Test Blanket Module

    Energy Technology Data Exchange (ETDEWEB)

    Lee C. Cadwallader

    2010-06-01

    This report presents the results of a preliminary failure modes and effects analysis (FMEA) of a small tritium-breeding test blanket module design for the International Thermonuclear Experimental Reactor. The FMEA was quantified with “generic” component failure rate data, and the failure events are binned into postulated initiating event families and frequency categories for safety assessment. An appendix to this report contains repair time data to support an occupational radiation exposure assessment for test blanket module maintenance.

  11. Preliminary Failure Modes and Effects Analysis of the US DCLL Test Blanket Module

    Energy Technology Data Exchange (ETDEWEB)

    Lee C. Cadwallader

    2007-08-01

    This report presents the results of a preliminary failure modes and effects analysis (FMEA) of a small tritium-breeding test blanket module design for the International Thermonuclear Experimental Reactor. The FMEA was quantified with “generic” component failure rate data, and the failure events are binned into postulated initiating event families and frequency categories for safety assessment. An appendix to this report contains repair time data to support an occupational radiation exposure assessment for test blanket module maintenance.

  12. Preliminary Failure Modes and Effects Analysis of the US DCLL Test Blanket Module

    International Nuclear Information System (INIS)

    Lee C. Cadwallader

    2007-01-01

    This report presents the results of a preliminary failure modes and effects analysis (FMEA) of a small tritium-breeding test blanket module design for the International Thermonuclear Experimental Reactor. The FMEA was quantified with 'generic' component failure rate data, and the failure events are binned into postulated initiating event families and frequency categories for safety assessment. An appendix to this report contains repair time data to support an occupational radiation exposure assessment for test blanket module maintenance

  13. Genetic testing for cystic fibrosis in adult patients

    Directory of Open Access Journals (Sweden)

    Marina Mencinger

    2006-02-01

    Full Text Available Background: Cystic fibrosis (CF is an autosomal recessive disease caused by mutations in gene encoding cystic fibrosis transmembrane regulator (CFTR protein. Over 1400 mutations found in the gene contribute to the complexity of the CF phenotypes ranging from a classic multiorgan disease commonly involving respiratory, gastrointestinal and reproductive tract to mild and monosymptomatic presentations. Pilocarpine iontophoresis is considered as standard diagnostic test for CF, but it often fails in atypical forms of CF.Methods: In order to provide an additional diagnostic test to assure the diagnosis and provide patients with a proper medical care, we performed a genetic testing on 16 adults suspected to have atypical form of CF. Following counselling, parents of patients with possible homozygote variant of mutations were tested. On a personal request testing was also performed in an adult sibling of a patient with two known mutations to investigate possible carrier hood. The allele specific polymerase chain reaction method (PCR was used to detect 29 most common mutations in the cftr gene.Results: The diagnosis was proved in 3 individuals, a homozygote for Δ F508, and two compound heterozygotes Δ F508/R1162X and Δ F508/3849+10kbC>T. In three cases only one mutation was found: I148T, 2789+5G>A and Δ F508 in a heterozygote form.Conclusions: The genetic testing for CF is a valuable diagnostic tool in atypical forms of CF. Exclusion of possible differential diagnosis is warranted because of a variable CF phenotype. In cases where only one or no mutation was detected a necessity of whole gene sequencing is indicated to exclude rare mutations and polymorphisms that could be implicated in the pathogenesis of atypical CF.

  14. [Population genetic study of Russian cosmonauts and test subjects: genetic demographic parameters and immunogenetic markers].

    Science.gov (United States)

    Kurbatova, O L; Pobedonostseva, E Iu; Prokhorovskaia, V D; Kholod, O N; Evsiukov, A N; Bogomolov, V V; Voronkov, Iu I; Filatova, L M; Larina, O N; Sidorenko, L A; Morgun, V V; Kasparanskiĭ, R R; Altukhov, Iu P

    2006-10-01

    Genetic demographic characteristics and immunogenetic markers (blood groups ABO, Rhesus, MNSs, P, Duffy, Kidd, and Kell) have been studied in a group of 132 Russian cosmonauts and test subjects (CTSG). Analysis of pedigrees has shown a high exogamy in the preceding generations: almost half of the subjects have mixed ethnic background. According to the results of genetic demographic analysis, a sample from the Moscow population was used as control group (CG). Comparison between the CTSG and CG has demonstrated significant differences in genotype frequencies for several blood group systems. The CTSG is characterized by a decreased proportion of rare interlocus genotypic combinations and an increased man heterozygosity. Analysis of the distributions of individual heterozygosity for loci with codominant expression of alleles has shown that highly heterozygous loci are more frequent in the CTSG. Taking into account that the CTSG has been thoroughly selected from the general population, it is concluded that heterozygosity is related to successful adaptation to a space flight.

  15. An Adaptive Test Sheet Generation Mechanism Using Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Huan-Yu Lin

    2012-01-01

    Full Text Available For test-sheet composition systems, it is important to adaptively compose test sheets with diverse conceptual scopes, discrimination and difficulty degrees to meet various assessment requirements during real learning situations. Computation time and item exposure rate also influence performance and item bank security. Therefore, this study proposes an Adaptive Test Sheet Generation (ATSG mechanism, where a Candidate Item Selection Strategy adaptively determines candidate test items and conceptual granularities according to desired conceptual scopes, and an Aggregate Objective Function applies Genetic Algorithm (GA to figure out the approximate solution of mixed integer programming problem for the test-sheet composition. Experimental results show that the ATSG mechanism can efficiently, precisely generate test sheets to meet the various assessment requirements than existing ones. Furthermore, according to experimental finding, Fractal Time Series approach can be applied to analyze the self-similarity characteristics of GA’s fitness scores for improving the quality of the test-sheet composition in the near future.

  16. Ethical and clinical practice considerations for genetic counselors related to direct-to-consumer marketing of genetic tests.

    Science.gov (United States)

    Wade, Christopher H; Wilfond, Benjamin S

    2006-11-15

    Several companies utilize direct-to-consumer (DTC) advertising for genetic tests and some, but not all, bypass clinician involvement by offering DTC purchase of the tests. This article examines how DTC marketing strategies may affect genetic counselors, using available cardiovascular disease susceptibility tests as an illustration. The interpretation of these tests is complex and includes consideration of clinical validity and utility, and the further complications of gene-environment interactions and pleiotropy. Although it is unclear to what extent genetic counselors will encounter clients who have been exposed to DTC marketing strategies, these strategies may influence genetic counseling interactions if they produce directed interest in specific tests and unrealistic expectations for the tests' capacity to predict disease. Often, a client's concern about risk for cardiovascular diseases is best addressed by established clinical tests and a family history assessment. Ethical dilemmas may arise for genetic counselors who consider whether to accept clients who request test interpretation or to order DTC-advertised tests that require a clinician's authorization. Genetic counselors' obligations to care for clients extend to interpreting DTC tests, although this obligation may be fulfilled by referral or consultation with specialists. Genetic counselors do not have an obligation to order DTC-advertised tests that have minimal clinical validity and utility at a client's request. This can be a justified restriction on autonomy based on consideration of risks to the client, the costs, and the implications for society. Published 2006 Wiley-Liss, Inc.

  17. Health-related direct-to-consumer genetic testing: a review of companies' policies with regard to genetic testing in minors.

    Science.gov (United States)

    Borry, Pascal; Howard, Heidi C; Sénécal, Karine; Avard, Denise

    2010-03-01

    More and more companies are advertising and selling genetic tests directly to consumers. Considering the ethical, legal, and psychological concerns surrounding genetic testing in minors, a study of companies' websites was performed in order to describe and analyze their policies with respect to this issue. Of the 29 companies analyzed, 13 did not provide any information about this matter, eight companies allowed genetic testing upon parental request, four companies stated that their website is not directed to children under 18 years, and four companies suggested that in order to be tested, applicants should have reached the age of legal majority. If private companies offer genetic tests which are also offered in a clinical setting, can they be expected to adhere to the existing clinical guidelines with regard to these tests? If so, a certain ambiguity exists. Many companies are emphasizing in their disclaimers that their services are not medical services and should not be used as a basis for making medical decisions. Nonetheless, it remains debatable whether genetic testing in minors would be appropriate in this context. In line with the Advisory Committee on Genetic Testing, the Human Genetics Commission addressed the problem of non-consensual testing and recommended not to supply genetic testing services directly to those under the age of 16 or to those not able to make a competent decision regarding testing.

  18. Preliminary investigation on determination of radionuclide distribution in field tracing test site

    International Nuclear Information System (INIS)

    Tanaka, Tadao; Mukai, Masayuki; Takebe, Shinichi; Guo Zede; Li Shushen; Kamiyama, Hideo.

    1993-12-01

    Field tracing tests for radionuclide migration have been conducted by using 3 H, 60 Co, 85 Sr and 134 Cs, in the natural unsaturated loess zone at field test site of China Institute for Radiation Protection. It is necessary to obtain confidable distribution data of the radionuclides in the test site, in order to evaluate exactly the migration behavior of the radionuclides in situ. An available method to determine the distribution was proposed on the basis of preliminary discussing results on sampling method of soils from the test site and analytical method of radioactivity in the soils. (author)

  19. Genetic Tests for Ability?: Talent Identification and the Value of an Open Future

    Science.gov (United States)

    Miah, Andy; Rich, Emma

    2006-01-01

    This paper explores the prospect of genetic tests for performance in physical activity and sports practices. It investigates the terminology associated with genetics, testing, selection and ability as a means towards a socio-ethical analysis of its value within sport, education and society. Our argument suggests that genetic tests need not even be…

  20. 76 FR 72424 - Submission for OMB Review; Comment Request Information Program on the Genetic Testing Registry

    Science.gov (United States)

    2011-11-23

    ... particular tests; and (3) facilitating genetic and genomic data-sharing for research and new scientific...; Comment Request Information Program on the Genetic Testing Registry AGENCY: National Institutes of Health... currently valid OMB control number. Proposed Collection: Title: The Genetic Testing Registry; Type of...

  1. Psychiatric genetic testing: Attitudes and intentions among future users and providers

    DEFF Research Database (Denmark)

    Laegsgaard, Mett Marri; Mors, Ole

    2008-01-01

    as a guide in this field, but the optimal utilization of genetic testing has also been recognized to depend on knowledge of the potential consumers' attitudes. To provide knowledge to inform the public debate on mental illness and genetics, and the future conducting of psychiatric genetic testing....... Psychiatric and somatic genetic testing attracted the same amounts of accept. General attitudes toward access to psychiatric genetic testing and information revealed substantial support for bioethical principles of autonomy and privacy. However, questions describing more specific situations revealed......Psychiatric genetic research may eventually render possible psychiatric genetic testing. Whereas all genetic knowledge has certain characteristics raising ethical, legal, and social issues, psychiatric genetic knowledge adds more controversial issues. Ethical principles have been proposed...

  2. Designing optimal degradation tests via multi-objective genetic algorithms

    International Nuclear Information System (INIS)

    Marseguerra, Marzio; Zio, Enrico; Cipollone, Maurizio

    2003-01-01

    The experimental determination of the failure time probability distribution of highly reliable components, such as those used in nuclear and aerospace applications, is intrinsically difficult due to the lack, or scarce significance, of failure data which can be collected during the relatively short test periods. A possibility to overcome this difficulty is to resort to the so-called degradation tests, in which measurements of components' degradation are used to infer the failure time distribution. To design such tests, parameters like the number of tests to be run, their frequency and duration, must be set so as to obtain an accurate estimate of the distribution statistics, under the existing limitations of budget. The optimisation problem which results is a non-linear one. In this work, we propose a method, based on multi-objective genetic algorithms for determining the values of the test parameters which optimise both the accuracy in the estimate of the failure time distribution percentiles and the testing costs. The method has been validated on a degradation model of literature

  3. Preliminary test results for post irradiation examination on the HTTR fuel

    International Nuclear Information System (INIS)

    Ueta, Shohei; Umeda, Masayuki; Sawa, Kazuhiro; Sozawa, Shizuo; Shimizu, Michio; Ishigaki, Yoshinobu; Obata, Hiroyuki

    2007-01-01

    The future post-irradiation program for the first-loading fuel of the HTTR is scheduled using the HTTR fuel handling facilities and the Hot Laboratory in the Japan Materials Testing Reactor (JMTR) to confirm its irradiation resistance and to obtain data on its irradiation characteristics in the core. This report describes the preliminary test results and the future plan for a post-irradiation examination for the HTTR fuel. In the preliminary test, fuel compacts made with the same SiC-coated fuel particle as the first loading fuel were used. In the preliminary test, dimension, weight, fuel failure fraction, and burnup were measured, and X-ray radiograph, SEM, and EPMA observations were carried out. Finally, it was confirmed that the first-loading fuel of the HTTR showed good quality under an irradiation condition. The future plan for the post-irradiation tests was described to confirm its irradiation performance and to obtain data on its irradiation characteristics in the HTTR core. (author)

  4. Pharmacogenetic testing through the direct-to-consumer genetic testing company 23andMe.

    Science.gov (United States)

    Lu, Mengfei; Lewis, Cathryn M; Traylor, Matthew

    2017-06-19

    Rapid advances in scientific research have led to an increase in public awareness of genetic testing and pharmacogenetics. Direct-to-consumer (DTC) genetic testing companies, such as 23andMe, allow consumers to access their genetic information directly through an online service without the involvement of healthcare professionals. Here, we evaluate the clinical relevance of pharmacogenetic tests reported by 23andMe in their UK tests. The research papers listed under each 23andMe report were evaluated, extracting information on effect size, sample size and ethnicity. A wider literature search was performed to provide a fuller assessment of the pharmacogenetic test and variants were matched to FDA recommendations. Additional evidence from CPIC guidelines, PharmGKB, and Dutch Pharmacogenetics Working Group was reviewed to determine current clinical practice. The value of the tests across ethnic groups was determined, including information on linkage disequilibrium between the tested SNP and causal pharmacogenetic variant, where relevant. 23andMe offers 12 pharmacogenetic tests to their UK customers, some of which are in standard clinical practice, and others which are less widely applied. The clinical validity and clinical utility varies extensively between tests. The variants tested are likely to have different degrees of sensitivity due to different risk allele frequencies and linkage disequilibrium patterns across populations. The clinical relevance depends on the ethnicity of the individual and variability of pharmacogenetic markers. Further research is required to determine causal variants and provide more complete assessment of drug response and side effects. 23andMe reports provide some useful pharmacogenetics information, mirroring clinical tests that are in standard use. Other tests are unspecific, providing limited guidance and may not be useful for patients without professional interpretation. Nevertheless, DTC companies like 23andMe act as a powerful

  5. The Past, Present, and Future of Preimplantation Genetic Testing.

    Science.gov (United States)

    Imudia, Anthony N; Plosker, Shayne

    2016-06-01

    Preimplantation genetic testing (PGT) of oocytes and embryos is the earliest form of prenatal testing. PGT requires in vitro fertilization for embryo creation. In the past 25 years, the use of PGT has increased dramatically. The indications of PGT include identification of embryos harboring single-gene disorders, chromosomal structural abnormalities, chromosomal numeric abnormalities, and mitochondrial disorders; gender selection; and identifying unaffected, HLA-matched embryos to permit the creation of a savior sibling. PGT is not without risks, limitations, or ethical controversies. This review discusses the techniques and clinical applications of different forms of PGT and the debate surrounding its associated uncertainty and expanded use. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. Novel technologies emerging for preimplantation genetic diagnosis and preimplantation genetic testing for aneuploidy.

    Science.gov (United States)

    Sermon, Karen

    2017-01-01

    Preimplantation genetic diagnosis (PGD) was introduced as an alternative to prenatal diagnosis: embryos cultured in vitro were analysed for a monogenic disease and only disease-free embryos were transferred to the mother, to avoid the termination of pregnancy with an affected foetus. It soon transpired that human embryos show a great deal of acquired chromosomal abnormalities, thought to explain the low success rate of IVF - hence preimplantation genetic testing for aneuploidy (PGT-A) was developed to select euploid embryos for transfer. Areas covered: PGD has followed the tremendous evolution in genetic analysis, with only a slight delay due to adaptations for diagnosis on small samples. Currently, next generation sequencing combining chromosome with single-base pair analysis is on the verge of becoming the golden standard in PGD and PGT-A. Papers highlighting the different steps in the evolution of PGD/PGT-A were selected. Expert commentary: Different methodologies used in PGD/PGT-A with their pros and cons are discussed.

  7. Preimplantation genetic haplotyping a new application for diagnosis of translocation carrier's embryos- preliminary observations of two robertsonian translocation carrier families.

    Science.gov (United States)

    Shamash, Jana; Rienstein, Shlomit; Wolf-Reznik, Haike; Pras, Elon; Dekel, Michal; Litmanovitch, Talia; Brengauz, Masha; Goldman, Boleslav; Yonath, Hagith; Dor, Jehoshua; Levron, Jacob; Aviram-Goldring, Ayala

    2011-01-01

    Preimplantation genetic diagnosis using fluorescence in-situ hybridization (PGD-FISH) is currently the most common reproductive solution for translocation carriers. However, this technique usually does not differentiate between embryos carrying the balanced form of the translocation and those carrying the homologous normal chromosomes. We developed a new application of preimplantation genetic haplotyping (PGH) that can identify and distinguish between all forms of the translocation status in cleavage stage embryos prior to implantation. Polymorphic markers were used to identify and differentiate between the alleles that carry the translocation and those that are the normal homologous chromosomes. Embryos from two families of robertsonian translocation carriers were successfully analyzed using polymorphic markers haplotyping. Our preliminary results indicate that the PGH is capable of distinguishing between normal, balanced and unbalanced translocation carrier embryos. This method will improve PGD and will enable translocation carriers to avoid transmission of the translocation and the associated medical complications to offspring.

  8. Preliminary genetic imaging study of the association between estrogen receptor-α gene polymorphisms and harsh human maternal parenting.

    Science.gov (United States)

    Lahey, Benjamin B; Michalska, Kalina J; Liu, Chunyu; Chen, Qi; Hipwell, Alison E; Chronis-Tuscano, Andrea; Waldman, Irwin D; Decety, Jean

    2012-09-06

    A failure of neural changes initiated by the estrogen surge in late pregnancy to reverse the valence of infant stimuli from aversive to rewarding is associated with dysfunctional maternal behavior in nonhuman mammals. Estrogen receptor-α plays the crucial role in mediating these neural effects of estrogen priming. This preliminary study examines associations between estrogen receptor-α gene polymorphisms and human maternal behavior. Two polymorphisms were associated with human negative maternal parenting. Furthermore, hemodynamic responses in functional magnetic resonance imaging to child stimuli in neural regions associated with social cognition fully mediated the association between genetic variation and negative parenting. This suggests testable hypotheses regarding a biological pathway between genetic variants and dysfunctional human maternal parenting. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  9. ACOG Committee Opinion No. 409: Direct-to-consumer marketing of genetic testing.

    Science.gov (United States)

    2008-06-01

    Marketing of genetic testing, although similar to direct-to-consumer advertising of prescription drugs, raises additional concerns and considerations. These include issues of limited knowledge among patients and health care providers of available genetic tests, difficulty in interpretation of genetic testing results, lack of federal oversight of companies offering genetic testing, and issues of privacy and confidentiality. Until all of these considerations are addressed, direct or home genetic testing should be discouraged because of the potential harm of a misinterpreted or inaccurate result.

  10. Attitudes toward genetic testing among the general population and relatives of patients with a severe genetic disease

    DEFF Research Database (Denmark)

    Hietala, M; Hakonen, A; Aro, A R

    1995-01-01

    evaluated attitudes toward gene tests in general and also respondents' preparedness to undergo gene tests for predictive testing, carrier detection, prenatal diagnosis, and selective abortion, in theoretical situations. The results of the study indicate that both the Finnish population in general and family...... members of AGU patients have a favorable attitude toward genetic testing. However, a commonly expressed reason against testing was that test results might lead to discrimination in employment or insurance policies. Based on the responses, we predict that future genetic testing programs will most probably...

  11. Preliminary engineering specifications for a test demonstration multilayer protective barrier cover system

    International Nuclear Information System (INIS)

    Phillips, S.J.; Gilbert, T.W.; Adams, M.R.

    1985-03-01

    This report presents preliminary engineering specifications for a test protective barrier cover system and support radiohydrology facility to be constructed at the Hanford Protective Barrier Test Facility (PBTF). Construction of this test barrier and related radiohydrology facility is part of a continuing effort to provide construction experience and performance evaluation of alternative barrier designs used for long-term isolation of disposed radioactive waste materials. Design specifications given in this report are tentative, based on interim engineering and computer simulation design efforts. Final definitive design specifications and engineering prints will be produced in FY 1986. 6 refs., 10 figs., 1 tab

  12. Preliminary environmental analysis of a geopressured-geothermal test well in Brazoria County, Texas

    Energy Technology Data Exchange (ETDEWEB)

    White, W.A.; McGraw, M.; Gustavson, T.C.; Meriwether, J.

    1977-11-16

    Preliminary environmental data, including current land use, substrate lithology, soils, natural hazards, water resources, biological assemblages, meteorological data, and regulatory considerations have been collected and analyzed for approximately 150 km/sup 2/ of land near Chocolate Bayou, Brazoria County, Texas, in which a geopressured-geothermal test well is to be drilled in the fall of 1977. The study was designed to establish an environmental data base and to determine, within spatial constraints set by subsurface reservoir conditions, environmentally suitable sites for the proposed well. Preliminary analyses of data revealed the eed for focusing on the following areas: potential for subsidence and fault activation, susceptibility of test well and support facilities to fresh- and salt-water flooding, possible effects of produced saline waters on biological assemblages and groundwaer resources, distribution of expansive soils, and effect of drilling and associated support activities on known archeological-cultural resources.

  13. Preliminary results for HIP bonding Ta to W targets for the materials test station

    Energy Technology Data Exchange (ETDEWEB)

    Dombrowski, David E [Los Alamos National Laboratory; Maloy, Stuart A [Los Alamos National Laboratory

    2009-01-01

    Tungsten targets for the Materials Test Station (MTS) were clad with thin tantalum cover plates and a tantalum frame using hot isostatic pressing (HIP). A preliminary HIP parameter study showed good bonding and intimate mechanical contact for Ta cover plate thicknesses of 0.25 mm (0.010 inch) and 0.38 mm (0.015 inch). HIP temperatures of full HIP runs were 1500 C (2732 F). HIP pressure was 203 MPa (30 ksi).

  14. The genetic and economic effect of preliminary culling in the seedling orchard

    Science.gov (United States)

    Don E. Riemenschneider

    1977-01-01

    The genetic and economic effects of two stages of truncation selection in a white spruce seedling orchard were investigated by computer simulation. Genetic effects were computed by assuming a bivariate distribution of juvenile and mature traits and volume was used as the selection criterion. Seed production was assumed to rise in a linear fashion to maturity and then...

  15. Genetic Testing in Intellectual Disability Psychiatry: Opinions and Practices of UK Child and Intellectual Disability Psychiatrists

    Science.gov (United States)

    Wolfe, Kate; Stueber, Kerstin; McQuillin, Andrew; Jichi, Fatima; Patch, Christine; Flinter, Frances; Strydom, André; Bass, Nick

    2018-01-01

    Background: An increasing number of genetic causes of intellectual disabilities (ID) are identifiable by clinical genetic testing, offering the prospect of bespoke patient management. However, little is known about the practices of psychiatrists and their views on genetic testing. Method: We undertook an online survey of 215 psychiatrists, who…

  16. Role of genetic testing for inherited prostate cancer risk: Philadelphia prostate cancer consensus conference 2017

    NARCIS (Netherlands)

    V.N. Giri (Veda); Knudsen, K.E. (Karen E.); Kelly, W.K. (William K.); Abida, W. (Wassim); G.L. Andriole (Gerald); C.H. Bangma (Chris); Bekelman, J.E. (Justin E.); Benson, M.C. (Mitchell C.); A. Blanco (Amie); Burnett, A. (Arthur); Catalona, W.J. (William J.); Cooney, K.A. (Kathleen A.); M.R. Cooperberg (Matthew); D. Crawford (David); Den, R.B. (Robert B.); Dicker, A.P. (Adam P.); S. Eggener (Scott); N.E. Fleshner (Neil); Freedman, M.L. (Matthew L.); F. Hamdy (Freddie); Hoffman-Censits, J. (Jean); Hurwitz, M.D. (Mark D.); Hyatt, C. (Colette); Isaacs, W.B. (William B.); Kane, C.J. (Christopher J.); Kantoff, P. (Philip); R.J. Karnes (Jeffrey); Karsh, L.I. (Lawrence I.); Klein, E.A. (Eric A.); Lin, D.W. (Daniel W.); Loughlin, K.R. (Kevin R.); Lu-Yao, G. (Grace); Malkowicz, S.B. (S. Bruce); Mann, M.J. (Mark J.); Mark, J.R. (James R.); McCue, P.A. (Peter A.); Miner, M.M. (Martin M.); Morgan, T. (Todd); Moul, J.W. (Judd W.); Myers, R.E. (Ronald E.); Nielsen, S.M. (Sarah M.); Obeid, E. (Elias); Pavlovich, C.P. (Christian P.); Peiper, S.C. (Stephen C.); D.F. Penson (David F.); D.P. Petrylak (Daniel P); Pettaway, C.A. (Curtis A.); R. Pilarski (Robert); P. Pinto (Peter); Poage, W. (Wendy); Raj, G.V. (Ganesh V.); R. Rebbeck (Timothy); M. Robson (Mark); Rosenberg, M.T. (Matt T.); Sandler, H. (Howard); A.O. Sartor (Oliver); Schaeffer, E. (Edward); Schwartz, G.F. (Gordon F.); Shahin, M.S. (Mark S.); N.D. Shore (Neal); Shuch, B. (Brian); Soule, H.R. (Howard R.); S.A. Tomlins (Scott A); Trabulsi, E.J. (Edouard J.); Uzzo, R. (Robert); Griend, D.J.V. (Donald J. Vander); P.C. Walsh (Patrick); Weil, C.J. (Carol J.); Wender, R. (Richard); Gomella, L.G. (Leonard G.)

    2018-01-01

    textabstractPurpose: Guidelines are limited for genetic testing for prostate cancer (PCA). The goal of this conference was to develop an expert consensus-driven working framework for comprehensive genetic evaluation of inherited PCA in the multigene testing era addressing genetic counseling,

  17. Pathways and barriers to genetic testing and screening: Molecular genetics meets the high-risk family. Final report

    Energy Technology Data Exchange (ETDEWEB)

    Duster, T.

    1998-11-01

    The proliferation of genetic screening and testing is requiring increasing numbers of Americans to integrate genetic knowledge and interventions into their family life and personal experience. This study examines the social processes that occur as families at risk for two of the most common autosomal recessive diseases, sickle cell disease (SC) and cystic fibrosis (CF), encounter genetic testing. Each of these diseases is found primarily in a different ethnic/racial group (CF in Americans of North European descent and SC in Americans of West African descent). This has permitted them to have a certain additional lens on the role of culture in integrating genetic testing into family life and reproductive planning. A third type of genetic disorder, the thalassemias was added to the sample in order to extent the comparative frame and to include other ethnic and racial groups.

  18. Genetic Counseling and Evaluation for BRCA1/2 Testing

    Science.gov (United States)

    ... Options Talking to Family Family Stories Diseases Genetic Counseling for Hereditary Breast and Ovarian Cancer Recommend on ... mutation, your doctor may refer you for genetic counseling. Understanding and dealing with a strong family health ...

  19. [A survey of willingness about genetic counseling and tests in patients of epithelial ovarian cancer].

    Science.gov (United States)

    Li, L; Qiu, L; Wu, M

    2017-11-21

    Objective: To analyze patients' tendency towards genetics counseling and tests based on a prospective cohort study on hereditary ovarian cancer. Methods: From February 2017 to June 2017, among 220 cases of epithelial ovarian cancer in Peking Union Medical College Hospital, we collected epidemiological, pathological and tendency towards genetics counseling and tests via medical records and questionnaire.All patients would get education about hereditary ovarian cancer by pamphlets and WeChat.If they would receive further counseling, a face to face interview and tests will be given. Results: Among all 220 patients, 10 (4.5%) denied further counseling.For 210 patients receiving genetic counseling, 170 (81%) accepted genetic tests.In multivariate analysis, risk factors relevant to acceptance of genetic tests included: being charged by physicians of gynecologic oncology for diagnosis and treatment, receiving counseling in genetic counseling clinics, and having family history of breast cancer.For patients denying genetic tests, there were many subjective reasons, among which, "still not understanding genetic tests" (25%) and "unable bear following expensive targeting medicine" . Conclusions: High proportion patients of epithelial ovarian cancer would accept genetic counseling and tests.Genetic counseling clinics for gynecologic oncology would further improve genetic tests for patients.

  20. Tests for genetic interactions in type 1 diabetes

    DEFF Research Database (Denmark)

    Morahan, Grant; Mehta, Munish; James, Ian

    2011-01-01

    Interactions between genetic and environmental factors lead to immune dysregulation causing type 1 diabetes and other autoimmune disorders. Recently, many common genetic variants have been associated with type 1 diabetes risk, but each has modest individual effects. Familial clustering of type 1...... diabetes has not been explained fully and could arise from many factors, including undetected genetic variation and gene interactions....

  1. Hydraulically driven control rod concept for integral reactors: fluid dynamic simulation and preliminary test

    International Nuclear Information System (INIS)

    Ricotti, M.E.; Cammi, A.; Lombardi, C.; Passoni, M.; Rizzo, C.; Carelli, M.; Colombo, E.

    2003-01-01

    The paper deals with the preliminary study of the Hydraulically Driven Control Rod concept, tailored for PWR control rods (spider type) with hydraulic drive mechanism completely immersed in the primary water. A specific solution suitable for advanced versions of the IRIS integral reactor is under investigation. The configuration of the Hydraulic Control Rod device, made up by an external movable piston and an internal fixed cylinder, is described. After a brief description of the whole control system, particular attention is devoted to the Control Rod characterization via Computational Fluid Dynamics (CFD) analysis. The investigation of the system behavior, including dynamic equilibrium and stability properties, has been carried out. Finally, preliminary tests were performed in a low pressure, low temperature, reduced length experimental facility. The results are compared with the dynamic control model and CFD simulation model, showing good agreement between simulations and experimental data. During these preliminary tests, the control system performs correctly, allowing stable dynamic equilibrium positions for the Control Rod and stable behavior during withdrawal and insertion steps. (author)

  2. Preliminary report on fire protection research program (July 6, 1977 test)

    International Nuclear Information System (INIS)

    Klamerus, L.J.

    1977-10-01

    This preliminary report describes a fire test performed at Sandia Laboratories on an array of cable trays filled with fire retardant (IEEE 383 qualified) electrical cable. The cable trays were arranged in an open-space horizontal configuration with the separation distances of Regulatory Guide 1.75 between those trays representing redundant safety divisions. Propane burners were used to produce a fully developed cable fire in one tray which then was allowed to interact with other trays. From this test it appears that it is possible for a fire to propagate across the vertical separation distance between safety divisions, if a fully developed cable fire is the initiating event

  3. Static Aeroelastic Deformation Effects in Preliminary Wind-tunnel Tests of Silent Supersonic Technology Demonstrator

    OpenAIRE

    Makino, Yoshikazu; Ohira, Keisuke; Makimoto, Takuya; Mitomo, Toshiteru; 牧野, 好和; 大平, 啓介; 牧本, 卓也; 三友, 俊輝

    2011-01-01

    Effects of static aeroelastic deformation of a wind-tunnel test model on the aerodynamic characteristics are discussed in wind-tunnel tests in the preliminary design phase of the silent supersonic technology demonstrator (S3TD). The static aeroelastic deformation of the main wing is estimated for JAXA 2m x 2m transonic wind-tunnel and 1m x 1m supersonic wind-tunnel by a finite element method (FEM) structural analysis in which its structural model is tuned with the model deformation calibratio...

  4. Preliminary testing of a planar converter with uranium oxide pellets in the emitter

    International Nuclear Information System (INIS)

    Miskolczy, G.; Lieb, D.P.; Hatch, G.L.

    1992-01-01

    Nuclear reactor thermionic space power systems incorporating thermionic fuel element generally use refractory metal emitters, which contain the nuclear fuel. The purpose of the current work is to determine the effect, if any, of the diffusion of uranium oxide fuel through chemically vapor deposited (CVD) tungsten on converter performance. This paper describes the preliminary testing of the converter to assess the converter performance before any significant diffusion takes place. In testing, the emitter temperature was 1800 K and the collector temperature was varied from 1000 K to 1070 K. Experiments also examined pressure versus loading characteristics of the graphite

  5. [Survey on the attitude toward genetic testing of neurologists certified by the Japanese Society of Neurology].

    Science.gov (United States)

    Yoshida, Kunihiro; Ohata, Takako; Muto, Kaori; Tsuchiya, Atsushi; Sawada, Jinichi; Hazama, Takanori; Ikeda, Shu-Ichi; Toda, Tatsushi

    2013-01-01

    To clarify the attitude toward genetic testing for neuromuscular diseases, a questionnaire was sent to 4,762 neurologists certified by the Japanese Society of Neurology. By December 21, 2011, 1,493 questionnaires (31.4%) were returned. Of these, 1,233 (82.6%) had experienced genetic testing, but only 396 (26.5%) had referred to the guideline for genetic testing of the Japanese Society of Neurology (2009). The numbers of respondents who were positive, or more positive than negative for genetic testing for myotonic dystrophy type 1 (DM1), Huntington's disease (HD), and familial amyloid polyneuropathy (FAP) were 753 (50.4%), 915 (61.3%), and 980 (65.6%), respectively. The predominant reason for a positive attitude toward genetic testing was to confirm or exclude the diagnosis. Conversely, the predominant reason for a negative attitude toward genetic testing differed between the diseases. For DM1, it was to confirm the diagnosis without genetic testing. For HD, it was that genetic testing would not result in effective prevention or therapy. In FAP, it was that post-testing psychosocial support for the patient and their family was difficult. Common to DM1, HD, and FAP, a significant number of respondents (approximately 60%) felt it difficult to explain the negative aspects that might occur after the disclosure of test results. Concerning predictive or prenatal genetic testing, most respondents referred at-risk individuals to specialized genetic counseling clinics. In general, neurologists are likely to conduct genetic testing properly in consideration not only of the characteristics of the diseases but also of the circumstances of each patient and his or her family. To support neurologists who are involved in genetic testing, the guidelines should be more easily accessible. Many respondents wanted information on the institutions that provide genetic counseling and testing; however, financial support to such institutions is indispensable for fulfilling this requirement.

  6. Preliminary results on observation of genetic relations among the exotic cosmic-ray phenomena

    International Nuclear Information System (INIS)

    Hasegawa, S.

    1984-01-01

    In order to see the genetic hypothesis on the exotic interactions, a systematic study is made for the Chiron-type families on their secondary interactions in the emulsion chamber, and the results are presented. (L.C.) [pt

  7. Characteristics, finite element analysis, test description, and preliminary test results of the STM4-120 kinematic Stirling engine

    Science.gov (United States)

    Linker, K. L.; Rawlinson, K. S.; Smith, G.

    1991-10-01

    The Department of Energy's Solar Thermal Program has, as one of its program elements, the development and evaluation of conversion device technologies applicable to dish-electric systems. The primary research and development combines a conversion device (heat engine), solar receiver, and generator mounted at the focus of a parabolic dish concentrator. The Stirling-cycle heat engine was identified as the conversion device for dish-electric with the most potential for meeting the program's goals for efficiency, reliability, and installed cost. To advance the technology toward commercialization, Sandia National Laboratories has acquired a Stirling Thermal Motors, Inc. kinematic Stirling engine, STM4-120, for evaluation. The engine is being bench-tested at Sandia's Engine Test Facility and will be combined later with a solar receiver for on-sun evaluation. This report presents the engine characteristics, finite element analyses of critical engine components, test system layout, instrumentation, and preliminary performance results from the bench test.

  8. Hopefulness predicts resilience after hereditary colorectal cancer genetic testing: a prospective outcome trajectories study

    OpenAIRE

    Chu Annie TW; Bonanno George A; Ho Judy WC; Ho Samuel MY; Chan Emily MS

    2010-01-01

    Abstract Background - Genetic testing for hereditary colorectal cancer (HCRC) had significant psychological consequences for test recipients. This prospective longitudinal study investigated the factors that predict psychological resilience in adults undergoing genetic testing for HCRC. Methods - A longitudinal study was carried out from April 2003 to August 2006 on Hong Kong Chinese HCRC family members who were recruited and offered genetic testing by the Hereditary Gastrointestinal Cancer R...

  9. Direct-to-consumer genetic testing in Slovenia: availability, ethical dilemmas and legislation.

    Science.gov (United States)

    Vrecar, Irena; Peterlin, Borut; Teran, Natasa; Lovrecic, Luca

    2015-01-01

    Over the last few years, many private companies are advertising direct-to-consumer genetic testing (DTC GT), mostly with no or only minor clinical utility and validity of tests and without genetic counselling. International professional community does not approve provision of DTC GT and situation in some EU countries has been analysed already. The aim of our study was to analyse current situation in the field of DTC GT in Slovenia and related legal and ethical issues. Information was retrieved through internet search, performed independently by two authors, structured according to individual private company and the types of offered genetic testing. Five private companies and three Health Insurance Companies offer DTC GT and it is provided without genetic counselling. Available tests include testing for breast cancer, tests with other health-related information (complex diseases, drug responses) and other tests (nutrigenetic, ancestry, paternity). National legislation is currently being developed and Council of Experts in Medical Genetics has issued an opinion about Genetic Testing and Commercialization of Genetic Tests in Slovenia. Despite the fact that Slovenia has signed the Additional protocol to the convention on human rights and biomedicine, concerning genetic testing for health purposes, DTC GT in Slovenia is present and against all international recommendations. There is lack of or no medical supervision, clinical validity and utility of tests and inappropriate genetic testing of minors is available. There is urgent need for regulation of ethical, legal, and social aspects. National legislation on DTC GT is being prepared.

  10. Genetic horoscopes: is it all in the genes? Points for regulatory control of direct-to-consumer genetic testing

    NARCIS (Netherlands)

    Patch, C.; Sequeiros, J.; Cornel, M.C.

    2009-01-01

    The development of tests for genetic susceptibility to common complex diseases has raised concerns. These concerns relate to evaluation of the scientific and clinical validity and utility of the tests, quality assurance of laboratories and testing services, advice and protection for the consumer and

  11. Jet-Surface Interaction: High Aspect Ratio Nozzle Test, Nozzle Design and Preliminary Data

    Science.gov (United States)

    Brown, Clifford; Dippold, Vance

    2015-01-01

    The Jet-Surface Interaction High Aspect Ratio (JSI-HAR) nozzle test is part of an ongoing effort to measure and predict the noise created when an aircraft engine exhausts close to an airframe surface. The JSI-HAR test is focused on parameters derived from the Turbo-electric Distributed Propulsion (TeDP) concept aircraft which include a high-aspect ratio mailslot exhaust nozzle, internal septa, and an aft deck. The size and mass flow rate limits of the test rig also limited the test nozzle to a 16:1 aspect ratio, half the approximately 32:1 on the TeDP concept. Also, unlike the aircraft, the test nozzle must transition from a single round duct on the High Flow Jet Exit Rig, located in the AeroAcoustic Propulsion Laboratory at the NASA Glenn Research Center, to the rectangular shape at the nozzle exit. A parametric nozzle design method was developed to design three low noise round-to-rectangular transitions, with 8:1, 12:1, and 16: aspect ratios, that minimizes flow separations and shocks while providing a flat flow profile at the nozzle exit. These designs validated using the WIND-US CFD code. A preliminary analysis of the test data shows that the actual flow profile is close to that predicted and that the noise results appear consistent with data from previous, smaller scale, tests. The JSI-HAR test is ongoing through October 2015. The results shown in the presentation are intended to provide an overview of the test and a first look at the preliminary results.

  12. Public health genomics and genetic test evaluation: the challenge of conducting behavioural research on the utility of lifestyle-genetic tests.

    Science.gov (United States)

    Sanderson, Saskia C; Wardle, Jane; Humphries, Steve E

    2008-01-01

    Human genetics research is increasingly concerned with multifactorial conditions such as diabetes and heart disease, which are influenced not only by genetic but also lifestyle factors such as diet and smoking. Although the results of 'lifestyle-genetic' tests using this information could conceivably motivate lifestyle changes in the future, companies are already selling such tests and related lifestyle advice commercially. Some academics and lobby groups have condemned the companies for selling these tests in advance of scientific support. Others are concerned that the tests may not motivate lifestyle improvements, instead causing distress in people receiving adverse test results and complacency in those receiving reassuring results. There is currently no regulatory oversight of genetic test utility, despite consensus in the Public Health Genomics community that clinical utility (including psychological and behavioural impact) of all emerging genetic tests should be evaluated before being introduced for individual use. Clearly, empirical data in this area is much needed, to inform understanding of the potential utility of these tests, and of whether stricter regulation of commercial exploitation is needed. In this article, we review the current situation regarding lifestyle-genetic tests, and discuss the challenges inherent in conducting this kind of behavioural research in the genomics era. Copyright 2008 S. Karger AG, Basel.

  13. Preliminary design for hot dirty-gas control-valve test facility. Final report

    Energy Technology Data Exchange (ETDEWEB)

    1980-01-01

    This report presents the results of a preliminary design and cost estimating effort for a facility for the testing of control valves in Hot Dirty Gas (HDGCV) service. This design was performed by Mittelhauser Corporation for the United States Department of Energy's Morgantown Energy Technology Center (METC). The objective of this effort was to provide METC with a feasible preliminary design for a test facility which could be used to evaluate valve designs under simulated service conditions and provide a technology data base for DOE and industry. In addition to the actual preliminary design of the test facility, final design/construction/operating schedules and a facility cost estimate were prepared to provide METC sufficient information with which to evaluate this design. The bases, assumptions, and limitations of this study effort are given. The tasks carried out were as follows: METC Facility Review, Environmental Control Study, Gas Generation Study, Metallurgy Review, Safety Review, Facility Process Design, Facility Conceptual Layout, Instrumentation Design, Cost Estimates, and Schedules. The report provides information regarding the methods of approach used in the various tasks involved in the completion of this study. Section 5.0 of this report presents the results of the study effort. The results obtained from the above-defined tasks are described briefly. The turnkey cost of the test facility is estimated to be $9,774,700 in fourth quarter 1979 dollars, and the annual operating cost is estimated to be $960,000 plus utilities costs which are not included because unit costs per utility were not available from METC.

  14. Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON.

    Science.gov (United States)

    Galvez-Ruiz, Alberto; Galindo-Ferreiro, Alicia; Schatz, Patrik

    2018-04-01

    In this study, the authors present a sample of 71 patients with hereditary optic neuropathy and negative genetic test results for OPA1/OPA3/LHON. All of these patients later underwent genetic testing to rule out WFS. As a result, 53 patients (74.7%) were negative and 18 patients (25.3%) were positive for some type of mutation or variation in the WFS gene. The authors believe that this study is interesting because it shows that a sizeable percentage (25.3%) of patients with hereditary optic 25 neuropathy and negative genetic test results for OPA1/OPA3/LHON had WFS mutations or variants.

  15. An investigation of the statistical power of neutrality tests based on comparative and population genetic data

    DEFF Research Database (Denmark)

    Zhai, Weiwei; Nielsen, Rasmus; Slatkin, Montgomery

    2009-01-01

    In this report, we investigate the statistical power of several tests of selective neutrality based on patterns of genetic diversity within and between species. The goal is to compare tests based solely on population genetic data with tests using comparative data or a combination of comparative...... and population genetic data. We show that in the presence of repeated selective sweeps on relatively neutral background, tests based on the d(N)/d(S) ratios in comparative data almost always have more power to detect selection than tests based on population genetic data, even if the overall level of divergence...... selection. The Hudson-Kreitman-Aguadé test is the most powerful test for detecting positive selection among the population genetic tests investigated, whereas McDonald-Kreitman test typically has more power to detect negative selection. We discuss our findings in the light of the discordant results obtained...

  16. A Preliminary Analysis of Reactor Performance Test (LOEP) for a Research Reactor

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Hyeonil; Park, Su-Ki [Korea Atomic Energy Research Institute, Daejeon (Korea, Republic of)

    2015-10-15

    The final phase of commissioning is reactor performance test, which is to prove the integrated performance and safety of the research reactor at full power with fuel loaded such as neutron power calibration, Control Absorber Rod/Second Shutdown Rod drop time, InC function test, Criticality, Rod worth, Core heat removal with natural mechanism, and so forth. The last test will be safety-related one to assure the result of the safety analysis of the research reactor is marginal enough to be sure about the nuclear safety by showing the reactor satisfies the acceptance criteria of the safety functions such as for reactivity control, maintenance of auxiliaries, reactor pool water inventory control, core heat removal, and confinement isolation. After all, the fuel integrity will be ensured by verifying there is no meaningful change in the radiation levels. To confirm the performance of safety equipment, loss of normal electric power (LOEP), possibly categorized as Anticipated Operational Occurrence (AOO), is selected as a key experiment to figure out how safe the research reactor is before turning over the research reactor to the owner. This paper presents a preliminary analysis of the reactor performance test (LOEP) for a research reactor. The results showed how different the transient between conservative estimate and best estimate will look. Preliminary analyses have shown all probable thermal-hydraulic transient behavior of importance as to opening of flap valve, minimum critical heat flux ratio, the change of flow direction, and important values of thermal-hydraulic parameters.

  17. Preliminary Test of Friction disk type turbine for S-CO{sub 2} cycle application

    Energy Technology Data Exchange (ETDEWEB)

    Baik, Seungjoon; Kim, Hyeon Tae; Lee, Jeong Ik [KAIST, Daejeon (Korea, Republic of)

    2016-05-15

    Due to the relatively mild sodium-CO{sub 2} interaction, the S-CO{sub 2} Brayton cycle can reduce the accident consequence compared to the steam Rankine cycle. Also the S-CO{sub 2} power conversion cycle can achieve high efficiency for SFR core thermal condition. Moreover, the S-CO{sub 2} power cycle can reduce the total cycle footprint due to high density of the working fluid. However, the high pressure operating condition and low viscosity of the fluid cause difficulties in designing appropriate seals and multi-stage turbo machineries. To solve the problem for designing turbo machineries in a creative way, KAIST research team tested a friction disk type turbine concept for the S-CO{sub 2} cycle application. In this paper, the investigation of the Tesla turbine and preliminary test results with compressed air are covered. The KAIST research team investigated a friction disk type turbine, named as Tesla turbine, for the S-CO{sub 2} power cycle applications. Due to the robust design of the fiction disk type, the Tesla turbine technology can be utilized not only for S-CO{sub 2} turbo machinery but also for the multi-phase or sludge flow turbo machinery. The preliminary test of lab-scale Tesla turbine with compressed air was conducted. The high pressure vessel was manufactured for the S-CO{sub 2} operating condition. The test will be concentrated on the turbine efficiency measurement under various conditions and development of the design methodology.

  18. Direct to consumer genetic testing and the libertarian right to test.

    Science.gov (United States)

    Bonython, Wendy Elizabeth; Arnold, Bruce Baer

    2017-08-20

    Loi recently proposed a libertarian right to direct to consumer genetic testing (DTCGT)- independent of autonomy or utility-reflecting Cohen's work on self-ownership and Hohfeld's model of jural relations. Cohen's model of libertarianism dealt principally with self-ownership of the physical body. Although Loi adequately accounts for the physical properties of DNA, DNA is also an informational substrate, highly conserved within families. Information about the genome of relatives of the person undergoing testing may be extrapolated without requiring direct engagement with their personal physical copy of the genome, triggering rights and interests of relatives that may differ from the rights and interests of others, that is, individual consumers, testing providers and regulators. Loi argued that regulatory interference with exercise of the right required justification, whereas prima facie exercise of the right did not. Justification of regulatory interference could include 'conflict with other people's rights', 'aggressive' use of the genome and 'harming others'. Harms potentially experienced by relatives as a result of the individual's exercise of a right to test include breach of genetic privacy, violation of their right to determine when, and if, they undertake genetic testing and discrimination. Such harms may justify regulatory intervention, in the event they are recognised; motives driving 'aggressive' use of the genome may also be relevant. Each of the above criteria requires clarification, as potential redundancies and tensions exist between them, with different implications affecting different groups of rights holders. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  19. Technology assessment and resource allocation for predictive genetic testing: A study of the perspectives of Canadian genetic health care providers

    Directory of Open Access Journals (Sweden)

    Einsiedel Edna

    2009-06-01

    Full Text Available Abstract Background With a growing number of genetic tests becoming available to the health and consumer markets, genetic health care providers in Canada are faced with the challenge of developing robust decision rules or guidelines to allocate a finite number of public resources. The objective of this study was to gain Canadian genetic health providers' perspectives on factors and criteria that influence and shape resource allocation decisions for publically funded predictive genetic testing in Canada. Methods The authors conducted semi-structured interviews with 16 senior lab directors and clinicians at publically funded Canadian predictive genetic testing facilities. Participants were drawn from British Columbia, Alberta, Manitoba, Ontario, Quebec and Nova Scotia. Given the community sampled was identified as being relatively small and challenging to access, purposive sampling coupled with snowball sampling methodologies were utilized. Results Surveyed lab directors and clinicians indicated that predictive genetic tests were funded provincially by one of two predominant funding models, but they themselves played a significant role in how these funds were allocated for specific tests and services. They also rated and identified several factors that influenced allocation decisions and patients' decisions regarding testing. Lastly, participants provided recommendations regarding changes to existing allocation models and showed support for a national evaluation process for predictive testing. Conclusion Our findings suggest that largely local and relatively ad hoc decision making processes are being made in relation to resource allocations for predictive genetic tests and that a more coordinated and, potentially, national approach to allocation decisions in this context may be appropriate.

  20. The impact of predictive genetic testing for hereditary nonpolyposis colorectal cancer: three years after testing.

    Science.gov (United States)

    Collins, Veronica R; Meiser, Bettina; Ukoumunne, Obioha C; Gaff, Clara; St John, D James; Halliday, Jane L

    2007-05-01

    To fully assess predictive genetic testing programs, it is important to assess outcomes over periods of time longer than the 1-year follow-up reported in the literature. We conducted a 3-year study of individuals who received predictive genetic test results for previously identified familial mutations in Australian Familial Cancer Clinics. Questionnaires were sent before attendance at the familial cancer clinic and 2 weeks, 4 months, 1 year, and 3 years after receiving test results. Psychological measures were included each time, and preventive behaviors were assessed at baseline and 1 and 3 years. Psychological measures were adjusted for age, gender, and baseline score. The study included 19 carriers and 54 non-carriers. We previously reported an increase in mean cancer-specific distress in carriers at 2 weeks with a return to baseline levels by 12 months. This level was maintained until 3 years. Non-carriers showed sustained decreases after testing with a significantly lower level at 3 years compared with baseline (P depression and anxiety scores did not differ between carriers and non-carriers and, at 3 years, were similar to baseline. All carriers and 7% of non-carriers had had a colonoscopy by 3 years, and 69% of 13 female carriers had undergone gynecological screening in the previous 2 years. Prophylactic surgery was rare. This report of long-term data indicates appropriate screening and improved psychological measures for non-carriers with no evidence of undue psychological distress in carriers of hereditary nonpolyposis colorectal cancer mutations.

  1. Difficult Questions and Ambivalent Answers on Genetic Testing

    Directory of Open Access Journals (Sweden)

    Andréa Wiszmeg

    2012-11-01

    Full Text Available A qualitative pilot study on the attitudes of some citizens in southern Sweden toward predictive genetic testing – and a quantitative nation wide opinion poll targeting the same issues, was initiated by the Cultural Scientific Research Team of BAGADILICO. The latter is an international biomedical research environment on neurological disease at Lund University. The data of the two studies crystallized through analysis into themes around which the informants’ personal negotiations of opinions and emotions in relation to the topic centred: Concept of Risk,‘Relations and Moral Multi-layers, Worry, Agency and Autonomy, Authority, and Rationality versus Emotion. The studies indicate that even groups of people that beforehand are non-engaged in the issue, harbour complex and ambivalent emotions and opinions toward questions like this. A certain kind of situation bound pragmatism that with difficulty could be shown by quantitative methods alone emerges. This confirms our belief that methodological consideration of combining quantitative and qualitative methods is crucial for gaining a more complex representation of attitudes, as well as for problematizing the idea of a unified public open to inquiry.

  2. Phytophthora ramorum and sudden oak death in California: III. preliminary studies in pathogen genetics

    Science.gov (United States)

    Matteo Garbelotto; David M. Rizzo; Katie Hayden; Monica Meija-Chang; Jennifer M. Davidson; Steven Tjosvold

    2002-01-01

    Sudden oak death (SOD) has been shown to be caused by a new species of Phytophthora, P. ramorum. A basic understanding of the genetics of P. ramorum is critical to any management strategy. We have initiated a number of studies to examine species concepts, population biology and mating behavior of the pathogen....

  3. A preliminary investigation into the genetic variation and population structure of Taenia hydatigena from Sardinia, Italy.

    Science.gov (United States)

    Boufana, Belgees; Scala, Antonio; Lahmar, Samia; Pointing, Steve; Craig, Philip S; Dessì, Giorgia; Zidda, Antonella; Pipia, Anna Paola; Varcasia, Antonio

    2015-11-30

    Cysticercosis caused by the metacestode stage of Taenia hydatigena is endemic in Sardinia. Information on the genetic variation of this parasite is important for epidemiological studies and implementation of control programs. Using two mitochondrial genes, the cytochrome c oxidase subunit 1 (cox1) and the NADH dehydrogenase subunit 1 (ND1) we investigated the genetic variation and population structure of Cysticercus tenuicollis from Sardinian intermediate hosts and compared it to that from other hosts from various geographical regions. The parsimony cox1 network analysis indicated the existence of a common lineage for T. hydatigena and the overall diversity and neutrality indices indicated demographic expansion. Using the cox1 sequences, low pairwise fixation index (Fst) values were recorded for Sardinian, Iranian and Palestinian sheep C. tenuicollis which suggested the absence of genetic differentiation. Using the ND1 sequences, C. tenuicollis from Sardinian sheep appeared to be differentiated from those of goat and pig origin. In addition, goat C. tenuicollis were genetically different from adult T. hydatigena as indicated by the statistically significant Fst value. Our results are consistent with biochemical and morphological studies that suggest the existence of variants of T. hydatigena. Copyright © 2015 Elsevier B.V. All rights reserved.

  4. Alu Insertions and Genetic Diversity: A Preliminary Investigation by an Undergraduate Bioinformatics Class

    Science.gov (United States)

    Elwess, Nancy L.; Duprey, Stephen L.; Harney, Lindesay A.; Langman, Jessie E.; Marino, Tara C.; Martinez, Carolina; McKeon, Lauren L.; Moss, Chantel I. E.; Myrie, Sasha S.; Taylor, Luke Ryan

    2008-01-01

    "Alu"-insertion polymorphisms were used by an undergraduate Bioinformatics class to study how these insertion sites could be the basis for an investigation in human population genetics. Based on the students' investigation, both allele and genotype "Alu" frequencies were determined for African-American and Japanese populations as well as a…

  5. Reflooding Experimental On Beta Test Loop : The Characterisation And Preliminary Experiment

    International Nuclear Information System (INIS)

    Khairul, H.; Antariksawan, Anhar R.; Sumamo, Edy; Kiswanta; Giarno; Joko, P.; H, Ismu

    2001-01-01

    The characterisation and preliminary experiment of reflooding had been conducted. The characteristics of main system and component had been identified completely. From these characteristics the experiment condition was set up : heated rod voltage was 20 volt, frequency,of pump was 19 Hz, flow rate was 1 m3/h. The first of experiment did not show the phenomena of rewetting. Possibly because the heated rod temperature was too low. For the second experiment, the voltage of heated rod was increased to 22 Volt and the flow rate was decreased. The result was that the nucleation boiling on the surfaced of heated rod, was observed during the water re flooded the test section

  6. Emotional profiles to the Rorschach test in subjects affected by Central Serous Chorioretinopathy: preliminary observations

    Directory of Open Access Journals (Sweden)

    Giovanna Gioffrè

    2013-05-01

    Full Text Available Psychological variables could be related to disorders of vision with particular interest of depressive feautures, but with little attention to dimensions such as stress and anxiety. Psychological stress associated with hyperactivation of the sympathetic autonomic nervous system, is considered the most important risk factor of a rare disorder of vision, the Central Serous Chorioretinopathy (CSC, whose etiology has not yet been clarified. This study to examine the psychological literature regarding to CSC and explore in a preliminary the projective methods of the Rorschach test, any correlations between personality variables and predisposition to CSC.

  7. Preliminary performance test of control rod position indicator for ballscrew type CEDM

    International Nuclear Information System (INIS)

    Yoo, J. Y.; Kim, J. H.; Hu, H.; Lee, J. S.; Kim, J. I.

    2003-01-01

    The reliability and accuracy of the information on control rod position are very important to the reactor safety and the design of the core protection system. A survey on the RSPT(Reed Switch Position Transmitter) type control rod position indication system and its actual implementation in the exiting nuclear power plants in Korea was performed first. The prototype of control rod position indicator having the high performance for the ballscrew type CEDM was developed on the basis of RSPT technology identified through the survey. The characteristics of control rod position indicator was defined and documented through design procedure and preliminary performance test

  8. Nonlinear Analysis and Preliminary Testing Results of a Hybrid Wing Body Center Section Test Article

    Science.gov (United States)

    Przekop, Adam; Jegley, Dawn C.; Rouse, Marshall; Lovejoy, Andrew E.; Wu, Hsi-Yung T.

    2015-01-01

    A large test article was recently designed, analyzed, fabricated, and successfully tested up to the representative design ultimate loads to demonstrate that stiffened composite panels with through-the-thickness reinforcement are a viable option for the next generation large transport category aircraft, including non-conventional configurations such as the hybrid wing body. This paper focuses on finite element analysis and test data correlation of the hybrid wing body center section test article under mechanical, pressure and combined load conditions. Good agreement between predictive nonlinear finite element analysis and test data is found. Results indicate that a geometrically nonlinear analysis is needed to accurately capture the behavior of the non-circular pressurized and highly-stressed structure when the design approach permits local buckling.

  9. Genetic predisposition to fracture non-union: a case control study of a preliminary single nucleotide polymorphisms analysis of the BMP pathway

    Directory of Open Access Journals (Sweden)

    Giannoudis Peter V

    2011-02-01

    Full Text Available Abstract Background Despite the known multi-factorial nature of atrophic fracture non-unions, a possible genetic predisposition for the development of this complication after long bone fractures remains unknown. This pilot study aimed to address this issue by performing a preliminary SNP analysis of specific genes known to regulate fracture healing. Methods A total of fifteen SNPs within four genes of the Bone Morphogenetic Protein (BMP pathway (BMP-2, BMP-7, NOGGIN and SMAD6 were examined, in 109 randomly selected patients with long bone fractures as a result of motor vehicle accident, fall or direct blow. There were sixty-two patients with atrophic non-union and forty-seven patients (54 fractures with uneventful fracture union. Overall SNPs frequencies were computed with respect to patient's age, gender, smoking habits, fracture-associated parameters and the use of nonsteroidal anti-inflammatory drugs (NSAIDs, and tested for their association to the impaired bone healing process, using binary logistic regression (STATA 11.1; StataCorp, Texas USA. Results Statistical analysis revealed age to be an important covariate in the development of atrophic non-union (p = 0.01, OR 1.05 [per year], and two specific genotypes (G/G genotype of the rs1372857 SNP, located on NOGGIN and T/T genotype of the rs2053423 SNP, located on SMAD6 to be associated with a greater risk of fracture non-union (p = 0.02, OR 4.56 and p = 0.04, OR 10.27, respectively, after adjustment for age. Conclusions This is the first clinical study to investigate the potential existence of genetic susceptibility to fracture non-union. Even though no concrete conclusions can be obtained from this pilot study, our results indicate the existence of a potential genetically predetermined impairment within the BMP signalling cascade, initiated after a fracture and when combined with other risk factors could synergistically increase the susceptibility of a patient to develop non-union. Further

  10. Preliminary tests on a new near-infrared continuous-wave tissue oximeter

    Science.gov (United States)

    Casavola, Claudia; Cicco, Giuseppe; Pirrelli, Anna; Lugara, Pietro M.

    2000-11-01

    We present a preliminary study, in vitro and in vivo, with a novel device for near-infrared tissue oximetry. The light sources used are two quasi-continuous-wave LEDs, emitting at 656 and 851 nm, and the detector is a photodiode. The data are acquired in back-scattering configuration, thus allowing the non-invasive characterization of thick tissues. Stability tests were performed by placing the optical probe on a tissue- like phantom and acquiring data for periods of time ranging from 5 to 40 minutes. No significant drifts in the DC signal were observed after a warm-up period of no more than 10 minutes. We performed reproducibility tests by repositioning the optical probe on the phantom for a number of times. We found a reproducibility better than 5% in the DC signal. We also present the results of a preliminary study conducted in vivo, on the calf muscle of human subjects. We report a comparison of the results obtained with the near-infrared oximeter with the values of blood oxygenation ctO2 measured with conventional chemical tests.

  11. Predictive value of testing for multiple genetic variants in multifactorial

    NARCIS (Netherlands)

    A.C.J.W. Janssens (Cécile); M.J. Khoury (Muin Joseph)

    2009-01-01

    textabstractMultifactorial diseases such as type 2 diabetes, osteoporosis, and cardiovascular disease are caused by a complex interplay of many genetic and nongenetic factors, each of which conveys a minor increase in the risk of disease. Unraveling the genetic origins of these diseases is

  12. Proposal for a Test Protocol for Genetically Modified Plants

    DEFF Research Database (Denmark)

    Strandberg, B.; Kjær, C.

    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...

  13. Ethical and Social Implications of Genetic Testing for Communication Disorders

    Science.gov (United States)

    Arnos, Kathleen S.

    2008-01-01

    Advances in genetics and genomics have quickly led to clinical applications to human health which have far-reaching consequences at the individual and societal levels. These new technologies have allowed a better understanding of the genetic factors involved in a wide range of disorders. During the past decade, incredible progress has been made in…

  14. Persian competing word test: Development and preliminary results in normal children

    Directory of Open Access Journals (Sweden)

    Mohammad Ebrahim Mahdavi

    2008-12-01

    Full Text Available Background and Aim: Assessment of central auditory processing skills needs various behavioral tests in format of a test battery. There is a few Persian speech tests for documenting central auditory processing disorders. The purpose of this study was developing a dichotic test formed of one-syllabic words suitable for evaluation of central auditory processing in Persian language children and reporting its preliminary results in a group of normal children.Materials and Methods: Persian words in competing manner test was developed utilizing most frequent monosyllabic words in children storybooks reported in the previous researches. The test was performed at MCL on forty-five normal children (39 right-handed and 6 left-handed aged 5-11 years. The children did not show any obvious problem in hearing, speech, language and learning. Free (n=28 and directed listening (n=17 tasks were investigated.Results: The results show that in directed listening task, there is significant advantage for performance of pre-cued ear relative to opposite side. Right ear advantage is evident in free recall condition. Average performance of the children in directed recall is significantly better than free recall. Average row score of the test increases with the children age.Conclusion: Persian words in competing manner test as a dichotic test, can show major characteristics of dichotic listening and effect of maturation of central auditory system on it in normal children.

  15. Preliminary investigation of genetic characterization of native and endemic fowl types of Sri Lanka

    International Nuclear Information System (INIS)

    Silva, L.P.; Rajapaksha, W.R.A.K.J.S.

    2005-01-01

    The Red Jungle Fowl (Gallus gallus) is generally considered to be main ancestor of the domestic fowl (Callus domesticus). However, it is also believed that other wild Callus species might have contributed to the modern genetic make-up of the domestic fowl, one wild species being the Ceylon Jungle Fowl (Gallus lafayetti), endemic to Sri Lanka, which could have contributed to the domestic stock of Sri Lankan native poultry. The present study was conducted in order to investigate the origin of native fowl in Sri Lanka and to establish genetic relationships among them and the Ceylon Jungle Fowl. Morphological characters of endemic, indigenous and exotic fowl types were recorded. These included Ceylon Jungle fowl; eleven types of native chicken from Sri Lanka; and two exotic chicken breeds (Cornish and Rhode Island Red). Blood samples were collected for DNA extraction. Randomly Amplified Polymorphic DNA (RAPD) analysis was carried out using sixteen non-specific primers. The results of morphological characterization revealed many variations in plumage and colour pattern. Single and pea comb types were found in both native and exotic types of chicken. A prominent yellow colour marking on a red comb was a unique feature in Ceylon Jungle fowl. The presence of white spots in red earlobes was a distinguishing feature of all native chicken types. Sixteen non-specific primers were used in the study, and produced 22 polymorphic bands ranging from 500 to 1960 bp. Genetic similarity indices ranged from 0.5 to 1.1 in average genetic distance scale, indicating a broad genetic base in the samples studied. Cluster analysis revealed a clear separation of Ceylon Jungle Fowl from all other types studied, indicating that contribution in data analysis, and the Director and staff, National Zoological Gardens, Sri Lanka, for their help in sampling Ceylon Jungle Fowl. (author)

  16. Detail design of test loop for FIV in fuel bundle and preliminary test

    Energy Technology Data Exchange (ETDEWEB)

    Sim, Woo Gunl; Lee, Wan Young; Kim, Sung Won [Hannam University, Taejeon (Korea)

    2002-04-01

    It is urgent to develop the analytical model for the structural/mechanical integrity of fuel rod. In general, it is not easy to develop a pure analytical model. Occasionally, experimental results have been utilized for the model.Because of this reason, it is required to design proper test loop. Using the optimized test loop, With the optimized test loop, the dynamic behaviour of the rod will be evaluated and the critical flow velocity, which the rod loses the stability in, will be measured for the design of the rod. To verify the integrity of the fuel rod, it is required to evaluate the dynamic behaviour and the critical flow velocity with the test loop. The test results will be utilized to the design of the rod. Generally, the rod has a ground vibration due to turbulence in wide range of flow velocity and the amplitude of vibration becomes larger by the resonance, in a range of the velocity where occurs vortex. The rod loses stability in critical flow velocity caused by fluid-elastic instability. For the purpose of the present work to perform the conceptional design of the test loop, it is necessary (1) to understand the mechanism of the flow-induced vibration and the related experimental coefficients, (2) to evaluate the existing test loops for improving the loop with design parameters and (3) to decide the design specifications of the major equipments of the loop. 35 refs., 14 figs., 4 tabs. (Author)

  17. Mineralogical test as a preliminary step for metallurgical proses of Kalan ores

    International Nuclear Information System (INIS)

    Affandi, K.

    1998-01-01

    Mineralogical tests as a preliminary step for hydrometallurgy of Kalan ores, including Eko Remaja and Rirang have been carried out to identify the elements and minerals content which affect the metallurgical process, especially the leaching and purification of uranium. Mineralogical tests have been done by means of radioactive and radioluxugraph tests to identify radioactive minerals; thin specimen analysis, Scanning Electron Microscopy (SEM) to identify elements and morphology, EPMA to analyse qualitatively the elements, X-ray Diffractometer (XRD) to identify of minerals content; and X-ray Fluorescence (XRF) and chemical analyses to determine total elements qualitatively and quantitatively. The experimental results show that the Eko Remaja ores contain uraninite and brannerite, iron and titan oxides, sulfides, phosphates and silicates minerals, while the Rirang ores contain uraninite, monazite and molybdenite

  18. Preliminary research on eddy current bobbin quantitative test for heat exchange tube in nuclear power plant

    Science.gov (United States)

    Qi, Pan; Shao, Wenbin; Liao, Shusheng

    2016-02-01

    For quantitative defects detection research on heat transfer tube in nuclear power plants (NPP), two parts of work are carried out based on the crack as the main research objects. (1) Production optimization of calibration tube. Firstly, ASME, RSEM and homemade crack calibration tubes are applied to quantitatively analyze the defects depth on other designed crack test tubes, and then the judgment with quantitative results under crack calibration tube with more accuracy is given. Base on that, weight analysis of influence factors for crack depth quantitative test such as crack orientation, length, volume and so on can be undertaken, which will optimize manufacture technology of calibration tubes. (2) Quantitative optimization of crack depth. Neural network model with multi-calibration curve adopted to optimize natural crack test depth generated in in-service tubes shows preliminary ability to improve quantitative accuracy.

  19. Public Health Genomics and Genetic Test Evaluation: The Challenge of Conducting Behavioural Research on the Utility of Lifestyle-Genetic Tests

    OpenAIRE

    Sanderson, Saskia C.; Wardle, Jane; Humphries, Steve E.

    2008-01-01

    Human genetics research is increasingly concerned with multifactorial conditions such as diabetes and heart disease, which are influenced not only by genetic but also lifestyle factors such as diet and smoking. Although the results of ‘lifestyle-genetic’ tests using this information could conceivably motivate lifestyle changes in the future, companies are already selling such tests and related lifestyle advice commercially. Some academics and lobby groups have condemned the companies for sell...

  20. Genetic Testing between Private and Public Interests: Some Legal and Ethical Reflections.

    Science.gov (United States)

    Sándor, Judit

    2018-01-01

    In Europe, there is a wide variety of genetic tests that various private companies offer to patients or to consumers. More and more people have become curious about their genetic predisposition and susceptibility. Most public health-care systems, however, are not adequately prepared for responding to these new demands and to the results of these genetic tests as, quite often, there is no available therapy for the identified genetic condition. This discrepancy between the newly emerging expectations and the insufficient responses contributes to a further rift between the public and private sectors of health care. Individual genetic test results may also trigger the need for personalized medicine and may open up a competition between the two fields in offering further genetic tests and medical exams. Pro-active patients may need a different kind of information on genetic tests and their implications. In this context, how should the public health system deal with the challenges of private testing? Will private genetic testing transform health care from a solidarity-based system to an individualistic one? In this paper, I would like to explore the emerging legal and ethical issues related to genetic testing and the relevant legal framework that has developed so far. In the conclusion, I will examine the possibilities of further legal development.

  1. Genetic Testing between Private and Public Interests: Some Legal and Ethical Reflections

    Directory of Open Access Journals (Sweden)

    Judit Sándor

    2018-01-01

    Full Text Available In Europe, there is a wide variety of genetic tests that various private companies offer to patients or to consumers. More and more people have become curious about their genetic predisposition and susceptibility. Most public health-care systems, however, are not adequately prepared for responding to these new demands and to the results of these genetic tests as, quite often, there is no available therapy for the identified genetic condition. This discrepancy between the newly emerging expectations and the insufficient responses contributes to a further rift between the public and private sectors of health care. Individual genetic test results may also trigger the need for personalized medicine and may open up a competition between the two fields in offering further genetic tests and medical exams. Pro-active patients may need a different kind of information on genetic tests and their implications. In this context, how should the public health system deal with the challenges of private testing? Will private genetic testing transform health care from a solidarity-based system to an individualistic one? In this paper, I would like to explore the emerging legal and ethical issues related to genetic testing and the relevant legal framework that has developed so far. In the conclusion, I will examine the possibilities of further legal development.

  2. Verification of consumers' experiences and perceptions of genetic discrimination and its impact on utilization of genetic testing.

    Science.gov (United States)

    Barlow-Stewart, Kristine; Taylor, Sandra D; Treloar, Susan A; Stranger, Mark; Otlowski, Margaret

    2009-03-01

    To undertake a systematic process of verification of consumer accounts of alleged genetic discrimination. Verification of incidents reported in life insurance and other contexts that met the criteria of genetic discrimination, and the impact of fear of such treatment, was determined, with consent, through interview, document analysis and where appropriate, direct contact with the third party involved. The process comprised obtaining evidence that the alleged incident was accurately reported and determining whether the decision or action seemed to be justifiable and/or ethical. Reported incidents of genetic discrimination were verified in life insurance access, underwriting and coercion (9), applications for worker's compensation (1) and early release from prison (1) and in two cases of fear of discrimination impacting on access to genetic testing. Relevant conditions were inherited cancer susceptibility (8), Huntington disease (3), hereditary hemochromatosis (1), and polycystic kidney disease (1). In two cases, the reversal of an adverse underwriting decision to standard rate after intervention with insurers by genetics health professionals was verified. The mismatch between consumer and third party accounts in three life insurance incidents involved miscommunication or lack of information provision by financial advisers. These first cases of verified genetic discrimination make it essential for policies and guidelines to be developed and implemented to ensure appropriate use of genetic test results in insurance underwriting, to promote education and training in the financial industry, and to provide support for consumers and health professionals undertaking challenges of adverse decisions.

  3. The impact of direct-to-consumer marketing of cancer genetic testing on women according to their genetic risk.

    Science.gov (United States)

    Lowery, Jan T; Byers, Tim; Axell, Lisen; Ku, Lisa; Jacobellis, Jillian

    2008-12-01

    To assess the impact of direct-to-consumer marketing for genetic testing among women of varying genetic risk for breast and ovarian cancer. Telephone surveys were conducted with 315 women in Denver, Colorado, one target audience for the Myriad BRACAnalysis ad campaign. Genetic risk was determined from personal and family history and grouped by probability of having a BRCA1/2 mutation (low or =10%). High-risk women were more knowledgeable about BRACAnalysis and more likely to recall the media ads than were low-risk women (60 vs. 39%, P audience. Concern about breast cancer was not appreciably increased. A large percentage of low-risk women (not candidates for testing) expressed interest in testing, suggesting the campaign was too broad. A campaign targeted at high-risk women, who may benefit from testing might be preferred.

  4. Genetic variability within the Polish population of red fox (Vulpes vulpes – preliminary results

    Directory of Open Access Journals (Sweden)

    Magdalena Zatoń-Dobrowolska

    2016-09-01

    Full Text Available Red fox (Vulpes vulpes represents family Canidae and is a very common predator in Poland. Foxes are present throughout all the country in a different geographical regions and habitats. The analyzed dataset consisted of 130 red foxes (Vulpes vulpes. There were 24 microsatellite sequences studied. The observed (HO and expected (HS heterozygosities were comparable within respective loci. The low genetic diversity of the population was found.

  5. Post-test thermomechanical calulations and preliminary data analysis for the Spent Fuel Test: Climax

    International Nuclear Information System (INIS)

    Butkovich, T.R.; Patrick, W.C.

    1985-09-01

    The Spent Fuel Test - Climax (SFT-C) was conducted to evaluate the feasibility of retrievable deep geologic storage of commercially generated, spent nuclear-reactor fuel assemblies. Thermomechanical response of the SFT-C was calculated before the test began using the finite-element structural analysis code ADINA and its companion heat transfer code ADINAT. While we found that the level of agreement between measured and calculated rock displacements was quite good, we needed to revise certain aspects of the heat transfer calculation, material properties, and in situ stresses to incorporate information obtained during and after the heated phase of the test. The post-test calculations reported here were performed using the best available input parameters, thermal and mechanical properties, and power levels that were directly measured or inferred from measurements made during the test. This report documents the results of these calculations and compares those results with selected measurements made during the 3-year heating phase and 6-month cooling phase of the SFT-C

  6. Preliminary assessment of framework conditions for release of genetically modified mosquitoes in Burkina Faso.

    Science.gov (United States)

    De Freece, Chenoa; Paré Toé, Léa; Esposito, Fulvio; Diabaté, Abdoulaye; Favia, Guido

    2014-09-01

    Genetically modified mosquitoes (GMMs) are emerging as a measure to control mosquito-borne diseases, but before any genetically modified organisms (GMOs) are released into the environment, it is imperative to establish regulatory standards incorporating public engagement. A previous project in Burkina Faso introduced a type of genetically modified cotton [Bacillus thuringiensis (Bt)] cotton) that produces insecticide, and incorporated policies on public engagement. We explored the perspectives of Burkinabè (citizens of Burkina Faso) on bio-agricultural exposure to GMOs and their receptiveness to the use of GMOs. Interviews were conducted in a village (Bondoukuy) and with representatives from stakeholder organizations. The population may be very receptive to the use of GMMs against malaria, but may voice unfounded concerns that GMMs can transmit other diseases. It is important to constantly supply the population with correct and factual information. Investigating the application of Burkina Faso's biotechnology policies with regard to Bt cotton has shown that it may be conceivable in the future to have open discussions about the merits of GMM release. © The Author 2014. Published by Oxford University Press on behalf of Royal Society of Tropical Medicine and Hygiene. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  7. Preliminary irradiation test results from the Yankee Atomic Electric Company reactor vessel test irradiation program

    International Nuclear Information System (INIS)

    Biemiller, E.C.; Fyfitch, Stephen; Campbell, C.A.

    1994-01-01

    The Yankee Atomic Electric Company test irradiation program was implemented to characterize the irradiation response of representative Yankee Rowe reactor vessel beltline plate materials and to remove uncertainties in the analysis of existing irradiation data on the Yankee Rowe reactor vessel steel. Plate materials each containing 0.24 w/o copper, but different nickel contents at 0.63 w/o and 0.19 w/o, were heat treated to simulate the Yankee vessel heat treatment (austenitized at 982 o C (1800 o F)) and to simulate Regulatory Guide 1.99 database materials (austenitized at 871 o C (1600 o F)). These heat treatments produced different microstructures so the effect of microstructure on irradiation damage sensitivity could be tested. Because the nickel content of the test plates varied and the copper level was constant, the effect of nickel on irradiation embrittlement was also tested. Correlation monitor material, HSST-02, was included in the program to benchmark the Ford Nuclear Reactor (University of Michigan Test Reactor) which had never been used before for this type of irradiation program. Materials taken from plate surface locations (versus 1/4 T) were included to test whether or not the improved toughness properties of the plate surface layer, resulting from the rapid quench, are maintained after irradiation. If the improved properties are maintained, pressurized thermal shock calculations could utilize this margin. Finally, for one experiment, irradiations were conducted at two irradiation temperatures (260 o C and 288 o C) to determine the effect of irradiation temperature on embrittlement. (Author)

  8. Preliminary Calculations of Bypass Flow Distribution in a Multi-Block Air Test

    International Nuclear Information System (INIS)

    Kim, Min Hwan; Tak, Nam Il

    2011-01-01

    The development of a methodology for the bypass flow assessment in a prismatic VHTR (Very High Temperature Reactor) core has been conducted at KAERI. A preliminary estimation of variation of local bypass flow gap size between graphite blocks in the NHDD core were carried out. With the predicted gap sizes, their influence on the bypass flow distribution and the core hot spot was assessed. Due to the complexity of gap distributions, a system thermo-fluid analysis code is suggested as a tool for the core thermo-fluid analysis, the model and correlations of which should be validated. In order to generate data for validating the bypass flow analysis model, an experimental facility for a multi-block air test was constructed at Seoul National University (SNU). This study is focused on the preliminary evaluation of flow distribution in the test section to understand how the flow is distributed and to help the selection of experimental case. A commercial CFD code, ANSYS CFX is used for the analyses

  9. Genetic tests obtainable through pharmacies: the good, the bad, and the ugly.

    Science.gov (United States)

    Patrinos, George P; Baker, Darrol J; Al-Mulla, Fahd; Vasiliou, Vasilis; Cooper, David N

    2013-07-08

    Genomic medicine seeks to exploit an individual's genomic information in the context of guiding the clinical decision-making process. In the post-genomic era, a range of novel molecular genetic testing methodologies have emerged, allowing the genetic testing industry to grow at a very rapid pace. As a consequence, a considerable number of different private diagnostic testing laboratories now provide a wide variety of genetic testing services, often employing a direct-to-consumer (DTC) business model to identify mutations underlying (or associated with) common Mendelian disorders, to individualize drug response, to attempt to determine an individual's risk of a multitude of complex (multifactorial) diseases, or even to determine a person's identity. Recently, we have noted a novel trend in the provision of private molecular genetic testing services, namely saliva and buccal swab collection kits (for deoxyribonucleic acid (DNA) isolation) being offered for sale over the counter by pharmacies. This situation is somewhat different from the standard DTC genetic testing model, since pharmacists are healthcare professionals who are supposedly qualified to give appropriate advice to their clients. There are, however, a number of issues to be addressed in relation to the marketing of DNA collection kits for genetic testing through pharmacies, namely a requirement for regulatory clearance, the comparative lack of appropriate genetics education of the healthcare professionals involved, and most importantly, the lack of awareness on the part of both the patients and the general public with respect to the potential benefits or otherwise of the various types of genetic test offered, which may result in confusion as to which test could be beneficial in their own particular case. We believe that some form of genetic counseling should ideally be integrated into, and made inseparable from, the genetic testing process, while pharmacists should be obliged to receive some basic

  10. Preliminary definition of the remote handling system for the current IFMIF Test Facilities

    Energy Technology Data Exchange (ETDEWEB)

    Queral, V., E-mail: vicentemanuel.queral@ciemat.es [Laboratorio Nacional de Fusion, EURATOM-CIEMAT, 28040 Madrid (Spain); Urbon, J. [Laboratorio Nacional de Fusion, EURATOM-CIEMAT, 28040 Madrid (Spain); Instituto de Fusion Nuclear, Universidad Politecnica de Madrid, 28006 Madrid (Spain); Garcia, A.; Cuarental, I.; Mota, F. [Laboratorio Nacional de Fusion, EURATOM-CIEMAT, 28040 Madrid (Spain); Micciche, G. [CR ENEA Brasimone, I-40035 Camugnano (BO) (Italy); Ibarra, A. [Laboratorio Nacional de Fusion, EURATOM-CIEMAT, 28040 Madrid (Spain); Rapisarda, D. [Laboratorio Nacional de Fusion, EURATOM-CIEMAT, 28040 Madrid (Spain); Instituto de Fusion Nuclear, Universidad Politecnica de Madrid, 28006 Madrid (Spain); Casal, N. [Laboratorio Nacional de Fusion, EURATOM-CIEMAT, 28040 Madrid (Spain)

    2011-10-15

    A coherent design of the remote handling system with the design of the components to be manipulated is vital for reliable, safe and fast maintenance, having a decisive impact on availability, occupational exposures and operational cost of the facility. Highly activated components in the IFMIF facility are found at the Test Cell, a shielded pit where the samples are accurately located. The remote handling system for the Test Cell reference design was outlined in some past IFMIF studies. Currently a new preliminary design of the Test Cell in the IFMIF facility is being developed, introducing important modifications with respect to the reference one. This recent design separates the previous Vertical Test Assemblies in three functional components: Test Modules, shielding plugs and conduits. Therefore, it is necessary to adapt the previous design of the remote handling system to the new maintenance procedures and requirements. This paper summarises such modifications of the remote handling system, in particular the assessment of the feasibility of a modified commercial multirope crane for the handling of the weighty shielding plugs for the new Test Cell and a quasi-commercial grapple for the handling of the new Test Modules.

  11. Preliminary definition of the remote handling system for the current IFMIF Test Facilities

    International Nuclear Information System (INIS)

    Queral, V.; Urbon, J.; Garcia, A.; Cuarental, I.; Mota, F.; Micciche, G.; Ibarra, A.; Rapisarda, D.; Casal, N.

    2011-01-01

    A coherent design of the remote handling system with the design of the components to be manipulated is vital for reliable, safe and fast maintenance, having a decisive impact on availability, occupational exposures and operational cost of the facility. Highly activated components in the IFMIF facility are found at the Test Cell, a shielded pit where the samples are accurately located. The remote handling system for the Test Cell reference design was outlined in some past IFMIF studies. Currently a new preliminary design of the Test Cell in the IFMIF facility is being developed, introducing important modifications with respect to the reference one. This recent design separates the previous Vertical Test Assemblies in three functional components: Test Modules, shielding plugs and conduits. Therefore, it is necessary to adapt the previous design of the remote handling system to the new maintenance procedures and requirements. This paper summarises such modifications of the remote handling system, in particular the assessment of the feasibility of a modified commercial multirope crane for the handling of the weighty shielding plugs for the new Test Cell and a quasi-commercial grapple for the handling of the new Test Modules.

  12. Stress analysis of HLW containers. Preliminary ring test exercise Compas project

    International Nuclear Information System (INIS)

    1989-01-01

    This document describes the series of experiments and associated calculations performed as the Compas preliminary ring test exercise. A number of mild steel rings, representative of sections through HLW containers, some notched and pre-cracked, were tested in compression right up to and beyond their ultimate load. The Compas project partners independently modelled the behaviour of these rings using their finite element codes. Four different ring types were tested, and each test was repeated three times. For three of the ring types, the three test repetitions gave identical results. The fourth ring, which was not modelled by the partners, had a 4 mm thick layer of weld metal deposited on its surface. The three tests on this ring did not give identical results and suggested that the effect of welding methods should be addressed at a later stage of the project. Fracture was not found to be a significant cause of ring failure. The results of the ring tests were compared with the partners predictions, and additionally some time was spent assessing where the use of the codes could be improved. This exercise showed that the partners codes have the ability to produce results within acceptable limits. Most codes were unable to model stable crack growth. There were indications that some codes would not be able to cope with a significantly more complex three-dimensional analysis

  13. EDITORIAL Clinical issues in genetic testing for multifactorial diseases

    African Journals Online (AJOL)

    Given the importance of MDs, detection of genetic predisposition is potentially attractive ... burden for affected individuals and families: disease is often early onset and ... to detection of BRCA-related breast cancer in a local public health sector.

  14. Influence of mechanical stress level in preliminary stress-corrosion testing on fatigue strength of a low-carbon steel

    International Nuclear Information System (INIS)

    Aleskerova, S.A.; Pakharyan, V.A.

    1978-01-01

    Effect of corrosion and mechanical factors of preliminary stress corrosion of a metal in its fatigue strength, has been investigated. Smooth cylindrical samples of 20 steel have been tested. Preliminary corrosion under stress has been carried out under natural sea conditions. It is shown that mechanical stresses in the case of preliminary corrosion affect fatigue strength of low-carbon steels, decreasing the range of limited durability and fatigue limit. This effect increases with the increase of stress level and agressivity of corrosive medium

  15. Legislation on direct-to-consumer genetic testing in seven European countries.

    Science.gov (United States)

    Borry, Pascal; van Hellemondt, Rachel E; Sprumont, Dominique; Jales, Camilla Fittipaldi Duarte; Rial-Sebbag, Emmanuelle; Spranger, Tade Matthias; Curren, Liam; Kaye, Jane; Nys, Herman; Howard, Heidi

    2012-07-01

    An increasing number of private companies are now offering direct-to-consumer (DTC) genetic testing services. Although a lot of attention has been devoted to the regulatory framework of DTC genetic testing services in the USA, only limited information about the regulatory framework in Europe is available. We will report on the situation with regard to the national legislation on DTC genetic testing in seven European countries (Belgium, the Netherlands, Switzerland, Portugal, France, Germany, the United Kingdom). The paper will address whether these countries have legislation that specifically address the issue of DTC genetic testing or have relevant laws that is pertinent to the regulatory control of these services in their countries. The findings show that France, Germany, Portugal and Switzerland have specific legislation that defines that genetic tests can only be carried out by a medical doctor after the provision of sufficient information concerning the nature, meaning and consequences of the genetic test and after the consent of the person concerned. In the Netherlands, some DTC genetic tests could fall under legislation that provides the Minister the right to refuse to provide a license to operate if a test is scientifically unsound, not in accordance with the professional medical practice standards or if the expected benefit is not in balance with the (potential) health risks. Belgium and the United Kingdom allow the provision of DTC genetic tests.

  16. Genetic test feedback with weight control advice: study protocol for a randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Meisel Susanne F

    2012-12-01

    Full Text Available Abstract Background Genetic testing for risk of weight gain is already available over the internet despite uncertain benefits and concerns about adverse emotional or behavioral effects. Few studies have assessed the effect of adding genetic test feedback to weight control advice, even though one of the proposed applications of genetic testing is to stimulate preventive action. This study will investigate the motivational effect of adding genetic test feedback to simple weight control advice in a situation where weight gain is relatively common. Methods/design First-year university students (n = 800 will be randomized to receive either 1 their personal genetic test result for a gene (FTO related to weight gain susceptibility in addition to a leaflet with simple weight control advice (‘Feedback + Advice’ group, FA, or 2 only the leaflet containing simple weight control advice (‘Advice Only’ group, AO. Motivation to avoid weight gain and active use of weight control strategies will be assessed one month after receipt of the leaflet with or without genetic test feedback. Weight and body fat will be measured at baseline and eight months follow-up. We will also assess short-term psychological reactions to the genetic test result. In addition, we will explore interactions between feedback condition and gene test status. Discussion We hope to provide a first indication of the clinical utility of weight-related genetic test feedback in the prevention context. Trial registration Current controlled trials ISRCTN91178663

  17. Should Australia Ban the Use of Genetic Test Results in Life Insurance?

    OpenAIRE

    Tiller, Jane; Otlowski, Margaret; Lacaze, Paul

    2017-01-01

    Under current Australian regulation, life insurance companies can require applicants to disclose all genetic test results, including results from research or direct-to-consumer tests. Life insurers can then use this genetic information in underwriting and policy decisions for mutually rated products, including life, permanent disability, and total income protection insurance. Over the past decade, many countries have implemented moratoria or legislative bans on the use of genetic information ...

  18. Performance of Small Bore 60NiTi Hybrid Ball Bearings: Preliminary Life Test Results

    Science.gov (United States)

    Dellacorte, Christopher; Howard, S. Adam

    2016-01-01

    Small bore (R8 size) hybrid ball bearings made with 60NiTi races and silicon nitride balls are under development for highly corrosive aerospace applications that are also exposed to heavy static (shock) loads. The target application is the vacuum pump used inside the wastewater recycling system on the International Space Station. To verify bearing longevity, life tests are run at 2000rpm for time periods up to 5000 hours. Accelerometers with data tracking are used to monitor operation and the bearings are disassembled and inspected at intervals to assess wear. Preliminary tests show that bearings made from 60NiTi are feasible for this aerospace and potentially other industrial applications that must endure similar operating environments.

  19. In vitro preliminary cytotoxicity testing of vegetal extracts, using colorimetric methods

    Directory of Open Access Journals (Sweden)

    Claudia Patricia Cordero Camacho

    2002-01-01

    Full Text Available To advance in the study of the Colombian vegetal biodiversity, considered as a potential source of pharmacologically active products, the establishment of biological activity evaluation systems is necessary, which allow the detection of active products against pathologies with high social and economical impact, such as cancer. This work describes the implementation of a preliminary in vitro methodology for the determination of potential anticancer activity in vegetal extracts, by cytotoxicity testing upon human tumor cell lines, measuring the cellular mass indirectly with the colorimetric assays of MTT (methyl tetrazolium tiazole reduction and SRB (sulforhodamine Bstaining. HT-29, MCF-7, SiHa and HEp-2 cell lines cultures were adapted, MTT concentration, cellular density and treatment period parameters for the cytotoxicity assay were selected. Cell lines sensitivity to the chemotherapeutic agent Doxorubicin HCl was determined. Colombian vegetal species extracts cytotoxicity was tested and usefulness of the assay as a tool to bioguide the search of active products was evidenced.

  20. In vitro preliminary cytotoxicity testing of vegetal extracts, using colorimetric methods

    Directory of Open Access Journals (Sweden)

    Claudia Patricia Cordero Camacho

    2011-12-01

    Full Text Available To advance in the study of the Colombian vegetal biodiversity, considered as a potential source of pharmacologically active products, the establishment of biological activity evaluation systems is necessary, which allow the detection of active products against pathologies with high social and economical impact, such as cancer. This work describes the implementation of a preliminary in vitro methodology for the determination of potential anticancer activity in vegetal extracts, by cytotoxicity testing upon human tumor cell lines, measuring the cellular mass indirectly with the colorimetric assays of MTT (methyl tetrazolium tiazole reduction and SRB (sulforhodamine Bstaining. HT-29, MCF-7, SiHa and HEp-2 cell lines cultures were adapted, MTT concentration, cellular density and treatment period parameters for the cytotoxicity assay were selected. Cell lines sensitivity to the chemotherapeutic agent Doxorubicin HCl was determined. Colombian vegetal species extracts cytotoxicity was tested and usefulness of the assay as a tool to bioguide the search of active products was evidenced.

  1. [Views of Icelandic women towards genetic counseling - and testing of BRCA2 mutations].

    Science.gov (United States)

    Jonsdottir, Thordis; Valdimarsdottir, Heiddis; Tryggvadottir, Laufey; Lund, Sigrun Helga; Thordardottir, Marianna; Magnusson, Magnus Karl; Valdimarsdottir, Unnur

    2018-01-01

    Introduction The aim of this study was to explore the attitudes of Icelandic women towards existing genetic information, genetic counseling and genetic testing for BRCA mutations which dramatically increase risk for aggressive cancers. Materials and methods Women attending the cancer prevention clinic in Reykjavik, capital of Iceland, from October 12th until November 20th 2015 received an invitation to participate. Participation involved answering a short online questionnaire about background, family history of cancer as well as attitudes towards genetic counseling, BRCA testing and preventive use of such information. Descriptive statistics and chi-square tests were used to describe differences in attitudes towards those questions between subgroups of women. Results 1129 women (69% response rate) answered the questionnaire. Mean age was 47 years (span 21-76 years). Around half (47%) had heard fairly much about the mutations. Independent of family history of cancer, the majority of women were positive towards receiving genetic counseling (79%) and to undergo genetic testing (83%) for BRCA mutation with younger women being more interested than older women. On the other hand, only 4% of the women had already received genetic counseling and 7% undergone genetic testing. Women with family history of cancer were more knowledgeable about BRCA mutations (pcounseling and testing for BRCA mutations although half of them worry that a positive result might affect their health insurance. Nevertheless, almost all women believe that existing genetic information should be used to inform carriers for preventive purposes.

  2. Current status of VEGA program and a preliminary test with cesium iodide

    International Nuclear Information System (INIS)

    Hidaka, A.; Nakamura, T.; Kudo, T.; Hayashida, R.; Nakamura, J.; Otomo, T.; Uetsuka, H.

    2000-01-01

    The VEGA program has been performed at JAERI to clarify the mechanism of FP release from irradiated PWR/BWR fuels including MOX fuel and to improve predictability of the source term. The principal purposes are to investigate the release of actinides and FPs including non-volatile radionuclides from irradiated fuel at 3000degC under high pressure condition up to 1.0 MPa. The short-life radionuclides will be accumulated by re-irradiation of test fuel just before the experiment using the JAERI's research reactor such as JRR-3 or NSRR. The test facility was installed into the beta/gamma concrete No.5 cell at RFEF and completed in February, 1999. Before the first VEGA-1 test in September, 1999, a preliminary test using a cold simulant, cesium iodide (CsI) was performed to confirm the fundamental capabilities of the test facility. The test results showed that the trapping efficiency of the aerosol filters is about 98%. The amount of CsI which arrived at the downstream pipe of the filters was quite small while a small amount of I 2 gas which can pass through the filters was condensed just before the cold condenser as expected in the design. (author)

  3. Illusions of scientific legitimacy: misrepresented science in the direct-to-consumer genetic-testing marketplace.

    Science.gov (United States)

    Vashlishan Murray, Amy B; Carson, Michael J; Morris, Corey A; Beckwith, Jon

    2010-11-01

    Marketers of genetic tests often openly or implicitly misrepresent the utility of genetic information. Scientists who are well aware of the current limitations to the utility of such tests are best placed to publicly counter misrepresentations of the science. Copyright © 2010 Elsevier Ltd. All rights reserved.

  4. Genetic testing for exercise prescription and injury prevention: AIS-Athlome consortium-FIMS joint statement.

    Science.gov (United States)

    Vlahovich, Nicole; Hughes, David C; Griffiths, Lyn R; Wang, Guan; Pitsiladis, Yannis P; Pigozzi, Fabio; Bachl, Nobert; Eynon, Nir

    2017-11-14

    There has been considerable growth in basic knowledge and understanding of how genes are influencing response to exercise training and predisposition to injuries and chronic diseases. On the basis of this knowledge, clinical genetic tests may in the future allow the personalisation and optimisation of physical activity, thus providing an avenue for increased efficiency of exercise prescription for health and disease. This review provides an overview of the current status of genetic testing for the purposes of exercise prescription and injury prevention. As such there are a variety of potential uses for genetic testing, including identification of risks associated with participation in sport and understanding individual response to particular types of exercise. However, there are many challenges remaining before genetic testing has evidence-based practical applications; including adoption of international standards for genomics research, as well as resistance against the agendas driven by direct-to-consumer genetic testing companies. Here we propose a way forward to develop an evidence-based approach to support genetic testing for exercise prescription and injury prevention. Based on current knowledge, there is no current clinical application for genetic testing in the area of exercise prescription and injury prevention, however the necessary steps are outlined for the development of evidence-based clinical applications involving genetic testing.

  5. Direct to consumer genetic testing-law and policy concerns in Ireland.

    Science.gov (United States)

    de Paor, Aisling

    2017-11-25

    With rapid scientific and technological advances, the past few years has witnessed the emergence of a new genetic era and a growing understanding of the genetic make-up of human beings. These advances have propelled the introduction of companies offering direct to consumer (DTC) genetic testing, which facilitates the direct provision of such tests to consumers, (for example, via the internet). Although DTC genetic testing offers benefits by enhancing consumer accessibility to such technology, promoting proactive healthcare and increasing genetic awareness, it presents a myriad of challenges, from an ethical, legal and regulatory perspective. As DTC genetic testing usually eliminates the need for a medical professional in accessing genetic tests, this lack of professional guidance and counselling may result in misinterpretation and confusion regarding results. In addition, an evident concern relates to the scientific validity and quality of these tests. A further problem arising is the lack or inadequacy of regulation in this field. Despite the increasing accessibility of DTC genetic testing, this legislative vacuum is apparent in Ireland, where there is no concrete legislation. This article explores the main ethical, legal and regulatory issues arising with the advent of rapid advances in DTC genetic testing in Ireland. Further, with inevitable future advances in genetic science, as well as increasing internet accessibility, the challenges presented are likely to become more amplified. In consideration of the ethical and legal challenges, this paper highlights the regulation of DTC genetic testing as a growing concern in Ireland, recognising its importance to both the scientific community as well as in respect of enhancing consumer confidence in such technologies.

  6. Impact of Genetic Counseling and Connexin-26 and Connexin-30 Testing on Deaf Identity and Comprehension of Genetic Test Results in a Sample of Deaf Adults: A Prospective, Longitudinal Study

    Science.gov (United States)

    Palmer, Christina G. S.; Boudreault, Patrick; Baldwin, Erin E.; Sinsheimer, Janet S.

    2014-01-01

    Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 genetic testing was offered to participants in the context of linguistically and culturally appropriate genetic counseling. Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed. Four deaf identity orientations (hearing, marginal, immersion, bicultural) were evaluated using subscales of the Deaf Identity Development Scale-Revised. We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results. This study demonstrated that culturally and linguistically appropriate genetic counseling can improve deaf clients' understanding of genetic test results, and the formation of deaf identity was not directly related to genetic counseling or Connexin-26 and Connexin-30 genetic test results. PMID:25375116

  7. Evaluating online direct-to-consumer marketing of genetic tests: informed choices or buyers beware?

    Science.gov (United States)

    Geransar, Rose; Einsiedel, Edna

    2008-03-01

    Commercialization of genetic technologies is expanding the horizons for the marketing and sales of genetic tests direct-to-consumers (DTCs). This study assesses the information provision and access requirements that are in place for genetic tests that are being advertised DTC over the Internet. Sets of key words specific to DTC genetic testing were entered into popular Internet search engines to generate a list of 24 companies engaging in DTC advertising. Company requirements for physician mediation, genetic counseling arrangements, and information provision were coded to develop categories for quantitative analysis within each variable. Results showed that companies offering risk assessment and diagnostic testing were most likely to require that testing be mediated by a clinician, and to recommend physician-arranged counseling. Companies offering enhancement testing were less likely to require physician mediation of services and more likely to provide long-distance genetic counseling. DTC advertisements often provided information on disease etiology; this was most common in the case of multifactorial diseases. The majority of companies cited outside sources to support the validity of claims about clinical utility of the tests being advertised; companies offering risk assessment tests most frequently cited all information sources. DTC advertising for genetic tests that lack independent professional oversight raises troubling questions about appropriate use and interpretation of these tests by consumers and carries implications for the standards of patient care. These implications are discussed in the context of a public healthcare system.

  8. Implications of genetic testing for the insurance industry: the UK example.

    Science.gov (United States)

    Raeburn, Sandy

    2002-01-01

    This report summarises the controversy of genetic tests and insurance, with a focus on the UK situation during the past decade. UK experience provides insight for future strategies to help people with genetic disadvantages make insurance provision for themselves and their families. Non-disclosure of genetic test results (already carried out for clinical purposes) may not benefit people at risk of genetic disorders or with positive genetic tests. The pressure of geneticists over a decade to prevent disclosure to insurers may have masked opportunities to use insurance to provide help for people with genetic disadvantages. To seize the opportunities now, there must be collaboration, not conflict. Politicians, geneticists, social scientists and all elements of the insurance industry can contribute to wise solutions.

  9. Development of a Streamlined Work Flow for Handling Patients' Genetic Testing Insurance Authorizations.

    Science.gov (United States)

    Uhlmann, Wendy R; Schwalm, Katie; Raymond, Victoria M

    2017-08-01

    Obtaining genetic testing insurance authorizations for patients is a complex, time-involved process often requiring genetic counselor (GC) and physician involvement. In an effort to mitigate this complexity and meet the increasing number of genetic testing insurance authorization requests, GCs formed a novel partnership with an industrial engineer (IE) and a patient services associate (PSA) to develop a streamlined work flow. Eight genetics clinics and five specialty clinics at the University of Michigan were surveyed to obtain benchmarking data. Tasks needed for genetic testing insurance authorization were outlined and time-saving work flow changes were introduced including 1) creation of an Excel password-protected shared database between GCs and PSAs, used for initiating insurance authorization requests, tracking and follow-up 2) instituting the PSAs sending GCs a pre-clinic email noting each patients' genetic testing insurance coverage 3) inclusion of test medical necessity documentation in the clinic visit summary note instead of writing a separate insurance letter and 4) PSAs development of a manual with insurance providers and genetic testing laboratories information. These work flow changes made it more efficient to request and track genetic testing insurance authorizations for patients, enhanced GCs and PSAs communication, and reduced tasks done by clinicians.

  10. Test description and preliminary pitot-pressure surveys for Langley Test Technique Demonstrator at Mach 6

    Science.gov (United States)

    Everhart, Joel L.; Ashby, George C., Jr.; Monta, William J.

    1992-01-01

    A propulsion/airframe integration experiment conducted in the NASA Langley 20-Inch Mach 6 Tunnel using a 16.8-in.-long version of the Langley Test Technique Demonstrator configuration with simulated scramjet propulsion is described. Schlieren and vapor screen visualization of the nozzle flow field is presented and correlated with pitot-pressure flow-field surveys. The data were obtained at nominal free-stream conditions of Re = 2.8 x 10 exp 6 and a nominal engine total pressure of 100 psia. It is concluded that pitot-pressure surveys coupled to schlieren and vapor-screen photographs, and oil flows have revealed flow features including vortices, free shear layers, and shock waves occurring in the model flow field.

  11. Validating a dance-specific screening test for balance: preliminary results from multisite testing.

    Science.gov (United States)

    Batson, Glenna

    2010-09-01

    Few dance-specific screening tools adequately capture balance. The aim of this study was to administer and modify the Star Excursion Balance Test (oSEBT) to examine its utility as a balance screen for dancers. The oSEBT involves standing on one leg while lightly targeting with the opposite foot to the farthest distance along eight spokes of a star-shaped grid. This task simulates dance in the spatial pattern and movement quality of the gesturing limb. The oSEBT was validated for distance on athletes with history of ankle sprain. Thirty-three dancers (age 20.1 +/- 1.4 yrs) participated from two contemporary dance conservatories (UK and US), with or without a history of lower extremity injury. Dancers were verbally instructed (without physical demonstration) to execute the oSEBT and four modifications (mSEBT): timed (speed), timed with cognitive interference (answering questions aloud), and sensory disadvantaging (foam mat). Stepping strategies were tracked and performance strategies video-recorded. Unlike the oSEBT results, distances reached were not significant statistically (p = 0.05) or descriptively (i.e., shorter) for either group. Performance styles varied widely, despite sample homogeneity and instructions to control for strategy. Descriptive analysis of mSEBT showed an increased number of near-falls and decreased timing on the injured limb. Dancers appeared to employ variable strategies to keep balance during this test. Quantitative analysis is warranted to define balance strategies for further validation of SEBT modifications to determine its utility as a balance screening tool.

  12. Preliminary test results and CFD analysis for Moderator Circulation Test (MCT)

    International Nuclear Information System (INIS)

    Kim, Hyoung Tae

    2015-01-01

    Highlights: • Korea Atomic Energy Research Institute (KAERI) installed the Moderator Circulation Test (MCT) facility. • Velocity profiles for iso-thermal conditions are measured by the Particle Image Velocimetry (PIV). • The PIV measurement results can capture the same flow pattern as that expected in the CANDU6 calandria tank under a momentum dominant flow condition. • More experimental works for the iso-thermal conditions as well as the heating conditions will be performed. • The CFX model will be validated against the PIV measurement data in the future. - Abstract: The moderator flow circulation patterns in CANDU6 reactor are complicated slow flows that significantly vary from buoyancy dominated to inertia dominated patterns. Accurate predictions of flow patterns are essential for accurate calculation of moderator temperature distributions and the related moderator subcooling. The code and its analytical models have therefore to be validated against experiments representative of reactor conditions. Korea Atomic Energy Research Institute (KAERI) installed the Moderator Circulation Test (MCT) facility to simulate the 3 dimensional moderator circulation phenomena in the calandria of CANDU6 reactor and develop the optical measurement system using the Particle Image Velocimetry (PIV). From the present work it is shown that the PIV measurement results can capture the same flow pattern as that expected in the CANDU6 calandria tank under a momentum dominant flow condition, where the inlet jets penetrate the top of the tank and produce a downward flow through the center of the tube columns toward the outlet nozzle, and the flow fields are in symmetric distributions. The measurements of the downward velocities are performed at different locations. The velocity is shown to be axially uniform. The velocity is rapidly decreased as the measurement location is far from the center of the tank, since the downward flow is dominant along the center of the tube columns

  13. Privacy and confidentiality measures in genetic testing and counselling: arguing on genetic exceptionalism again?

    Science.gov (United States)

    Witt, Magdalena M; Witt, Michał P

    2016-11-01

    Medical confidentiality in clinical genetics poses an important question about its scope, which would be in line with professional ethics and simple honesty. It is already known that the maintenance of absolute anonymity, bearing in mind the current progress of genetic techniques, is virtually impossible. On the other hand, our insight into the information contained in the human genome is increasing. This mini-review presents the authors' standpoint regarding this complex and difficult issue.

  14. Bio science: genetic genealogy testing and the pursuit of African ancestry.

    Science.gov (United States)

    Nelson, Alondra

    2008-10-01

    This paper considers the extent to which the geneticization of 'race' and ethnicity is the prevailing outcome of genetic testing for genealogical purposes. The decoding of the human genome precipitated a change of paradigms in genetics research, from an emphasis on genetic similarity to a focus on molecular-level differences among individuals and groups. This shift from lumping to splitting spurred ongoing disagreements among scholars about the significance of 'race' and ethnicity in the genetics era. I characterize these divergent perspectives as 'pragmatism' and 'naturalism'. Drawing upon ethnographic fieldwork and interviews, I argue that neither position fully accounts for how understandings of 'race' and ethnicity are being transformed with genetic genealogy testing. While there is some acquiescence to genetic thinking about ancestry, and by implication, 'race', among African-American and black British consumers of genetic genealogy testing, test-takers also adjudicate between sources of genealogical information and from these construct meaningful biographical narratives. Consumers engage in highly situated 'objective' and 'affiliative' self-fashioning, interpreting genetic test results in the context of their 'genealogical aspirations'. I conclude that issues of site, scale, and subjectification must be attended to if scholars are to understand whether and to what extent social identities are being transformed by recent developments in genetic science.

  15. Manufacturing and preliminary tests of a 12 T ''wind and react'' coil

    International Nuclear Information System (INIS)

    Corte, A. della; Pasotti, G.; Sacchetti, N.; Spadoni, M.; Oliva, A.B.; Penco, R.; Parodi, S.; Valle, N.; Specking, W.

    1994-01-01

    As already reported ENEA is engaged in the realization of a 12 T wind and react Nb 3 Sn coil, a subsize magnet designed to simulate many technological problems to be faced in NET-ITER magnets. EM-LMI and Ansaldo are the industrial partners in this project. A preliminary winding has been built and successfully tested. This winding has been cut in pieces and carefully inspected to be sure that the impregnation process after the heat treatment works well. No particular flaws have been detected. Then manufacturing of the 12 T magnet has been started and completed in about three months. Heat treatment, impregnation and electrical tests at 300 K have been successfully performed and the magnet is now ready for final tests. In order to obtain the most significant scientific and technological information from this magnet, the original test program (insertion of the coil in the SULTAN facility) has been modified according to a decision of the Fusion Technology Steering Committee (FTSC) of EURATOM. Details of the new test programs are given in the paper

  16. Genetic test utilization and diagnostic yield in adult patients with neurological disorders.

    Science.gov (United States)

    Bardakjian, Tanya M; Helbig, Ingo; Quinn, Colin; Elman, Lauren B; McCluskey, Leo F; Scherer, Steven S; Gonzalez-Alegre, Pedro

    2018-03-28

    To determine the diagnostic yield of different genetic test modalities in adult patients with neurological disorders, we evaluated all adult patients seen for genetic diagnostic evaluation in the outpatient neurology practice at the University of Pennsylvania between January 2016 and April 2017 as part of the newly created Penn Neurogenetics Program. Subjects were identified through our electronic medical system as those evaluated by the Program's single clinical genetic counselor in that period. A total of 377 patients were evaluated by the Penn Neurogenetics Program in different settings and genetic testing recommended. Of those, 182 (48%) were seen in subspecialty clinic setting and 195 (52%) in a General Neurogenetics Clinic. Genetic testing was completed in over 80% of patients in whom it was recommended. The diagnostic yield was 32% across disease groups. Stratified by testing modality, the yield was highest with directed testing (50%) and array comparative genomic hybridization (45%), followed by gene panels and exome testing (25% each). In conclusion, genetic testing can be successfully requested in clinic in a large majority of adult patients. Age is not a limiting factor for a genetic diagnostic evaluation and the yield of clinical testing across phenotypes (almost 30%) is consistent with previous phenotype-focused or research-based studies. These results should inform the development of specific guidelines for clinical testing and serve as evidence to improve reimbursement by insurance payers.

  17. Genetic Testing for Respiratory Disease: Are We There Yet?

    Directory of Open Access Journals (Sweden)

    Peter D Paré

    2012-01-01

    Full Text Available The human genome project promised a revolution in health care – the development of ‘personalized medicine’, where knowledge of an individual’s genetic code enables the prediction of risk for specific diseases and the potential to alter that risk based on preventive measures and lifestyle modification. The present brief review provides a report card on the progress toward that goal with respect to respiratory disease. Should generalized population screening for genetic risk factors for respiratory disease be instituted? Or not?

  18. Welding of metallic fuel elements for the irradiation test in JOYO. Preliminary tests and welding execution tests (Joint research)

    International Nuclear Information System (INIS)

    Kikuchi, Hironobu; Nakamura, Kinya; Iwai, Takashi; Arai, Yasuo

    2009-10-01

    Irradiation tests of metallic fuels elements in fast test reactor JOYO are planned under the joint research of Japan Atomic Energy Agency (JAEA) and Central Research Institute of Electric Power Industry (CRIEPI). Six U-Pu-Zr fuel elements clad with ferritic martensitic steel are fabricated in Plutonium Fuel Research Facility (PFRF) of JAEA-Oarai for the first time in Japan. In PFRF, the procedures of fabrication of the fuel elements were determined and the test runs of the equipments were carried out before the welding execution tests for the fuel elements. Test samples for confirming the welding condition between the cladding tube and top and bottom endplugs were prepared, and various test runs were carried out before the welding execution tests. As a result, the welding conditions were finalized by passing the welding execution tests. (author)

  19. Direct-to-Consumer Genetic Testing: Helping Patients Make Informed Choices
.

    Science.gov (United States)

    Mahon, Suzanne M

    2018-02-01

    Using direct-to-consumer genetic testing (DTCGT), individuals can order a genetic test, collect and submit a saliva sample, and obtain results about their genetic risk for a variety of traits and health conditions without involving a healthcare provider. Potential benefits of DTCGT include personal control over genetic information and health management decisions, whereas potential risks include misinterpretation of results, psychosocial distress, and lack of informed consent. Oncology nurses can provide education, support, and advocacy to enable patients to truly understand the positives and negatives associated with DTCGT.
.

  20. Direct-to-consumer genetic testing: perceptions, problems, and policy responses.

    Science.gov (United States)

    Caulfield, Timothy; McGuire, Amy L

    2012-01-01

    Direct-to-consumer (DTC) genetic testing has attracted a great amount of attention from policy makers, the scientific community, professional groups, and the media. Although it is unclear what the public demand is for these services, there does appear to be public interest in personal genetic risk information. As a result, many commentators have raised a variety of social, ethical, and regulatory issues associated with this emerging industry, including privacy issues, ensuring that DTC companies provide accurate information about the risks and limitations of their services, the possible adverse impact of DTC genetic testing on healthcare systems, and concern about how individuals may interpret and react to genetic risk information.

  1. Preliminary study fo the interference of proteic compounds of radiopharmaceuticals in the test of lisadode amebocitos de limulus (LAL)

    International Nuclear Information System (INIS)

    Aldana, Claudia

    1997-01-01

    In this thesis the objective was evaluate the interference of proteic compounds of the radiopharmaceuticals in the test LAL (lisado of amebocitos de limulus) for this, macroagregates of albumina (MAA) was used with metilendifosfonato (MDP) as control that is the radiopharmaceutical more used in the nuclear medicine centers of the country. Initially preliminary test were carried out to assess if some of two radiopharmaceuticals would cause interference with LAL test, after the test was validated and finally routine tests were made. With the preliminary assays was concluded that proteic compounds did not cause interference (albumina with a concentration of 2 md/dl) with the MAA. However with the MDP cause interference with LAL test. The interference was eliminated with a dilution of 1:8 of the sample. Was concluded that the success of LAL test depends on conditions such as temperature, pH, constant incubation (no minimum variations) and that is a good test for quality control of the radiopharmaceuticals

  2. The large-scale vented combustion test facility at AECL-WL: description and preliminary test results

    International Nuclear Information System (INIS)

    Loesel Sitar, J.; Koroll, G.W.; Dewit, W.A.; Bowles, E.M.; Harding, J.; Sabanski, C.L.; Kumar, R.K.

    1997-01-01

    Implementation of hydrogen mitigation systems in nuclear reactor containments requires testing the effectiveness of the mitigation system, reliability and availability of the hardware, potential consequences of its use and the technical basis for hardware placement, on a meaningful scale. Similarly, the development and validation of containment codes used in nuclear reactor safety analysis require detailed combustion data from medium- and large-scale facilities. A Large-Scale Combustion Test Facility measuring 10 m x 4 m x 3 m (volume, 120 m 3 ) has been constructed and commissioned at Whiteshell Laboratories to perform a wide variety of combustion experiments. The facility is designed to be versatile so that many geometrical configurations can be achieved. The facility incorporates extensive capabilities for instrumentation and high speed data acquisition, on-line gas sampling and analysis. Other features of the facility include operation at elevated temperatures up to 150 degrees C, easy access to the interior, and remote operation. Initial thermodynamic conditions in the facility can be controlled to within 0.1 vol% of constituent gases. The first series of experiments examined vented combustion in the full 120 m 3 -volume configuration with vent areas in the range of 0.56 to 2.24 m 2 . The experiments were performed at ∼27 degrees C and near-atmospheric pressures, with hydrogen concentrations in the range of 8 to 12% by volume. This paper describes the Large-Scale Vented Combustion Test Facility and preliminary results from the first series of experiments. (author)

  3. Diagnostic, carrier and prenatal genetic testing for fragile X ...

    African Journals Online (AJOL)

    Background. Fragile X syndrome (FXS), the most common inherited cause of intellectual disability (ID) worldwide, is caused by the expansion of a CGG repeat in the fragile X mental retardation gene (FMR-1) gene. Objectives. To review, retrospectively, the genetic services for FXS and other FMR-1-related disorders ...

  4. Chronic disease risk management: Combining genetic testing with ...

    African Journals Online (AJOL)

    Nutrigenetics has been used for decades to prevent rare monogenic disorders such as phenylketonuria. Gene-diet interaction can now also be targeted to prevent or reduce the risk of many chronic conditions long before clinical manifestation. This multidisciplinary approach unites conventional medicine with genetics and ...

  5. American chestnut: A test case for genetic engineering?

    Science.gov (United States)

    Leila Pinchot

    2014-01-01

    The thought of genetically engineered (GE) trees might conjure images of mutant trees with unnatural and invasive tendencies, but there is much more to the story. GE trees are a new reality that, like it or not, will probably be part of the future of forestry. The basic inclination of most Forest Guild stewards is to reject GE trees as violating our principle to...

  6. Predictive genetic testing for cardiovascular diseases: Impact on carrier children

    NARCIS (Netherlands)

    Meulenkamp, Tineke M.; Tibben, Aad; Mollema, Eline D.; Van Langen, Irene M.; Wiegman, Albert; De Wert, Guido M.; De Beaufort, Inez D.; Wilde, Arthur A. M.; Smets, Ellen M. A.

    2008-01-01

    We studied the experiences of children identified by family screening who were found to be a mutation carrier for a genetic cardiovascular disease (Long QT Syndrome (LQTS), Hypertrophic Cardiomyopathy (HCM), Familial Hypercholesterolemia (FH)). We addressed the (a) manner in which they perceive

  7. Field testing genetically modified organisms: framework for decisions

    National Research Council Canada - National Science Library

    National Research Council Staff

    1989-01-01

    ... on Scientific Evaluation of the Introduction of Genetically Modified Microoganisms and Plants into the Environment Board on Biology Commission on Life Sciences National Research Council NATIONAL ACADEMY PRESS Washington, D.C. 1989 i Copyrightthe cannot be not from book, paper however, version for formatting, original authoritative the typesetting-s...

  8. Modeling and preliminary thermal analysis of the capsule for a creep test in HANARO

    International Nuclear Information System (INIS)

    Choi, Myoung Hwan; Cho, Man Soon; Choo, Kee Nam; Kang, Young Hwan; Sohn, Jae Min; Shin, Yoon Taeg; Park, Sung Jae; Kim, Bong Goo; Kim, Young Jin

    2005-01-01

    A creep capsule is a device to investigate the creep characteristics of nuclear materials during inpile irradiation tests. To obtain the design data of the capsule through a preliminary thermal analysis, a 2-dimensional model for the cross section of the capsule including the specimens and components is generated, and an analysis using the ANSYS program is performed. The gamma-heating rates of the materials for the HANARO power of 30MW are considered, and the effect of the gap size and the control rod position on the temperature of the specimen is discussed. From the analysis it is found that the gap between the thermal media and the external tube has a significant effect on the temperature of the specimen. The temperature by increasing the position of the control rod is decreased

  9. Preliminary safety evaluation (PSE) for Sodium Storage Facility at the Fast Flux Test Facility

    International Nuclear Information System (INIS)

    Bowman, B.R.

    1994-01-01

    This evaluation was performed for the Sodium Storage Facility (SSF) which will be constructed at the Fast Flux Test Facility (FFTF) in the area adjacent to the South and West Dump Heat Exchanger (DHX) pits. The purpose of the facility is to allow unloading the sodium from the FFTF plant tanks and piping. The significant conclusion of this Preliminary Safety Evaluation (PSE) is that the only Safety Class 2 components are the four sodium storage tanks and their foundations. The building, because of its imminent risk to the tanks under an earthquake or high winds, will be Safety Class 3/2, which means the building has a Safety Class 3 function with the Safety Class 2 loads of seismic and wind factored into the design

  10. The preliminary tests of the superconducting electron cyclotron resonance ion source DECRIS-SC2.

    Science.gov (United States)

    Efremov, A; Bekhterev, V; Bogomolov, S; Drobin, V; Loginov, V; Lebedev, A; Yazvitsky, N; Yakovlev, B

    2012-02-01

    A new compact version of the "liquid He-free" superconducting ECR ion source, to be used as an injector of highly charged heavy ions for the MC-400 cyclotron, is designed and built at the Flerov Laboratory of Nuclear Reactions in collaboration with the Laboratory of High Energy Physics of JINR. The axial magnetic field of the source is created by the superconducting magnet and the NdFeB hexapole is used for the radial plasma confinement. The microwave frequency of 14 GHz is used for ECR plasma heating. During the first tests, the source shows a good enough performance for the production of medium charge state ions. In this paper, we will present the design parameters and the preliminary results with gaseous ions.

  11. Preliminary piping layout and integration of European test blanket modules subsystems in ITER CVCS area

    Energy Technology Data Exchange (ETDEWEB)

    Tarallo, Andrea, E-mail: andrea.tarallo@unina.it [CREATE, University of Naples Federico II, DII, P.le Tecchio, 80, 80125 Naples (Italy); Mozzillo, Rocco; Di Gironimo, Giuseppe [CREATE, University of Naples Federico II, DII, P.le Tecchio, 80, 80125 Naples (Italy); Aiello, Antonio; Utili, Marco [ENEA UTIS, C.R. Brasimone, Bacino del Brasimone, I-40032 Camugnano, BO (Italy); Ricapito, Italo [TBM& MD Project, Fusion for Energy, EU Commission, Carrer J. Pla, 2, Building B3, 08019 Barcelona (Spain)

    2015-04-15

    Highlights: • The use of human modeling tools for piping design in view of maintenance is discussed. • A possible preliminary layout for TBM subsystems in CVCS area has been designed with CATIA. • A DHM-based method to quickly check for maintainability of piping systems is suggested. - Abstract: This paper explores a possible integration of some ancillary systems of helium-cooled lithium lead (HCLL) and helium-cooled pebble-bed (HCPB) test blanket modules in ITER CVCS area. Computer-aided design and ergonomics simulation tools have been fundamental not only to define suitable routes for pipes, but also to quickly check for maintainability of equipment and in-line components. In particular, accessibility of equipment and systems has been investigated from the very first stages of the design using digital human models. In some cases, the digital simulations have resulted in changes in the initial space reservations.

  12. Mercury exposure on potential plant Ludwigia octovalvis L. - Preliminary toxicological testing

    Science.gov (United States)

    Alrawiq, Huda S. M.; Mushrifah, I.

    2013-11-01

    The preliminary test in phytoremediation is necessaryto determine the ability of plant to survive in media with different concentrations of contaminant. It was conducted to determine the maximum concentration of the contaminant that isharmful to the plant and suppress the plant growth. This study showed the ability of Ludwigia octovalvisto resist mercury (Hg) contaminant in sand containing different concentrations of Hg (0, 0.5, 1, 2, 4, 6 and 8 mg/L). The experimental work wasperformed under greenhouse conditions for an observation period of 4 weeks. Throughout the 4 weeks duration, the resultsshowed that 66.66% of the plants withered for on exposure to Hg concentration of 4 mg/L and 100% withered at higher concentrations of 6 and 8 mg/L. The results of this study may serve as a basis for research that aims to study uptake and accumulation of Hg using potential phytoremediation plants.

  13. Preliminary code development for seismic signal analysis related to test ban treaty questions

    International Nuclear Information System (INIS)

    Brolley, J.E.

    1977-01-01

    Forensic seismology, from a present day viewpoint, appears to be divided into several areas. Overwhelmingly important, in view of current Complete Test Ban (CTB) discussions, is the seismological study of waves generated in the earth by underground nuclear explosions. Over the last two decades intensive effort has been devoted to developing improved observational apparatus and to the interpretation of the data produced by this equipment. It is clearly desirable to extract the maximum amount of information from seismic signals. It is, therefore, necessary to quantitatively compare various modes of analysis to establish which mode or combination of modes provides the most useful information. Preliminary code development for application of some modern developments in signal processing to seismic signals is described. Applications of noncircular functions are considered and compared with circular function results. The second portion of the discussion concerns maximum entropy analysis. Lastly, the multivariate aspects of the general problem are considered

  14. Expertise for Teaching Biology Situated in the Context of Genetic Testing

    Science.gov (United States)

    Van der Zande, Paul; Akkerman, Sanne F.; Brekelmans, Mieke; Waarlo, Arend Jan; Vermunt, Jan D.

    2012-07-01

    Contemporary genomics research will impact the daily practice of biology teachers who want to teach up-to-date genetics in secondary education. This article reports on a research project aimed at enhancing biology teachers' expertise for teaching genetics situated in the context of genetic testing. The increasing body of scientific knowledge concerning genetic testing and the related consequences for decision-making indicate the societal relevance of an educational approach based on situated learning. What expertise do biology teachers need for teaching genetics in the personal health context of genetic testing? This article describes the required expertise by exploring the educational practice. Nine experienced teachers were interviewed about the pedagogical content, moral and interpersonal expertise areas concerning how to teach genetics in the personal health context of genetic testing, and the lessons of five of them were observed. The findings showed that the required teacher expertise encompasses specific pedagogical content expertise, interpersonal expertise and a preference for teacher roles and teaching approaches for the moral aspects of teaching in this context. A need for further development of teaching and learning activities for (reflection on) moral reasoning came to the fore. Suggestions regarding how to apply this expertise into context-based genetics education are discussed.

  15. A Preliminary Analysis for SMART-ITL SBLOCA Tests using the MARS/KS Code

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Yeon Sik; Ko, Yung Joo; Suh, Jae Seung [System Engineering and Technology Co., Ltd., Daejeon (Korea, Republic of)

    2013-10-15

    In this paper, a preliminary analysis was conducted for SMART-ITL SBLOCA tests using the MARS/KS Code. The results of this work are expected to be good guidelines for SBLOCA tests with the SMART-ITL, and used to understand the various thermal-hydraulic phenomena expected to occur in the integral-type reactor, SMART. An integral-effect test (IET) loop for SMART, SMART-ITL (or FESTA), has been designed using a volume scaling methodology. It was installed at KAERI and its commissioning tests were finished in 2012. Its height was preserved and its area and volume were scaled down to 1/49 compared with the prototype plant, SMART. The SMART-ITL consists of a primary system including a reactor pressure vessel with a pressurizer, four steam generators and four main coolant pumps, a secondary system, a safety system, and an auxiliary system. The objectives of IET using the SMART-ITL facility are to investigate the integral performance of the inter-connected components and possible thermal-hydraulic phenomena occurring in the SMART design, and to validate its safety for various design basis events (DBAs)

  16. Site study plan for Deep Hydronest Test Wells, Deaf Smith County Site, Texas: Preliminary draft

    International Nuclear Information System (INIS)

    1987-05-01

    Wells called Deep Hydronest Wells will be installed at six locations at the Deaf Smith County Site to characterize hydraulic parameters in the geologic column between the top of the San Andres Formation and the base of Pennsylvanian System. Three hydronests will be drilled during early stages of site characterization to provide data for performance assessment modeling. Four wells are proposed for each of these 3 nests. Results of drilling, testing, and preliminary modeling will direct drilling and testing activities at the last 3 nests. Two wells are proposed at each of the last 3 nests for a total of 18 wells. The Salt Repository Project (SRP) Networks specify the schedule under which this program will operate. Drilling and hydrologic testing of the first Deep Hydronest will begin early in the Surface Investigation Program. Drilling and testing of the first three Deep Hydronests will require about 18 months. After 12 months of evaluating and analyzing data from the first three hydronests, the remaining three hydronests will be drilled during a 12-month period. The Technical Field Services Contractor is responsible for conducting the field program. Samples and data will be handled and reported in accordance with established SRP procedures. A quality assurance program will be used to assure that activities affecting quality are performed correctly and that the appropriate documentation is maintained. 36 refs., 20 figs., 6 tabs

  17. A Preliminary Analysis for SMART-ITL SBLOCA Tests using the MARS/KS Code

    International Nuclear Information System (INIS)

    Cho, Yeon Sik; Ko, Yung Joo; Suh, Jae Seung

    2013-01-01

    In this paper, a preliminary analysis was conducted for SMART-ITL SBLOCA tests using the MARS/KS Code. The results of this work are expected to be good guidelines for SBLOCA tests with the SMART-ITL, and used to understand the various thermal-hydraulic phenomena expected to occur in the integral-type reactor, SMART. An integral-effect test (IET) loop for SMART, SMART-ITL (or FESTA), has been designed using a volume scaling methodology. It was installed at KAERI and its commissioning tests were finished in 2012. Its height was preserved and its area and volume were scaled down to 1/49 compared with the prototype plant, SMART. The SMART-ITL consists of a primary system including a reactor pressure vessel with a pressurizer, four steam generators and four main coolant pumps, a secondary system, a safety system, and an auxiliary system. The objectives of IET using the SMART-ITL facility are to investigate the integral performance of the inter-connected components and possible thermal-hydraulic phenomena occurring in the SMART design, and to validate its safety for various design basis events (DBAs)

  18. [Analysis of 14 individuals who requested predictive genetic testing for hereditary neuromuscular diseases].

    Science.gov (United States)

    Yoshida, Kunihiro; Tamai, Mariko; Kubota, Takeo; Kawame, Hiroshi; Amano, Naoji; Ikeda, Shu-ichi; Fukushima, Yoshimitsu

    2002-02-01

    Predictive genetic testing for hereditary neuromuscular diseases is a delicate issue for individuals at risk and their families, as well as for medical staff because these diseases are often late-onset and intractable. Therefore careful pre- and post-test genetic counseling and psychosocial support should be provided along with such genetic testing. The Division of Clinical and Molecular Genetics was established at our hospital in May 1996 to provide skilled professional genetic counseling. Since its establishment, 14 individuals have visited our clinic to request predictive genetic testing for hereditary neuromuscular diseases (4 for myotonic dystrophy, 6 for spinocerebellar ataxia, 3 for Huntington's disease, and 1 for Alzheimer's disease). The main reasons for considering testing were to remove uncertainty about the genetic status and to plan for the future. Nine of 14 individuals requested testing for making decisions about a forthcoming marriage or pregnancy (family planning). Other reasons raised by the individuals included career or financial planning, planning for their own health care, and knowing the risk for their children. At the first genetic counseling session, all of the individuals expressed hopes of not being a gene carrier and of escaping from fear of disease, and seemed not to be mentally well prepared for an increased-risk result. To date, 7 of the 14 individuals have received genetic testing and only one, who underwent predictive genetic testing for spinocerebellar ataxia, was given an increased-risk result. The seven individuals including the one with an increased-risk result, have coped well with their new knowledge about their genetic status after the testing results were disclosed. None of them has expressed regret. In pre-test genetic counseling sessions, we consider it quite important not only to determine the psychological status of the individual, but also to make the individual try to anticipate the changes in his/her life upon

  19. A preliminary qualitative exploration of dietitians' engagement with genetics and nutritional genomics: perspectives from international leaders.

    Science.gov (United States)

    Li, Sherly X; Collins, Jorja; Lawson, Stephanie; Thomas, Jane; Truby, Helen; Whelan, Kevin; Palermo, Claire

    2014-01-01

    This qualitative study explored the underlying determinants of dietitians' current practice and attitudes about nutritional genomics. Sixteen semi-structured interviews were conducted with international leaders selected across each domain of dietetics practice from Australia (n=8) and the United Kingdom (n=8). Interviews explored knowledge, involvement, perceived role, and attitudes about the benefits and barriers of genetics and nutritional genomics. Interviews were transcribed and analysed using thematic analysis. Five key themes were identified: (i) acknowledgment that there are wide applications for nutritional genomics; (ii) a general lack of awareness of nutritional genomics that underlies a knowledge, skills, and confidence gap; (iii) dietitians are patient-orientated and thus are receptive to the public's needs; (iv) the legitimacy of commercialised nutritional genomics products and services; and (v) prioritisation of nutritional genomics amongst other practice-related commitments as well as the influence of the workplace setting. In order for healthcare services to prepare for the application of nutritional genomics, these social, political, attitudinal, and awareness issues amongst dietitians need to be addressed. Further education in nutritional genomics may help to build awareness, continued research is crucial in determining utility, whilst establishing a healthcare system that supports and rewards this approach may cultivate its adoption.

  20. Sharing privacy-sensitive access to neuroimaging and genetics data: a review and preliminary validation.

    Science.gov (United States)

    Sarwate, Anand D; Plis, Sergey M; Turner, Jessica A; Arbabshirani, Mohammad R; Calhoun, Vince D

    2014-01-01

    The growth of data sharing initiatives for neuroimaging and genomics represents an exciting opportunity to confront the "small N" problem that plagues contemporary neuroimaging studies while further understanding the role genetic markers play in the function of the brain. When it is possible, open data sharing provides the most benefits. However, some data cannot be shared at all due to privacy concerns and/or risk of re-identification. Sharing other data sets is hampered by the proliferation of complex data use agreements (DUAs) which preclude truly automated data mining. These DUAs arise because of concerns about the privacy and confidentiality for subjects; though many do permit direct access to data, they often require a cumbersome approval process that can take months. An alternative approach is to only share data derivatives such as statistical summaries-the challenges here are to reformulate computational methods to quantify the privacy risks associated with sharing the results of those computations. For example, a derived map of gray matter is often as identifiable as a fingerprint. Thus alternative approaches to accessing data are needed. This paper reviews the relevant literature on differential privacy, a framework for measuring and tracking privacy loss in these settings, and demonstrates the feasibility of using this framework to calculate statistics on data distributed at many sites while still providing privacy.

  1. Sharing privacy-sensitive access to neuroimaging and genetics data: a review and preliminary validation

    Directory of Open Access Journals (Sweden)

    Anand D. Sarwate

    2014-04-01

    Full Text Available The growth of data sharing initiatives for neuroimaging and genomics represents an exciting opportunity to confront the ``small $N$'' problem that plagues contemporary neuroimaging studies while further understanding the role genetic markers play in in the function of the brain. When it is possible, open data sharing provides the most benefits. However some data cannot be shared at all due to privacy concerns and/or risk of re-identification. Sharing other data sets is hampered by the proliferation of complex data use agreements (DUAs which preclude truly automated data mining. These DUAs arise because of concerns about the privacy and confidentiality for subjects; though many do permit direct access to data, they often require a cumbersome approval process that can take months. An alternative approach is to only share data derivatives such as statistical summaries -- the challenges here are to reformulate computational methods to quantify the privacy risks associated with sharing the results of those computations. For example, a derived map of gray matter is often as identifiable as a fingerprint. Thus alternative approaches to accessing data are needed. This paper reviews the relevant literature on differential privacy, a framework for measuring and tracking privacy loss in these settings, and demonstrates the feasibility of using this framework to calculate statistics on data distributed at many sites while still providing privacy.

  2. Sharing privacy-sensitive access to neuroimaging and genetics data: a review and preliminary validation

    Science.gov (United States)

    Sarwate, Anand D.; Plis, Sergey M.; Turner, Jessica A.; Arbabshirani, Mohammad R.; Calhoun, Vince D.

    2014-01-01

    The growth of data sharing initiatives for neuroimaging and genomics represents an exciting opportunity to confront the “small N” problem that plagues contemporary neuroimaging studies while further understanding the role genetic markers play in the function of the brain. When it is possible, open data sharing provides the most benefits. However, some data cannot be shared at all due to privacy concerns and/or risk of re-identification. Sharing other data sets is hampered by the proliferation of complex data use agreements (DUAs) which preclude truly automated data mining. These DUAs arise because of concerns about the privacy and confidentiality for subjects; though many do permit direct access to data, they often require a cumbersome approval process that can take months. An alternative approach is to only share data derivatives such as statistical summaries—the challenges here are to reformulate computational methods to quantify the privacy risks associated with sharing the results of those computations. For example, a derived map of gray matter is often as identifiable as a fingerprint. Thus alternative approaches to accessing data are needed. This paper reviews the relevant literature on differential privacy, a framework for measuring and tracking privacy loss in these settings, and demonstrates the feasibility of using this framework to calculate statistics on data distributed at many sites while still providing privacy. PMID:24778614

  3. 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.

  4. The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency.

    Science.gov (United States)

    Rubinstein, Wendy S; Maglott, Donna R; Lee, Jennifer M; Kattman, Brandi L; Malheiro, Adriana J; Ovetsky, Michael; Hem, Vichet; Gorelenkov, Viatcheslav; Song, Guangfeng; Wallin, Craig; Husain, Nora; Chitipiralla, Shanmuga; Katz, Kenneth S; Hoffman, Douglas; Jang, Wonhee; Johnson, Mark; Karmanov, Fedor; Ukrainchik, Alexander; Denisenko, Mikhail; Fomous, Cathy; Hudson, Kathy; Ostell, James M

    2013-01-01

    The National Institutes of Health Genetic Testing Registry (GTR; available online at http://www.ncbi.nlm.nih.gov/gtr/) maintains comprehensive information about testing offered worldwide for disorders with a genetic basis. Information is voluntarily submitted by test providers. The database provides details of each test (e.g. its purpose, target populations, methods, what it measures, analytical validity, clinical validity, clinical utility, ordering information) and laboratory (e.g. location, contact information, certifications and licenses). Each test is assigned a stable identifier of the format GTR000000000, which is versioned when the submitter updates information. Data submitted by test providers are integrated with basic information maintained in National Center for Biotechnology Information's databases and presented on the web and through FTP (ftp.ncbi.nih.gov/pub/GTR/_README.html).

  5. An investigation of the genetic toxicology of irradiated foodstuffs using short-term test systems

    International Nuclear Information System (INIS)

    Phillips, B.J.; Kranz, E.; Elias, P.S.

    1980-01-01

    As part of a programme of short-term tests used to detect possible genetic toxicity in irradiated foodstuffs, cultured Chinese hamster ovary cells were exposed to extracts and digests of irradiated and unirradiated dates, fish and chicken and subjected to tests for cytotoxicity, sister chromatid exchange induction and mutation to thioguanine resistance. The results showed no evidence of genetic toxicity induced in food by irradiation. The general applicability of cell culture tests to the detection of mutagens in food is discussed. (author)

  6. Stress-induced and cue-induced craving for alcohol in heavy drinkers: Preliminary evidence of genetic moderation by the OPRM1 and CRH-BP genes.

    Science.gov (United States)

    Ray, Lara A

    2011-01-01

    Neurobiological theories of addiction have highlighted disruption in stress pathways as a central feature of addictive disorders, and pharmacological treatments targeting stress mechanisms hold great promise. This study examines genetic determinants of stress-induced and cue-induced craving in heavy drinkers by testing single-nucleotide polymorphisms (SNPs) of the corticotrophin-releasing hormone binding protein (CRH-BP) gene and the mu-opioid receptor (OPRM1) gene. This study combines guided imagery stress exposure and in vivo alcohol cue exposure in a sample of 64 (23 women) non-treatment-seeking heavy drinkers. Analyses, uncorrected for multiple comparisons, revealed that a tag SNP of the CRH-BP gene (rs10055255) moderated stress-induced craving in this sample. The same SNP predicted greater affective responses to the stress manipulation, including greater levels of subjective tension and negative mood. The Asp40 allele of the OPRM1 was associated with greater cue-induced alcohol craving following the neutral imagery condition. These initial results extend recent preclinical and clinical findings implicating the CRH-BP in stress-related alcoholism and confirm the role of the Asp40 allele of the OPRM1 gene in reward-driven alcohol phenotypes. Human laboratory models of stress and cue-induced craving may be useful in pharmacotherapy development targeting dysregulation of stress systems. Larger studies are needed to validate these preliminary findings, which should also be extended to clinical samples. Copyright © 2010 by the Research Society on Alcoholism.

  7. Genetic horoscopes: is it all in the genes? Points for regulatory control of direct-to-consumer genetic testing.

    Science.gov (United States)

    Patch, Christine; Sequeiros, Jorge; Cornel, Martina C

    2009-07-01

    The development of tests for genetic susceptibility to common complex diseases has raised concerns. These concerns relate to evaluation of the scientific and clinical validity and utility of the tests, quality assurance of laboratories and testing services, advice and protection for the consumer and the appropriate regulatory and policy response. How these concerns are interpreted and addressed is an ongoing debate. If the possibility of using the discoveries from genomic science to improve health is to be realised without losing public confidence, then improvements in the evaluation and mechanisms for control of supply of tests may be as important as the science itself.

  8. 'Battling my biology': psychological effects of genetic testing for risk of weight gain.

    Science.gov (United States)

    Meisel, S F; Wardle, J

    2014-04-01

    The availability of genetic tests for multifactorial conditions such as obesity raises concerns that higher-risk results could lead to fatalistic reactions or lower-risk results to complacency. No study has investigated the effects of genetic test feedback for the risk of obesity in non-clinical samples. The present study explored psychological and behavioral reactions to genetic test feedback for a weight related gene (FTO) in a volunteer sample (n = 18) using semi-structured interviews. Respondents perceived the gene test result as scientifically objective; removing some of the emotion attached to the issue of weight control. Those who were struggling with weight control reported relief of self-blame. There was no evidence for either complacency or fatalism; all respondents emphasized the importance of lifestyle choices in long-term weight management, although they recognized the role of both genes and environment. Regardless of the test result, respondents evaluated the testing positively and found it motivating and informative. Genetic test feedback for risk of weight gain may offer psychological benefits beyond its objectively limited clinical utility. As the role of genetic counselors is likely to expand, awareness of reasons for genetic testing for common, complex conditions and reactions to the test result is important.

  9. The neutral beam test facility cryopumping operation: preliminary analysis and design of the cryogenic system

    International Nuclear Information System (INIS)

    Gravil, B.; Henry, D.; Cordier, J.J.; Hemsworth, R.; Van Houtte, D.

    2004-01-01

    The ITER neutral beam heating and current drive system is to be equipped with a cryosorption cryopump made up of 12 panels connected in parallel, refrigerated by 4.5 K 0.4 MPa supercritical helium. The pump is submitted to a non homogeneous flux of H 2 or D 2 molecules, and the absorbed flux varies from 3 Pa.m -3 .s -1 to 35 Pa.m -3 .s -1 . In the frame of the 'ITER first injector and test facility CSU-EFDA task' (TW3-THHN-IITF1), the ITER reference cryo-system and cryo-plant designs have been assessed and compared to optimised designs devoted to the Neutral Beam Test Facility (NBTF). The 4.5 K cryo-panel, which has a mass of about 1000 kg, must be periodically regenerated up to 90 K and occasionally to 470 K. The cool-down time after regeneration depends strongly on the refrigeration capacity. Fast regeneration and cool-down of the cryo-panels are not considered a priority for the test facility operation, and an analysis of the consequences of a limited cold power refrigerator on the cooling down time has been carried out and will be discussed. This paper presents a preliminary evaluation of the NBTF cryo-plant and the associated process flow diagram. (authors)

  10. In situ vitrification: Preliminary results from the first large-scale radioactive test

    International Nuclear Information System (INIS)

    Buelt, J.L.; Westsik, J.H.

    1988-02-01

    The first large-scale radioactive test (LSRT) of In Situ Vitrification (ISV) has been completed. In Situ Vitrification is a process whereby joule heating immobilizes contaminated soil in place by converting it to a durable glass and crystalline waste form. The LSRT was conducted at an actual transuranic contaminated soil site on the Department of Energy's Hanford Site. The test had two objectives: (1) determine large-scale processing performance and (2) produce a waste form that can be fully evaluated as a potential technique for the final disposal of transuranic-contaminated soil sites at Hanford. This accomplishment has provided technical data to evaluate the ISV process for its potential in the final disposition of transuranic-contaminated soil sites at Hanford. Because of the test's successful completion, within a year technical data on the vitrified soil will be available to determine how well the process incorporates transuranics into the waste form and how well the form resists leaching of transuranics. Preliminary results available include retention of transuranics and other elements within the waste form during processing and the efficiency of the off-gas treatment system in removing contaminants from the gaseous effluents. 13 refs., 10 figs., 5 tabs

  11. Design and preliminary testing of a Bottom-Mounted Second Shutdown Drive Mechanism for the KJRR

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Sanghaun; Lee, Jin Haeng; Yoo, Yeon-Sik, E-mail: yooys@kaeri.re.kr; Cho, Yeong-Garp; Lee, Hyokwang; Sun, Jongoh; Ryu, Jeong Soo

    2016-10-15

    Highlights: • The basic design principle, features and characteristics of the BMSSDM for KJRR are described. • The current development status based on practical fabrications, performance tests, and evaluations is described. • We have verified that all of the BMSSDM components satisfied their design requirements. • All of the performance requirements are satisfied from the performance test results. • The endurance test results show there are no structural failures and the wear of the impact parts in the hydraulic cylinder assembly is negligible. - Abstract: The KiJang Research Reactor (KJRR) is now being designed and undergoing preliminary construction by the Korea Atomic Energy Research Institute (KAERI). The driving parts of the Second Shutdown Drive Mechanism (SSDM) for the KJRR are located in a Reactivity Control Mechanism (RCM) room below the reactor pool bottom. In this paper, the design principle and concept of the Bottom-Mounted SSDM (BMSSDM) for the KJRR are introduced. From the experimental evaluations of the design, fabrication and performance, we verified that all of the BMSSDM components in the current design and development status satisfy their design requirements.

  12. Preliminary Results From a Heavily Instrumented Engine Ice Crystal Icing Test in a Ground Based Altitude Test Facility

    Science.gov (United States)

    Flegel, Ashlie B.; Oliver, Michael J.

    2016-01-01

    Preliminary results from the heavily instrumented ALF502R-5 engine test conducted in the NASA Glenn Research Center Propulsion Systems Laboratory are discussed. The effects of ice crystal icing on a full scale engine is examined and documented. This same model engine, serial number LF01, was used during the inaugural icing test in the Propulsion Systems Laboratory facility. The uncommanded reduction of thrust (rollback) events experienced by this engine in flight were simulated in the facility. Limited instrumentation was used to detect icing on the LF01 engine. Metal temperatures on the exit guide vanes and outer shroud and the load measurement were the only indicators of ice formation. The current study features a similar engine, serial number LF11, which is instrumented to characterize the cloud entering the engine, detect/characterize ice accretion, and visualize the ice accretion in the region of interest. Data were acquired at key LF01 test points and additional points that explored: icing threshold regions, low altitude, high altitude, spinner heat effects, and the influence of varying the facility and engine parameters. For each condition of interest, data were obtained from some selected variations of ice particle median volumetric diameter, total water content, fan speed, and ambient temperature. For several cases the NASA in-house engine icing risk assessment code was used to find conditions that would lead to a rollback event. This study further helped NASA develop necessary icing diagnostic instrumentation, expand the capabilities of the Propulsion Systems Laboratory, and generate a dataset that will be used to develop and validate in-house icing prediction and risk mitigation computational tools. The ice accretion on the outer shroud region was acquired by internal video cameras. The heavily instrumented engine showed good repeatability of icing responses when compared to the key LF01 test points and during day-to-day operation. Other noticeable

  13. Genetic testing for BRCA1: effects of a randomised study of knowledge provision on interest in testing and long term test uptake; implications for the NICE guidelines.

    Science.gov (United States)

    Hall, Julia; Gray, Susan; A'Hern, Roger; Shanley, Susan; Watson, Maggie; Kash, Kathryn; Croyle, Robert; Eeles, Rosalind

    2009-01-01

    Interest in searching for mutations in BRCA1 and BRCA2 is high. Knowledge regarding these genes and the advantages and limitations of genetic testing is limited. It is unknown whether increasing knowledge about breast cancer genetic testing alters interest in testing. Three hundred and seventy nine women (260 with a family history of breast cancer; 119 with breast cancer) from The Royal Marsden NHS Foundation Trust were randomised to receive or not receive written educational information on cancer genetics. A questionnaire was completed assessing interest in BRCA1 testing and knowledge on breast cancer genetics and screening. Actual uptake of BRCA1 testing is reported with a six year follow-up. Eighty nine percent of women at risk of breast cancer and 76% of women with breast cancer were interested in BRCA1 testing (P testing, the families of 66% of the at risk group and 13% of the women with breast cancer would be eligible for testing (probability of BRCA1 mutation >or=20%). Within six years of randomisation, genetic testing was actually undertaken on 12 women, only 10 of whom would now be eligible, on the NICE guidelines. There is strong interest in BRCA1 testing. Despite considerable ignorance of factors affecting the inheritance of breast cancer, education neither reduced nor increased interest to undergo testing. The NICE guidelines successfully triage those with a high breast cancer risk to be managed in cancer genetics clinics.

  14. Critical overview of applications of genetic testing in sport talent identification.

    Science.gov (United States)

    Roth, Stephen M

    2012-12-01

    Talent identification for future sport performance is of paramount interest for many groups given the challenges of finding and costs of training potential elite athletes. Because genetic factors have been implicated in many performance- related traits (strength, endurance, etc.), a natural inclination is to consider the addition of genetic testing to talent identification programs. While the importance of genetic factors to sport performance is generally not disputed, whether genetic testing can positively inform talent identification is less certain. The present paper addresses the science behind the genetic tests that are now commercially available (some under patent protection) and aimed at predicting future sport performance potential. Also discussed are the challenging ethical issues that emerge from the availability of these tests. The potential negative consequences associated with genetic testing of young athletes will very likely outweigh any positive benefit for sport performance prediction at least for the next several years. The paper ends by exploring the future possibilities for genetic testing as the science of genomics in sport matures over the coming decade(s).

  15. Results of the Preliminary Test in the 1/4-Scale RCCS of the PMR200 VHTR

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jong-Hwan; Bae, Yoon-Yeong; Hong, Sung-Deok; Kim, Chan-Soo; Cho, Bong-Hyun; Kim, Min-Hwan [Nuclear Hydrogen Reactor Technology Development Dep., Korea Atomic Energy Research Institute, Daejeon (Korea, Republic of)

    2014-10-15

    The Reactor Cavity Cooling System (RCCS) is a key ex-vessel passive safety system that will ensure the safety of the PMR200, and its performance needs to be verified. For the difficulty of the full-scale test, a 1/4-scale RCCS facility, NACEF (Natural Cooling Experimental Facility), has been constructed at KAERI, and a shakedown test has been performed. A brief design and the preliminary test results of this facility are described. A 1/4-scale RCCS mockup of PMR200, NACEF, was constructed and tested preliminarily. The functioning of the facility worked quite well. Moreover, the preliminary test results show a fairly good agreement with past work except for the conductive heat transfer region in the riser bottom. After a remedy such as the installation of more precise flow meters and a more improved insulation, the test facility is likely to work well.

  16. Personal Narratives of Genetic Testing: Expectations, Emotions, and Impact on Self and Family.

    Science.gov (United States)

    Anderson, Emily E; Wasson, Katherine

    2015-01-01

    The stories in this volume shed light on the potential of narrative inquiry to fill gaps in knowledge, particularly given the mixed results of quantitative research on patient views of and experiences with genetic and genomic testing. Published studies investigate predictors of testing (particularly risk perceptions and worry); psychological and behavioral responses to testing; and potential impact on the health care system (e.g., when patients bring DTC genetic test results to their primary care provider). Interestingly, these themes did not dominate the narratives published in this issue. Rather, these narratives included consistent themes of expectations and looking for answers; complex emotions; areas of contradiction and conflict; and family impact. More narrative research on patient experiences with genetic testing may fill gaps in knowledge regarding how patients define the benefits of testing, changes in psychological and emotional reactions to test results over time, and the impact of testing on families.

  17. Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.

    NARCIS (Netherlands)

    Koenekoop, R.K.; Lopez, I.; Hollander, A.I. den; Allikmets, R.; Cremers, F.P.M.

    2007-01-01

    Human retinal dystrophies have unparalleled genetic and clinical diversity and are currently linked to more than 185 genetic loci. Genotyping is a crucial exercise, as human gene-specific clinical trials to study photoreceptor rescue are on their way. Testing confirms the diagnosis at the molecular

  18. Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome

    NARCIS (Netherlands)

    Lahrouchi, Najim; Raju, Hariharan; Lodder, Elisabeth M.; Papatheodorou, Efstathios; Ware, James S.; Papadakis, Michael; Tadros, Rafik; Cole, Della; Skinner, Jonathan R.; Crawford, Jackie; Love, Donald R.; Pua, Chee J.; Soh, Bee Y.; Bhalshankar, Jaydutt D.; Govind, Risha; Tfelt-Hansen, Jacob; Winkel, Bo G.; van der Werf, Christian; Wijeyeratne, Yanushi D.; Mellor, Greg; Till, Jan; Cohen, Marta C.; Tome-Esteban, Maria; Sharma, Sanjay; Wilde, Arthur A. M.; Cook, Stuart A.; Bezzina, Connie R.; Sheppard, Mary N.; Behr, Elijah R.

    2017-01-01

    Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology. This study investigated the clinical utility and combined yield of post-mortem genetic testing (molecular autopsy) in cases of SADS and

  19. Learners in dialogue. Teacher experise and learning in the context of genetic testing

    NARCIS (Netherlands)

    van der Zande, P.A.M.|info:eu-repo/dai/nl/304827363

    2011-01-01

    Learners in Dialogue; this thesis aims at the exploration of teacher expertise for teachers who want to teach genetics in the context of genetic testing and at finding ways to foster teacher learning concerning this expertise. Recent developments in the field of genomics will impact the daily

  20. Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome

    DEFF Research Database (Denmark)

    Lahrouchi, Najim; Raju, Hariharan; Lodder, Elisabeth M

    2017-01-01

    BACKGROUND: Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology. OBJECTIVES: This study investigated the clinical utility and combined yield of post-mortem genetic testing (molecular autopsy...

  1. Utilization of genetic testing among children with developmental disabilities in the United States

    Directory of Open Access Journals (Sweden)

    Kiely B

    2016-07-01

    Full Text Available Bridget Kiely, Sujit Vettam, Andrew Adesman Division of Developmental and Behavioral Pediatrics, Department of Pediatrics, Steven and Alexandra Cohen Children’s Medical Center of New York, New Hyde Park, NY, USA Purpose: Several professional societies recommend that genetic testing be routinely included in the etiologic workup of children with developmental disabilities. The aim of this study was to determine the rate at which genetic testing is performed in this population, based on data from a nationally representative survey.Methods: Data were analyzed from the Survey of Pathways to Diagnosis and Services, a telephone-based survey of parents and guardians of US school-age children with current or past developmental conditions. This study included 3,371 respondents who indicated that their child had an autism spectrum disorder (ASD, intellectual disability (ID, and/or developmental delay (DD at the time of survey administration. History of genetic testing was assessed based on report by the parent/s. Children were divided into the following five mutually exclusive condition groups: ASD with ID; ASD with DD, without ID; ASD only, without ID or DD; ID without ASD; and DD only, without ID or ASD. Logistic regression was used to assess the demographic correlates of genetic testing, to compare the rates of genetic testing across groups, and to examine associations between genetic testing and use of other health-care services.Results: Overall, 32% of this sample had a history of genetic testing, including 34% of all children with ASD and 43% of those with ID. After adjusting for demographics, children with ASD + ID were more than seven times as likely as those with ASD only, and more than twice as likely as those who had ID without ASD, to have undergone genetic testing. Prior specialist care (developmental pediatrician or neurologist and access to all needed providers within the previous year were associated with higher odds of genetic testing

  2. EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease.

    Science.gov (United States)

    Losekoot, Monique; van Belzen, Martine J; Seneca, Sara; Bauer, Peter; Stenhouse, Susan A R; Barton, David E

    2013-05-01

    Huntington disease (HD) is caused by the expansion of an unstable polymorphic trinucleotide (CAG)n repeat in exon 1 of the HTT gene, which translates into an extended polyglutamine tract in the protein. Laboratory diagnosis of HD involves estimation of the number of CAG repeats. Molecular genetic testing for HD is offered in a wide range of laboratories both within and outside the European community. In order to measure the quality and raise the standard of molecular genetic testing in these laboratories, the European Molecular Genetics Quality Network has organized a yearly external quality assessment (EQA) scheme for molecular genetic testing of HD for over 10 years. EQA compares a laboratory's output with a fixed standard both for genotyping and reporting of the results to the referring physicians. In general, the standard of genotyping is very high but the clarity of interpretation and reporting of the test result varies more widely. This emphasizes the need for best practice guidelines for this disorder. We have therefore developed these best practice guidelines for genetic testing for HD to assist in testing and reporting of results. The analytical methods and the potential pitfalls of molecular genetic testing are highlighted and the implications of the different test outcomes for the consultand and his or her family members are discussed.

  3. Understanding of and attitudes to genetic testing for inherited retinal disease: a patient perspective.

    Science.gov (United States)

    Willis, T A; Potrata, B; Ahmed, M; Hewison, J; Gale, R; Downey, L; McKibbin, M

    2013-09-01

    The views of people with inherited retinal disease are important to help develop health policy and plan services. This study aimed to record levels of understanding of and attitudes to genetic testing for inherited retinal disease, and views on the availability of testing. Telephone questionnaires comprising quantitative and qualitative items were completed with adults with inherited retinal disease. Participants were recruited via postal invitation (response rate 48%), approach at clinic or newsletters of relevant charitable organisations. Questionnaires were completed with 200 participants. Responses indicated that participants' perceived understanding of genetic testing for inherited retinal disease was variable. The majority (90%) considered testing to be good/very good and would be likely to undergo genetic testing (90%) if offered. Most supported the provision of diagnostic (97%) and predictive (92%) testing, but support was less strong for testing as part of reproductive planning. Most (87%) agreed with the statement that testing should be offered only after the individual has received genetic counselling from a professional. Subgroup analyses revealed differences associated with participant age, gender, education level and ethnicity (p<0.02). Participants reported a range of perceived benefits (eg, family planning, access to treatment) and risks (eg, impact upon family relationships, emotional consequences). Adults with inherited retinal disease strongly support the provision of publicly funded genetic testing. Support was stronger for diagnostic and predictive testing than for testing as part of reproductive planning.

  4. Integrating social science and behavioral genetics: testing the origin of socioeconomic disparities in depression using a genetically informed design.

    Science.gov (United States)

    Mezuk, Briana; Myers, John M; Kendler, Kenneth S

    2013-10-01

    We tested 3 hypotheses-social causation, social drift, and common cause-regarding the origin of socioeconomic disparities in major depression and determined whether the relationship between socioeconomic status (SES) and major depression varied by genetic liability for major depression. Data were from a sample of female twins in the baseline Virginia Adult Twin Study of Psychiatric and Substance Use Disorders interviewed between 1987 and 1989 (n = 2153). We used logistic regression and structural equation twin models to evaluate these 3 hypotheses. Consistent with the social causation hypothesis, education (odds ratio [OR] = 0.78; 95% confidence interval [CI] = 0.66, 0.93; P social mobility was associated with lower risk of depression. There was no evidence that childhood SES was related to development of major depression (OR = 0.98; 95% CI = 0.89, 1.09; P > .1). Consistent with a common genetic cause, there was a negative correlation between the genetic components of major depression and education (r(2) = -0.22). Co-twin control analyses indicated a protective effect of education and income on major depression even after accounting for genetic liability. This study utilized a genetically informed design to address how social position relates to major depression. Results generally supported the social causation model.

  5. Covariance Association Test (CVAT) Identifies Genetic Markers Associated with Schizophrenia in Functionally Associated Biological Processes.

    Science.gov (United States)

    Rohde, Palle Duun; Demontis, Ditte; Cuyabano, Beatriz Castro Dias; Børglum, Anders D; Sørensen, Peter

    2016-08-01

    Schizophrenia is a psychiatric disorder with large personal and social costs, and understanding the genetic etiology is important. Such knowledge can be obtained by testing the association between a disease phenotype and individual genetic markers; however, such single-marker methods have limited power to detect genetic markers with small effects. Instead, aggregating genetic markers based on biological information might increase the power to identify sets of genetic markers of etiological significance. Several set test methods have been proposed: Here we propose a new set test derived from genomic best linear unbiased prediction (GBLUP), the covariance association test (CVAT). We compared the performance of CVAT to other commonly used set tests. The comparison was conducted using a simulated study population having the same genetic parameters as for schizophrenia. We found that CVAT was among the top performers. When extending CVAT to utilize a mixture of SNP effects, we found an increase in power to detect the causal sets. Applying the methods to a Danish schizophrenia case-control data set, we found genomic evidence for association of schizophrenia with vitamin A metabolism and immunological responses, which previously have been implicated with schizophrenia based on experimental and observational studies. Copyright © 2016 by the Genetics Society of America.

  6. Preliminary test of an imaging probe for nuclear medicine using hybrid pixel detectors

    International Nuclear Information System (INIS)

    Bertolucci, E.; Maiorino, M.; Mettivier, G.; Montesi, M.C.; Russo, P.

    2002-01-01

    We are investigating the feasibility of an intraoperative imaging probe for lymphoscintigraphy with Tc-99m tracer, for sentinel node radioguided surgery, using the Medipix series of hybrid detectors coupled to a collimator. These detectors are pixelated semiconductor detectors bump-bonded to the Medipix1 photon counting read-out chip (64x64 pixel, 170 μm pitch) or to the Medipix2 chip (256x256 pixel, 55 μm pitch), developed by the European Medipix collaboration. The pixel detector we plan to use in the final version of the probe is a semi-insulating GaAs detector or a 1-2 mm thick CdZnTe detector. For the preliminary tests presented here, we used 300-μm thick silicon detectors, hybridized via bump-bonding to the Medipix1 chip. We used a tungsten parallel-hole collimator (7 mm thick, matrix array of 64x64 100 μm circular holes with 170 μm pitch), and a 22, 60 and 122 keV point-like (1 mm diameter) radioactive sources, placed at various distances from the detector. These tests were conducted in order to investigate the general feasibility of this imaging probe and its resolving power. Measurements show the high resolution but low efficiency performance of the detector-collimator set, which is able to image the 122 keV source with <1 mm FWHM resolution

  7. Test results with the Transrapid 06. System data from preliminary trials

    Energy Technology Data Exchange (ETDEWEB)

    Heinrich, K; Mnich, P

    1987-10-01

    Following the takeover of the Transrapid maglev facility by MVP, in spite of remaining preparatory work and conversion of the support and guidance system on the basis of a new electronic generation, interesting system data could be obtained experimentally before the planned continuous trials phase. Although the full test track length is not yet available - it is at present only 20.5 km - more than 25,000 km have already been covered in almost 1,200 test runs. Some 200 of these were for the purpose of demonstrating the Transrapid technology to visting German and foreign experts. The system data obtained from the preliminary trails were positive. Any weak points noted were mainly site-specific and not maglev-specific, but in spite of generally satisfactory results there are still many individual aspects calling for improvement and optimation before the technology can be declared ready for service. Proceeding from the positive trend of the system data obtained at up to 355 km/h, it can be said that proof of serviceability of the Transrapid transport system at speeds of up to 400 km/h can be provided in the next two years. (orig.).

  8. In Situ Vitrification preliminary results from the first large-scale radioactive test

    International Nuclear Information System (INIS)

    Buelt, J.L.; Westsik, J.H.

    1988-01-01

    The first large-scale radioactive test (LSRT) of In Situ Vitrification (ISV) has been completed. In Situ Vitrification is a process whereby joule heating immobilizes contaminated soil in place by converting it to a durable glass and crystalline waste form. The LSRT was conducted at an actual transuranic contaminated soil site on the Department of Energy's Hanford Site. The test had two objectives: 1) determine large-scale processing performance and 2) produce a waste form that can be fully evaluated as a potential technique for the final disposal of transuranic-contaminated soil sites at Hanford. This accomplishment has provided technical data to evaluate the ISV process for its potential in the final disposition of transuranic-contaminated soil sites at Hanford. The LSRT was completed in June 1987 after 295 hours of operation and 460 MWh of electrical energy dissipated to the molten soil. This resulted in a minimum of a 450-t block of vitrified soil extending to a depth of 7.3m (24 ft). The primary contaminants vitrified during the demonstration were Pu and Am transuranics, but also included up to 26,000 ppm fluorides. Preliminary data show that their retention in the vitrified product exceeded predictions meaning that fewer contaminants needed to be removed from the gaseous effluents by the processing equipment. The gaseous effluents were contained and treated throughout the run; that is, no radioactive or hazardous chemical releases were detected

  9. Using a situational judgement test for selection into dental core training: a preliminary analysis.

    Science.gov (United States)

    Rowett, E; Patterson, F; Cousans, F; Elley, K

    2017-05-12

    Objective and setting This paper describes the evaluation of a pilot situational judgement test (SJT) for selection into UK Dental Core Training (DCT). The SJT's psychometric properties, group differences based on gender and ethnicity, and candidate reactions were assessed.Methods The SJT targets four non-academic attributes important for success in DCT. Data were collected alongside live selection processes from five Health Education England local teams in the UK (N = 386). Candidates completed the pilot SJT and an evaluation questionnaire to examine their reactions to the test.Results SJT scores were relatively normally distributed and showed acceptable levels of internal reliability (α = 0.68). Difficulty level and partial correlations between scenarios and SJT total score were in the expected ranges (64.61% to 90.03% and r = 0.06 to 0.41, respectively). No group differences were found for gender, and group differences between White and BME candidates were minimal. Most candidates perceived the SJT as relevant to the target role, appropriate and fair.Conclusions This study demonstrated the potential suitability of an SJT for use in DCT selection. Future research should replicate these preliminary findings in other cohorts, and assess the predictive validity of the SJT for predicting key training and practice-based outcomes.

  10. Preliminary Tests in the NACA Tank to Investigate the Fundamental Characteristics of Hydrofoils

    Science.gov (United States)

    Ward, Kenneth E.; Land, Norman S.

    1940-01-01

    This preliminary investigation was made to study the hydrodynamic properties and general behavior of simple hydrofoils. Six 5- by 30-inch plain, rectangular hydrofoils were tested in the NACA tank at various speeds, angles of attack and depths below the water surface. Two of the hydrofoils had sections representing the sections of commonly used airfoils, one had a section similar to one developed Guidoni for use with hydrofoil-equipped seaplane floats, and three had sections designed to have constant chordwise pressure distributions at given values of the lift coefficient for the purpose of delaying the speed at which cavitation begins. The experimental results are presented as curves of the lift and drag coefficients plotted against speed for the various angles of attack and depths for which the hydrofoils were tested. A number of derived curves are included for the purpose of better comparing the characteristics of the hydrofoils and to show the effects of depth. Several representative photographs show the development of cavitation on the the upper surface of the hydrofoils. The results indicate that properly designed hydrofoil sections will have excellent characteristics and that the speed at which cavitation occurs may be delayed to an appreciable extent by the use of suitable sections.

  11. Preliminary failure modes and effects analysis on Korean HCCR TBS to be tested in ITER

    International Nuclear Information System (INIS)

    Ahn, Mu-Young; Cho, Seungyon; Jin, Hyung Gon; Lee, Dong Won; Park, Yi-Hyun; Lee, Youngmin

    2015-01-01

    Highlights: • Postulated initiating events are identified through failure modes and effects analysis on the current HCCR TBS design. • A set of postulated initiating events are selected for consideration of deterministic analysis. • Accident evolutions on the selected postualted initiating events are qualitatively described for deterministic analysis. - Abstract: Korean Helium cooled ceramic reflector (HCCR) Test blanket system (TBS), which comprises Test blanket module (TBM) and ancillary systems in various locations of ITER building, is operated at high temperature and pressure with decay heat. Therefore, safety is utmost concern in design process and it is required to demonstrate that the HCCR TBS is designed to comply with the safety requirements and guidelines of ITER. Due to complexity of the system with many interfaces with ITER, a systematic approach is necessary for safety analysis. This paper presents preliminary failure modes and effects analysis (FMEA) study performed for the HCCR TBS. FMEA is a systematic methodology in which failure modes for components in the system and their consequences are studied from the bottom-up. Over eighty failure modes have been investigated on the HCCR TBS. The failure modes that have similar consequences are grouped as postulated initiating events (PIEs) and total seven reference accident scenarios are derived from FMEA study for deterministic accident analysis. Failure modes not covered here due to evolving design of the HCCR TBS and uncertainty in maintenance procedures will be studied further in near future.

  12. Preliminary failure modes and effects analysis on Korean HCCR TBS to be tested in ITER

    Energy Technology Data Exchange (ETDEWEB)

    Ahn, Mu-Young, E-mail: myahn74@nfri.re.kr [National Fusion Research Institute, Daejeon (Korea, Republic of); Cho, Seungyon [National Fusion Research Institute, Daejeon (Korea, Republic of); Jin, Hyung Gon; Lee, Dong Won [Korea Atomic Energy Research Institute, Daejeon (Korea, Republic of); Park, Yi-Hyun; Lee, Youngmin [National Fusion Research Institute, Daejeon (Korea, Republic of)

    2015-10-15

    Highlights: • Postulated initiating events are identified through failure modes and effects analysis on the current HCCR TBS design. • A set of postulated initiating events are selected for consideration of deterministic analysis. • Accident evolutions on the selected postualted initiating events are qualitatively described for deterministic analysis. - Abstract: Korean Helium cooled ceramic reflector (HCCR) Test blanket system (TBS), which comprises Test blanket module (TBM) and ancillary systems in various locations of ITER building, is operated at high temperature and pressure with decay heat. Therefore, safety is utmost concern in design process and it is required to demonstrate that the HCCR TBS is designed to comply with the safety requirements and guidelines of ITER. Due to complexity of the system with many interfaces with ITER, a systematic approach is necessary for safety analysis. This paper presents preliminary failure modes and effects analysis (FMEA) study performed for the HCCR TBS. FMEA is a systematic methodology in which failure modes for components in the system and their consequences are studied from the bottom-up. Over eighty failure modes have been investigated on the HCCR TBS. The failure modes that have similar consequences are grouped as postulated initiating events (PIEs) and total seven reference accident scenarios are derived from FMEA study for deterministic accident analysis. Failure modes not covered here due to evolving design of the HCCR TBS and uncertainty in maintenance procedures will be studied further in near future.

  13. Awareness and uptake of direct-to-consumer genetic testing among cancer cases, their relatives, and controls: the Northwest Cancer Genetics Network.

    Science.gov (United States)

    Hall, Taryn O; Renz, Anne D; Snapinn, Katherine W; Bowen, Deborah J; Edwards, Karen L

    2012-07-01

    To determine if awareness of, interest in, and use of direct-to-consumer (DTC) genetic testing is greater in a sample of high-risk individuals (cancer cases and their relatives), compared to controls. Participants were recruited from the Northwest Cancer Genetics Network. A follow-up survey was mailed to participants to assess DTC genetic testing awareness, interest, and use. One thousand two hundred sixty-seven participants responded to the survey. Forty-nine percent of respondents were aware of DTC genetic testing. Of those aware, 19% indicated interest in obtaining and testing. Additional information supplied by respondents who reported use of DTC genetic tests indicated that 55% of these respondents likely engaged in clinical genetic testing, rather than DTC genetic testing. Awareness of DTC genetic testing was greater in our sample of high-risk individuals than in controls and population-based studies. Although interest in and use of these tests among cases in our sample were equivalent to other population-based studies, interest in testing was higher among relatives and people who self-referred for a registry focused on cancer than among cases and controls. Additionally, our results suggest that there may be some confusion about what constitutes DTC genetic testing.

  14. [Subchronic toxicity test of genetically modified rice with double antisense starch-branching enzyme gene].

    Science.gov (United States)

    Li, Min; Piao, Jianhua; Yang, Xiaoguang

    2010-07-01

    To observe the sub-chronic toxic effects of the genetically modified rice with double antisense SBE gene. Based on gender and weight, weanling Wistar rats were randomly sorted into five groups: non-genetically modified rice group (group A), genetically modified rice group (group B), half genetically modified rice group (group C), quarter genetically modified rice group (group D) and AIN-93G normal diet group (group E). Indicators were the followings: body weight, food consumption, blood routine, blood biochemical test, organ weight, bone density and pathological examination of organs. At the middle of the experiment, the percentage of monocyte of female group B was less than that of group E (P 0.05), and no notable abnormity in the pathological examination of main organs (P > 0.05). There were no enough evidence to confirm the sub-chronic toxicity of genetically modified rice on rats.

  15. Assessing individual risk for AMD with genetic counseling, family history, and genetic testing.

    Science.gov (United States)

    Cascella, R; Strafella, C; Longo, G; Manzo, L; Ragazzo, M; De Felici, C; Gambardella, S; Marsella, L T; Novelli, G; Borgiani, P; Sangiuolo, F; Cusumano, A; Ricci, F; Giardina, E

    2018-02-01

    PurposeThe goal was to develop a simple model for predicting the individual risk profile for age-related macular degeneration (AMD) on the basis of genetic information, disease family history, and smoking habits.Patients and methodsThe study enrolled 151 AMD patients following specific clinical and environmental inclusion criteria: age >55 years, positive family history for AMD, presence of at least one first-degree relative affected by AMD, and smoking habits. All of the samples were genotyped for rs1061170 (CFH) and rs10490924 (ARMS2) with a TaqMan assay, using a 7500 Fast Real Time PCR device. Statistical analysis was subsequently employed to calculate the real individual risk (OR) based on the genetic data (ORgn), family history (ORf), and smoking habits (ORsm).Results and conclusionThe combination of ORgn, ORf, and ORsm allowed the calculation of the Ort that represented the realistic individual risk for developing AMD. In this report, we present a computational model for the estimation of the individual risk for AMD. Moreover, we show that the average distribution of risk alleles in the general population and the knowledge of parents' genotype can be decisive to assess the real disease risk. In this contest, genetic counseling is crucial to provide the patients with an understanding of their individual risk and the availability for preventive actions.

  16. Attitudes Toward Breast Cancer Genetic Testing in Five Special Population Groups.

    Science.gov (United States)

    Ramirez, Amelie G; Chalela, Patricia; Gallion, Kipling J; Muñoz, Edgar; Holden, Alan E; Burhansstipanov, Linda; Smith, Selina A; Wong-Kim, Evaon; Wyatt, Stephen W; Suarez, Lucina

    2015-01-01

    This study examined interest in and attitudes toward genetic testing in 5 different population groups. The survey included African American, Asian American, Latina, Native American, and Appalachian women with varying familial histories of breast cancer. A total of 49 women were interviewed in person. Descriptive and nonparametric statistical techniques were used to assess ethnic group differences. Overall, interest in testing was high. All groups endorsed more benefits than risks. There were group differences regarding endorsement of specific benefits and risks: testing to "follow doctor recommendations" (p=0.017), "concern for effects on family" (p=0.044), "distrust of modern medicine" (p=0.036), "cost" (p=0.025), and "concerns about communication of results to others" (p=0.032). There was a significant inverse relationship between interest and genetic testing cost (p<0.050), with the exception of Latinas, who showed the highest level of interest regardless of increasing cost. Cost may be an important barrier to obtaining genetic testing services, and participants would benefit by genetic counseling that incorporates the unique cultural values and beliefs of each group to create an individualized, culturally competent program. Further research about attitudes toward genetic testing is needed among Asian Americans, Native Americans, and Appalachians for whom data are severely lacking. Future study of the different Latina perceptions toward genetic testing are encouraged.

  17. Attitudes about regulation among direct-to-consumer genetic testing customers.

    Science.gov (United States)

    Bollinger, Juli Murphy; Green, Robert C; Kaufman, David

    2013-05-01

    The first regulatory rulings by the U.S. Food and Drug Administration on direct-to-consumer (DTC) genetic testing services are expected soon. As the process of regulating these and other genetic tests moves ahead, it is important to understand the preferences of DTC genetic testing customers about the regulation of these products. An online survey of customers of three DTC genetic testing companies was conducted 2-8 months after they had received their results. Participants were asked about the importance of regulating the companies selling DTC genetic tests. Most of the 1,046 respondents responded that it would be important to have a nongovernmental (84%) or governmental agency (73%) monitor DTC companies' claims to ensure the consistency with scientific evidence. However, 66% also felt that it was important that DTC tests be available without governmental oversight. Nearly, all customers favored a policy to ensure that insurers and law enforcement officials could not access their information. Although many DTC customers want access to genetic testing services without restrictions imposed by the government regulation, most also favor an organization operating alongside DTC companies that will ensure that the claims made by the companies are consistent with sound scientific evidence. This seeming contradiction may indicate that DTC customers want to ensure that they have unfettered access to high-quality information. Additionally, policies to help ensure privacy of data would be welcomed by customers, despite relatively high confidence in the companies.

  18. Five-Kilometers Time Trial: Preliminary Validation of a Short Test for Cycling Performance Evaluation.

    Science.gov (United States)

    Dantas, Jose Luiz; Pereira, Gleber; Nakamura, Fabio Yuzo

    2015-09-01

    The five-kilometer time trial (TT5km) has been used to assess aerobic endurance performance without further investigation of its validity. This study aimed to perform a preliminary validation of the TT5km to rank well-trained cyclists based on aerobic endurance fitness and assess changes of the aerobic endurance performance. After the incremental test, 20 cyclists (age = 31.3 ± 7.9 years; body mass index = 22.7 ± 1.5 kg/m(2); maximal aerobic power = 360.5 ± 49.5 W) performed the TT5km twice, collecting performance (time to complete, absolute and relative power output, average speed) and physiological responses (heart rate and electromyography activity). The validation criteria were pacing strategy, absolute and relative reliability, validity, and sensitivity. Sensitivity index was obtained from the ratio between the smallest worthwhile change and typical error. The TT5km showed high absolute (coefficient of variation 0.95) reliability of performance variables, whereas it presented low reliability of physiological responses. The TT5km performance variables were highly correlated with the aerobic endurance indices obtained from incremental test (r > 0.70). These variables showed adequate sensitivity index (> 1). TT5km is a valid test to rank the aerobic endurance fitness of well-trained cyclists and to differentiate changes on aerobic endurance performance. Coaches can detect performance changes through either absolute (± 17.7 W) or relative power output (± 0.3 W.kg(-1)), the time to complete the test (± 13.4 s) and the average speed (± 1.0 km.h(-1)). Furthermore, TT5km performance can also be used to rank the athletes according to their aerobic endurance fitness.

  19. Are Adolescents with ADHD Interested in Genetic Testing for Nicotine Addiction Susceptibility?

    Directory of Open Access Journals (Sweden)

    Linda J. Herbert

    2010-04-01

    Full Text Available It has been well-established that some adolescents diagnosed with attention-deficit/hyperactivity disorder (ADHD are at increased risk for cigarette smoking. Current research on the genetic basis of this association could ultimately translate into genetic tests capable of identifying smoking-prone adolescents with ADHD. In this study we examined 81 ADHD affected adolescents’ (age 13–21 interest in genetic testing for nicotine addiction susceptibility. Fifty-seven percent of adolescents indicated a fair amount of interest or more in testing. Most adolescents indicated that the personal information revealed from testing would be either useful (29% or interesting (37%. Implications for genetically-informed smoking prevention and cessation interventions in high risk adolescents with ADHD are discussed.

  20. Family system characteristics and psychological adjustment to cancer susceptibility genetic testing: a prospective study.

    NARCIS (Netherlands)

    Oostrom, I.I.H. van; Meijers-Heijboer, H.; Duivenvoorden, H.J.; Brocker-Vriends, A.H.; Asperen, C.J. van; Sijmons, R.H.; Seynaeve, C.; Gool, A.R. van; Klijn, J.G.M.; Tibben, A.

    2007-01-01

    This study examined prospectively the contribution of family functioning, differentiation to parents, family communication and support from relatives to psychological distress in individuals undergoing genetic susceptibility testing for a known familial pathogenic BRCA1/2 or Hereditary nonpolyposis

  1. Family system characteristics and psychological adjustment to cancer susceptibility genetic testing: a prospective study

    NARCIS (Netherlands)

    van Oostrom, I.; Meijers-Heijboer, H.; Duivenvoorden, H. J.; Bröcker-Vriends, A. H. J. T.; van Asperen, C. J.; Sijmons, R. H.; Seynaeve, C.; van Gool, A. R.; Klijn, J. G. M.; Tibben, A.

    2007-01-01

    This study examined prospectively the contribution of family functioning, differentiation to parents, family communication and support from relatives to psychological distress in individuals undergoing genetic susceptibility testing for a known familial pathogenic BRCA1/2 or Hereditary nonpolyposis

  2. Family system characteristics and psychological adjustment to cancer susceptibility genetic testing : a prospective study

    NARCIS (Netherlands)

    van Oostrom, I.; Meijers-Heijboer, H.; Duivenvoorden, H. J.; Brocker-Vriends, A. H. J. T.; van Asperen, C. J.; Sijmons, R. H.; Seynaeve, C.; Van Gool, A. R.; Klijn, J. G. M.; Tibben, A.

    This study examined prospectively the contribution of family functioning, differentiation to parents, family communication and support from relatives to psychological distress in individuals undergoing genetic susceptibility testing for a known familial pathogenic BRCA1/2 or Hereditary nonpolyposis

  3. Identifying genetic marker sets associated with phenotypes via an efficient adaptive score test

    KAUST Repository

    Cai, T.; Lin, X.; Carroll, R. J.

    2012-01-01

    the overall effect of a marker-set have been actively studied in recent years. For example, score tests derived under an Empirical Bayes (EB) framework (Liu and others, 2007. Semiparametric regression of multidimensional genetic pathway data: least

  4. Diagnosis of Lynch Syndrome: Genetic Testing Identifies a Potentially Deadly Hereditary Disease

    Science.gov (United States)

    ... of Lynch Syndrome Follow us A Diagnosis of Lynch Syndrome Genetic testing identifies a potentially deadly hereditary disease ... helped Jack learn what was wrong. Jack had Lynch Syndrome—an inherited disorder. Lynch Syndrome increases the risk ...

  5. Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders.

    Science.gov (United States)

    Smith, Corrine O; Lipe, Hillary P; Bird, Thomas D

    2004-06-01

    With the exception of Huntington disease, the psychological and psychosocial impact of DNA testing for neurogenetic disorders has not been well studied. To evaluate the psychosocial impact of genetic testing for autosomal dominant forms of hereditary ataxia and neuromuscular disorders. Patients Fifty subjects at risk for autosomal dominant forms of spinocerebellar ataxia (n = 11), muscular dystrophy (n = 28), and hereditary neuropathy (n = 12). A prospective, descriptive, observational study in a university setting of individuals who underwent genetic counseling and DNA testing. Participants completed 3 questionnaires before testing and at regular intervals after testing. The questionnaire set included the Revised Impact of Event Scale, the Hospital Anxiety and Depression Scale, demographic information, and an assessment of attitudes and feelings about genetic testing. Thirty-nine subjects (78%) completed 6 months to 5 years of posttest follow-up. Common reasons for pursuing genetic testing were to provide an explanation for symptoms, emotional relief, and information for future planning. Thirty-four (68%) had positive and 16 (32%) had negative genetic results. In those with a positive result, 26 (76%) had nonspecific signs or symptoms of the relevant disorder. Forty-two participants (84%) felt genetic testing was beneficial. Groups with positive and negative test results coped well with results. However, 13 subjects (10 with positive and 3 with negative results) reported elevated anxiety levels, and 3 (1 with positive and 2 with negative results) expressed feelings of depression during the follow-up period. The test result was not predictive of anxiety or depression. Most individuals find neurogenetic testing to be beneficial, regardless of the result. Anxiety or depression may persist in some persons with positive or negative test results. Testing can have a demonstrable impact on family planning and interpersonal relationships. Further studies are needed to

  6. A review of statistical methods for testing genetic anticipation: looking for an answer in Lynch syndrome

    DEFF Research Database (Denmark)

    Boonstra, Philip S; Gruber, Stephen B; Raymond, Victoria M

    2010-01-01

    Anticipation, manifested through decreasing age of onset or increased severity in successive generations, has been noted in several genetic diseases. Statistical methods for genetic anticipation range from a simple use of the paired t-test for age of onset restricted to affected parent-child pairs......, and this right truncation effect is more pronounced in children than in parents. In this study, we first review different statistical methods for testing genetic anticipation in affected parent-child pairs that address the issue of bias due to right truncation. Using affected parent-child pair data, we compare...... the issue of multiplex ascertainment and its effect on the different methods. We then focus on exploring genetic anticipation in Lynch syndrome and analyze new data on the age of onset in affected parent-child pairs from families seen at the University of Michigan Cancer Genetics clinic with a mutation...

  7. EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease

    OpenAIRE

    Losekoot, Monique; van Belzen, Martine J; Seneca, Sara; Bauer, Peter; Stenhouse, Susan A R; Barton, David E

    2012-01-01

    Huntington disease (HD) is caused by the expansion of an unstable polymorphic trinucleotide (CAG)n repeat in exon 1 of the HTT gene, which translates into an extended polyglutamine tract in the protein. Laboratory diagnosis of HD involves estimation of the number of CAG repeats. Molecular genetic testing for HD is offered in a wide range of laboratories both within and outside the European community. In order to measure the quality and raise the standard of molecular genetic testing in these ...

  8. Predictive Psychiatric Genetic Testing in Minors: An Exploration of the Non-Medical Benefits.

    Science.gov (United States)

    Manzini, Arianna; Vears, Danya F

    2018-03-01

    Predictive genetic testing for susceptibility to psychiatric conditions is likely to become part of standard practice. Because the onset of most psychiatric diseases is in late adolescence or early adulthood, testing minors could lead to early identification that may prevent or delay the development of these disorders. However, due to their complex aetiology, psychiatric genetic testing does not provide the immediate medical benefits that current guidelines require for testing minors. While several authors have argued non-medical benefits may play a crucial role in favour of predictive testing for other conditions, little research has explored such a role in psychiatric disorders. This paper outlines the potential non-medical benefits and harms of psychiatric genetic testing in minors in order to consider whether the non-medical benefits could ever make such testing appropriate. Five non-medical themes arise in the literature: psychological impacts, autonomy/self-determination, implications of the biomedical approach, use of financial and intellectual resources, and discrimination. Non-medical benefits were prominent in all of them, suggesting that psychiatric genetic testing in minors may be appropriate in some circumstances. Further research needs to empirically assess these potential non-medical benefits, incorporate minors in the debate, and include normative reflection to evaluate the very purposes and motivations of psychiatric genetic testing in minors.

  9. AGR-2 Irradiated Test Train Preliminary Inspection and Disassembly First Look

    Energy Technology Data Exchange (ETDEWEB)

    Ploger, Scott [Idaho National Lab. (INL), Idaho Falls, ID (United States); Demkowciz, Paul [Idaho National Lab. (INL), Idaho Falls, ID (United States); Harp, Jason [Idaho National Lab. (INL), Idaho Falls, ID (United States)

    2015-05-01

    The AGR 2 irradiation experiment began in June 2010 and was completed in October 2013. The test train was shipped to the Materials and Fuels Complex in July 2014 for post-irradiation examination (PIE). The first PIE activities included nondestructive examination of the test train, followed by disassembly of the test train and individual capsules and detailed inspection of the capsule contents, including the fuel compacts and their graphite fuel holders. Dimensional metrology was then performed on the compacts, graphite holders, and steel capsule shells. AGR 2 disassembly and metrology were performed with the same equipment used successfully on AGR 1 test train components. Gamma spectrometry of the intact test train gave a preliminary look at the condition of the interior components. No evidence of damage to compacts or graphite components was evident from the isotopic and gross gamma scans. Disassembly of the AGR 2 test train and its capsules was conducted rapidly and efficiently by employing techniques refined during the AGR 1 disassembly campaign. Only one major difficulty was encountered while separating the test train into capsules when thermocouples (of larger diameter than used in AGR 1) and gas lines jammed inside the through tubes of the upper capsules, which required new tooling for extraction. Disassembly of individual capsules was straightforward with only a few minor complications. On the whole, AGR 2 capsule structural components appeared less embrittled than their AGR 1 counterparts. Compacts from AGR 2 Capsules 2, 3, 5, and 6 were in very good condition upon removal. Only relatively minor damage or markings were visible using high resolution photographic inspection. Compact dimensional measurements indicated radial shrinkage between 0.8 to 1.7%, with the greatest shrinkage observed on Capsule 2 compacts that were irradiated at higher temperature. Length shrinkage ranged from 0.1 to 0.9%, with by far the lowest axial shrinkage on Capsule 3 compacts

  10. Are we ready for genetic testing for primary open-angle glaucoma?

    Science.gov (United States)

    Khawaja, Anthony P; Viswanathan, Ananth C

    2018-05-01

    Following a dramatic reduction in the cost of genotyping technology in recent years, there have been significant advances in the understanding of the genetic basis of glaucoma. Glaucoma patients represent around a quarter of all outpatient activity in the UK hospital eye service and are a huge burden for the National Health Service. A potential benefit of genetic testing is personalised glaucoma management, allowing direction of our limited healthcare resources to the glaucoma patients who most need it. Our review aims to summarise recent discoveries in the field of glaucoma genetics and to discuss their potential clinical utility. While genome-wide association studies have now identified over ten genes associated with primary open-angle glaucoma (POAG), individually, variants in these genes are not predictive of POAG in populations. There are data suggesting some of these POAG variants are associated with conversion from ocular hypertension to POAG and visual field progression among POAG patients. However, these studies have not been replicated yet and such genetic testing is not currently justified in clinical care. In contrast, genetic testing for inherited early-onset disease in relatives of POAG patients with a known genetic mutation is of clear benefit; this can support either regular review to commence early treatment when the disease develops, or discharge from ophthalmology services of relatives who do not carry the mutation. Genetic testing for POAG at a population level is not currently justified.

  11. Support Seeking or Familial Obligation: An Investigation of Motives for Disclosing Genetic Test Results.

    Science.gov (United States)

    Greenberg, Marisa; Smith, Rachel A

    2016-01-01

    Genetic test results reveal not only personal information about a person's likelihood of certain medical conditions but also information about the person's genetic relatives. Given the familial nature of genetic information, one's obligation to protect family members may be a motive for disclosing genetic test results, but this claim has not been methodically tested. Existing models of disclosure decision making presume self-interested motives, such as seeking social support, instead of other-interested motives, like familial obligation. This study investigated young adults' (N = 173) motives to share a genetic-based health condition, alpha-1 antitrypsin deficiency, after reading a hypothetical vignette. Results show that social support and familial obligation were both reported as motives for disclosure. In fact, some participants reported familial obligation as their primary motivator for disclosure. Finally, stronger familial obligation predicted increased likelihood of disclosing hypothetical genetic test results. Implications of these results were discussed in reference to theories of disclosure decision-making models and the practice of genetic disclosures.

  12. A closer look at the effect of preliminary goodness-of-fit testing for normality for the one-sample t-test.

    Science.gov (United States)

    Rochon, Justine; Kieser, Meinhard

    2011-11-01

    Student's one-sample t-test is a commonly used method when inference about the population mean is made. As advocated in textbooks and articles, the assumption of normality is often checked by a preliminary goodness-of-fit (GOF) test. In a paper recently published by Schucany and Ng it was shown that, for the uniform distribution, screening of samples by a pretest for normality leads to a more conservative conditional Type I error rate than application of the one-sample t-test without preliminary GOF test. In contrast, for the exponential distribution, the conditional level is even more elevated than the Type I error rate of the t-test without pretest. We examine the reasons behind these characteristics. In a simulation study, samples drawn from the exponential, lognormal, uniform, Student's t-distribution with 2 degrees of freedom (t(2) ) and the standard normal distribution that had passed normality screening, as well as the ingredients of the test statistics calculated from these samples, are investigated. For non-normal distributions, we found that preliminary testing for normality may change the distribution of means and standard deviations of the selected samples as well as the correlation between them (if the underlying distribution is non-symmetric), thus leading to altered distributions of the resulting test statistics. It is shown that for skewed distributions the excess in Type I error rate may be even more pronounced when testing one-sided hypotheses. ©2010 The British Psychological Society.

  13. Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement

    Science.gov (United States)

    Webborn, Nick; Williams, Alun; McNamee, Mike; Bouchard, Claude; Pitsiladis, Yannis; Ahmetov, Ildus; Ashley, Euan; Byrne, Nuala; Camporesi, Silvia; Collins, Malcolm; Dijkstra, Paul; Eynon, Nir; Fuku, Noriyuki; Garton, Fleur C; Hoppe, Nils; Holm, Søren; Kaye, Jane; Klissouras, Vassilis; Lucia, Alejandro; Maase, Kamiel; Moran, Colin; North, Kathryn N; Pigozzi, Fabio; Wang, Guan

    2015-01-01

    The general consensus among sport and exercise genetics researchers is that genetic tests have no role to play in talent identification or the individualised prescription of training to maximise performance. Despite the lack of evidence, recent years have witnessed the rise of an emerging market of direct-to-consumer marketing (DTC) tests that claim to be able to identify children's athletic talents. Targeted consumers include mainly coaches and parents. There is concern among the scientific community that the current level of knowledge is being misrepresented for commercial purposes. There remains a lack of universally accepted guidelines and legislation for DTC testing in relation to all forms of genetic testing and not just for talent identification. There is concern over the lack of clarity of information over which specific genes or variants are being tested and the almost universal lack of appropriate genetic counselling for the interpretation of the genetic data to consumers. Furthermore independent studies have identified issues relating to quality control by DTC laboratories with different results being reported from samples from the same individual. Consequently, in the current state of knowledge, no child or young athlete should be exposed to DTC genetic testing to define or alter training or for talent identification aimed at selecting gifted children or adolescents. Large scale collaborative projects, may help to develop a stronger scientific foundation on these issues in the future. PMID:26582191

  14. Eugenics and Mandatory Informed Prenatal Genetic Testing: A Unique Perspective from China.

    Science.gov (United States)

    Zhang, Di; Ng, Vincent H; Wang, Zhaochen; Zhai, Xiaomei; Lie, Reidar K

    2016-08-01

    The application of genetic technologies in China, especially in the area of prenatal genetic testing, is rapidly increasing in China. In the wealthy regions of China, prenatal genetic testing is already very widely adopted. We argue that the government should actively promote prenatal genetic testing to the poor areas of the country. In fact, the government should prioritize resources first to make prenatal genetic testing a standard routine care with an opt-out model in these area. Healthcare professions would be required to inform pregnant women about the availability of genetic testing and provide free testing on a routine basis unless the parents choose not to do so. We argue that this proposal will allow parents to make a more informed decision about their reproductive choices. Secondarily, this proposal will attract more healthcare professionals and other healthcare resources to improve the healthcare infrastructures in the less-developed regions of the country. This will help to reduce the inequity of accessing healthcare services between in different regions of China. We further argue that this policy proposal is not practicing eugenics. © 2015 John Wiley & Sons Ltd.

  15. Creating IRT-Based Parallel Test Forms Using the Genetic Algorithm Method

    Science.gov (United States)

    Sun, Koun-Tem; Chen, Yu-Jen; Tsai, Shu-Yen; Cheng, Chien-Fen

    2008-01-01

    In educational measurement, the construction of parallel test forms is often a combinatorial optimization problem that involves the time-consuming selection of items to construct tests having approximately the same test information functions (TIFs) and constraints. This article proposes a novel method, genetic algorithm (GA), to construct parallel…

  16. Preliminary Analysis of the Transient Reactor Test Facility (TREAT) with PROTEUS

    Energy Technology Data Exchange (ETDEWEB)

    Connaway, H. M. [Argonne National Lab. (ANL), Argonne, IL (United States); Lee, C. H. [Argonne National Lab. (ANL), Argonne, IL (United States)

    2015-11-30

    The neutron transport code PROTEUS has been used to perform preliminary simulations of the Transient Reactor Test Facility (TREAT). TREAT is an experimental reactor designed for the testing of nuclear fuels and other materials under transient conditions. It operated from 1959 to 1994, when it was placed on non-operational standby. The restart of TREAT to support the U.S. Department of Energy’s resumption of transient testing is currently underway. Both single assembly and assembly-homogenized full core models have been evaluated. Simulations were performed using a historic set of WIMS-ANL-generated cross-sections as well as a new set of Serpent-generated cross-sections. To support this work, further analyses were also performed using additional codes in order to investigate particular aspects of TREAT modeling. DIF3D and the Monte-Carlo codes MCNP and Serpent were utilized in these studies. MCNP and Serpent were used to evaluate the effect of geometry homogenization on the simulation results and to support code-to-code comparisons. New meshes for the PROTEUS simulations were created using the CUBIT toolkit, with additional meshes generated via conversion of selected DIF3D models to support code-to-code verifications. All current analyses have focused on code-to-code verifications, with additional verification and validation studies planned. The analysis of TREAT with PROTEUS-SN is an ongoing project. This report documents the studies that have been performed thus far, and highlights key challenges to address in future work.

  17. Explaining behavior change after genetic testing: the problem of collinearity between test results and risk estimates.

    Science.gov (United States)

    Fanshawe, Thomas R; Prevost, A Toby; Roberts, J Scott; Green, Robert C; Armstrong, David; Marteau, Theresa M

    2008-09-01

    This paper explores whether and how the behavioral impact of genotype disclosure can be disentangled from the impact of numerical risk estimates generated by genetic tests. Secondary data analyses are presented from a randomized controlled trial of 162 first-degree relatives of Alzheimer's disease (AD) patients. Each participant received a lifetime risk estimate of AD. Control group estimates were based on age, gender, family history, and assumed epsilon4-negative apolipoprotein E (APOE) genotype; intervention group estimates were based upon the first three variables plus true APOE genotype, which was also disclosed. AD-specific self-reported behavior change (diet, exercise, and medication use) was assessed at 12 months. Behavior change was significantly more likely with increasing risk estimates, and also more likely, but not significantly so, in epsilon4-positive intervention group participants (53% changed behavior) than in control group participants (31%). Intervention group participants receiving epsilon4-negative genotype feedback (24% changed behavior) and control group participants had similar rates of behavior change and risk estimates, the latter allowing assessment of the independent effects of genotype disclosure. However, collinearity between risk estimates and epsilon4-positive genotypes, which engender high-risk estimates, prevented assessment of the independent effect of the disclosure of an epsilon4 genotype. Novel study designs are proposed to determine whether genotype disclosure has an impact upon behavior beyond that of numerical risk estimates.

  18. Factors Motivating Individuals to Consider Genetic Testing for Type 2 Diabetes Risk Prediction.

    Directory of Open Access Journals (Sweden)

    Jennifer Wessel

    Full Text Available The purpose of this study was to identify attitudes and perceptions of willingness to participate in genetic testing for type 2 diabetes (T2D risk prediction in the general population. Adults (n = 598 were surveyed on attitudes about utilizing genetic testing to predict future risk of T2D. Participants were recruited from public libraries (53%, online registry (37% and a safety net hospital emergency department (10%. Respondents were 37 ± 11 years old, primarily White (54%, female (69%, college educated (46%, with an annual income ≥$25,000 (56%. Half of participants were interested in genetic testing for T2D (52% and 81% agreed/strongly agreed genetic testing should be available to the public. Only 57% of individuals knew T2D is preventable. A multivariate model to predict interest in genetic testing was adjusted for age, gender, recruitment location and BMI; significant predictors were motivation (high perceived personal risk of T2D [OR = 4.38 (1.76, 10.9]; family history [OR = 2.56 (1.46, 4.48]; desire to know risk prior to disease onset [OR = 3.25 (1.94, 5.42]; and knowing T2D is preventable [OR = 2.11 (1.24, 3.60], intention (if the cost is free [OR = 10.2 (4.27, 24.6]; and learning T2D is preventable [OR = 5.18 (1.95, 13.7] and trust of genetic testing results [OR = 0.03 (0.003, 0.30]. Individuals are interested in genetic testing for T2D risk which offers unique information that is personalized. Financial accessibility, validity of the test and availability of diabetes prevention programs were identified as predictors of interest in T2D testing.

  19. Non-genetic health professionals' attitude towards, knowledge of and skills in discussing and ordering genetic testing for hereditary cancer.

    Science.gov (United States)

    Douma, Kirsten F L; Smets, Ellen M A; Allain, Dawn C

    2016-04-01

    Non-genetic health professionals (NGHPs) have insufficient knowledge of cancer genetics, express educational needs and are unprepared to counsel their patients regarding their genetic test results. So far, it is unclear how NGHPs perceive their own communication skills. This study was undertaken to gain insight in their perceptions, attitudes and knowledge. Two publically accessible databases were used to invite NGHPs providing cancer genetic services to complete a questionnaire. The survey assessed: sociodemographic attributes, experience in ordering hereditary cancer genetic testing, attitude, knowledge, perception of communication skills (e.g. information giving, decision-making) and educational needs. Of all respondents (N = 49, response rate 11%), most have a positive view of their own information giving (mean = 53.91, range 13-65) and decision making skills (64-77% depending on topic). NGHPs feel responsible for enabling disease and treatment related behavior (89-91%). However, 20-30% reported difficulties managing patients' emotions and did not see management of long-term emotions as their responsibility. Correct answers on knowledge questions ranged between 41 and 96%. Higher knowledge was associated with more confidence in NGHPs' own communication skills (r(s) = .33, p = 0.03). Although NGHPs have a positive view of their communication skills, they perceive more difficulties managing emotions. The association between less confidence in communication skills and lower knowledge level suggests awareness of knowledge gaps affects confidence. NGHPs might benefit from education about managing client emotions. Further research using observation of actual counselling consultations is needed to investigate the skills of this specific group of providers.

  20. "Be ready against cancer, now": direct-to-consumer advertising for genetic testing.

    Science.gov (United States)

    William-Jones, Bryn

    2006-04-01

    A recent addition to the debate about the benefits and harms of direct-to-consumer (DTC) advertising of medicines and pharmaceuticals is a growing critique of DTC marketing and sale of genetic tests. Academic and policy literatures exploring this issue have, however, tended to focus on the sale of genetic tests, paying rather less attention to the particular implications of advertising. The globalization of broadcast media and ever increasing access to the Internet mean that public exposure to advertising for medical technologies is a reality that national regulatory bodies will be hard pressed to constrain. Working through a case study detailing Myriad Genetics' 2002 pilot advertising campaign for their BRACAnalysis genetic susceptibility test for hereditary breast and ovarian cancer, this paper highlights some of the diverse and often overlooked and unregulated approaches to DTC advertising, and the associated social, ethical and policy implications.

  1. Augmented Reality Cubes for Cognitive Gaming: Preliminary Usability and Game Experience Testing

    Directory of Open Access Journals (Sweden)

    Costas Boletsis

    2016-03-01

    Full Text Available Early detection is important in dementia care; however, cognitive impairment is still under-recognised and under-diagnosed. Cognitive screening and training are two important preventative treatments, which can lead to early detection of cognitive decline. In this work, the “Cognitive Augmented Reality Cubes” (CogARC system is presented, i.e. a serious game for cognitive training and screening, utilising an interaction technique based on Augmented Reality and the manipulation of tangible, physical objects (cubes. The game is a collection of cognitive mini-games of preventative nature and is, primarily, targeting elderly players (≥60 years old. A preliminary testing was conducted focusing on the game experience that CogARC offers (utilising the In-Game Experience Questionnaire, the usability of the system (using the System Usability Scale, and the specific user observations and remarks, as documented by open, semi-structured interviews.  Overall, CogARC demonstrated satisfying positive responses, however, the negative reactions indicated that there are specific problems with aspects of the interaction technique and a number of mini-games. The open interview shed more light on the specific issues of each mini-game and further interpretation of user interactions. The current study managed to provide interesting insights into the game design elements, integration of Augmented Reality, tangible interaction of the system, and on how elderly players perceive and use those interaction components. 

  2. Preliminary tests in skull pediatric phantom for dosimetry in computerized tomography

    International Nuclear Information System (INIS)

    Martins, Elaine Wirney; Potiens, Maria da Penha de A.

    2014-01-01

    Computed tomography (CT) is one of the techniques in the field of radiology with striking technological advance in recent years. One reason for this was the increased number of channels associated with the increased power of the X-ray tube. These conditions allowed the equipment high speed in the acquisition of the cuts, reducing the patient exposure time essential characteristic for the increase of its use in pediatric patients. In this context, were developed a new pediatric skull simulator to analyze the results of measurements performed in laboratory and clinic beams with the objective of creation and use of diagnostic reference levels observing risks stochastic effects and assessing the reduction of absorbed doses in patients undergoing growing. Preliminary tests performed in clinical beams showed C w values: 2.525 ± 0.212 mGy for the developed simulator quoted and 3.362 ± 0.282 mGy for a simulator developed by IPEN called standard, both being between uncertainty values of 8.4% and 14.4% suggested by TRS number 457

  3. Preliminary experimental results of tungsten wire-array Z-pinches on primary test stand

    Energy Technology Data Exchange (ETDEWEB)

    Huang, Xian-Bin; Zhou, Shao-Tong; Dan, Jia-Kun; Ren, Xiao-Dong, E-mail: amosrxd@163.com; Wang, Kun-Lun; Zhang, Si-Qun; Li, Jing; Xu, Qiang; Cai, Hong-Chun; Duan, Shu-Chao; Ouyang, Kai; Chen, Guang-Hua; Ji, Ce; Wei, Bing; Feng, Shu-Ping; Wang, Meng; Xie, Wei-Ping; Deng, Jian-Jun [Key Laboratory of Pulsed Power, Institute of Fluid Physics, China Academy of Engineering Physics, P.O. Box 919-108, Mianyang, Sichuan 621999 (China); Zhou, Xiu-Wen; Yang, Yi [Research Center of Laser Fusion, China Academy of Engineering Physics, P.O. Box 919-987, Mianyang, Sichuan 621999 (China)

    2015-07-15

    The Primary Test Stand (PTS) developed at the China Academy of Engineering Physics is a 20 TW pulsed power driver, which can deliver a ∼10 MA, 70 ns rise-time (10%–90%) current to a short-circuit load and has important applications in Z-pinch driven inertial confinement fusion and high energy density physics. Preliminary results of tungsten wire-array Z-pinch experiments on PTS are presented. The load geometries investigated include 15-mm-tall cylindrical single and nested arrays with diameter ranging from 13 mm to 30 mm, consisting of 132–300 tungsten wires with 5–10 μm in diameter. Multiple diagnostics were fielded to characterize the x-ray radiation from wire-array Z pinches. The x-ray peak power (∼50 TW) and total radiated energy (∼500 kJ) were obtained from a single 20-mm-diam array with 80-ns stagnation time. The highest x-ray peak power up to 80 TW with 2.4 ns FWHM was achieved by using a nested array with 20-mm outer diameter, and the total x-ray energy from the nested array is comparable to that of single array. Implosion velocity estimated from the time-resolved image measurement exceeds 30 cm/μs. The detailed experimental results and other findings are presented and discussed.

  4. Preliminary Report: DESiGN and Test Result of KSR-3 Rocket Magnetometers

    Directory of Open Access Journals (Sweden)

    Hyo-Min Kim

    2000-12-01

    Full Text Available The solar wind contributes to the formation of unique space environment called the Earth's magnetosphere by various interactions with the Earth's magnetic field. Thus the solar-terrestrial environment affects the Earth's magnetic field, which can be observed with an instrument for the magnetic field measurement, the magnetometer usually mounted on the rocket and the satellite and based on the ground observatory. The magnetometer is a useful instrument for the spacecraft attitude control as well as the Earth's magnetic field measurements for a scientific purpose. In this paper, we present the preliminary design and test results of the two onboard magnetometers of KARI's (Korea Aerospace Research Institute sounding rocket, KSR-3, which will be launched four times during the period of 2001-02. The KSR-3 magnetometers consist of the fluxgate magnetometer, MAG/AIM (Attitude Information Magnetometer for acquiring the rocket flight attitude information, and of the search-coil magnetometer, MAG/SIM (Scientific Investigation Magnetometer for the observation of the Earth's magnetic field fluctuations. With the MAG/AIM, the 3-axis attitude information can be acquired by the comparison of the resulting dc magnetic vector field with the IGRF (International Geomagnetic Reference Field. The Earth's magnetic field fluctuations ranging from 10 to 1,000 Hz can also be observed with the MAG/SIM measurement.

  5. Soda-Anthraquinone Durian (Durio Zibethinus Murr.) Rind Linerboard and Corrugated Medium Paper: A Preliminary Test

    Science.gov (United States)

    Rizal Masrol, Shaiful; Irwan Ibrahim, Mohd Halim; Adnan, Sharmiza; Mubarak Sa'adon, Amir; Ika Sukarno, Khairil; Fadrol Hisham Yusoff, Mohd

    2017-08-01

    A preliminary test was conducted to investigate the characteristics of linerboard and corrugated medium paper made from durian rind waste. Naturally dried durian rinds were pulped according to Soda-Anthraquinone (Soda-AQ) pulping process with a condition of 20% active alkali, 0.1% AQ, 7:1 liquor to material ratio, 120 minutes cooking time and 170°C cooking temperature. The linerboard and corrugated medium paper with a basis weight of 120 gsm were prepared and evaluated according to Malaysian International Organization for Standardization (MS ISO) and Technical Association of the Pulp and Paper Industry (TAPPI). The results indicate that the characteristics of durian rind linerboard are comparable with other wood or non-wood based paper and current commercial paper. However, low CMT value for corrugated medium and water absorptiveness quality for linerboard could be improved in future. Based on the bulk density (0.672 g/cm3), burst index (3.12 kPa.m2/g) and RCT (2.00 N.m2/g), the durian rind has shown a good potential and suitable as an alternative raw material source for linerboard industry.

  6. Innovative thin silicon detectors for monitoring of therapeutic proton beams: preliminary beam tests

    Science.gov (United States)

    Vignati, A.; Monaco, V.; Attili, A.; Cartiglia, N.; Donetti, M.; Fadavi Mazinani, M.; Fausti, F.; Ferrero, M.; Giordanengo, S.; Hammad Ali, O.; Mandurrino, M.; Manganaro, L.; Mazza, G.; Sacchi, R.; Sola, V.; Staiano, A.; Cirio, R.; Boscardin, M.; Paternoster, G.; Ficorella, F.

    2017-12-01

    To fully exploit the physics potentials of particle therapy in delivering dose with high accuracy and selectivity, charged particle therapy needs further improvement. To this scope, a multidisciplinary project (MoVeIT) of the Italian National Institute for Nuclear Physics (INFN) aims at translating research in charged particle therapy into clinical outcome. New models in the treatment planning system are being developed and validated, using dedicated devices for beam characterization and monitoring in radiobiological and clinical irradiations. Innovative silicon detectors with internal gain layer (LGAD) represent a promising option, overcoming the limits of currently used ionization chambers. Two devices are being developed: one to directly count individual protons at high rates, exploiting the large signal-to-noise ratio and fast collection time in small thicknesses (1 ns in 50 μm) of LGADs, the second to measure the beam energy with time-of-flight techniques, using LGADs optimized for excellent time resolutions (Ultra Fast Silicon Detectors, UFSDs). The preliminary results of first beam tests with therapeutic beam will be presented and discussed.

  7. A soft wearable robot for the shoulder: Design, characterization, and preliminary testing.

    Science.gov (United States)

    O'Neill, Ciaran T; Phipps, Nathan S; Cappello, Leonardo; Paganoni, Sabrina; Walsh, Conor J

    2017-07-01

    In this paper, we present a soft wearable robot for the shoulder which has the potential to assist individuals suffering from a range of neuromuscular conditions affecting the shoulder to perform activities of daily living. This wearable robot combines two types of soft textile pneumatic actuators which were custom developed for this particular application to support the upper arm through shoulder abduction and horizontal flexion/extension. The advantage of a textile-based approach is that the robot can be lightweight, low-profile, comfortable and non-restrictive to the wearer, and easy to don like an item of clothing. The actuator's ability to fold flat when not in use allows the robot to be almost invisible under clothing, potentially allowing the user to avoid any stigma associated with using assistive devices in public. To abduct the arm, a textilebased pneumatic actuator was developed to fit within the axilla to push the arm upwards, while a pair of smaller actuators pivot the abduction actuator to allow for horizontal extension and flexion. The individual textile actuators were experimentally evaluated before being integrated into a wearable garment. Human subject testing was performed to evaluate the ability of the robot to assist the arm by monitoring changes in biological muscle activity when comparing the robot powered on and off. Preliminary results show large reductions in muscular effort in targeted muscles, demonstrating the feasibility and promise of such a soft wearable robot for the shoulder.

  8. Preliminary Flight Results of the Microelectronics and Photonics Test Bed: NASA DR1773 Fiber Optic Data Bus Experiment

    Science.gov (United States)

    Jackson, George L.; LaBel, Kenneth A.; Marshall, Cheryl; Barth, Janet; Seidleck, Christina; Marshall, Paul

    1998-01-01

    NASA Goddard Spare Flight Center's (GSFC) Dual Rate 1773 (DR1773) Experiment on the Microelectronic and Photonic Test Bed (MPTB) has provided valuable information on the performance of the AS 1773 fiber optic data bus in the space radiation environment. Correlation of preliminary experiment data to ground based radiation test results show the AS 1773 bus is employable in future spacecraft applications requiring radiation tolerant communication links.

  9. The Generalized Higher Criticism for Testing SNP-Set Effects in Genetic Association Studies

    Science.gov (United States)

    Barnett, Ian; Mukherjee, Rajarshi; Lin, Xihong

    2017-01-01

    It is of substantial interest to study the effects of genes, genetic pathways, and networks on the risk of complex diseases. These genetic constructs each contain multiple SNPs, which are often correlated and function jointly, and might be large in number. However, only a sparse subset of SNPs in a genetic construct is generally associated with the disease of interest. In this article, we propose the generalized higher criticism (GHC) to test for the association between an SNP set and a disease outcome. The higher criticism is a test traditionally used in high-dimensional signal detection settings when marginal test statistics are independent and the number of parameters is very large. However, these assumptions do not always hold in genetic association studies, due to linkage disequilibrium among SNPs and the finite number of SNPs in an SNP set in each genetic construct. The proposed GHC overcomes the limitations of the higher criticism by allowing for arbitrary correlation structures among the SNPs in an SNP-set, while performing accurate analytic p-value calculations for any finite number of SNPs in the SNP-set. We obtain the detection boundary of the GHC test. We compared empirically using simulations the power of the GHC method with existing SNP-set tests over a range of genetic regions with varied correlation structures and signal sparsity. We apply the proposed methods to analyze the CGEM breast cancer genome-wide association study. Supplementary materials for this article are available online. PMID:28736464

  10. Teaching about genetic testing issues in the undergraduate classroom: a case study.

    Science.gov (United States)

    Rogers, Jill Cellars; Taylor, Ann T S

    2011-06-01

    Educating undergraduates about current genetic testing and genomics can involve novel and creative teaching practices. The higher education literature describes numerous pedagogical approaches in the laboratory designed to engage science and liberal arts students. Often these experiences involve students analyzing their own genes for various polymorphisms, some of which are associated with disease states such as an increased risk for developing cancer. While the literature acknowledges possible ethical ramifications of such laboratory exercises, authors do not present recommendations or rubrics for evaluating whether or not the testing is, in fact, ethical. In response, we developed a laboratory investigation and discussion which allowed undergraduate science students to explore current DNA manipulation techniques to isolate their p53 gene, followed by a dialogue probing the ethical implications of examining their sample for various polymorphisms. Students never conducted genotyping on their samples because of ethical concerns, so the discussion served to replace actual genetic testing in the class. A basic scientist led the laboratory portion of the assignment. A genetic counselor facilitated the discussion, which centered around existing ethical guidelines for clinical genetic testing and possible challenges of human genotyping outside the medical setting. In their final papers, students demonstrated an understanding of the practice guidelines established by the genetics community and acknowledged the ethical considerations inherent in p53 genotyping. Given the burgeoning market for personalized medicine, teaching undergraduates about the psychosocial and ethical dimensions of human gene testing seems important and timely, and introduces an additional role genetic counselors can play in educating consumers about genomics.

  11. Hopes and Expectations Regarding Genetic Testing for Schizophrenia Among Young Adults at Clinical High-Risk for Psychosis.

    Science.gov (United States)

    Friesen, Phoebe; Lawrence, Ryan E; Brucato, Gary; Girgis, Ragy R; Dixon, Lisa

    2016-11-01

    Genetic tests for schizophrenia could introduce both risks and benefits. Little is known about the hopes and expectations of young adults at clinical high-risk for psychosis concerning genetic testing for schizophrenia, despite the fact that these youth could be among those highly affected by such tests. We conducted semistructured interviews with 15 young adults at clinical high-risk for psychosis to ask about their interest, expectations, and hopes regarding genetic testing for schizophrenia. Most participants reported a high level of interest in genetic testing for schizophrenia, and the majority said they would take such a test immediately if it were available. Some expressed far-reaching expectations for a genetic test, such as predicting symptom severity and the timing of symptom onset. Several assumed that genetic testing would be accompanied by interventions to prevent schizophrenia. Participants anticipated mixed reactions on finding out they had a genetic risk for schizophrenia, suggesting that they might feel both a sense of relief and a sense of hopelessness. We suggest that genetic counseling could play an important role in counteracting a culture of genetic over-optimism and helping young adults at clinical high-risk for psychosis understand the limitations of genetic testing. Counseling sessions could also invite individuals to explore how receiving genetic risk information might impact their well-being, as early evidence suggests that some psychological factors help individuals cope, whereas others heighten distress related to genetic test results.

  12. Experimental study of sodium droplet burning in free fall. Evaluation of preliminary test results

    International Nuclear Information System (INIS)

    Miyahara, Shinya; Ara, Kuniaki

    1998-08-01

    To study a sodium leak and combustion behavior phenomenologically and to construct the mechanistic evaluation method, an experimental series of a sodium droplet burning in free fall is under way. In this study, the accuracy of measurement technique used in the preliminary test was assessed and the modified technique was proposed for the next test series. Analytical study of the test results was also conducted to deduce dominant parameters and important measurement items which would play an important role in the droplet combustion behavior. The results and conclusions are as follows: (1) Assessment of measurement accuracy and modified technique proposed for the next test series. a) Control accuracy of sodium supply system using β-alumina solid electrolyte was sufficient for generation of objective size of single droplet. However, it is necessary to calibrate the correlation between the quantity of electric charge for sodium supply system and that of supplied sodium. b) Measurement accuracy of falling velocity using high-speed video was ±0.33 m/s at an upper part and ±0.48 m/s at a lower part of the measurement. To reduce the error, a high-speed stroboscopic method is recommended to measure the falling velocity of droplet. (2) Results of analytical study and deduced dominant parameters and important measurement items. a) The falling behavior of a burning droplet was described solving the equation of free falling motion for a rigid sphere. In the case of higher falling height, it is necessary to study the burning effects on the falling behavior. b) The mass burned of a falling droplet was calculated using the combustion model according to 'D 2 ' law during the full burning phase. It is necessary to study the dominant chemical reaction in the burning flame because the mass burned depends on the composition of the reaction products. c) The mass burned was calculated using surface oxidation model for preignition phase together with above model. However, it is

  13. [Direct to consumer genetic testing: is it the moment?].

    Science.gov (United States)

    Lamoril, Jérôme; Bogard, Marc

    2016-01-01

    Since the development of new human genome sequencing technologies at the beginning of the 2000, commercial companies have developped direct to consumer genomic services, which means without medical prescription. From 2007 to 2013, many companies have offered services assesing associated risk with human public health in the world especially in the United States. This kind of company is forbidden in France. From 2009 to 2013, in United States, under the pressure of national or state health administrations, these companies have been progressively forbidden. However, in certain parts of the world, companies are still offering such services. The latter raise many different questions such as ethical, juridical, medical, scientific, educative, professional one. Many studies and debates have demonstrated their limit and the lack of usefulness and advantage in the field of human health for the time being. The commercialization of this type of services has arrived all too soon et is not yet ripe. In our time of globalization, with the lack of international rules controlling direct access to genetic services in the field of human health, there is an urgent need to regulate. International administrations and politicians must act fast. Inevitably, under the pressure of lobbies and citizens, companies (multinational or not) will develop especially as 1) new sequencing technologies evolve rapidly, 2) are cheaper from year to year, 3) scientific and medical knowledges are progressing quickly, 4) services are spreading faster through the web and other networks.

  14. Scintigraphic test of gastric emptying and motility: preliminary results in patients with chronic gastritis

    Energy Technology Data Exchange (ETDEWEB)

    Hausmann, T. [Abt. Nuklearmedizin und Spezielle Biophysik, Medizinische Hochschule Hannover (Germany); Mueller-Schauenburg, W. [Abt. Nuklearmedizin, Univ. Tuebingen (Germany); Goeke, M. [Abt. Gastroenterologie und Hepatologie, Medizinische Hochschule Hannover (Germany); Luebeck, M. [Abt. Nuklearmedizin, Univ.-Krankenhaus Eppendorf, Hamburg (Germany); Gratz, K.F. [Abt. Nuklearmedizin und Spezielle Biophysik, Medizinische Hochschule Hannover (Germany); Meier, P. [Abt. Gastroenterologie und Hepatologie, Medizinische Hochschule Hannover (Germany); Manns, M. [Abt. Gastroenterologie und Hepatologie, Medizinische Hochschule Hannover (Germany); Hundeshagen, H. [Abt. Nuklearmedizin und Spezielle Biophysik, Medizinische Hochschule Hannover (Germany)

    1995-11-01

    To record gastric peristalsis using a conventional scintigraphic gastric emptying test the frame rate was increased to 1 frame per 3 s at 10, 30, and 50 min postprandially. The gastric contraction frequency was obtained from the first harmonic of a Fourier transform of a gastric region of interest (ROI) curve. The propagation of gastric contractions was better revealed from computed functional images of the phase and amplitude distribution as compared with the multiple scintigraphic images. The maximal count-rate changes per pixel were calculated as an estimate of the most prominent regional contractile activity of the gastric wall. Among 12 patients with chronic gastritis the group with more severe dyspeptic complaints (n = 6) had significantly higher count-rate changes per pixel when compared with the group with minor complaints (20.0, 21.1 and 14.2 vs 12.9, 12.0, and 10.4 counts/pixel X s at 10, 30, and 50 min. respectively; p < 0.05). The mean half-times of gastric emptying (61, SD 11 vs 54, SD 13 min) and the mean gastric contraction frequencies (2.99, SD 0.19; 3.09, SD 0.33; 3.07, SD 0.10 vs 3.15, SD 0.15; 3.17, SD 0.13; 3.23, SD 0.20 cycles/min at 10, 30, and 50 min, respectively) did not show significant differences between both groups. Our preliminary results agree with the hypothesis of the occurrence of more powerful, nonexpulsive gastric-wall contractions in patients with more severe dyspeptic complaints. Hence, additional quantification of gastric motility allowed a more detailed evaluation of gastric-motor-activity disorders that were for so long not accessible to conventional gastric-emptying tests. (orig.)

  15. Scintigraphic test of gastric emptying and motility: preliminary results in patients with chronic gastritis

    International Nuclear Information System (INIS)

    Hausmann, T.; Mueller-Schauenburg, W.; Goeke, M.; Luebeck, M.; Gratz, K.F.; Meier, P.; Manns, M.; Hundeshagen, H.

    1995-01-01

    To record gastric peristalsis using a conventional scintigraphic gastric emptying test the frame rate was increased to 1 frame per 3 s at 10, 30, and 50 min postprandially. The gastric contraction frequency was obtained from the first harmonic of a Fourier transform of a gastric region of interest (ROI) curve. The propagation of gastric contractions was better revealed from computed functional images of the phase and amplitude distribution as compared with the multiple scintigraphic images. The maximal count-rate changes per pixel were calculated as an estimate of the most prominent regional contractile activity of the gastric wall. Among 12 patients with chronic gastritis the group with more severe dyspeptic complaints (n = 6) had significantly higher count-rate changes per pixel when compared with the group with minor complaints (20.0, 21.1 and 14.2 vs 12.9, 12.0, and 10.4 counts/pixel X s at 10, 30, and 50 min. respectively; p < 0.05). The mean half-times of gastric emptying (61, SD 11 vs 54, SD 13 min) and the mean gastric contraction frequencies (2.99, SD 0.19; 3.09, SD 0.33; 3.07, SD 0.10 vs 3.15, SD 0.15; 3.17, SD 0.13; 3.23, SD 0.20 cycles/min at 10, 30, and 50 min, respectively) did not show significant differences between both groups. Our preliminary results agree with the hypothesis of the occurrence of more powerful, nonexpulsive gastric-wall contractions in patients with more severe dyspeptic complaints. Hence, additional quantification of gastric motility allowed a more detailed evaluation of gastric-motor-activity disorders that were for so long not accessible to conventional gastric-emptying tests. (orig.)

  16. Preliminary development of an advanced modular pressure relief cushion: Testing and user evaluation.

    Science.gov (United States)

    Freeto, Tyler; Mitchell, Steven J; Bogie, Kath M

    2018-02-01

    Effective pressure relief cushions are identified as a core assistive technology need by the World Health Organization Global Cooperation on Assistive Technology. High quality affordable wheelchair cushions could provide effective pressure relief for many individuals with limited access to advanced assistive technology. Value driven engineering (VdE) principles were employed to develop a prototype modular cushion. Low cost dynamically responsive gel balls were arranged in a close packed array and seated in bilayer foam for containment and support. Two modular cushions, one with high compliance balls and one with moderate compliance balls were compared with High Profile and Low Profile Roho ® and Jay ® Medical 2 cushions. ISO 16480-2 biomechanical standardized tests were applied to assess cushion performance. A preliminary materials cost analysis was carried out. A prototype modular cushion was evaluated by 12 participants who reported satisfaction using a questionnaire based on the Quebec User Evaluation of Satisfaction with Assistive Technology (QUEST 2.0) instrument. Overall the modular cushions performed better than, or on par with, the most widely prescribed commercially available cushions under ISO 16480-2 testing. Users rated the modular cushion highly for overall appearance, size and dimensions, comfort, safety, stability, ease of adjustment and general ease of use. Cost-analysis indicated that every modular cushion component a could be replaced several times and still maintain cost-efficacy over the complete cushion lifecycle. A VdE modular cushion has the potential provide effective pressure relief for many users at a low lifetime cost. Copyright © 2017. Published by Elsevier Ltd.

  17. Genome-Wide SNP Discovery, Genotyping and Their Preliminary Applications for Population Genetic Inference in Spotted Sea Bass (Lateolabrax maculatus.

    Directory of Open Access Journals (Sweden)

    Juan Wang

    Full Text Available Next-generation sequencing and the collection of genome-wide single-nucleotide polymorphisms (SNPs allow identifying fine-scale population genetic structure and genomic regions under selection. The spotted sea bass (Lateolabrax maculatus is a non-model species of ecological and commercial importance and widely distributed in northwestern Pacific. A total of 22 648 SNPs was discovered across the genome of L. maculatus by paired-end sequencing of restriction-site associated DNA (RAD-PE for 30 individuals from two populations. The nucleotide diversity (π for each population was 0.0028±0.0001 in Dandong and 0.0018±0.0001 in Beihai, respectively. Shallow but significant genetic differentiation was detected between the two populations analyzed by using both the whole data set (FST = 0.0550, P < 0.001 and the putatively neutral SNPs (FST = 0.0347, P < 0.001. However, the two populations were highly differentiated based on the putatively adaptive SNPs (FST = 0.6929, P < 0.001. Moreover, a total of 356 SNPs representing 298 unique loci were detected as outliers putatively under divergent selection by FST-based outlier tests as implemented in BAYESCAN and LOSITAN. Functional annotation of the contigs containing putatively adaptive SNPs yielded hits for 22 of 55 (40% significant BLASTX matches. Candidate genes for local selection constituted a wide array of functions, including binding, catalytic and metabolic activities, etc. The analyses with the SNPs developed in the present study highlighted the importance of genome-wide genetic variation for inference of population structure and local adaptation in L. maculatus.

  18. Environmental Contamination Genetic Consequences Monitoring on the Former Semipalatinsk Test Site: General Approach

    International Nuclear Information System (INIS)

    Seisebaev, A.T.; Bakhtin, M.M.; Zhapbasov, R.Zh.

    1998-01-01

    For an objective assessment of nuclear test consequences for the environment it is necessary, together with the investigation of radiation situation, to study live biological systems, particularly the genetic effects of chronic ionizing radiation. The long staying of plants and animals on the territories with the elevated radiation background level can lead to the change of organism genetic system. In this connection the monitoring of chronically exposed natural populations is of particular interest and can serve as the objective indicator of the scale of natural biota genetic damage. Basing on the results obtained during plant and animal studies one can indirectly assess the hazard of people genetic damage. Besides, studying the mutational process on natural populations exposed to the chronic ionizing radiation one can reveal new regularities, which are impossible to be detected in the laboratory conditions, and new aspects of radiation genetics. The issue of radiation adaptation of organisms affected by the various doses of ionizing radiation is very acute. The prerequisite of organism adaptation to the certain radiation background is genetic heterogeneity of individuals comprising the population and selection of radiation-induced individuals, which are the carriers of the mutation of high radioresistance. The uniqueness of the Semipalatinsk Test site and the necessity of long-term investigations of the nuclear test consequences for the environment demand the elaboration of principles for organization and utilization of natural population genetic monitoring. Radiation-genetic monitoring is the long-term observation of palpitation gene pool conditions, assessment and forecast of their spatial and time alteration, determination of limits of changes admitted under the condition of environmental radioactive contamination. It includes a series of the main research directions and has quite certain methodological peculiarities. In this paper we discuss the tasks of

  19. Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.

    Science.gov (United States)

    2012-04-06

    Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. Under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) regulations, laboratory testing is categorized on the basis of the level of testing complexity as either waived (i.e., from routine regulatory oversight) or nonwaived testing (which includes tests of moderate and high complexity). Laboratories that perform biochemical genetic testing are required by CLIA regulations to meet the general quality systems requirements for nonwaived testing and the personnel requirements for high-complexity testing. Laboratories that perform public health newborn screening are subject to the same CLIA regulations and applicable state requirements. As the number of inherited metabolic diseases that are included in state-based newborn screening programs continues to increase, ensuring the quality of performance and delivery of testing services remains a continuous challenge not only for public health laboratories and other newborn screening facilities but also for biochemical genetic testing laboratories. To help ensure the quality of laboratory testing, CDC collaborated with the Centers for Medicare & Medicaid Services, the Food and Drug Administration, the Health Resources and Services Administration, and the National Institutes of Health to develop guidelines for laboratories to meet CLIA requirements and apply additional quality assurance measures for these areas of genetic testing. This report provides recommendations for good laboratory practices that were developed based on recommendations from the Clinical Laboratory Improvement Advisory Committee, with additional input from the Secretary's Advisory Committee on Genetics, Health, and Society; the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; and representatives of newborn

  20. A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands.

    Science.gov (United States)

    Weinreich, Stephanie S; Bosma, Astrid; Henneman, Lidewij; Rigter, Tessel; Spruijt, Carla M J; Grimbergen, Anneliese J E M A; Breuning, Martijn H; de Koning, Eelco J P; Losekoot, Monique; Cornel, Martina C

    2015-01-01

    Genetic testing for maturity-onset diabetes of the young (MODY) may be relevant for treatment and prognosis in patients with usually early-onset, non-ketotic, insulin-sensitive diabetes and for monitoring strategies in non-diabetic mutation carriers. This study describes the first 10 years of genetic testing for MODY in The Netherlands in terms of volume and test positive rate, medical setting, purpose of the test and age of patients tested. Some analyses focus on the most prevalent subtype, HNF1A MODY. Data were retrospectively extracted from a laboratory database. In total, 502 individuals were identified with a pathogenic mutation in HNF4A, GCK or HNF1A between 2001 and 2010. Although mutation scanning for MODY was used at an increasing rate, cascade testing was only used for one relative, on average, per positive index patient. Testing for HNF1A MODY was mostly requested by internists and paediatricians, often from regional hospitals. Primary care physicians and clinical geneticists rarely requested genetic testing for HNF1A MODY. Clinical geneticists requested cascade testing relatively more often than other health professionals. A substantial proportion (currently 29%) of HNF1A MODY probands was at least 40 years old at the time of testing. In conclusion, the number of individuals genetically tested for MODY so far in The Netherlands is low compared with previously predicted numbers of patients. Doctors' valuation of the test and patients' and family members' response to (an offer of) genetic testing on the other hand need to be investigated. Efforts may be needed to develop and implement translational guidelines.

  1. Frameworks of Choice : Predictive and Genetic Testing in Asia

    NARCIS (Netherlands)

    2010-01-01

    Frameworks of Choice verkent de culturele en politieke aspecten van voorspellende en genetische tests. Het boek analyseert de sociale, culturele, en economische gevolgen voor het individu na een voorspellende of genetische screening. Margaret Sleeboom-Faulkner geeft een genuanceerd beeld van de

  2. Ethical, legal and social implications of prenatal and preimplantation genetic testing for cancer susceptibility.

    Science.gov (United States)

    Wang, C-W; Hui, E C

    2009-01-01

    With the progress in cancer genetics and assisted reproductive technologies, it is now possible for cancer gene mutation carriers not only to reduce cancer mortality through the targeting of surveillance and preventive therapies, but also to avoid the birth of at-risk babies through the choice of different means of reproduction. Thus, the incidence of hereditary cancer syndromes may be decreased in the future. The integration of cancer genetic testing and assisted reproductive technologies raises certain ethical, legal and social issues beyond either genetic testing or assisted reproductive technology itself. In this paper, the reproductive decisions/choices of at-risk young couples and the ethical, legal and social concerns of prenatal genetic testing and preimplantation genetic diagnosis for susceptibility to hereditary cancer syndromes are discussed. Specifically, three ethical principles related to the integration of cancer genetic testing and assisted reproductive technologies, i.e. informed choice, beneficence to children and social justice, and their implications for the responsible translation of these medical techniques into common practice of preventive medicine are highlighted.

  3. A preliminary study of genetic factors that influence susceptibility to bovine tuberculosis in the British cattle herd.

    Directory of Open Access Journals (Sweden)

    Erin E Driscoll

    2011-04-01

    Full Text Available Associations between specific host genes and susceptibility to Mycobacterial infections such as tuberculosis have been reported in several species. Bovine tuberculosis (bTB impacts greatly the UK cattle industry, yet genetic predispositions have yet to be identified. We therefore used a candidate gene approach to study 384 cattle of which 160 had reacted positively to an antigenic skin test ('reactors'. Our approach was unusual in that it used microsatellite markers, embraced high breed diversity and focused particularly on detecting genes showing heterozygote advantage, a mode of action often overlooked in SNP-based studies. A panel of neutral markers was used to control for population substructure and using a general linear model-based approach we were also able to control for age. We found that substructure was surprisingly weak and identified two genomic regions that were strongly associated with reactor status, identified by markers INRA111 and BMS2753. In general the strength of association detected tended to vary depending on whether age was included in the model. At INRA111 a single genotype appears strongly protective with an overall odds ratio of 2.2, the effect being consistent across nine diverse breeds. Our results suggest that breeding strategies could be devised that would appreciably increase genetic resistance of cattle to bTB (strictly, reduce the frequency of incidence of reactors with implications for the current debate concerning badger-culling.

  4. Trends and Gaps in Awareness of Direct-to-Consumer Genetic Tests From 2007 to 2014.

    Science.gov (United States)

    Apathy, Nate C; Menser, Terri; Keeran, Lindsay M; Ford, Eric W; Harle, Christopher A; Huerta, Timothy R

    2018-06-01

    Direct-to-consumer genetic tests for inherited disease risks have gained recent approvals from the Food and Drug Administration, and interest in these tests has continued to grow. Broad use of these tests coupled with planning and discussion with health providers regarding genetic risks and potential protective behavior changes have been proposed as preventive tools to reduce health disparities and improve equity in health outcomes. However, awareness of direct-to-consumer genetic testing has historically demonstrated differences by education, income, and race; these disparities could jeopardize potential benefits by limiting access and use. The national survey data from the Health Information National Trends Survey was analyzed to understand how overall awareness of direct-to-consumer genetic testing and disparities in awareness across sociodemographic groups have changed since 2007. The findings showed persistent disparities, as well as a widening gap in awareness between Hispanics and non-Hispanic whites (OR 2007 =1.52, OR 2014 =0.58, p change =0.0056), despite overall increases in awareness over time. Given these findings, policies regulating direct-to-consumer genetic tests should prioritize equitable distribution of benefits by including provisions that counteract prevailing disparities in awareness. Copyright © 2018 American Journal of Preventive Medicine. Published by Elsevier Inc. All rights reserved.

  5. Genetic testing for patients with renal disease: procedures, pitfalls, and ethical considerations.

    Science.gov (United States)

    Korf, B R

    1999-07-01

    The Human Genome Project is rapidly producing insights into the molecular basis of human genetic disorders. The most immediate clinical benefit is the advent of new diagnostic methods. Molecular diagnostic tools are available for several genetic renal disorders and are in development for many more. Two general approaches to molecular diagnosis are linkage-based testing and direct mutation detection. The former is used when the gene has not been cloned but has been mapped in relation to polymorphic loci. Linkage-based testing is also helpful when a large diversity of mutations makes direct detection difficult. Limitations include the need to study multiple family members, the need for informative polymorphisms, and genetic heterogeneity. Direct mutation detection is limited by genetic heterogeneity and the need to distinguish nonpathogenic allelic variants from pathogenic mutations. Molecular testing raises a number of complex ethical issues, including those associated with prenatal or presymptomatic diagnosis. In addition, there are concerns about informed consent, privacy, genetic discrimination, and technology transfer for newly developed tests. Health professionals need to be aware of the technical and ethical implications of these new methods of testing, as well as the complexities in test interpretation, as molecular approaches are increasingly integrated into medical practice.

  6. You want to do what? My mother's choice to have direct-to-consumer genetic testing.

    Science.gov (United States)

    Varga, Elizabeth A

    2012-06-01

    As a genetic counselor, I had mixed opinions when my mother told me of her intent to undergo genomewide, SNP-based direct-to-consumer (DTC) genetic testing. I cautioned her that results could be misleading, could increase anxiety and were often of limited clinical validity or utility. I warned of the possibility of learning unintended health information and expressed concerns about how the information might be used by a private company. I told her about the variability in results among companies. Yet, she persisted in her desire, reminding me that she was an informed consumer. After reviewing her goals and understanding of the information she might receive, she elected to proceed. Despite my insistence that I would not be her personal genetic counselor, when the results came back, I found myself immersed in her genetic data. In this manuscript, I will examine how this personal experience challenged my perceptions of DTC testing.

  7. Estimation of γ irradiation induced genetic damage by Ames test

    International Nuclear Information System (INIS)

    Hosoda, Eiko

    1999-01-01

    Mutation by 60 Co γ irradiation was studied in five different histidine-requiring auxotrophs of Salmonella typhimurium. The strains TA98 (sensitive to frameshift) and TA100 (sensitive to base-pair substitution) were irradiated (10-84 Gy and 45-317 Gy, respectively) and revertants were counted. TA98 exhibited radiation-induced revertants, 2.8 fold of spontaneous revertants, although no significant increase was detected in TA100. Then, three other frameshift-sensitive strains TA1537, TA1538 and TA94 were irradiated in a dose of 61-167 Gy. Only in TA94, revertants increased 3.5 fold. Since spontaneous revertants are known to be independent of cell density, a decrease of bacterial number by γ irradiation was confirmed not to affect the induced revertants by dilution test. Thus the standard Ames Salmonella assay identified γ irradiation was confirmed not to affect the induced revertants by dilution test. Thus the standard Ames Salmonella assay identified γ irradiation as a mutagenetic agent. The mutagenicity of dinitropyrene, a mutagen widely existing in food, and dismutagenicity of boiling water insoluble fraction of Hizikia fusiforme, edible marine alga, were tested on γ induced revertant formation in TA98 and TA94. Dinitropyrene synergistically increased γ induced revertants and Hizikia insoluble fraction reduced the synergistic effect of dinitropyrene dependently on the concentration. (author)

  8. Merits and pitfalls of genetic testing in a hypertrophic cardiomyopathy clinic.

    Science.gov (United States)

    Arad, Michael; Monserrat, Lorenzo; Haron-Khun, Shiraz; Seidman, Jonathan G; Seidman, Christine E; Arbustini, Eloisa; Glikson, Michael; Freimark, Dov

    2014-11-01

    Hypertrophic cardiomyopathy (HCM) is a familial disease with autosomal dominant inheritance and age-dependent penetrance, caused primarily by mutations of sarcomere genes. Because the clinical variability of HCM is related to its genetic heterogeneity, genetic studies may improve the diagnosis and prognostic evaluation in HCM. To analyze the impact of genetic diagnosis on the clinical management of HCM. Genetic studies were performed for either research or clinical reasons. Once the disease-causing mutation was identified, the management plan was reevaluated. Family members were invited to receive genetic counseling and encouraged to be tested for the mutation. Ten mutations in sarcomere protein genes were identified in 9 probands: 2 novel and 8 previously described. Advanced heart failure or sudden death in a young person prompted the genetic study in 8 of the 9 families. Of 98 relatives available for genotyping, only 53 (54%) agreed to be tested. The compliance was higher in families with sudden death and lower in what appeared to be sporadic HCM or elderly-onset disease. Among the healthy we identified 9 carriers and 19 non-carriers. In 6 individuals the test result resolved an uncertainty about "possible HCM." In several cases the genetic result was also used for family planning and played a role in decisions on cardioverter-defibrillator implantation. Recurrence of a same mutation in different families created an opportunity to apply the information from the literature for risk stratification of individual patients. We suggest that the clinical context determines the indication for genetic testing and interpretation of the results.

  9. Reader reaction on the generalized Kruskal-Wallis test for genetic association studies incorporating group uncertainty.

    Science.gov (United States)

    Wu, Baolin; Guan, Weihua

    2015-06-01

    Acar and Sun (2013, Biometrics 69, 427-435) presented a generalized Kruskal-Wallis (GKW) test for genetic association studies that incorporated the genotype uncertainty and showed its robust and competitive performance compared to existing methods. We present another interesting way to derive the GKW test via a rank linear model. © 2014, The International Biometric Society.

  10. Reader Reaction On the generalized Kruskal-Wallis test for genetic association studies incorporating group uncertainty

    OpenAIRE

    Wu, Baolin; Guan, Weihua

    2014-01-01

    Acar and Sun (2013, Biometrics, 69, 427-435) presented a generalized Kruskal-Wallis (GKW) test for genetic association studies that incorporated the genotype uncertainty and showed its robust and competitive performance compared to existing methods. We present another interesting way to derive the GKW test via a rank linear model.

  11. What factors impact upon a woman’s decision to undertake genetic cancer testing?

    Directory of Open Access Journals (Sweden)

    Julie Anne Quinlivan

    2014-01-01

    Full Text Available Introduction: The advent of human genome project has lead to genetic tests that identify high-risk states for certain cancers. Many are privately marketed on the Internet. Despite the availability of tests, limited data has evaluated factors that lead to test uptake. The aim of the present study was to explore the attitudes of a cohort of new mothers towards uptake of a genetic cancer test with a 50% predictive value of cancer.Methods: A cross-sectional survey was undertaken. The project targeted women who had recently given birth at an Australian tertiary referral hospital. Women were asked about a theoretical blood test that detected an increased risk for the development of cancer. Attitudes and knowledge questionnaires were completed. Results: Of 232 consecutive women approached, 32 declined, giving a response rate of 86.2%. Only 63 (31.5% women stated they would have the test. Absence of religious belief, higher level of education, better knowledge of terms used in genetics, an absence of concern over emotional, employment and insurance discrimination and previous acceptance of Down syndrome screening in pregnancy were each associated with significantly higher rate of test uptake in univariate analysis (all pConclusion: Concern over discrimination and having made a prior decision to have genetic testing were the principal factors associated with decision-making.

  12. Genetic Counseling and Cardiac Care in Predictively Tested Hypertrophic Cardiomyopathy Mutation Carriers: The Patients' Perspective

    NARCIS (Netherlands)

    Christiaans, Imke; van Langen, Irene M.; Birnie, Erwin; Bonsel, Gouke J.; Wilde, Arthur A. M.; Smets, Ellen M. A.

    2009-01-01

    Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease associated with sudden cardiac death. predictive genetic counseling and testing are performed using adapted Huntington guidelines, that is, psychosocial care and time for reflection are not obligatory and the test result can be

  13. Socioeconomic influences on the effects of a genetic testing direct-to-consumer marketing campaign.

    Science.gov (United States)

    Bowen, D J; Harris, J; Jorgensen, C M; Myers, M F; Kuniyuki, A

    2010-01-01

    Direct-to-consumer marketing of genetic tests is beginning to appear in select markets, and little independent evaluation has been conducted on the effects of this marketing on consumer attitudes or behavior. The purpose of this paper is to identify the effects of socioeconomic status on women's reactions to such a campaign, including knowledge of the test, perceptions of personal risk, communications with others about the test, and interest in pursuing the test. The only United States provider of genetic testing for breast and ovarian cancer susceptibility (BRCA1/2 testing) conducted a pilot marketing campaign that targeted women aged 25-54 and their health care providers in 2 cities, Atlanta, Ga., and Denver, Colo. The design for the evaluation was a post campaign consumer survey, based on a cross-sectional stratified random sample of women in the 2 intervention sites and 2 comparison sites. The campaign had no differential impact by socioeconomic status. However, there was a consistent relationship between socioeconomic status and several outcome variables, including knowledge of the test, beliefs about the test, and desire to know about genetic risk. These data indicate that socioeconomic status may play a role in uptake of genetic services, regardless of response to a media campaign. Copyright 2009 S. Karger AG, Basel.

  14. Attitudes about Future Genetic Testing for Posttraumatic Stress Disorder and Addiction among Community-Based Veterans

    Directory of Open Access Journals (Sweden)

    Michelle R. Lent

    2017-05-01

    Full Text Available This study explored attitudes toward hypothetical genetic testing for posttraumatic stress disorder (PTSD and addiction among veterans. We surveyed a random sample of community-based veterans (n = 700 by telephone. One year later, we asked the veterans to provide a DNA sample for analysis and 41.9% of them returned the DNA samples. Overall, most veterans were not interested in genetic testing neither for PTSD (61.7% nor for addiction (68.7%. However, bivariate analyses suggested there was an association between having the condition of interest and the likelihood of genetic testing on a 5-point scale (p < 0.001 for PTSD; p = 0.001 for alcohol dependence. While ordinal regressions confirmed these associations, the models with the best statistical fit were bivariate models of whether the veteran would likely test or not. Using logistic regressions, significant predictors for PTSD testing were receiving recent mental health treatment, history of a concussion, younger age, having PTSD, having alcohol dependence, currently taking opioids for pain, and returning the DNA sample during the follow-up. For addiction testing, significant predictors were history of concussion, younger age, psychotropic medication use, having alcohol dependence, and currently taking opioids for pain. Altogether, 25.9% of veterans reported that they would have liked to have known their genetic results before deployment, 15.6% reported after deployment, and 58.6% reported they did not want to know neither before nor after deployment. As advancements in genetic testing continue to evolve, our study suggests that consumer attitudes toward genetic testing for mental disorders are complex and better understanding of these attitudes and beliefs will be crucial to successfully promote utilization.

  15. Preliminary test of cigarette nicotine discrimination threshold in non-dependent versus dependent smokers.

    Science.gov (United States)

    Perkins, Kenneth A; Kunkle, Nicole; Karelitz, Joshua L; Perkins, K A; Kunkle, N; Karelitz, J L

    2017-06-01

    Despite its potential for understanding tobacco dependence, behavioral discrimination of nicotine via smoking has not been formally examined as a function of nicotine dependence level. Spectrum research cigarettes were used to compare non-dependent with dependent smokers on the lowest content of nicotine they could discriminate (i.e., "threshold"). Dependent (n=21; 16M, 5F) or non-dependent (n=7; 4M, 3F) smokers were tested on ability to discriminate between cigarettes with nicotine contents of 17, 11, 5, 2, and 1mg/g, one per session, from an "ultra-low" cigarette with 0.4mg/g (all had 9-10mg "tar"). All abstained from smoking overnight prior to sessions, and number of sessions was determined by the lowest nicotine content they could reliably discriminate from the ultra-low on >80% of trials (i.e., ≥5 of 6). Subjective perceptions and cigarette choice behavior were also assessed and related to discrimination behavior. Discrimination thresholds (and most perceptions) did not differ between dependent and non-dependent smokers, with median thresholds of 11mg/g for both subgroups. Yet, "liking" and puff choice for threshold cigarettes were greater in dependent but not non-dependent smokers, while cigarettes with nicotine contents below threshold did not support "liking" or choice in both groups. In sum, this preliminary study suggests threshold for discriminating nicotine via smoking may not vary by dependence level, and further study is needed to confirm that cigarettes unable to be discriminated are also not reinforcing. Copyright © 2017 Elsevier B.V. All rights reserved.

  16. Decisional Outcomes of Maternal Disclosure of BRCA1/2 Genetic Test Results to Children

    Science.gov (United States)

    Tercyak, Kenneth P.; Mays, Darren; DeMarco, Tiffani A.; Peshkin, Beth N.; Valdimarsdottir, Heiddis B.; Schneider, Katherine A.; Garber, Judy E.; Patenaude, Andrea Farkas

    2013-01-01

    Background Although BRCA1/2 genetic testing is discouraged in minors, mothers may disclose their own results to their children. Factors affecting patients’ disclosure decisions and patient outcomes of disclosure are largely unknown. Methods Mothers (N = 221) of children ages 8-21 enrolled in this prospective study of family communication about cancer genetic testing. Patients underwent BRCA1/2 genetic counseling and testing, and completed standardized behavioral assessments prior to and 1-month following receipt of their results. Results Most patients (62.4%) disclosed BRCA1/2 test results to their child. Patients were more likely to disclose if they received negative or uninformative vs. positive results (OR = 3.11; 95% CI = 1.11 - 8.71; P = .03), their child was ≥ 13 years of age vs. younger (OR = 5.43; 95% CI = 2.18 - 13.53; P Post-decision satisfaction about disclosure was lowest among nondisclosing patients (P information is perceived as beneficial. Satisfaction with disclosure decision-making remains lowest among nondisclosing and conflicted patients. Family communication decision support adjuncts to genetic counseling are needed to help ameliorate these effects. Impact This study describes the prevalence of family communication about maternal BRCA1/2 genetic testing with minor children, and decisions and outcomes of disclosure. PMID:23825307

  17. Revealing barriers and facilitators to use a new genetic test: comparison of three user involvement methods.

    Science.gov (United States)

    Rhebergen, Martijn D F; Visser, Maaike J; Verberk, Maarten M; Lenderink, Annet F; van Dijk, Frank J H; Kezic, Sanja; Hulshof, Carel T J

    2012-10-01

    We compared three common user involvement methods in revealing barriers and facilitators from intended users that might influence their use of a new genetic test. The study was part of the development of a new genetic test on the susceptibility to hand eczema for nurses. Eighty student nurses participated in five focus groups (n = 33), 15 interviews (n = 15) or questionnaires (n = 32). For each method, data were collected until saturation. We compared the mean number of items and relevant remarks that could influence the use of the genetic test obtained per method, divided by the number of participants in that method. Thematic content analysis was performed using MAXQDA software. The focus groups revealed 30 unique items compared to 29 in the interviews and 21 in the questionnaires. The interviews produced more items and relevant remarks per participant (1.9 and 8.4 pp) than focus groups (0.9 and 4.8 pp) or questionnaires (0.7 and 2.3 pp). All three involvement methods revealed relevant barriers and facilitators to use a new genetic test. Focus groups and interviews revealed substantially more items than questionnaires. Furthermore, this study suggests a preference for the use of interviews because the number of items per participant was higher than for focus groups and questionnaires. This conclusion may be valid for other genetic tests as well.

  18. [Genetic predisposition to breast and ovarian cancer: importance of test results].

    Science.gov (United States)

    Julian-Reynier, Claire

    2011-01-01

    Oncogenetic consultations and predictive BRCA1/2 testing are intertwined processes and the specific impact of these genetic tests if performed alone through direct-to-consumer offers remains unknown. Noteworthy, the expectations of patients vary with their own status, whether they are affected or not by breast cancer at the time genetic testing is performed. The prescription of genetic tests for BCRA mutations has doubled in France between 2003 and 2009. There is a consensus on the fact that genetic results disclosure led to a significant increase in the knowledge and understanding that the patients have of the genetic risk and also changed the medical follow-up of these patients. Evaluating the psychological burden of tests disclosure did not reveal any major distress in patients who are followed by high-quality multidisciplinary teams. Longitudinal cohorts studies have now evaluated the perception and behaviour of these patients, and observed sociodemographic as well as geographic and psychosocial differences both in the acceptation of prophylactic strategies such as surgery, and time to surgery. © 2011 médecine/sciences - Inserm / SRMS.

  19. A case report of Fanconi anemia diagnosed by genetic testing followed by prenatal diagnosis.

    Science.gov (United States)

    Lee, Hwa Jeen; Park, Seungman; Kang, Hyoung Jin; Jun, Jong Kwan; Lee, Jung Ae; Lee, Dong Soon; Park, Sung Sup; Seong, Moon-Woo

    2012-09-01

    Fanconi anemia (FA) is a rare genetic disorder affecting multiple body systems. Genetic testing, including prenatal testing, is a prerequisite for the diagnosis of many clinical conditions. However, genetic testing is complicated for FA because there are often many genes that are associated with its development, and large deletions, duplications, or sequence variations are frequently found in some of these genes. This study describes successful genetic testing for molecular diagnosis, and subsequent prenatal diagnosis, of FA in a patient and his family in Korea. We analyzed all exons and flanking regions of the FANCA, FANCC, and FANCG genes for mutation identification and subsequent prenatal diagnosis. Multiplex ligation-dependent probe amplification analysis was performed to detect large deletions or duplications in the FANCA gene. Molecular analysis revealed two mutations in the FANCA gene: a frameshift mutation c.2546delC and a novel splice-site mutation c.3627-1G>A. The FANCA mutations were separately inherited from each parent, c.2546delC was derived from the father, whereas c.3627-1G>A originated from the mother. The amniotic fluid cells were c.3627-1G>A heterozygotes, suggesting that the fetus was unaffected. This is the first report of genetic testing that was successfully applied to molecular diagnosis of a patient and subsequent prenatal diagnosis of FA in a family in Korea.

  20. Exploring dispositional tendencies to seek online information about direct-to-consumer genetic testing.

    Science.gov (United States)

    Paquin, Ryan S; Richards, Adam S; Koehly, Laura M; McBride, Colleen M

    2012-12-01

    Varying perspectives exist regarding the implications of genetic susceptibility testing for common disease, with some anticipating adverse effects and others expecting positive outcomes; however, little is known about the characteristics of people who are most likely to be interested in direct-to-consumer genetic testing. To that end, this study examines the association of individual dispositional differences with health risk perceptions and online information seeking related to a free genetic susceptibility test. Healthy adults enrolled in a large health maintenance organization were surveyed by telephone. Eligible participants (N = 1,959) were given access to a secure website that provided risk and benefit information about a genetic susceptibility test and given the option to be tested. Neuroticism was associated with increased perceptions of disease risk but not with logging on. Those scoring high in conscientiousness were more likely to log on. We found no evidence that neuroticism, a dispositional characteristic commonly linked to adverse emotional response, was predictive of online genetic information seeking in this sample of healthy adults.

  1. Should Australia Ban the Use of Genetic Test Results in Life Insurance?

    Science.gov (United States)

    Tiller, Jane; Otlowski, Margaret; Lacaze, Paul

    2017-01-01

    Under current Australian regulation, life insurance companies can require applicants to disclose all genetic test results, including results from research or direct-to-consumer tests. Life insurers can then use this genetic information in underwriting and policy decisions for mutually rated products, including life, permanent disability, and total income protection insurance. Over the past decade, many countries have implemented moratoria or legislative bans on the use of genetic information by life insurers. The Australian government, by contrast, has not reviewed regulation since 2005 when it failed to ensure implementation of recommendations made by the Australian Law Reform Commission. In that time, the Australian life insurance industry has been left to self-regulate its use of genetic information. As a result, insurance fears in Australia now are leading to deterred uptake of genetic testing by at-risk individuals and deterred participation in medical research, both of which have been documented. As the potential for genomic medicine grows, public trust and engagement are critical for successful implementation. Concerns around life insurance may become a barrier to the development of genomic health care, research, and public health initiatives in Australia, and the issue should be publicly addressed. We argue a moratorium on the use of genetic information by life insurers should be enacted while appropriate longer term policy is determined and implemented.

  2. Should Australia Ban the Use of Genetic Test Results in Life Insurance?

    Directory of Open Access Journals (Sweden)

    Jane Tiller

    2017-12-01

    Full Text Available Under current Australian regulation, life insurance companies can require applicants to disclose all genetic test results, including results from research or direct-to-consumer tests. Life insurers can then use this genetic information in underwriting and policy decisions for mutually rated products, including life, permanent disability, and total income protection insurance. Over the past decade, many countries have implemented moratoria or legislative bans on the use of genetic information by life insurers. The Australian government, by contrast, has not reviewed regulation since 2005 when it failed to ensure implementation of recommendations made by the Australian Law Reform Commission. In that time, the Australian life insurance industry has been left to self-regulate its use of genetic information. As a result, insurance fears in Australia now are leading to deterred uptake of genetic testing by at-risk individuals and deterred participation in medical research, both of which have been documented. As the potential for genomic medicine grows, public trust and engagement are critical for successful implementation. Concerns around life insurance may become a barrier to the development of genomic health care, research, and public health initiatives in Australia, and the issue should be publicly addressed. We argue a moratorium on the use of genetic information by life insurers should be enacted while appropriate longer term policy is determined and implemented.

  3. A population-based survey in Australia of men's and women's perceptions of genetic risk and predictive genetic testing and implications for primary care.

    Science.gov (United States)

    Taylor, S

    2011-01-01

    Community attitudes research regarding genetic issues is important when contemplating the potential value and utilisation of predictive testing for common diseases in mainstream health services. This article aims to report population-based attitudes and discuss their relevance to integrating genetic services in primary health contexts. Men's and women's attitudes were investigated via population-based omnibus telephone survey in Queensland, Australia. Randomly selected adults (n = 1,230) with a mean age of 48.8 years were interviewed regarding perceptions of genetic determinants of health; benefits of genetic testing that predict 'certain' versus 'probable' future illness; and concern, if any, regarding potential misuse of genetic test information. Most (75%) respondents believed genetic factors significantly influenced health status; 85% regarded genetic testing positively although attitudes varied with age. Risk-based information was less valued than certainty-based information, but women valued risk information significantly more highly than men. Respondents reported 'concern' (44%) and 'no concern' (47%) regarding potential misuse of genetic information. This study contributes important population-based data as most research has involved selected individuals closely impacted by genetic disorders. While community attitudes were positive regarding genetic testing, genetic literacy is important to establish. The nature of gender differences regarding risk perception merits further study and has policy and service implications. Community concern about potential genetic discrimination must be addressed if health benefits of testing are to be maximised. Larger questions remain in scientific, policy, service delivery, and professional practice domains before predictive testing for common disorders is efficacious in mainstream health care. Copyright © 2011 S. Karger AG, Basel.

  4. Ethical issues of genetic susceptibility testing for occupational diseases: opinions of trainees in a high-risk job

    NARCIS (Netherlands)

    Visser, M. J.; Rhebergen, M. D. F.; Kezic, S.; van Dijk, F. J. H.; Willems, D. L.; Verberk, M. M.

    2013-01-01

    Genetic research has opened up possibilities for identification of persons with an increased susceptibility for occupational disease. However, regulations considering the ethical issues that are inevitably associated with the use of genetic tests for susceptibility for occupational diseases are

  5. Cost-effectiveness of MODY genetic testing: translating genomic advances into practical health applications.

    Science.gov (United States)

    Naylor, Rochelle N; John, Priya M; Winn, Aaron N; Carmody, David; Greeley, Siri Atma W; Philipson, Louis H; Bell, Graeme I; Huang, Elbert S

    2014-01-01

    OBJECTIVE To evaluate the cost-effectiveness of a genetic testing policy for HNF1A-, HNF4A-, and GCK-MODY in a hypothetical cohort of type 2 diabetic patients 25-40 years old with a MODY prevalence of 2%. RESEARCH DESIGN AND METHODS We used a simulation model of type 2 diabetes complications based on UK Prospective Diabetes Study data, modified to account for the natural history of disease by genetic subtype to compare a policy of genetic testing at diabetes diagnosis versus a policy of no testing. Under the screening policy, successful sulfonylurea treatment of HNF1A-MODY and HNF4A-MODY was modeled to produce a glycosylated hemoglobin reduction of -1.5% compared with usual care. GCK-MODY received no therapy. Main outcome measures were costs and quality-adjusted life years (QALYs) based on lifetime risk of complications and treatments, expressed as the incremental cost-effectiveness ratio (ICER) (USD/QALY). RESULTS The testing policy yielded an average gain of 0.012 QALYs and resulted in an ICER of 205,000 USD. Sensitivity analysis showed that if the MODY prevalence was 6%, the ICER would be ~50,000 USD. If MODY prevalence was >30%, the testing policy was cost saving. Reducing genetic testing costs to 700 USD also resulted in an ICER of ~50,000 USD. CONCLUSIONS Our simulated model suggests that a policy of testing for MODY in selected populations is cost-effective for the U.S. based on contemporary ICER thresholds. Higher prevalence of MODY in the tested population or decreased testing costs would enhance cost-effectiveness. Our results make a compelling argument for routine coverage of genetic testing in patients with high clinical suspicion of MODY.

  6. 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 testing (all p testing, and anticipate benefits to reducing cancer risk. Identifying factors associated with willingness-to-pay for genetic services is increasingly important as testing is integrated into routine cancer care.

  7. Patient empowerment in long-term conditions: development and preliminary testing of a new measure

    Science.gov (United States)

    2013-01-01

    Background Patient empowerment is viewed by policy makers and health care practitioners as a mechanism to help patients with long-term conditions better manage their health and achieve better outcomes. However, assessing the role of empowerment is dependent on effective measures of empowerment. Although many measures of empowerment exist, no measure has been developed specifically for patients with long-term conditions in the primary care setting. This study presents preliminary data on the development and validation of such a measure. Methods We conducted two empirical studies. Study one was an interview study to understand empowerment from the perspective of patients living with long-term conditions. Qualitative analysis identified dimensions of empowerment, and the qualitative data were used to generate items relating to these dimensions. Study two was a cross-sectional postal study involving patients with different types of long-term conditions recruited from general practices. The survey was conducted to test and validate our new measure of empowerment. Factor analysis and regression were performed to test scale structure, internal consistency and construct validity. Results Sixteen predominately elderly patients with different types of long-term conditions described empowerment in terms of 5 dimensions (identity, knowledge and understanding, personal control, personal decision-making, and enabling other patients). One hundred and ninety seven survey responses were received from mainly older white females, with relatively low levels of formal education, with the majority retired from paid work. Almost half of the sample reported cardiovascular, joint or diabetes long-term conditions. Factor analysis identified a three factor solution (positive attitude and sense of control, knowledge and confidence in decision making and enabling others), although the structure lacked clarity. A total empowerment score across all items showed acceptable levels of internal

  8. Identifying genetic marker sets associated with phenotypes via an efficient adaptive score test

    KAUST Repository

    Cai, T.

    2012-06-25

    In recent years, genome-wide association studies (GWAS) and gene-expression profiling have generated a large number of valuable datasets for assessing how genetic variations are related to disease outcomes. With such datasets, it is often of interest to assess the overall effect of a set of genetic markers, assembled based on biological knowledge. Genetic marker-set analyses have been advocated as more reliable and powerful approaches compared with the traditional marginal approaches (Curtis and others, 2005. Pathways to the analysis of microarray data. TRENDS in Biotechnology 23, 429-435; Efroni and others, 2007. Identification of key processes underlying cancer phenotypes using biologic pathway analysis. PLoS One 2, 425). Procedures for testing the overall effect of a marker-set have been actively studied in recent years. For example, score tests derived under an Empirical Bayes (EB) framework (Liu and others, 2007. Semiparametric regression of multidimensional genetic pathway data: least-squares kernel machines and linear mixed models. Biometrics 63, 1079-1088; Liu and others, 2008. Estimation and testing for the effect of a genetic pathway on a disease outcome using logistic kernel machine regression via logistic mixed models. BMC bioinformatics 9, 292-2; Wu and others, 2010. Powerful SNP-set analysis for case-control genome-wide association studies. American Journal of Human Genetics 86, 929) have been proposed as powerful alternatives to the standard Rao score test (Rao, 1948. Large sample tests of statistical hypotheses concerning several parameters with applications to problems of estimation. Mathematical Proceedings of the Cambridge Philosophical Society, 44, 50-57). The advantages of these EB-based tests are most apparent when the markers are correlated, due to the reduction in the degrees of freedom. In this paper, we propose an adaptive score test which up- or down-weights the contributions from each member of the marker-set based on the Z-scores of

  9. Efficient preliminary floating offshore wind turbine design and testing methodologies and application to a concrete spar design

    OpenAIRE

    Matha, Denis; Sandner, Frank; Molins i Borrell, Climent; Campos Hortigüela, Alexis; Cheng, Po Wen

    2015-01-01

    The current key challenge in the floating offshore wind turbine industry and research is on designing economic floating systems that can compete with fixed-bottom offshore turbines in terms of levelized cost of energy. The preliminary platform design, as well as early experimental design assessments, are critical elements in the overall design process. In this contribution, a brief review of current floating offshore wind turbine platform pre-design and scaled testing methodologies is provide...

  10. Preliminary results of ecotoxicological assessment of an Acid Mine Drainage (AMD) passive treatment system testing water quality of depurated lixiviates

    OpenAIRE

    Miguel Sarmiento, Aguasanta; Bonnail, Estefanía; Nieto Liñán, José Miguel; Valls Casillas, Tomás Ángel del

    2017-01-01

    The current work reports on the preliminary results of a toxicity test using screening experiments to check the efficiency of an innovative passive treatment plant designed for acid mine drainage purification. Bioassays took place with water samples before and after the treatment system and in the river, once treated water is discharged. Due to the high toxicity of the water collected at the mouth of the mine (before the treatment plant), the bioassay was designed and developed with respect t...

  11. Concerns about Genetic Testing for Schizophrenia among Young Adults at Clinical High Risk for Psychosis.

    Science.gov (United States)

    Lawrence, Ryan E; Friesen, Phoebe; Brucato, Gary; Girgis, Ragy R; Dixon, Lisa

    Genetic tests for schizophrenia may introduce risks and benefits. Among young adults at clinical high-risk for psychosis, little is known about their concerns and how they assess potential risks. We conducted semi-structured interviews with 15 young adults at clinical high-risk for psychosis to ask about their concerns. Participants expressed concerns about test reliability, data interpretation, stigma, psychological harm, family planning, and privacy. Participants' responses showed some departure from the ethics literature insofar as participants were primarily interested in reporting their results to people to whom they felt emotionally close, and expressed little consideration of biological closeness. Additionally, if tests showed an increased genetic risk for schizophrenia, four clinical high-risk persons felt obligated to tell an employer and another three would "maybe" tell an employer, even in the absence of clinical symptoms. These findings suggest opportunities for clinicians and genetic counselors to intervene with education and support.

  12. Covariance Association Test (CVAT) Identifies Genetic Markers Associated with Schizophrenia in Functionally Associated Biological Processes

    DEFF Research Database (Denmark)

    Rohde, Palle Duun; Demontis, Ditte; Castro Dias Cuyabano, Beatriz

    2016-01-01

    was among the top performers. When extending CVAT to utilize a mixture of SNP effects, we found an increase in power to detect the causal sets. Applying the methods to a Danish schizophrenia case–control data set, we found genomic evidence for association of schizophrenia with vitamin A metabolism......Schizophrenia is a psychiatric disorder with large personal and social costs, and understanding the genetic etiology is important. Such knowledge can be obtained by testing the association between a disease phenotype and individual genetic markers; however, such single-marker methods have limited...... genomic best linear unbiased prediction (GBLUP), the covariance association test (CVAT). We compared the performance of CVAT to other commonly used set tests. The comparison was conducted using a simulated study population having the same genetic parameters as for schizophrenia. We found that CVAT...

  13. Preliminary test results from a telescope of Hughes pixel arrays at FNAL

    International Nuclear Information System (INIS)

    Jernigan, J.G.; Arens, J.; Vezie, D.; Collins, T.; Krider, J.; Skubic, P.

    1992-09-01

    In December of 1991 three silicon hybrid pixel detectors each having 2.56 x 2.56 pixels 30 μm square, made by the Hughes Aircraft Company, were placed in a high energy muon beam at the Fermi National Accelerator Laboratory. Straight tracks were recorded in these detectors at angles to the normal to the plane of the silicon ranging from 0 to 45 degrees. In this note, preliminary results are presented on the straight through tracks, i.e., those passing through the telescope at normal incidence. Pulse height data, signal-to-noise data, and preliminary straight line fits to the data resulting in residual distributions are presented. Preliminary calculations show spatial resolution of less than 5 μm in two dimensions

  14. Cost-Effectiveness Analysis of Different Genetic Testing Strategies for Lynch Syndrome in Taiwan.

    Directory of Open Access Journals (Sweden)

    Ying-Erh Chen

    Full Text Available Patients with Lynch syndrome (LS have a significantly increased risk of developing colorectal cancer (CRC and other cancers. Genetic screening for LS among patients with newly diagnosed CRC aims to identify mutations in the disease-causing genes (i.e., the DNA mismatch repair genes in the patients, to offer genetic testing for relatives of the patients with the mutations, and then to provide early prevention for the relatives with the mutations. Several genetic tests are available for LS, such as DNA sequencing for MMR genes and tumor testing using microsatellite instability and immunohistochemical analyses. Cost-effectiveness analyses of different genetic testing strategies for LS have been performed in several studies from different countries such as the US and Germany. However, a cost-effectiveness analysis for the testing has not yet been performed in Taiwan. In this study, we evaluated the cost-effectiveness of four genetic testing strategies for LS described in previous studies, while population-specific parameters, such as the mutation rates of the DNA mismatch repair genes and treatment costs for CRC in Taiwan, were used. The incremental cost-effectiveness ratios based on discounted life years gained due to genetic screening were calculated for the strategies relative to no screening and to the previous strategy. Using the World Health Organization standard, which was defined based on Taiwan's Gross Domestic Product per capita, the strategy based on immunohistochemistry as a genetic test followed by BRAF mutation testing was considered to be highly cost-effective relative to no screening. Our probabilistic sensitivity analysis results also suggest that the strategy has a probability of 0.939 of being cost-effective relative to no screening based on the commonly used threshold of $50,000 to determine cost-effectiveness. To the best of our knowledge, this is the first cost-effectiveness analysis for evaluating different genetic testing

  15. What is the role of genetic testing in movement disorders practice?

    Science.gov (United States)

    Schneider, Susanne A; Klein, Christine

    2011-08-01

    Genetic testing holds many promises in movement disorders, but also pitfalls that require careful consideration for meaningful results. These include the primary indication for testing in the first place, concerns regarding the implications of symptomatic, presymptomatic, and susceptibility testing, the mutation frequency in the gene of interest, the general lack of neuroprotective treatment options for neurodegenerative movement disorders, the prognosis of the condition diagnosed, and patient confidentiality concerns. Furthermore, new technical achievements and the available technical expertise, feasibility of specific gene testing, and its coverage through a health insurance carrier should be considered. Guidelines for testing have been established by some disease societies to advise clinicians and in parallel legal regulations are being adjusted at a national and international level. We review these and other critical points and recent developments regarding genetic testing in the field of movement disorders.

  16. An audit of clinical service examining the uptake of genetic testing by at-risk family members.

    Science.gov (United States)

    Forrest, Laura; Delatycki, Martin; Curnow, Lisette; Gen Couns, M; Skene, Loane; Aitken, Maryanne

    2012-01-01

    The aim of this study was to investigate the uptake of genetic testing by at-risk family members for four genetic conditions: chromosomal translocations, fragile X syndrome, Huntington disease, and spinal muscular atrophy. A clinical audit was undertaken using genetics files from Genetic Health Services Victoria. Data were extracted from the files regarding the number of at-risk family members and the proportion tested. Information was also collected about whether discussion of at-risk family members and family communication during the genetic consultation was recorded. The proportion of at-risk family members who had genetic testing ranged from 11% to 18%. First-degree family members were most frequently tested and the proportion of testing decreased by degree of relatedness to the proband. Smaller families were significantly more likely to have genetic testing for all conditions except Huntington disease. Female at-risk family members were significantly more likely to have testing for fragile X syndrome. The majority of at-risk family members do not have genetic testing. Family communication is likely to influence the uptake of genetic testing by at-risk family members and therefore it is important that families are supported while communicating to ensure that at-risk family members are able to make informed decisions about genetic testing.

  17. The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges

    Directory of Open Access Journals (Sweden)

    Benjamin John Landis

    2016-07-01

    Full Text Available Human cardiovascular malformations (CVMs frequently have a genetic contribution. Through the application of novel technologies such as next generation sequencing, DNA sequence variants associated with CVMs are being identified at a rapid pace. While clinicians are now able to offer testing with next generation sequencing gene panels or whole exome sequencing to any patient with a CVM, the interpretation of genetic variation remains problematic. Variable phenotypic expression, reduced penetrance, inconsistent phenotyping methods, and the lack of high throughput functional testing of variants, contribute to these challenges. This article elaborates critical issues that impact the decision to broadly implement clinical molecular genetic testing in CVMs. Major benefits of testing include establishing a genetic diagnosis, facilitating cost-effective screening of family members who may have subclinical disease, predicting recurrence risk in offspring, enabling early diagnosis and anticipatory management of CV and non-CV disease phenotypes, predicting long term outcomes, and facilitating the development of novel therapies aimed at disease improvement or prevention. Limitations include financial cost, psychosocial cost, and ambiguity of interpretation of results. Multiplex families and patients with syndromic features are two groups where disease causation could potentially be firmly established. However, these account for the minority of the overall CVM population, and there is increasing recognition that genotypes previously associated with syndromes also exist in patients who lack non-CV findings. In all circumstances, ongoing dialogue between cardiologists and clinical geneticists will be needed to accurately interpret genetic testing and improve these patients’ health. This may be most effectively implemented by the creation and support of CV genetics services at centers committed to pursuing testing for patients.

  18. Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement.

    Science.gov (United States)

    Webborn, Nick; Williams, Alun; McNamee, Mike; Bouchard, Claude; Pitsiladis, Yannis; Ahmetov, Ildus; Ashley, Euan; Byrne, Nuala; Camporesi, Silvia; Collins, Malcolm; Dijkstra, Paul; Eynon, Nir; Fuku, Noriyuki; Garton, Fleur C; Hoppe, Nils; Holm, Søren; Kaye, Jane; Klissouras, Vassilis; Lucia, Alejandro; Maase, Kamiel; Moran, Colin; North, Kathryn N; Pigozzi, Fabio; Wang, Guan

    2015-12-01

    The general consensus among sport and exercise genetics researchers is that genetic tests have no role to play in talent identification or the individualised prescription of training to maximise performance. Despite the lack of evidence, recent years have witnessed the rise of an emerging market of direct-to-consumer marketing (DTC) tests that claim to be able to identify children's athletic talents. Targeted consumers include mainly coaches and parents. There is concern among the scientific community that the current level of knowledge is being misrepresented for commercial purposes. There remains a lack of universally accepted guidelines and legislation for DTC testing in relation to all forms of genetic testing and not just for talent identification. There is concern over the lack of clarity of information over which specific genes or variants are being tested and the almost universal lack of appropriate genetic counselling for the interpretation of the genetic data to consumers. Furthermore independent studies have identified issues relating to quality control by DTC laboratories with different results being reported from samples from the same individual. Consequently, in the current state of knowledge, no child or young athlete should be exposed to DTC genetic testing to define or alter training or for talent identification aimed at selecting gifted children or adolescents. Large scale collaborative projects, may help to develop a stronger scientific foundation on these issues in the future. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  19. A Generalized Kruskal-Wallis Test Incorporating Group Uncertainty with Application to Genetic Association Studies

    OpenAIRE

    Acar, Elif F.; Sun, Lei

    2012-01-01

    Motivated by genetic association studies of SNPs with genotype uncertainty, we propose a generalization of the Kruskal-Wallis test that incorporates group uncertainty when comparing k samples. The extended test statistic is based on probability-weighted rank-sums and follows an asymptotic chi-square distribution with k-1 degrees of freedom under the null hypothesis. Simulation studies confirm the validity and robustness of the proposed test in finite samples. Application to a genome-wide asso...

  20. Metabologenomics of Phaeochromocytoma and Paraganglioma: An Integrated Approach for Personalised Biochemical and Genetic Testing.

    Science.gov (United States)

    Eisenhofer, Graeme; Klink, Barbara; Richter, Susan; Lenders, Jacques Wm; Robledo, Mercedes

    2017-04-01

    The tremendous advances over the past two decades in both clinical genetics and biochemical testing of chromaffin cell tumours have led to new considerations about how these aspects of laboratory medicine can be integrated to improve diagnosis and management of affected patients. With germline mutations in 15 genes now identified to be responsible for over a third of all cases of phaeochromocytomas and paragangliomas, these tumours are recognised to have one of the richest hereditary backgrounds among all neoplasms. Depending on the mutation, tumours show distinct differences in metabolic pathways that relate to or even directly impact clinical presentation. At the same time, there has been improved understanding about how catecholamines are synthesised, stored, secreted and metabolised by chromaffin cell tumours. Although the tumours may not always secrete catecholamines it has become clear that almost all continuously produce and metabolise catecholamines. This has not only fuelled changes in laboratory medicine, but has also assisted in recognition of genotype-biochemical phenotype relationships important for diagnostics and clinical care. In particular, differences in catecholamine and energy pathway metabolomes can guide genetic testing, assist with test interpretation and provide predictions about the nature, behaviour and imaging characteristics of the tumours. Conversely, results of genetic testing are important for guiding how routine biochemical testing should be employed and interpreted in surveillance programmes for at-risk patients. In these ways there are emerging needs for modern laboratory medicine to seamlessly integrate biochemical and genetic testing into the diagnosis and management of patients with chromaffin cell tumours.

  1. A fast multilocus test with adaptive SNP selection for large-scale genetic-association studies

    KAUST Repository

    Zhang, Han

    2013-09-11

    As increasing evidence suggests that multiple correlated genetic variants could jointly influence the outcome, a multilocus test that aggregates association evidence across multiple genetic markers in a considered gene or a genomic region may be more powerful than a single-marker test for detecting susceptibility loci. We propose a multilocus test, AdaJoint, which adopts a variable selection procedure to identify a subset of genetic markers that jointly show the strongest association signal, and defines the test statistic based on the selected genetic markers. The P-value from the AdaJoint test is evaluated by a computationally efficient algorithm that effectively adjusts for multiple-comparison, and is hundreds of times faster than the standard permutation method. Simulation studies demonstrate that AdaJoint has the most robust performance among several commonly used multilocus tests. We perform multilocus analysis of over 26,000 genes/regions on two genome-wide association studies of pancreatic cancer. Compared with its competitors, AdaJoint identifies a much stronger association between the gene CLPTM1L and pancreatic cancer risk (6.0 × 10(-8)), with the signal optimally captured by two correlated single-nucleotide polymorphisms (SNPs). Finally, we show AdaJoint as a powerful tool for mapping cis-regulating methylation quantitative trait loci on normal breast tissues, and find many CpG sites whose methylation levels are jointly regulated by multiple SNPs nearby.

  2. Estimation of genetic parameters for test day records of dairy traits in the first three lactations

    Directory of Open Access Journals (Sweden)

    Ducrocq Vincent

    2005-05-01

    Full Text Available Abstract Application of test-day models for the genetic evaluation of dairy populations requires the solution of large mixed model equations. The size of the (covariance matrices required with such models can be reduced through the use of its first eigenvectors. Here, the first two eigenvectors of (covariance matrices estimated for dairy traits in first lactation were used as covariables to jointly estimate genetic parameters of the first three lactations. These eigenvectors appear to be similar across traits and have a biological interpretation, one being related to the level of production and the other to persistency. Furthermore, they explain more than 95% of the total genetic variation. Variances and heritabilities obtained with this model were consistent with previous studies. High correlations were found among production levels in different lactations. Persistency measures were less correlated. Genetic correlations between second and third lactations were close to one, indicating that these can be considered as the same trait. Genetic correlations within lactation were high except between extreme parts of the lactation. This study shows that the use of eigenvectors can reduce the rank of (covariance matrices for the test-day model and can provide consistent genetic parameters.

  3. Testing positive for a genetic predisposition to depression magnifies retrospective memory for depressive symptoms.

    Science.gov (United States)

    Lebowitz, Matthew S; Ahn, Woo-Kyoung

    2017-11-01

    Depression, like other mental disorders and health conditions generally, is increasingly construed as genetically based. This research sought to determine whether merely telling people that they have a genetic predisposition to depression can cause them to retroactively remember having experienced it. U.S. adults (men and women) were recruited online to participate (Experiment 1: N = 288; Experiment 2: N = 599). After conducting a test disguised as genetic screening, we randomly assigned some participants to be told that they carried elevated genetic susceptibility to depression, whereas others were told that they did not carry this genetic liability or were told that they carried elevated susceptibility to a different disorder. Participants then rated their experience of depressive symptoms over the prior 2 weeks on a modified version of the Beck Depression Inventory-II. Participants who were told that their genes predisposed them to depression generally reported higher levels of depressive symptomatology over the previous 2 weeks, compared to those who did not receive this feedback. Given the central role of self-report in psychiatric diagnosis, these findings highlight potentially harmful consequences of personalized genetic testing in mental health. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  4. Medical and lay attitudes towards genetic screening and testing in Finland

    DEFF Research Database (Denmark)

    Toiviainen, Hanna; Jallinoja, Piia; Aro, Arja R

    2003-01-01

    The purpose of this study was to compare physicians', midwives' and lay people's attitudes towards genetic screening and testing to find out whether medical education and experience influence attitudes of genetic screening and testing. The study was based on comparison of answers to joint questions...... in three different cross-sectional postal surveys between October 1996 and April 1998 in Finland. Target groups were physicians (study base n=772, response rate 74%, including gynaecologists, paediatricians, general practitioners and clinical geneticists), midwives and public health nurses (collectively...

  5. Social contract theory and just decision making: lessons from genetic testing for the BRCA mutations.

    Science.gov (United States)

    Williams-Jones, Bryn; Burgess, Michael M

    2004-06-01

    Decisions about funding health services are crucial to controlling costs in health care insurance plans, yet they encounter serious challenges from intellectual property protection--e.g., patents--of health care services. Using Myriad Genetics' commercial genetic susceptibility test for hereditary breast cancer (BRCA testing) in the context of the Canadian health insurance system as a case study, this paper applies concepts from social contract theory to help develop more just and rational approaches to health care decision making. Specifically, Daniel's and Sabin's "accountability for reasonableness" is compared to broader notions of public consultation, demonstrating that expert assessments in specific decisions must be transparent and accountable and supplemented by public consultation.

  6. The current social, political, and medical role of genetic testing in familial breast and ovarian carcinomas.

    Science.gov (United States)

    Weitzel, J N

    1999-02-01

    Few advances in medical science have yielded as much publicity and controversy as discoveries in genetics. Moving quickly from the bench to the bedside, genetic testing for inherited susceptibility to breast and ovarian cancer has had a significant impact on our paradigms for decisions about the treatment and prevention of disease. Assessment of cancer risk is developing into a distinct discipline, with rapidly evolving genetic technologies and models for estimating an individual's risk of cancer. Exciting developments in chemoprevention of breast cancer demonstrate the potential to offer a broader range of options for decreasing cancer risk. This article will consider recent advances in the understanding of cancer genetics, and describe the state-of-the-art in terms of management of individuals with inherited susceptibility to breast and ovarian cancer.

  7. Preliminary results of hydrologic testing of the Umtanum Basalt Fracture Zone at borehole RRL-2 (3,781 to 3,827 ft)

    International Nuclear Information System (INIS)

    Strait, S.R.; Spane, F.A. Jr.

    1983-02-01

    This report presents preliminary results and description of hydrologic test activities for the Umtanum Basalt Fracture Zone at Borehole RRL-2, within the test interval 3,781 to 3,827 feet. Hydrologic tests conducted include two short-term, constant discharge pumping tests and two slug tests. Preliminary results indicate an observed hydraulic head for the test interval of 406.7 feet above mean sea level. Transmissivity values determined from hydrologic tests performed range between 205 and 881 ft 2 /day. The best estimate of equivalent hydraulic conductivity, based on an effective test thickness of 6 feet, is 147 ft/day. 8 refs., 6 figs., 3 tabs

  8. Understanding of BRCA1/2 genetic tests results: the importance of objective and subjective numeracy.

    Science.gov (United States)

    Hanoch, Yaniv; Miron-Shatz, Talya; Rolison, Jonathan J; Ozanne, Elissa

    2014-10-01

    The majority of women (71%) who undergo BRCA1/2 testing-designed to identify genetic mutations associated with increased risk of cancer-receive results that are termed 'ambiguous' or 'uninformative negative'. How women interpret these results and the association with numerical ability was examined. In this study, 477 women at increased risk for breast and ovarian cancer were recruited via the Cancer Genetics Network. They were presented with information about the four different possible BRCA1/2 test results-positive, true negative, ambiguous and uninformative negative-and asked to indicate which of six options represents the best response. Participants were then asked which treatment options they thought a woman receiving the results should discuss with her doctor. Finally, participants completed measures of objective and subjective numeracy. Almost all of the participants correctly interpreted the positive and negative BRCA1/2 genetic test results. However, they encountered difficulties interpreting the uninformative and ambiguous BRCA1/2 genetic test results. Participants were almost equally likely to think either that the woman had learned nothing from the test result or that she was as likely to develop cancer as the average woman. Highly numerate participants were more likely to correctly interpret inconclusive test results (ambiguous, OR = 1.62; 95% CI [1.28, 2.07]; p psychological ramifications of genetic testing, healthcare professionals should consider devoting extra effort to ensuring proper comprehension of ambiguous and uninformative negative test results by women. Copyright © 2014 John Wiley & Sons, Ltd.

  9. ERG and GRG review of the draft of ''preliminary test plan for in situ testing from an exploratory shaft in salt - October 1983''

    International Nuclear Information System (INIS)

    Kalia, H.N.

    1986-03-01

    The Engineering Review Group (ERG) and Geologic Review Group (GRG) were established by the Office of Nuclear Waste Isolation (ONWI) to help evaluate engineering- and geologic-related issues in the US Department of Energy's nuclear waste repository program. The January 1984 meeting of the ERG and GRG reviewed the In Situ Test Plan (ISTP) titled ''Preliminary Test Plan for In Situ Testing From an Exploratory Shaft in Salt - October 1983.'' This report documents the ERG's and GRG's comments and recommendations on this subject and the ONWI responses to the specific points raised by the ERG and GRG. 6 refs., 2 figs., 1 tab

  10. Factors influencing and modifying the decision to pursue genetic testing for skin cancer risk.

    Science.gov (United States)

    Fogel, Alexander L; Jaju, Prajakta D; Li, Shufeng; Halpern-Felsher, Bonnie; Tang, Jean Y; Sarin, Kavita Y

    2017-05-01

    Across cancers, the decision to pursue genetic testing is influenced more by subjective than objective factors. However, skin cancer, which is more prevalent, visual, and multifactorial than many other malignancies, may offer different motivations for pursuing such testing. The primary objective was to determine factors influencing the decision to receive genetic testing for skin cancer risk. A secondary objective was to assess the impact of priming with health questions on the decision to receive testing. We distributed anonymous online surveys through ResearchMatch.org to assess participant health, demographics, motivations, and interest in pursuing genetic testing for skin cancer risk. Two surveys with identical questions but different question ordering were used to assess the secondary objective. We received 3783 responses (64% response rate), and 85.8% desired testing. Subjective factors, including curiosity, perceptions of skin cancer, and anxiety, were the most statistically significant determinants of the decision to pursue testing (P < .001), followed by history of sun exposure (odds ratio 1.85, P < .01) and history of skin cancer (odds ratio 0.5, P = .01). Age and family history of skin cancer did not influence this decision. Participants increasingly chose testing if first queried about health behaviors (P < .0001). The decision to pursue hypothetical testing may differ from in-clinic decision-making. Self-selected, online participants may differ from the general population. Surveys may be subject to response bias. The decision to pursue genetic testing for skin cancer is primarily determined by subjective factors, such as anxiety and curiosity. Health factors, including skin cancer history, also influenced decision-making. Priming with consideration of objective health factors can increase the desire to pursue testing. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  11. Preliminary Results from Second Phase Sea Testing of the Wave Dragon Prototype Wave Energy Converter

    DEFF Research Database (Denmark)

    Soerensen, Hans Chr.; Tedd, James; Friis-Madsen, Erik

    2006-01-01

    In March 2006 the prototype Wave Dragon has been redeployed to a more energetic site in Nissum Bredning an inland sea in Western Denmark. This has followed a period of renovation of many aspects of the device which have resulted in 20% higher energy output. This paper describes the preliminary...

  12. Improving Decision Making about Genetic Testing in the Clinic: An Overview of Effective Knowledge Translation Interventions.

    Science.gov (United States)

    Légaré, France; Robitaille, Hubert; Gane, Claire; Hébert, Jessica; Labrecque, Michel; Rousseau, François

    2016-01-01

    Knowledge translation (KT) interventions are attempts to change behavior in keeping with scientific evidence. While genetic tests are increasingly available to healthcare consumers in the clinic, evidence about their benefits is unclear and decisions about genetic testing are thus difficult for all parties. We sought to identify KT interventions that involved decisions about genetic testing in the clinical context and to assess their effectiveness for improving decision making in terms of behavior change, increased knowledge and wellbeing. We searched for trials assessing KT interventions in the context of genetic testing up to March 2014 in all systematic reviews (n = 153) published by two Cochrane review groups: Effective Practice and Organisation of Care (EPOC) and Consumers and Communication. We retrieved 2473 unique trials of which we retained only 28 (1%). Two EPOC reviews yielded two trials of KT interventions: audit and feedback (n = 1) and educational outreach (n = 1). Both targeted health professionals and the KT intervention they assessed was found to be effective. Four Consumers and Communication reviews yielded 26 trials: decision aids (n = 15), communication of DNA-based disease risk estimates (n = 7), personalized risk communication (n = 3) and mobile phone messaging (n = 1). Among these, 25 trials targeted only health consumers or patients and the KT interventions were found to be effective in four trials, partly effective in seven, and ineffective in four. Lastly, only one trial targeted both physicians and patients and was found to be effective. More research on the effectiveness of KT interventions regarding genetic testing in the clinical context may contribute to patients making informed value-based decisions and drawing the maximum benefit from clinical applications of genetic and genomic innovations.

  13. Improving Decision Making about Genetic Testing in the Clinic: An Overview of Effective Knowledge Translation Interventions.

    Directory of Open Access Journals (Sweden)

    France Légaré

    Full Text Available Knowledge translation (KT interventions are attempts to change behavior in keeping with scientific evidence. While genetic tests are increasingly available to healthcare consumers in the clinic, evidence about their benefits is unclear and decisions about genetic testing are thus difficult for all parties.We sought to identify KT interventions that involved decisions about genetic testing in the clinical context and to assess their effectiveness for improving decision making in terms of behavior change, increased knowledge and wellbeing.We searched for trials assessing KT interventions in the context of genetic testing up to March 2014 in all systematic reviews (n = 153 published by two Cochrane review groups: Effective Practice and Organisation of Care (EPOC and Consumers and Communication.We retrieved 2473 unique trials of which we retained only 28 (1%. Two EPOC reviews yielded two trials of KT interventions: audit and feedback (n = 1 and educational outreach (n = 1. Both targeted health professionals and the KT intervention they assessed was found to be effective. Four Consumers and Communication reviews yielded 26 trials: decision aids (n = 15, communication of DNA-based disease risk estimates (n = 7, personalized risk communication (n = 3 and mobile phone messaging (n = 1. Among these, 25 trials targeted only health consumers or patients and the KT interventions were found to be effective in four trials, partly effective in seven, and ineffective in four. Lastly, only one trial targeted both physicians and patients and was found to be effective.More research on the effectiveness of KT interventions regarding genetic testing in the clinical context may contribute to patients making informed value-based decisions and drawing the maximum benefit from clinical applications of genetic and genomic innovations.

  14. Autobiologies on YouTube: Narratives of Direct-to-Consumer Genetic Testing

    Science.gov (United States)

    Harris, Anna; Kelly, Susan E.; Wyatt, Sally

    2014-01-01

    Despite a growing personal genomics market, little is known about how people engage with the possibilities offered by direct-to-consumer (DTC) genetic testing. In order to help address this gap, this study deploys narrative analysis of YouTube videos posted by individuals who have purchased DTC genetic testing for disease. Genetic testing is said to be contributing to new states of illness, where individuals may become “patients-in-waiting.” In the videos analyzed, we found a new form of storytelling about this ambiguous state of illness, which we refer to as autobiology. Autobiology – the study of, and story about, one's own biology – concerns narratives of sense-making through forms of biological practice, as well as wayfaring narratives which interweave genetic markers and family histories of disease. These autobiologies – part of a broader shift toward public stories about genetics and other healthcare technologies – exhibit playfulness, as well as being bound with consumerist practices. PMID:24772003

  15. Influence of race/ethnicity on genetic counseling and testing for hereditary breast and ovarian cancer.

    Science.gov (United States)

    Forman, Andrea D; Hall, Michael J

    2009-01-01

    Risk assessment coupled with genetic counseling and testing for the cancer predisposition genes BRCA1 and BRCA2 (BRCA1/2) has become an integral element of comprehensive patient evaluation and cancer risk management in the United States for individuals meeting high-risk criteria for hereditary breast and ovarian cancer (HBOC). For mutation carriers, several options for risk modification have achieved substantial reductions in future cancer risk. However, several recent studies have shown lower rates of BRCA1/2 counseling and testing among minority populations. Here, we explore the role of race/ethnicity in cancer risk assessment, genetic counseling and genetic testing for HBOC and the BRCA1/2 cancer predisposition genes. Barriers to genetic services related to race/ethnicity and underserved populations, including socioeconomic barriers (e.g., time, access, geographic, language/cultural, awareness, cost) and psychosocial barriers (e.g., medical mistrust, perceived disadvantages to genetic services), as well as additional barriers to care once mutation carriers are identified, will be reviewed.

  16. Preliminary studies of tunnel interface response modeling using test data from underground storage facilities.

    Energy Technology Data Exchange (ETDEWEB)

    Sobolik, Steven Ronald; Bartel, Lewis Clark

    2010-11-01

    correctly image the tunnel. This report represents a preliminary step in the development of a methodology to convert numerical predictions of rock properties to an estimation of the extent of rock damage around an underground facility and its corresponding seismic velocity, and the corresponding application to design a testing methodology for tunnel detection.

  17. Current ethical and legal issues in health-related direct-to-consumer genetic testing.

    Science.gov (United States)

    Niemiec, Emilia; Kalokairinou, Louiza; Howard, Heidi Carmen

    2017-09-01

    A variety of health-related genetic testing is currently advertized directly to consumers. This article provides a timely overview of direct-to-consumer genetic testing (DTC GT) and salient ethical issues, as well as an analysis of the impact of the recently adopted regulation on in vitro diagnostic medical devices on DTC GT. DTC GT companies currently employ new testing approaches, report on a wide spectrum of conditions and target new groups of consumers. Such activities raise ethical issues including the questionable analytic and clinical validity of tests, the adequacy of informed consent, potentially misleading advertizing, testing in children, research uses and commercialization of genomic data. The recently adopted regulation on in vitro diagnostic medical devices may limit the offers of predisposition DTC GT in the EU market.

  18. A test sheet generating algorithm based on intelligent genetic algorithm and hierarchical planning

    Science.gov (United States)

    Gu, Peipei; Niu, Zhendong; Chen, Xuting; Chen, Wei

    2013-03-01

    In recent years, computer-based testing has become an effective method to evaluate students' overall learning progress so that appropriate guiding strategies can be recommended. Research has been done to develop intelligent test assembling systems which can automatically generate test sheets based on given parameters of test items. A good multisubject test sheet depends on not only the quality of the test items but also the construction of the sheet. Effective and efficient construction of test sheets according to multiple subjects and criteria is a challenging problem. In this paper, a multi-subject test sheet generation problem is formulated and a test sheet generating approach based on intelligent genetic algorithm and hierarchical planning (GAHP) is proposed to tackle this problem. The proposed approach utilizes hierarchical planning to simplify the multi-subject testing problem and adopts genetic algorithm to process the layered criteria, enabling the construction of good test sheets according to multiple test item requirements. Experiments are conducted and the results show that the proposed approach is capable of effectively generating multi-subject test sheets that meet specified requirements and achieve good performance.

  19. Prenatal Testing for Adult-Onset Conditions: the Position of the National Society of Genetic Counselors.

    Science.gov (United States)

    Hercher, Laura; Uhlmann, Wendy R; Hoffman, Erin P; Gustafson, Shanna; Chen, Kelly M

    2016-12-01

    Advances in genetic testing and the availability of such testing in pregnancy allows prospective parents to test their future child for adult-onset conditions. This ability raises several complex ethical issues. Prospective parents have reproductive rights to obtain information about their fetus. This information may or may not alter pregnancy management. These rights can be in conflict with the rights of the future individual, who will be denied the right to elect or decline testing. This paper highlights the complexity of these issues, details discussions that went into the National Society of Genetic Counselors (NSGC) Public Policy Task Force's development of the Prenatal testing for Adult-Onset Conditions position statement adopted in November 2014, and cites relevant literature on this topic through December 2015. Issues addressed include parental rights and autonomy, rights of the future child, the right not to know, possible adverse effects on childhood and the need for genetic counseling. This paper will serve as a reference to genetic counselors and healthcare professionals when faced with this situation in clinical practice.

  20. Against Genetic Tests for Athletic Talent: The Primacy of the Phenotype.

    Science.gov (United States)

    Loland, Sigmund

    2015-09-01

    New insights into the genetics of sport performance lead to new areas of application. One area is the use of genetic tests to identify athletic talent. Athletic performances involve a high number of complex phenotypical traits. Based on the ACCE model (review of Analytic and Clinical validity, Clinical utility, and Ethical, legal and social implications), a critique is offered of the lack of validity and predictive power of genetic tests for talent. Based on the ideal of children's right to an open future, a moral argument is given against such tests on children and young athletes. A possible role of genetic tests in sport is proposed in terms of identifying predisposition for injury. In meeting ACCE requirements, such tests could improve individualised injury prevention and increase athlete health. More generally, limitations of science are discussed in the identification of talent and in the understanding of complex human performance phenotypes. An alternative approach to talent identification is proposed in terms of ethically sensitive, systematic and evidence-based holistic observation over time of relevant phenotypical traits by experienced observers. Talent identification in sport should be based on the primacy of the phenotype.

  1. Further improvement of genetic and cytogenetic test pattern with increased relevance predicting carcinogenic and pharmacological effects

    Energy Technology Data Exchange (ETDEWEB)

    Siebert, D.

    1982-08-01

    Testing of chemicals for their genetic activity by applying only one method has the disadvantage, that the results are of limited value. However, a combination of several test systems in such a manner that the apparent difference between the results allows additional conclusions about the pharmacokinetic properties of the substances tested, the correlation between molecular mutations and cytogenetic effects and the possible carcinogenic activity. Three nitrofuran derivatives (nitrofurantoin, carofur and FANFT) tested in six different in vitro and in vivo mutagenicity tests partly showed strong genetic activity without metabolic activation and weak cytogenetic effects. However, polycyclic hydrocarbons needed mammalian metabolism to display their mutagenicity: Dimethylbenzoanthracene and benzo(a)pyrene could be activated by liver microsomes and showed also cytogenetic effects, but phenanthrene was only active in the SCE-test. Out of nine heavy metal salts potassium chromate, potassium dichromate, calcium chromate and cis-dichloro diammine-Pt(II) were effective in at least one genetic and one cytogenetic test. The correlation between mutagenic and the known carcinogenic activity of all test substances was good in the case of the hydrocarbons and the nitrofuran derivatives; the heavy metal salts, however, are of low relevance for the carcinogenicity of the metals itself.

  2. The pioneering use of ISSR (Inter Simple Sequence Repeat in Neotropical anurans: preliminary assessment of genetic diversity in populations of Physalaemus cuvieri (Amphibia, Leiuperidae

    Directory of Open Access Journals (Sweden)

    Rafaela M Moresco

    2013-01-01

    Full Text Available The greatest diversity of anurans in the world is in Brazil and one of the major challenges is to reconcile the accelerated economic development with strategies that aim to maintain this diversity in forest fragments, often representing ESUs of some biomes. This study aimed to obtain data that will support conservation projects through the pioneering use of ISSR analysis in Neotropical anurans, estimating the intra- and interpopulation genetic diversity of four populations of P. cuvieri (Paraná and São Paulo regions. Of the 65 loci scored 58 were polymorphic, with 0.797 intrapopulation variation and 0.203 interpopulation variation. The index of interpopulation genetic differentiation (Fst proved to be high among the population of Marmeleiro-PR and the three populations of SP (Fst > 0.288; genetic dissimilarity was related to the geographical distance. The ISSR proved to be efficient and useful molecular markers in comparison with other markers most widely used for preliminary diagnosis of genetic diversity in populations of amphibians, and could be applied as a tool for future conservation projects, since they could identify potential ESUs and influence decisions on the preservation of fragments.

  3. Consumers report lower confidence in their genetics knowledge following direct-to-consumer personal genomic testing.

    Science.gov (United States)

    Carere, Deanna Alexis; Kraft, Peter; Kaphingst, Kimberly A; Roberts, J Scott; Green, Robert C

    2016-01-01

    The aim of this study was to measure changes to genetics knowledge and self-efficacy following personal genomic testing (PGT). New customers of 23andMe and Pathway Genomics completed a series of online surveys. We measured genetics knowledge (nine true/false items) and genetics self-efficacy (five Likert-scale items) before receipt of results and 6 months after results and used paired methods to evaluate change over time. Correlates of change (e.g., decision regret) were identified using linear regression. 998 PGT customers (59.9% female; 85.8% White; mean age 46.9 ± 15.5 years) were included in our analyses. Mean genetics knowledge score was 8.15 ± 0.95 (out of 9) at baseline and 8.25 ± 0.92 at 6 months (P = 0.0024). Mean self-efficacy score was 29.06 ± 5.59 (out of 35) at baseline and 27.7 ± 5.46 at 6 months (P reported lower self-efficacy following PGT. Change in self-efficacy was positively associated with health-care provider consultation (P = 0.0042), impact of PGT on perceived control over one's health (P consumers in response to receiving complex genetic information.Genet Med 18 1, 65-72.

  4. Patterns of Cancer Genetic Testing: A Randomized Survey of Oregon Clinicians

    International Nuclear Information System (INIS)

    Cox, S. L.; Zlot, A. I.; Silvey, S. K.; Silvey, S. K.

    2012-01-01

    Introduction. Appropriate use of genetic tests for population-based cancer screening, diagnosis of inherited cancers, and guidance of cancer treatment can improve health outcomes. We investigated clinicians’ use and knowledge of eight breast, ovarian, and colorectal cancer genetic tests. Methods. We conducted a randomized survey of 2,191 Oregon providers, asking about their experience with fecal DNA, OncoVue, BRCA, MMR, CYP2D6, tumor gene expression profiling, UGT1A1, and KRAS. Results. Clinicians reported low confidence in their knowledge of medical genetics; most confident were OB-GYNs and specialists. Clinicians were more likely to have ordered/recommended BRCA and MMR than the other tests, and OB-GYNs were twice as likely to have ordered/recommended BRCA testing than primary care providers. Less than 10% of providers ordered/recommended OncoVue, fecal DNA, CYP2D6, or UGT1A1; less than 30% ordered/recommended tumor gene expression profiles or KRAS. The most common reason for not ordering/recommending these tests was lack of familiarity. Conclusions. Use of appropriate, evidence-based testing can help reduce incidence and mortality of certain cancers, but these tests need to be better integrated into clinical practice. Continued evaluation of emerging technologies, dissemination of findings, and an increase in provider confidence and knowledge are necessary to achieve this end.

  5. The development and preliminary testing of a multimedia patient–provider survivorship communication module for breast cancer survivors

    Science.gov (United States)

    Wen, Kuang-Yi; Miller, Suzanne M.; Stanton, Annette L.; Fleisher, Linda; Morra, Marion E.; Jorge, Alexandra; Diefenbach, Michael A.; Ropka, Mary E.; Marcus, Alfred C.

    2012-01-01

    Objective This paper describes the development of a theory-guided and evidence-based multimedia training module to facilitate breast cancer survivors’ preparedness for effective communication with their health care providers after active treatment. Methods The iterative developmental process used included: (1) theory and evidence-based content development and vetting; (2) user testing; (3) usability testing; and (4) participant module utilization. Results Formative evaluation of the training module prototype occurred through user testing (n = 12), resulting in modification of the content and layout. Usability testing (n = 10) was employed to improve module functionality. Preliminary web usage data (n = 256, mean age = 53, 94.5% White, 75% college graduate and above) showed that 59% of the participants accessed the communication module, for an average of 7 min per login. Conclusion The iterative developmental process was informative in enhancing the relevance of the communication module. Preliminary web usage results demonstrate the potential feasibility of such a program. Practice implications Our study demonstrates survivors’ openness to the use of a web-based communication skills training module and outlines a systematic iterative user and interface program development and testing process, which can serve as a prototype for others considering such an approach. PMID:22770812

  6. The development and preliminary testing of a multimedia patient-provider survivorship communication module for breast cancer survivors.

    Science.gov (United States)

    Wen, Kuang-Yi; Miller, Suzanne M; Stanton, Annette L; Fleisher, Linda; Morra, Marion E; Jorge, Alexandra; Diefenbach, Michael A; Ropka, Mary E; Marcus, Alfred C

    2012-08-01

    This paper describes the development of a theory-guided and evidence-based multimedia training module to facilitate breast cancer survivors' preparedness for effective communication with their health care providers after active treatment. The iterative developmental process used included: (1) theory and evidence-based content development and vetting; (2) user testing; (3) usability testing; and (4) participant module utilization. Formative evaluation of the training module prototype occurred through user testing (n = 12), resulting in modification of the content and layout. Usability testing (n = 10) was employed to improve module functionality. Preliminary web usage data (n = 256, mean age = 53, 94.5% White, 75% college graduate and above) showed that 59% of the participants accessed the communication module, for an average of 7 min per login. The iterative developmental process was informative in enhancing the relevance of the communication module. Preliminary web usage results demonstrate the potential feasibility of such a program. Our study demonstrates survivors' openness to the use of a web-based communication skills training module and outlines a systematic iterative user and interface program development and testing process, which can serve as a prototype for others considering such an approach. Copyright © 2012. Published by Elsevier Ireland Ltd.

  7. Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis

    NARCIS (Netherlands)

    Douma, K.F.L.; Aaronson, N.K.; Vasen, H.F.A.; Verhoef, S.; Gundy, C.M.; Bleiker, E.M.A.

    2010-01-01

    Childhood DNA testing, prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) are available for familial adenomatous polyposis (FAP). However, the use of PND and PGD is controversial. The purpose of this study was to investigate attitudes toward, and experiences with, childhood DNA

  8. Rapid genetic counseling and testing in newly diagnosed breast cancer : Surgical and psychosocial implications

    NARCIS (Netherlands)

    Wevers, M.R.

    2018-01-01

    Genetic counseling and testing for breast cancer have traditionally been offered to eligible patients after completion of their primary treatment. Women with hereditary breast cancer, caused by a germline mutation in the BRCA1 or BRCA2 gene, have an increased risk of contralateral breast cancer and

  9. A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.

    Science.gov (United States)

    Vissers, Lisenka E L M; van Nimwegen, Kirsten J M; Schieving, Jolanda H; Kamsteeg, Erik-Jan; Kleefstra, Tjitske; Yntema, Helger G; Pfundt, Rolph; van der Wilt, Gert Jan; Krabbenborg, Lotte; Brunner, Han G; van der Burg, Simone; Grutters, Janneke; Veltman, Joris A; Willemsen, Michèl A A P

    2017-09-01

    Implementation of novel genetic diagnostic tests is generally driven by technological advances because they promise shorter turnaround times and/or higher diagnostic yields. Other aspects, including impact on clinical management or cost-effectiveness, are often not assessed in detail prior to implementation. We studied the clinical utility of whole-exome sequencing (WES) in complex pediatric neurology in terms of diagnostic yield and costs. We analyzed 150 patients (and their parents) presenting with complex neurological disorders of suspected genetic origin. In a parallel study, all patients received both the standard diagnostic workup (e.g., cerebral imaging, muscle biopsies or lumbar punctures, and sequential gene-by-gene-based testing) and WES simultaneously. Our unique study design allowed direct comparison of diagnostic yield of both trajectories and provided insight into the economic implications of implementing WES in this diagnostic trajectory. We showed that WES identified significantly more conclusive diagnoses (29.3%) than the standard care pathway (7.3%) without incurring higher costs. Exploratory analysis of WES as a first-tier diagnostic test indicates that WES may even be cost-saving, depending on the extent of other tests being omitted. Our data support such a use of WES in pediatric neurology for disorders of presumed genetic origin.Genet Med advance online publication 23 March 2017.

  10. A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands

    NARCIS (Netherlands)

    Weinreich, S.S.; Bosma, A.R.; Henneman, L.; Rigter, T.; Spruijt, C.M.J.; Grimbergen, A.J.E.M.; Breuning, M.H.; de Koning, E.J.P.; Losekoot, M.; Cornel, M.C.

    2015-01-01

    Genetic testing for maturity-onset diabetes of the young (MODY) may be relevant for treatment and prognosis in patients with usually early-onset, non-ketotic, insulin-sensitive diabetes and for monitoring strategies in non-diabetic mutation carriers. This study describes the first 10 years of

  11. Beliefs about Cancer and Diet among Those Considering Genetic Testing for Colon Cancer

    Science.gov (United States)

    Palmquist, Aunchalee E. L.; Upton, Rachel; Lee, Seungjin; Panter, Abby T.; Hadley, Don W.; Koehly, Laura M.

    2011-01-01

    Objective: To assess beliefs about the role of diet in cancer prevention among individuals considering genetic testing for Lynch Syndrome. Design: Family-centered, cascade recruitment; baseline assessment of a longitudinal study. Setting: Clinical research setting. Participants: Participants were 390 persons, ages 18 and older, including persons…

  12. Measured dose to ovaries and testes from Hodgkin's fields and determination of genetically significant dose

    International Nuclear Information System (INIS)

    Niroomand-Rad, A.; Cumberlin, R.

    1993-01-01

    The purpose of this study was to determine the genetically significant dose from therapeutic radiation exposure with Hodgkin's fields by estimating the doses to ovaries and testes. Phantom measurements were performed to verify estimated doses to ovaries and testes from Hodgkin's fields. Thermoluminescent LiF dosimeters (TLD-100) of 1 x 3 x 3 mm 3 dimensions were embedded in phantoms and exposed to standard mantle and paraaortic fields using Co-60, 4 MV, 6 MV, and 10 MV photon beams. The results show that measured doses to ovaries and testes are about two to five times higher than the corresponding graphically estimated doses for Co-60 and 4 MVX photon beams as depicted in ICRP publication 44. In addition, the measured doses to ovaries and testes are about 30% to 65% lower for 10 MV photon beams than for their corresponding Co-60 photon beams. The genetically significant dose from Hodgkin's treatment (less than 0.01 mSv) adds about 4% to the genetically significant dose contribution to medical procedures and adds less than 1% to the genetically significant dose from all sources. Therefore, the consequence to society is considered to be very small. The consequences for the individual patient are, likewise, small. 28 refs., 3 figs., 5 tabs

  13. Ethics or Morals: Understanding Students' Values Related to Genetic Tests on Humans

    Science.gov (United States)

    Lindahl, Mats Gunnar

    2009-01-01

    To make meaning of scientific knowledge in such a way that concepts and values of the life-world are not threatened is difficult for students and laymen. Ethics and morals pertaining to the use of genetic tests for hereditary diseases have been investigated and discussed by educators, anthropologists, medical doctors and philosophers giving, at…

  14. Quality assurance practices in Europe: a survey of molecular genetic testing laboratories

    Science.gov (United States)

    Berwouts, Sarah; Fanning, Katrina; Morris, Michael A; Barton, David E; Dequeker, Elisabeth

    2012-01-01

    In the 2000s, a number of initiatives were taken internationally to improve quality in genetic testing services. To contribute to and update the limited literature available related to this topic, we surveyed 910 human molecular genetic testing laboratories, of which 291 (32%) from 29 European countries responded. The majority of laboratories were in the public sector (81%), affiliated with a university hospital (60%). Only a minority of laboratories was accredited (23%), and 26% was certified. A total of 22% of laboratories did not participate in external quality assessment (EQA) and 28% did not use reference materials (RMs). The main motivations given for accreditation were to improve laboratory profile (85%) and national recognition (84%). Nearly all respondents (95%) would prefer working in an accredited laboratory. In accredited laboratories, participation in EQA (Pquality assurance (Pquality implementation score (QIS), we showed that accredited laboratories (average score 92) comply better than certified laboratories (average score 69, Pquality indicators. We conclude that quality practices vary widely in European genetic testing laboratories. This leads to a potentially dangerous situation in which the quality of genetic testing is not consistently assured. PMID:22739339

  15. Automated Test Assembly for Cognitive Diagnosis Models Using a Genetic Algorithm

    Science.gov (United States)

    Finkelman, Matthew; Kim, Wonsuk; Roussos, Louis A.

    2009-01-01

    Much recent psychometric literature has focused on cognitive diagnosis models (CDMs), a promising class of instruments used to measure the strengths and weaknesses of examinees. This article introduces a genetic algorithm to perform automated test assembly alongside CDMs. The algorithm is flexible in that it can be applied whether the goal is to…

  16. Genetic testing in Li-Fraumeni Syndrome: uptake and psychosocial consequences

    NARCIS (Netherlands)

    Lammens, C.R.M.; Aaronson, N.K.; Wagner, A.; Sijmons, R.H.; Ausems, M.G.E.M.; Vriends, A.H.J.T.; Ruijs, M.W.G.; van Os, T.A.M.; Spruijt, L.; Gómez García, E.B.; Kluijt, I.; Nagtegaal, T.; Verhoef, S.; Bleiker, E.M.A.

    2010-01-01

    Purpose Li-Fraumeni syndrome (LFS) is a hereditary cancer syndrome, characterized by a high risk of developing cancer at various sites and ages. To date, limited clinical benefits of genetic testing for LFS have been demonstrated, and there are concerns about the potential adverse psychosocial

  17. 77 FR 3748 - Request for Comments and Notice of Public Hearings on Genetic Diagnostic Testing

    Science.gov (United States)

    2012-01-25

    ...: Written comments should be sent by email to [email protected] . Comments may also be submitted by postal... subject line of the email or postal mailing as ``Genetic Testing Study.'' Because written comments and... wishing to present oral testimony at either hearing must request an opportunity to do so in writing no...

  18. Pitfalls in genetic testing : the story of missed SCN1A mutations

    NARCIS (Netherlands)

    Djémié, Tania; Weckhuysen, Sarah; von Spiczak, Sarah; Carvill, Gemma L; Jaehn, Johanna; Anttonen, Anna-Kaisa; Brilstra, Eva; Caglayan, Hande S; de Kovel, Carolien G; Depienne, Christel; Gaily, Eija; Gennaro, Elena; Giraldez, Beatriz G; Gormley, Padhraig; Guerrero-López, Rosa; Guerrini, Renzo; Hämäläinen, Eija; Hartmann, Corinna; Hernandez-Hernandez, Laura; Hjalgrim, Helle; Koeleman, Bobby P C; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R; Leu, Costin; Marini, Carla; McMahon, Jacinta M; Mei, Davide; Møller, Rikke S; Muhle, Hiltrud; Myers, Candace T; Nava, Caroline; Serratosa, Jose M; Sisodiya, Sanjay M; Stephani, Ulrich; Striano, Pasquale; van Kempen, Marjan J A; Verbeek, Nienke E; Usluer, Sunay; Zara, Federico; Palotie, Aarno; Mefford, Heather C; Scheffer, Ingrid E; De Jonghe, Peter; Helbig, Ingo; Suls, Arvid

    BACKGROUND: Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying

  19. American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility.

    Science.gov (United States)

    Robson, Mark E; Bradbury, Angela R; Arun, Banu; Domchek, Susan M; Ford, James M; Hampel, Heather L; Lipkin, Stephen M; Syngal, Sapna; Wollins, Dana S; Lindor, Noralane M

    2015-11-01

    The American Society of Clinical Oncology (ASCO) has long affirmed that the recognition and management of individuals with an inherited susceptibility to cancer are core elements of oncology care. ASCO released its first statement on genetic testing in 1996 and updated that statement in 2003 and 2010 in response to developments in the field. In 2014, the Cancer Prevention and Ethics Committees of ASCO commissioned another update to reflect the impact of advances in this area on oncology practice. In particular, there was an interest in addressing the opportunities and challenges arising from the application of massively parallel sequencing-also known as next-generation sequencing-to cancer susceptibility testing. This technology introduces a new level of complexity into the practice of cancer risk assessment and management, requiring renewed effort on the part of ASCO to ensure that those providing care to patients with cancer receive the necessary education to use this new technology in the most effective, beneficial manner. The purpose of this statement is to explore the challenges of new and emerging technologies in cancer genetics and provide recommendations to ensure their optimal deployment in oncology practice. Specifically, the statement makes recommendations in the following areas: germline implications of somatic mutation profiling, multigene panel testing for cancer susceptibility, quality assurance in genetic testing, education of oncology professionals, and access to cancer genetic services. © 2015 by American Society of Clinical Oncology.

  20. Genetic susceptibility testing for chronic disease and intention for behavior change in healthy young adults.

    Science.gov (United States)

    Vassy, Jason L; Donelan, Karen; Hivert, Marie-France; Green, Robert C; Grant, Richard W

    2013-04-01

    Genetic testing for chronic disease susceptibility may motivate young adults for preventive behavior change. This nationally representative survey gave 521 young adults hypothetical scenarios of receiving genetic susceptibility results for heart disease, type 2 diabetes, and stroke and asked their (1) interest in such testing, (2) anticipated likelihood of improving diet and physical activity with high- and low-risk test results, and (3) readiness to make behavior change. Responses were analyzed by presence of established disease-risk factors. Respondents with high phenotypic diabetes risk reported increased likelihood of improving their diet and physical activity in response to high-risk results compared with those with low diabetes risk (odds ratio (OR), 1.82 (1.03, 3.21) for diet and OR, 2.64 (1.24, 5.64) for physical activity). In contrast, poor baseline diet (OR, 0.51 (0.27, 0.99)) and poor physical activity (OR, 0.53 (0.29, 0.99)) were associated with decreased likelihood of improving diet. Knowledge of genetic susceptibility may motivate young adults with higher personal diabetes risk for improvement in diet and exercise, but poor baseline behaviors are associated with decreased intention to make these changes. To be effective, genetic risk testing in young adults may need to be coupled with other strategies to enable behavior change.