WorldWideScience

Sample records for genetic testing screening

  1. Prenatal Genetic Screening Tests

    Science.gov (United States)

    ... cells from the fetus or placenta obtained through amniocentesis or chorionic villus sampling (CVS) . FAQ164 “Prenatal Genetic ... should be followed by a diagnostic test with amniocentesis or CVS. The cell-free DNA screening test ...

  2. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we...... examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection...... with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were...

  3. 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...... referred to as midwives in the following; n=800, response rate 79%), and lay people (n=2000, response rate 62%). Midwives were more worried about the consequences of genetic testing and stressed the autonomy of the customer more strongly than lay people did. Furthermore, professionals considered that lay...

  4. 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.

  5. Prenatal screening and genetics

    NARCIS (Netherlands)

    Alderson, P.; Aro, A.R.; Dragonas, T.; Ettorre, E.; Hemminki, E.; Jalinoja, P.; Santalahti, P.; Tijmstra, T.

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we

  6. Prenatal screening and genetics

    NARCIS (Netherlands)

    Alderson, P.; Aro, A.R.; Dragonas, T.; Ettorre, E.; Hemminki, E.; Jalinoja, P.; Santalahti, P.; Tijmstra, T.

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we exami

  7. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we ex...

  8. Testing for direct genetic effects using a screening step in family-based association studies

    Directory of Open Access Journals (Sweden)

    Sharon M Lutz

    2013-11-01

    Full Text Available In genome wide association studies (GWAS, families based studies tend to have less power to detect genetic associations than population based studies, such as case-control studies. This can be an issue when testing if genes in a family based GWAS have a direct effect on the phenotype of interest or if the genes act indirectly through a secondary phenotype. When multiple SNPs are tested for a direct effect in the family based study, a screening step can be used to minimize the burden of multiple comparisons in the causal analysis. We propose a 2-stage screening step that can be incorporated into the family based association test (FBAT approach similar to the conditional mean model approach in the VanSteen-algorithm [1]. Simulations demonstrate that the type 1 error is preserved and this method is advantageous when multiple markers are tested. This method is illustrated by an application to the Framingham Heart Study.

  9. New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies

    Directory of Open Access Journals (Sweden)

    Tanya Milachich

    2014-01-01

    Full Text Available The current morphologically based selection of human embryos for transfer cannot detect chromosome aneuploidies. So far, only biopsy techniques have been able to screen for chromosomal aneuploidies in the in vitro fertilization (IVF embryos. Preimplantation genetic diagnosis (PGD or screening (PGS involves the biopsy of oocyte polar bodies or embryonic cells and has become a routine clinical procedure in many IVF clinics worldwide, including recent development of comprehensive chromosome screening of all 23 pairs of chromosomes by microarrays for aneuploidy screening. The routine preimplantation and prenatal genetic diagnosis (PND require testing in an aggressive manner. These procedures may be invasive to the growing embryo and fetus and potentially could compromise the clinical outcome. Therefore the aim of this review is to summarize not only the new knowledge on preimplantation and prenatal genetic diagnosis in humans, but also on the development of potential noninvasive embryo and fetal testing that might play an important role in the future.

  10. Quadruple screen test

    Science.gov (United States)

    Quad screen; Multiple marker screening; AFP plus; Triple screen test; AFP maternal; MSAFP; 4-marker screen; Down syndrome - quadruple; Trisomy 21 - quadruple; Turner syndrome - quadruple; Spina bifida - ...

  11. Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire: development and testing of a screening questionnaire for use in clinical cancer genetics

    NARCIS (Netherlands)

    Eijzenga, W.; Bleiker, E.M.A.; Hahn, D.E.E.; Kluijt, I.; Sidharta, G.N.; Gundy, C.; Aaronson, N.K.

    2014-01-01

    Background: Up to three-quarters of individuals who undergo cancer genetic counseling and testing report psychosocial problems specifically related to that setting. The objectives of this study were to develop and evaluate the screening properties of a questionnaire designed to assess specific psych

  12. Judaism, genetic screening and genetic therapy.

    Science.gov (United States)

    Rosner, F

    1998-01-01

    Genetic screening, gene therapy and other applications of genetic engineering are permissible in Judaism when used for the treatment, cure, or prevention of disease. Such genetic manipulation is not considered to be a violation of God's natural law, but a legitimate implementation of the biblical mandate to heal. If Tay-Sachs disease, diabetes, hemophilia, cystic fibrosis, Huntington's disease or other genetic diseases can be cured or prevented by "gene surgery," then it is certainly permitted in Jewish law. Genetic premarital screening is encouraged in Judaism for the purpose of discouraging at-risk marriages for a fatal illness such as Tay-Sachs disease. Neonatal screening for treatable conditions such as phenylketonuria is certainly desirable and perhaps required in Jewish law. Preimplantation screening and the implantation of only "healthy" zygotes into the mother's womb to prevent the birth of an affected child are probably sanctioned in Jewish law. Whether or not these assisted reproduction techniques may be used to choose the sex of one's offspring, to prevent the birth of a child with a sex-linked disease such as hemophilia, has not yet been ruled on by modern rabbinic decisions. Prenatal screening with the specific intent of aborting an affected fetus is not allowed according to most rabbinic authorities, although a minority view permits it "for great need." Not to have children if both parents are carriers of genetic diseases such as Tay-Sachs is not a Jewish option. Preimplantation screening is preferable. All screening test results must remain confidential. Judaism does not permit the alteration or manipulation of physical traits and characteristics such as height, eye and hair color, facial features and the like, when such change provides no useful benefit to mankind. On the other hand, it is permissible to clone organisms and microorganisms to facilitate the production of insulin, growth hormone, and other agents intended to benefit mankind and to

  13. Preimplantation Genetic Screening: An Effective Testing for Infertile and Repeated Miscarriage Patients?

    Directory of Open Access Journals (Sweden)

    Ning Wang

    2010-01-01

    Full Text Available Aneuploidy in pregnancy is known to increase with advanced maternal age (AMA and associate with repeated implantation failure (RIF, and repeated miscarriage (RM. Preimplantation genetic screening (PGS has been introduced into clinical practice, screening, and eliminating aneuploidy embryos, which can improve the chance of conceptions for infertility cases with poor prognosis. These patients are a good target group to assess the possible benefit of aneuploidy screening. Although practiced widely throughout the world, there still exist some doubts about the efficacy of this technique. Recent randomized trials were not as desirable as we expected, suggesting that PGS needs to be reconsidered. The aim of this review is to discuss the efficacy of PGS.

  14. High acceptance of an early dyslexia screening test involving genetic analyses in Germany

    National Research Council Canada - National Science Library

    Wilcke, Arndt; Müller, Bent; Schaadt, Gesa; Kirsten, Holger; Boltze, Johannes

    2016-01-01

    ... the end of the 2nd grade, resulting in the loss of several years for early therapy. Currently, research is focusing on the development of early tests for dyslexia, which may be based on EEG and genetics...

  15. Newborn genetic screening: blessing or curse?

    Science.gov (United States)

    Kenner, C; Amlung, S

    1999-10-01

    Newly discovered genes and advances in genetic screening programs prompt many questions reflecting the kinds of ethical dilemmas that go hand in hand with life-changing discoveries. Neonatal genetic screening has been a standard of care for some time, but as our knowledge in the field of genetics expands, should we continue with the same approach? What newborn genetic screening tests should be mandatory, and what are the long-range consequences associated with testing? This article reviews genetic modes of inheritance, outlines and explains the most common newborn screening tests, and enumerates the ethical issues associated with these screening procedures. The role of the neonatal nurse in the newborn genetic screening process is discussed.

  16. High acceptance of an early dyslexia screening test involving genetic analyses in Germany.

    Science.gov (United States)

    Wilcke, Arndt; Müller, Bent; Schaadt, Gesa; Kirsten, Holger; Boltze, Johannes

    2016-02-01

    Dyslexia is a developmental disorder characterized by severe problems in the acquisition of reading and writing skills. It has a strong neurobiological basis. Genetic influence is estimated at 50-70%. One of the central problems with dyslexia is its late diagnosis, normally not before the end of the 2nd grade, resulting in the loss of several years for early therapy. Currently, research is focusing on the development of early tests for dyslexia, which may be based on EEG and genetics. Our aim was to determine the acceptance of such a future test among parents. We conducted a representative survey in Germany with 1000 parents of children aged 3-7 years, with and without experience of dyslexia. 88.7% of the parents supported the introduction of an early test for dyslexia based on EEG and genetics; 82.8% would have their own children tested, and 57.9% were willing to pay for the test if health insurance did not cover the costs. Test acceptance was significantly higher if parents had prior experience with dyslexia. The perceived benefits of such a test were early recognition and remediation and, preventing deficits. Concerns regarded the precision of the test, its potentially stigmatizing effect and its costs. The high overall support for the test leads to the conclusion that parents would accept a test for dyslexia based on EEG and genetics.

  17. High acceptance of an early dyslexia screening test involving genetic analyses in Germany

    Science.gov (United States)

    Wilcke, Arndt; Müller, Bent; Schaadt, Gesa; Kirsten, Holger; Boltze, Johannes; Angela, h c; Friederici, D; Emmrich, Frank; Brauer, Jens; Wilcke, Arndt; Neef, Nicole; Boltze, Johannes; Skeide, Michael; Kirsten, Holger; Schaadt, Gesa; Müller, Bent; Kraft, Indra; Czepezauer, Ivonne; Bobovnikov, Nadin

    2016-01-01

    Dyslexia is a developmental disorder characterized by severe problems in the acquisition of reading and writing skills. It has a strong neurobiological basis. Genetic influence is estimated at 50–70%. One of the central problems with dyslexia is its late diagnosis, normally not before the end of the 2nd grade, resulting in the loss of several years for early therapy. Currently, research is focusing on the development of early tests for dyslexia, which may be based on EEG and genetics. Our aim was to determine the acceptance of such a future test among parents. We conducted a representative survey in Germany with 1000 parents of children aged 3–7 years, with and without experience of dyslexia. 88.7% of the parents supported the introduction of an early test for dyslexia based on EEG and genetics; 82.8% would have their own children tested, and 57.9% were willing to pay for the test if health insurance did not cover the costs. Test acceptance was significantly higher if parents had prior experience with dyslexia. The perceived benefits of such a test were early recognition and remediation and, preventing deficits. Concerns regarded the precision of the test, its potentially stigmatizing effect and its costs. The high overall support for the test leads to the conclusion that parents would accept a test for dyslexia based on EEG and genetics. PMID:26036858

  18. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing

    NARCIS (Netherlands)

    Domingo, E; Laiho, P; Ollikainen, M; Pinto, M; Wang, L; French, AJ; Westra, J.; Frebourg, T; Espin, E; Armengol, M; Hamelin, R; Yamamoto, H; Hofstra, RMW; Seruca, R; Lindblom, A; Peltomaki, P; Thibodeau, SN; Aaltonen, LA; Schwartz, S

    2004-01-01

    Background: According to the international criteria for hereditary non-polyposis colorectal cancer (HNPCC) diagnostics, cancer patients with a family history or early onset of colorectal tumours showing high microsatellite instability (MSI-H) should receive genetic counselling and be offered testing

  19. Genetic testing in hyperlipidemia.

    Science.gov (United States)

    Bilen, Ozlem; Pokharel, Yashashwi; Ballantyne, Christie M

    2015-05-01

    Hereditary dyslipidemias are often underdiagnosed and undertreated, yet with significant health implications, most importantly causing preventable premature cardiovascular diseases. The commonly used clinical criteria to diagnose hereditary lipid disorders are specific but are not very sensitive. Genetic testing may be of value in making accurate diagnosis and improving cascade screening of family members, and potentially, in risk assessment and choice of therapy. This review focuses on using genetic testing in the clinical setting for lipid disorders, particularly familial hypercholesterolemia.

  20. Optimal screening for genetic diseases.

    Science.gov (United States)

    Nævdal, Eric

    2014-12-01

    Screening for genetic diseases is performed in many regions and/or ethnic groups where there is a high prevalence of possibly malign genes. The propagation of such genes can be considered a dynamic externality. Given that many of these diseases are untreatable and give rise to truly tragic outcomes, they are a source of societal concern, and the screening process should perhaps be regulated. This paper incorporates a standard model of genetic propagation into an economic model of dynamic management to derive cost benefit rules for optimal screening. The highly non-linear nature of genetic dynamics gives rise to perhaps surprising results that include discontinuous controls and threshold effects. One insight is that any screening program that is in place for any amount of time should screen all individuals in a target population. The incorporation of genetic models may prove to be useful to several emerging fields in economics such as genoeconomics, neuroeconomics and paleoeconomics.

  1. Rapid Lead Screening Test

    Science.gov (United States)

    ... Vitro Diagnostics Tests Used In Clinical Care Rapid Lead Screening Test Share Tweet Linkedin Pin it More ... reducing the need for a follow-up visit. Lead Risk Links Centers for Disease Control and Prevention ( ...

  2. Genetic Testing for ALS

    Science.gov (United States)

    ... Involved Donate Familial Amyotrophic Lateral Sclerosis (FALS) and Genetic Testing By Deborah Hartzfeld, MS, CGC, Certified Genetic Counselor ... in your area, please visit www.nsgc.org . Genetic Testing Genetic testing can help determine the cause of ...

  3. Genetic screening and democracy: lessons from debating genetic screening criteria in the Netherlands.

    Science.gov (United States)

    van El, Carla Geertruida; Pieters, Toine; Cornel, Martina

    2012-04-01

    Recent decades have witnessed increasing possibilities for genetic testing and screening. In clinical genetics, the doctor's office defined a secluded space for discussion of sensitive reproductive options in cases of elevated risk for genetic disorders in individuals or their offspring. When prenatal screening for all pregnant women became conceivable, the potential increase in scale made social and ethical concerns relevant for the whole of society. Whereas genetic testing in clinical genetic practice was widely accepted, prenatal screening at a population level met with unease. Concerns were raised regarding social pressure to screen: the sum of individual choice might result in a 'collective eugenics'. The government's involvement also raised suspicion: actively offering screening evoked associations with eugenic population policies from the first half of the 20th century. By reconstructing elements of policy and public debate on prenatal screening in the Netherlands from the past 30 years, this article discusses how the government has gradually changed its role in balancing the interest of the individual and the collective on genetic reproductive issues. Against a background of increasing knowledge about and demand for prenatal screening among the population, governmental policy changed from focusing on protection by banning screening toward facilitating screening in a careful and ethically sound way by providing adequate information, decision aids and quality assessment instruments. In the meanwhile, invigorating democracy in public debate may entail discussing concepts of 'the good life' in relation to living with or without impairments and dealing with genetic information about oneself or one's offspring.

  4. High acceptance of an early dyslexia screening test involving genetic analyses in Germany

    National Research Council Canada - National Science Library

    Wilcke, Arndt; Müller, Bent; Schaadt, Gesa; Kirsten, Holger; Boltze, Johannes

    2016-01-01

    .... Our aim was to determine the acceptance of such a future test among parents. We conducted a representative survey in Germany with 1000 parents of children aged 3-7 years, with and without experience of dyslexia. 88.7...

  5. Short apraxia screening test.

    Science.gov (United States)

    Leiguarda, Ramon; Clarens, Florencia; Amengual, Alejandra; Drucaroff, Lucas; Hallett, Mark

    2014-01-01

    Limb apraxia comprises many different and common disorders, which are largely unrecognized essentially because there is no easy-to-use screening test sensitive enough to identify all types of limb praxis deficits. We evaluated 70 right-handed patients with limb apraxia due to a single focal lesion of the left hemisphere and 40 normal controls, using a new apraxia screening test. The test covered 12 items including: intransitive gestures, transitive gestures elicited under verbal, visual, and tactile modalities, imitation of meaningful and meaningless postures and movements, and a multiple object test. Interrater reliability was maximum for a cutoff of >2 positive items identifying apraxia on the short battery (Cohen's kappa .918, p 3 items (Cohen's kappa .768, p 2 was higher, indicating greater apraxia diagnosis agreement between raters at this cutoff value. The screening test proved to have high specificity and sensitivity to diagnose every type of upper limb praxis deficit, thus showing advantages over previously published tests.

  6. Preimplantation genetic screening as an alternative to prenatal testing for Down syndrome : preferences of women undergoing in vitro fertilization/intracytoplasmic sperm injection treatment

    NARCIS (Netherlands)

    Twisk, Moniek; Haadsma, Maaike L.; van der Veen, Fulco; Repping, Sjoerd; Mastenbroek, Sebastiaan; Heineman, Maas-Jan; Bossuyt, Patrick M. M.; Korevaar, Johanna C.

    2007-01-01

    Objective: Although the primary goal of preimplantation genetic screening (PGS) is to increase pregnancy rates in women undergoing IVF/intracytoplasmic sperm injection treatment, it has been suggested that it may also be used as an alternative to prenatal testing for Down syndrome. Design: Trade-off

  7. Is there evidence that we should screen the general population for Lynch syndrome with genetic testing? A systematic review

    Science.gov (United States)

    Prince, Anya E R; Cadigan, R Jean; Henderson, Gail E; Evans, James P; Adams, Michael; Coker-Schwimmer, Emmanuel; Penn, Dolly C; Van Riper, Marcia; Corbie-Smith, Giselle; Jonas, Daniel E

    2017-01-01

    Background The emerging dual imperatives of personalized medicine and technologic advances make population screening for preventable conditions resulting from genetic alterations a realistic possibility. Lynch syndrome is a potential screening target due to its prevalence, penetrance, and the availability of well-established, preventive interventions. However, while population screening may lower incidence of preventable conditions, implementation without evidence may lead to unintentional harms. We examined the literature to determine whether evidence exists that screening for Lynch-associated mismatch repair (MMR) gene mutations leads to improved overall survival, cancer-specific survival, or quality of life. Documenting evidence and gaps is critical to implementing genomic approaches in public health and guiding future research. Materials and methods Our 2014–2015 systematic review identified studies comparing screening with no screening in the general population, and controlled studies assessing analytic validity of targeted next-generation sequencing, and benefits or harms of interventions or screening. We conducted meta-analyses for the association between early or more frequent colonoscopies and health outcomes. Results Twelve studies met our eligibility criteria. No adequate evidence directly addressed the main question or the harms of screening in the general population. Meta-analyses found relative reductions of 68% for colorectal cancer incidence (relative risk: 0.32, 95% confidence interval: 0.23–0.43, three cohort studies, 590 participants) and 78% for all-cause mortality (relative risk: 0.22, 95% confidence interval: 0.09–0.56, three cohort studies, 590 participants) for early or more frequent colonoscopies among family members of people with cancer who also had an associated MMR gene mutation. Conclusion Inadequate evidence exists examining harms and benefits of population-based screening for Lynch syndrome. Lack of evidence highlights the need

  8. Genetic screening services provided in Turkey.

    Science.gov (United States)

    Erdem, Yurdagül; Tekşen, Fulya

    2013-12-01

    In Turkey, the rate of consanguineous marriage is quite high (22-24 %) and as a result, the incidence of autosomal recessive diseases and congenital anomalies is also very high and gives rise to a serious public health problem. In the last three decades, great effort has been made to avoid increases in the prevalence of these hereditary diseases. For this purpose, population-based premarital, prenatal, neonatal and adult genetic screening programs are performed in various centers such as Community Health Centers, Early Diagnosis of Cancer and Education Centers (KETEM), Prenatal and Neonatal Departments of Universities and State Hospitals and Thalessemia Screening Centers. Such centers are staffed by health professionals including physicians, family physicians, nurses, midwives, biologists and medical geneticists. Genetic counseling is also provided to patients attending these centers after screening tests are performed. Since there are no specialized training programs for genetic counselors, genetic counseling is generally provided by doctors or medical geneticists. The aim of this paper is to give an overview of the genetic screening services provided in Turkey, the prevalence of genetic diseases and the design of intensive educational programs for health professionals.

  9. Neonatal Screening Tests.

    Science.gov (United States)

    Vigue, Charles L.

    1986-01-01

    Describes several laboratory experiments that are adaptations of clinical tests for certain genetic diseases in babies. Information and procedures are provided for tests for phenylketonuria (PKU), galactosemia, tyrosinemia, cystinuria, and mucopolysaccharidosis. Discusses the effects of each disease on the infants' development. (TW)

  10. Impact of human genome initiative-derived technology on genetic testing, screening and counseling: Cultural, ethical and legal issues

    Energy Technology Data Exchange (ETDEWEB)

    Trottier, R.W.; Hodgin, F.C.; Imara, M.; Phoenix, D.; Lybrook, S. (Morehouse Coll., Atlanta, GA (United States). School of Medicine); Crandall, L.A.; Moseley, R.E.; Armotrading, D. (Florida Univ., Gainesville, FL (United States). Coll. of Medicine)

    1993-01-01

    Genetic medical services provided by the Georgia Division of Public Health in two northern and two central districts are compared to services provided in a district in which a tertiary care facility is located. Genetics outreach public health nurses play key roles in Georgia's system of Children's Health Services Genetics Program, including significant roles as counselors and information sources on special needs social services and support organizations. Unique features of individual health districts, (e.g., the changing face of some rural communities in ethnocultural diversity and socioeconomic character), present new challenges to current and future genetics services delivery. Preparedness as to educational needs of both health professionals and the lay population is of foremost concern in light of the ever expanding knowledge and technology in medical genetics. Perspectives on genetics and an overview of services offered by a local private sector counselor are included for comparison to state supported services. The nature of the interactions which transpire between private and public genetic services resources in Georgia will be described. A special focus of this research includes issues associated with sickle cell disease newborn screening service delivery process in Georgia, with particular attention paid to patient follow-up and transition to primary care. Of particular interest to this focus is the problem of loss to follow-up in the current system. Critical factors in education and counseling of sickle cell patients and the expectations of expanding roles of primary care physicians are discussed. The Florida approach to the delivery of genetic services contrasts to the Georgia model by placing more emphasis on a consultant-specialist team approach.

  11. Glucose screening tests during pregnancy

    Science.gov (United States)

    Oral glucose tolerance test - pregnancy; OGTT - pregnancy; Glucose challenge test - pregnancy; Gestational diabetes - glucose screening ... screening test between 24 and 28 weeks of pregnancy. The test may be done earlier if you ...

  12. Investigating the viability of genetic screening/testing for RA susceptibility using combinations of five confirmed risk loci

    Science.gov (United States)

    McClure, Annie; Lunt, Mark; Eyre, Steve; Ke, Xiayi; Thomson, Wendy; Hinks, Anne; Bowes, John; Gibbons, Laura; Plant, Darren; Wilson, Anthony G.; Marinou, Ioanna; Morgan, Ann W.; Emery, Paul; Steer, Sophia; Hocking, Lynne J.; Reid, David M.; Wordsworth, Paul; Harrison, Pille; Worthington, Jane

    2009-01-01

    Objective. Five loci—the shared epitope (SE) of HLA-DRB1, the PTPN22 gene, a locus on 6q23, the STAT4 gene and a locus mapping to the TRAF1/C5 genetic region—have now been unequivocally confirmed as conferring susceptibility to RA. The largest single effect is conferred by SE. We hypothesized that combinations of susceptibility alleles may increase risk over and above that of any individual locus alone. Methods. We analysed data from 4238 RA cases and 1811 controls, for which genotypes were available at all five loci. Results. Statistical analysis identified eight high-risk combinations conferring an odds ratio >6 compared with carriage of no susceptibility variants and, interestingly, 10% population controls carried a combination conferring high risk. All high-risk combinations included SE, and all but one contained PTPN22. Statistical modelling showed that a model containing only these two loci could achieve comparable sensitivity and specificity to a model including all five. Furthermore, replacing SE (which requires full subtyping at the HLA-DRB1 gene) with DRB1*1/4/10 carriage resulted in little further loss of information (correlation coefficient between models = 0.93). Conclusions. This represents the first exploration of the viability of population screening for RA and identifies several high-risk genetic combinations. However, given the population incidence of RA, genetic screening based on these loci alone is neither sufficiently sensitive nor specific at the current time. PMID:19741008

  13. Neonatal cystic fibrosis screening test

    Science.gov (United States)

    Cystic fibrosis screening - neonatal; Immunoreactive trypsinogen; IRT test; CF - screening ... Cystic fibrosis is a disease passed down through families. CF causes thick, sticky mucus to build up in ...

  14. Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease.

    Science.gov (United States)

    Colaianni, Alessandra; Chandrasekharan, Subhashini; Cook-Deegan, Robert

    2010-04-01

    Genetic testing for Tay-Sachs and Canavan disease is particularly important for Ashkenazi Jews, because both conditions are more frequent in that population. This comparative case study was possible because of different patenting and licensing practices. The role of DNA testing differs between Tay-Sachs and Canavan diseases. The first-line screening test for Tay-Sachs remains an enzyme activity test rather than genotyping. Genotyping is used for preimplantation diagnosis and confirmatory testing. In contrast, DNA-based testing is the basis for Canavan screening and diagnosis. The HEXA gene for Tay-Sachs was cloned at the National Institutes of Health, and the gene was patented but has not been licensed. The ASPA gene for Canavan disease was cloned and patented by Miami Children's Hospital. Miami Children's Hospital did not inform family members and patient groups that had contributed to the gene discovery that it was applying for a patent, and pursued restrictive licensing practices when a patent issued in 1997. This led to intense controversy, litigation, and a sealed, nonpublic 2003 settlement that apparently allowed for nonexclusive licensing. A survey of laboratories revealed a possible price premium for ASPA testing, with per-unit costs higher than for other genetic tests in the Secretary's Advisory Committee on Genetics, Health, and Society case studies. The main conclusion from comparing genetic testing for Tay-Sachs and Canavan diseases, however, is that patenting and licensing conducted without communication with patients and advocates cause mistrust and can lead to controversy and litigation, a negative model to contrast with the positive model of patenting and licensing for genetic testing of cystic fibrosis.

  15. Prenatal Genetic Testing Chart

    Science.gov (United States)

    ... NT ultrasound exam • Screens for Down • syndrome and trisomy 18 First-trimester screening Second-trimester screening (“quad ... 22 weeks • Blood testScreens for Down syndrome, trisomy 13, trisomy 18, and NTDs Standard ultrasound exam • ...

  16. Genetic testing and risk interpretation

    Directory of Open Access Journals (Sweden)

    Talya Miron-Shatz

    2010-04-01

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

  17. Pragmatic approaches to genetic screening.

    NARCIS (Netherlands)

    Mallia, P.; Have, H.A.M.J. ten

    2005-01-01

    Pragmatic approaches to genetic testing are discussed and appraised. Whilst there are various schools of pragmatism, the Deweyan approach seems to be the most appreciated in bioethics as it allows a historical approach indebted to Hegel. This in turn allows the pragmatist to specify and balance prin

  18. How Is Genetic Testing Done?

    Science.gov (United States)

    ... Testing How is genetic testing done? How is genetic testing done? Once a person decides to proceed with ... is called informed consent . For more information about genetic testing procedures: The National Society of Genetic Counselors offers ...

  19. Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing

    Science.gov (United States)

    Chen, Yi-Yao; Li, Shu-Yuan; Zhang, Lan-Lan; Shen, Ying-Hua; Chang, Chun-Xin; Xiang, Yu-Qian; Huang, He-Feng; Xu, Chen-Ming

    2017-01-01

    X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia. Mutations in SH2D1A gene have been revealed as the cause of XLP1. In this study, a pregnant woman with recurrence history of birthing immunodeficiency was screened for pathogenic variant because the proband sample was unavailable. We aimed to clarify the genetic diagnosis and provide prenatal testing for the family. Next-generation sequencing (NGS)-based multigene panel was used in carrier screening of the pregnant woman. Variants of immunodeficiency related genes were analyzed and prioritized. Candidate variant was verified by using Sanger sequencing. The possible influence of the identified variant was evaluated through RNA assay. Amniocentesis, karyotyping, and Sanger sequencing were performed for prenatal testing. We identified a novel de novo frameshift SH2D1A pathogenic variant (c.251_255delTTTCA) in the pregnant carrier. Peripheral blood RNA assay indicated that the mutant transcript could escape nonsense-mediated mRNA decay (NMD) and might encode a C-terminal truncated protein. Information of the variant led to success prenatal diagnosis of the fetus. In conclusion, our study clarified the genetic diagnosis and altered disease prevention for a pregnant carrier of XLP1. PMID:28231257

  20. Genetic Testing (For Parents)

    Science.gov (United States)

    ... before birth, pregnant women may decide to undergo amniocentesis or chorionic villus sampling. There is also a ... If this screening test finds a possible problem, amniocentesis or chorionic villus sampling may be recommended. Amniocentesis ...

  1. Private and public eugenics: genetic and screening in India

    NARCIS (Netherlands)

    Gupta, J.A.

    2007-01-01

    Epidemiologists and geneticists claim that genetics has an increasing role to play in public health policies and programs in the future. Within this perspective, genetic testing and screening are instrumental in avoiding the birth of children with serious, costly or untreatable disorders. This paper

  2. Culture and genetic screening in Africa.

    Science.gov (United States)

    Jegede, Ayodele S

    2009-12-01

    Africa is a continent in transition amidst a revival of cultural practices. Over previous years the continent was robbed of the benefits of medical advances by unfounded cultural practices surrounding its cultural heritage. In a fast moving field like genetic screening, discussions of social and policy aspects frequently need to take place at an early stage to avoid the dilemma encountered by Western medicine. This paper, examines the potential challenges to genetic screening in Africa. It discusses how cultural practices may affect genetic screening. It views genomics science as a culture which is trying to diffuse into another one. It argues that understanding the existing culture will help the diffusion process. The paper emphasizes the importance of genetic screening for Africa, by assessing the current level of burden of diseases in the continent and shows its role in reducing disease prevalence. The paper identifies and discusses the cultural challenges that are likely to confront genetic screening on the continent, such as the worldview, rituals and taboos, polygyny, culture of son preference and so on. It also discusses cultural practices that may promote the science such as inheritance practices, spouse selection practices and naming patterns. Factors driving the cultural challenges are identified and discussed, such as socialization process, patriarchy, gender, belief system and so on. Finally, the paper discusses the way forward and highlights the ethical considerations of doing genetic screening on the continent. However, the paper also recognizes that African culture is not monolithic and therefore makes a case for exceptions.

  3. TB Screening Tests

    Science.gov (United States)

    Advertisement Proceeds from website advertising help sustain Lab Tests Online. AACC is a not-for-profit organization and does not endorse non-AACC products and services. Advertising & Sponsorship: Policy | Opportunities ...

  4. Newborn Screening Tests

    Science.gov (United States)

    ... body. Made in the bone marrow and the thymus gland, B- and T- lymphocytes are specialized white ... be treated to help prevent problems with that development. previous continue Should I Request Other Tests? If ...

  5. 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...... mutations. METHODS: We sent out a survey to 16 genetic centers performing SCN1A testing. RESULTS: We collected data on 28 mutations initially missed using Sanger sequencing. All patients were falsely reported as SCN1A mutation-negative, both due to technical limitations and human errors. CONCLUSION: We...

  6. Antenatal screening and the gendering of genetic responsibility

    Directory of Open Access Journals (Sweden)

    Reed Kate

    2007-09-01

    Full Text Available Abstract Background The objective of this study is to explore men's and women's perceptions of antenatal blood screening. The study will assess the impact of these perceptions on decision-making regarding diagnostic testing and selective abortion, and on parental feelings of genetic responsibility. By exploring gender and antenatal screening in this way, the research aims to contribute to our understanding of lay perceptions of genetic screening and increase our knowledge of the decision-making process in screening. Research design This qualitative study will be based on semi-structured interviews with twenty pregnant women and twenty male partners in the post-industrial city of Sheffield, UK. All interviews will be taped, transcribed and analysed thematically using NVIVO, a qualitative software package. Discussion The findings of this study have relevance to existing debates on the social and ethical implications of reproductive genetics. A better understanding of male and female perceptions of the screening process could improve guidance and practice in antenatal screening and genetic counselling. It will also inform and contribute to the development of theory on gender and genetic screening.

  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. Review of Autism Screening Tests

    Directory of Open Access Journals (Sweden)

    Farin Soleimani

    2014-10-01

    Full Text Available Background: Autism is a neurodevelopmental disorder that onset in the first 3 years of life and led to lifelong disability.Despite the early onset of symptoms, diagnosis of thissyndromedoes not happenuntil severalyears later, somany childrenlosethe opportunityfor earlyintervention.There arevarious toolsforscreening anddiagnosis, buttheirdesign, strengths and weaknesses aredifferent. The aim of this study was assess these tools from various aspects to provide a comprehensive view. Materials and methods: This study is a narrative literature review on screeningtoolsof autism. Comprehensive searches of the scientific literature were conducted in textbooks and 8 electronic databases(proquest,wiley,google scholar,SID,Scopus, Web of Science ،Science Direct ، and Medline and Pediatric book. language restriction (Persian and English was applied. The search strategy consisted of keywords and medical subject headings for autism and various screening tests. Result: In this study, 28 screening tests were identified from 1992 to 2014. CHAT is oldest test and the most recent test is CAST The minimum age that can perform the screening is six months that related to ITC. Minimum time of testing was 5 minutes  for CHAT and the maximum time was 90-120 minutes for ASIEP-3.RAADS-R test was the highest specificity and specificity (100% and the lowest specificity was 14% in ESAT test Conclusion: The results of this study indicate that any of the autism screening tools consider specific skill and various aspects of the disease, careful evaluation is need to choose proper test.

  9. PREMARITAL SCREENING TESTS: AN ISLAMIC VIEW

    OpenAIRE

    Hasan Shammout

    2017-01-01

    Despite the wide spread of many diseases, advancements in genetic engineering have led to considerable improvements in diagnosing these diseases. Therefore, pressure on prospective spouses to undergo premarital medical exams has increased significantly. Many Islamic countries have responded to this emerging need by making some premarital screening tests compulsory for a marriage. The adoption of these policies comes from the core message of Islam, which encourages counselling to p...

  10. Frequently Asked Questions about Genetic Testing

    Science.gov (United States)

    ... Care Specific Genetic Disorders Frequently Asked Questions About Genetic Testing What is genetic testing? What can I learn ... find more information about genetic testing? What is genetic testing? Genetic testing uses laboratory methods to look at ...

  11. PREMARITAL SCREENING TESTS: AN ISLAMIC VIEW

    Directory of Open Access Journals (Sweden)

    Hasan Shammout

    2017-08-01

    Full Text Available Despite the wide spread of many diseases, advancements in genetic engineering have led to considerable improvements in diagnosing these diseases. Therefore, pressure on prospective spouses to undergo premarital medical exams has increased significantly. Many Islamic countries have responded to this emerging need by making some premarital screening tests compulsory for a marriage. The adoption of these policies comes from the core message of Islam, which encourages counselling to protect future generations and to guarantee the continuity of worshipping God. However, some people reject the compulsory test, considering them against Islam rules. In this letter to the editor, the authors explore the view of Islam towards premarital medical tests.

  12. Abnormal Cervical Cancer Screening Test Results

    Science.gov (United States)

    ... FREQUENTLY ASKED QUESTIONS FAQ187 GYNECOLOGIC PROBLEMS Abnormal Cervical Cancer Screening Test Results • What is cervical cancer screening? • What causes abnormal cervical cancer screening test results? • ...

  13. Chemical compatibility screening test results

    Energy Technology Data Exchange (ETDEWEB)

    Nigrey, P.J.; Dickens, T.G.

    1997-12-01

    A program for evaluating packaging components that may be used in transporting mixed-waste forms has been developed and the first phase has been completed. This effort involved the screening of ten plastic materials in four simulant mixed-waste types. These plastics were butadiene-acrylonitrile copolymer rubber, cross-linked polyethylene (XLPE), epichlorohydrin rubber, ethylene-propylene rubber (EPDM), fluorocarbon (Viton or Kel-F), polytetrafluoroethylene, high-density polyethylene (HDPE), isobutylene-isoprene copolymer rubber (butyl), polypropylene, and styrene-butadiene rubber (SBR). The selected simulant mixed wastes were (1) an aqueous alkaline mixture of sodium nitrate and sodium nitrite; (2) a chlorinated hydrocarbon mixture; (3) a simulant liquid scintillation fluid; and (4) a mixture of ketones. The testing protocol involved exposing the respective materials to 286,000 rads of gamma radiation followed by 14-day exposures to the waste types at 60{degrees}C. The seal materials were tested using vapor transport rate (VTR) measurements while the liner materials were tested using specific gravity as a metric. For these tests, a screening criterion of 0.9 g/hr/m{sup 2} for VTR and a specific gravity change of 10% was used. Based on this work, it was concluded that while all seal materials passed exposure to the aqueous simulant mixed waste, EPDM and SBR had the lowest VTRs. In the chlorinated hydrocarbon simulant mixed waste, only Viton passed the screening tests. In both the simulant scintillation fluid mixed waste and the ketone mixture simulant mixed waste, none of the seal materials met the screening criteria. For specific gravity testing of liner materials, the data showed that while all materials with the exception of polypropylene passed the screening criteria, Kel-F, HDPE, and XLPE offered the greatest resistance to the combination of radiation and chemicals.

  14. Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.

    Science.gov (United States)

    Wilson, R Douglas; De Bie, Isabelle; Armour, Christine M; Brown, Richard N; Campagnolo, Carla; Carroll, June C; Okun, Nan; Nelson, Tanya; Zwingerman, Rhonda; Audibert, Francois; Brock, Jo-Ann; Brown, Richard N; Campagnolo, Carla; Carroll, June C; De Bie, Isabelle; Johnson, Jo-Ann; Okun, Nan; Pastruck, Melanie; Vallée-Pouliot, Karine; Wilson, R Douglas; Zwingerman, Rhonda; Armour, Christine; Chitayat, David; De Bie, Isabelle; Fernandez, Sara; Kim, Raymond; Lavoie, Josee; Leonard, Norma; Nelson, Tanya; Taylor, Sherry; Van Allen, Margot; Van Karnebeek, Clara

    2016-08-01

    This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document. All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7. Fertile, sexually active females and their fertile, sexually active male partners who are either planning a pregnancy or are pregnant (preferably in the first trimester of pregnancy, but any gestational age is acceptable). Women and their partners will be able to obtain appropriate genetic carrier screening information and possible diagnosis of AR, AD, or XL disorders (preferably pre-conception), thereby allowing an informed choice regarding genetic carrier screening and reproductive options (e.g., prenatal diagnosis, preimplantation genetic diagnosis, egg or sperm donation, or adoption). Informed reproductive decisions related to genetic carrier screening and reproductive outcomes based on family history, ethnic background, past obstetrical history, known carrier status, or genetic diagnosis. SOGC REPRODUCTIVE CARRIER SCREENING SUMMARY STATEMENT (2016): Pre-conception or prenatal education and counselling for reproductive carrier screening requires a discussion about testing within the three perinatal genetic carrier screening/diagnosis time periods, which include pre-conception, prenatal, and neonatal for conditions currently being screened for and diagnosed. This new information should be added to the standard reproductive carrier screening protocols that are already being utilized by

  15. A comprehensive review of genetics and genetic testing in azoospermia

    Directory of Open Access Journals (Sweden)

    Alaa J. Hamada

    2013-01-01

    Full Text Available Azoospermia due to obstructive and non-obstructive mechanisms is a common manifestation of male infertility accounting for 10-15% of such cases. Known genetic factors are responsible for approximately 1/3 of cases of azoospermia. Nonetheless, at least 40% of cases are currently categorized as idiopathic and may be linked to unknown genetic abnormalities. It is recommended that various genetic screening tests are performed in azoospermic men, given that their results may play vital role in not only identifying the etiology but also in preventing the iatrogenic transmission of genetic defects to offspring via advanced assisted conception techniques. In the present review, we examine the current genetic information associated with azoospermia based on results from search engines, such as PUBMED, OVID, SCIENCE DIRECT and SCOPUS. We also present a critical appraisal of use of genetic testing in this subset of infertile patients.

  16. A comprehensive review of genetics and genetic testing in azoospermia.

    Science.gov (United States)

    Hamada, Alaa J; Esteves, Sandro C; Agarwal, Ashok

    2013-01-01

    Azoospermia due to obstructive and non-obstructive mechanisms is a common manifestation of male infertility accounting for 10-15% of such cases. Known genetic factors are responsible for approximately 1/3 of cases of azoospermia. Nonetheless, at least 40% of cases are currently categorized as idiopathic and may be linked to unknown genetic abnormalities. It is recommended that various genetic screening tests are performed in azoospermic men, given that their results may play vital role in not only identifying the etiology but also in preventing the iatrogenic transmission of genetic defects to offspring via advanced assisted conception techniques. In the present review, we examine the current genetic information associated with azoospermia based on results from search engines, such as PUBMED, OVID, SCIENCE DIRECT and SCOPUS. We also present a critical appraisal of use of genetic testing in this subset of infertile patients.

  17. A comprehensive review of genetics and genetic testing in azoospermia

    Science.gov (United States)

    Hamada, Alaa J; Esteves, Sandro C; Agarwal, Ashok

    2013-01-01

    Azoospermia due to obstructive and non-obstructive mechanisms is a common manifestation of male infertility accounting for 10-15% of such cases. Known genetic factors are responsible for approximately 1/3 of cases of azoospermia. Nonetheless, at least 40% of cases are currently categorized as idiopathic and may be linked to unknown genetic abnormalities. It is recommended that various genetic screening tests are performed in azoospermic men, given that their results may play vital role in not only identifying the etiology but also in preventing the iatrogenic transmission of genetic defects to offspring via advanced assisted conception techniques. In the present review, we examine the current genetic information associated with azoospermia based on results from search engines, such as PUBMED, OVID, SCIENCE DIRECT and SCOPUS. We also present a critical appraisal of use of genetic testing in this subset of infertile patients. PMID:23503954

  18. In vitro fertilization with preimplantation genetic screening

    NARCIS (Netherlands)

    Mastenbroek, Sebastiaan; Twisk, Moniek; van Echten-Arends, Jannie; Sikkema-Raddatz, Birgit; Korevaar, Johanna C.; Verhoeve, Harold R.; Vogel, Niels E. A.; Arts, Eus G. J. M.; de Vries, Jan W. A.; Bossuyt, Patrick M.; Buys, Charles H. C. M.; Heineman, Maas Jan; Repping, Sjoerd; van der Veen, Fulco

    2007-01-01

    BACKGROUND: Pregnancy rates in women of advanced maternal age undergoing in vitro fertilization (IVF) are disappointingly low. It has been suggested that the use of preimplantation genetic screening of cleavage-stage embryos for aneuploidies may improve the effectiveness of IVF in these women.

  19. Genetic Testing in the Workplace: A Caste System for Workers?

    Science.gov (United States)

    Samuels, Sheldon W.

    1999-01-01

    "Authorized" genetic testing may be obtained from employees with coercion or threat. Unless protections are put in place, employers and health insurers will use genetic screening to hire and fire. (JOW)

  20. 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.

  1. Impact of human genome initiative-derived technology on genetic testing, screening and counseling: Cultural, ethical and legal issues. Progress report

    Energy Technology Data Exchange (ETDEWEB)

    Trottier, R.W.; Hodgin, F.C.; Imara, M.; Phoenix, D.; Lybrook, S. [Morehouse Coll., Atlanta, GA (United States). School of Medicine; Crandall, L.A.; Moseley, R.E.; Armotrading, D. [Florida Univ., Gainesville, FL (United States). Coll. of Medicine

    1993-03-01

    Genetic medical services provided by the Georgia Division of Public Health in two northern and two central districts are compared to services provided in a district in which a tertiary care facility is located. Genetics outreach public health nurses play key roles in Georgia`s system of Children`s Health Services Genetics Program, including significant roles as counselors and information sources on special needs social services and support organizations. Unique features of individual health districts, (e.g., the changing face of some rural communities in ethnocultural diversity and socioeconomic character), present new challenges to current and future genetics services delivery. Preparedness as to educational needs of both health professionals and the lay population is of foremost concern in light of the ever expanding knowledge and technology in medical genetics. Perspectives on genetics and an overview of services offered by a local private sector counselor are included for comparison to state supported services. The nature of the interactions which transpire between private and public genetic services resources in Georgia will be described. A special focus of this research includes issues associated with sickle cell disease newborn screening service delivery process in Georgia, with particular attention paid to patient follow-up and transition to primary care. Of particular interest to this focus is the problem of loss to follow-up in the current system. Critical factors in education and counseling of sickle cell patients and the expectations of expanding roles of primary care physicians are discussed. The Florida approach to the delivery of genetic services contrasts to the Georgia model by placing more emphasis on a consultant-specialist team approach.

  2. Clinical Genetic Testing in Gastroenterology

    Science.gov (United States)

    Goodman, Russell P; Chung, Daniel C

    2016-01-01

    Rapid advances in genetics have led to an increased understanding of the genetic determinants of human disease, including many gastrointestinal (GI) disorders. Coupled with a proliferation of genetic testing services, this has resulted in a clinical landscape where commercially available genetic tests for GI disorders are now widely available. In this review, we discuss the current status of clinical genetic testing for GI illnesses, review the available testing options, and briefly discuss indications for and practical aspects of such testing. Our goal is to familiarize the practicing gastroenterologist with this rapidly changing and important aspect of clinical care. PMID:27124700

  3. Genetic screens in Caenorhabditis elegans models for neurodegenerative diseases

    NARCIS (Netherlands)

    Alvarenga Fernandes Sin, Olga; Michels, Helen; Nollen, Ellen A. A.

    2014-01-01

    Caenorhabditis elegans comprises unique features that make it an attractive model organism in diverse fields of biology. Genetic screens are powerful to identify genes and C. elegans can be customized to forward or reverse genetic screens and to establish gene function. These genetic screens can be

  4. Genetic screens in Caenorhabditis elegans models for neurodegenerative diseases

    NARCIS (Netherlands)

    Alvarenga Fernandes Sin, Olga; Michels, Helen; Nollen, Ellen A. A.

    2014-01-01

    Caenorhabditis elegans comprises unique features that make it an attractive model organism in diverse fields of biology. Genetic screens are powerful to identify genes and C. elegans can be customized to forward or reverse genetic screens and to establish gene function. These genetic screens can be

  5. Sources of Error in Mammalian Genetic Screens

    Directory of Open Access Journals (Sweden)

    Laura Magill Sack

    2016-09-01

    Full Text Available Genetic screens are invaluable tools for dissection of biological phenomena. Optimization of such screens to enhance discovery of candidate genes and minimize false positives is thus a critical aim. Here, we report several sources of error common to pooled genetic screening techniques used in mammalian cell culture systems, and demonstrate methods to eliminate these errors. We find that reverse transcriptase-mediated recombination during retroviral replication can lead to uncoupling of molecular tags, such as DNA barcodes (BCs, from their associated library elements, leading to chimeric proviral genomes in which BCs are paired to incorrect ORFs, shRNAs, etc. This effect depends on the length of homologous sequence between unique elements, and can be minimized with careful vector design. Furthermore, we report that residual plasmid DNA from viral packaging procedures can contaminate transduced cells. These plasmids serve as additional copies of the PCR template during library amplification, resulting in substantial inaccuracies in measurement of initial reference populations for screen normalization. The overabundance of template in some samples causes an imbalance between PCR cycles of contaminated and uncontaminated samples, which results in a systematic artifactual depletion of GC-rich library elements. Elimination of contaminating plasmid DNA using the bacterial endonuclease Benzonase can restore faithful measurements of template abundance and minimize GC bias.

  6. GAMPMS: Genetic algorithm managed peptide mutant screening.

    Science.gov (United States)

    Long, Thomas; McDougal, Owen M; Andersen, Tim

    2015-06-30

    The prominence of endogenous peptide ligands targeted to receptors makes peptides with the desired binding activity good molecular scaffolds for drug development. Minor modifications to a peptide's primary sequence can significantly alter its binding properties with a receptor, and screening collections of peptide mutants is a useful technique for probing the receptor-ligand binding domain. Unfortunately, the combinatorial growth of such collections can limit the number of mutations which can be explored using structure-based molecular docking techniques. Genetic algorithm managed peptide mutant screening (GAMPMS) uses a genetic algorithm to conduct a heuristic search of the peptide's mutation space for peptides with optimal binding activity, significantly reducing the computational requirements of the virtual screening. The GAMPMS procedure was implemented and used to explore the binding domain of the nicotinic acetylcholine receptor (nAChR) α3β2-isoform with a library of 64,000 α-conotoxin (α-CTx) MII peptide mutants. To assess GAMPMS's performance, it was compared with a virtual screening procedure that used AutoDock to predict the binding affinity of each of the α-CTx MII peptide mutants with the α3β2-nAChR. The GAMPMS implementation performed AutoDock simulations for as few as 1140 of the 64,000 α-CTx MII peptide mutants and could consistently identify a set of 10 peptides with an aggregated binding energy that was at least 98% of the aggregated binding energy of the 10 top peptides from the exhaustive AutoDock screening.

  7. Coupled mutagenesis screens and genetic mapping in zebrafish.

    Science.gov (United States)

    Rawls, John F; Frieda, Matthew R; McAdow, Anthony R; Gross, Jason P; Clayton, Chad M; Heyen, Candy K; Johnson, Stephen L

    2003-01-01

    Forward genetic analysis is one of the principal advantages of the zebrafish model system. However, managing zebrafish mutant lines derived from mutagenesis screens and mapping the corresponding mutations and integrating them into the larger collection of mutations remain arduous tasks. To simplify and focus these endeavors, we developed an approach that facilitates the rapid mapping of new zebrafish mutations as they are generated through mutagenesis screens. We selected a minimal panel of 149 simple sequence length polymorphism markers for a first-pass genome scan in crosses involving C32 and SJD inbred lines. We also conducted a small chemical mutagenesis screen that identified several new mutations affecting zebrafish embryonic melanocyte development. Using our first-pass marker panel in bulked-segregant analysis, we were able to identify the genetic map positions of these mutations as they were isolated in our screen. Rapid mapping of the mutations facilitated stock management, helped direct allelism tests, and should accelerate identification of the affected genes. These results demonstrate the efficacy of coupling mutagenesis screens with genetic mapping. PMID:12663538

  8. Combination of hearing screening and genetic screening for deafness-susceptibility genes in newborns.

    Science.gov (United States)

    Yao, Gen-Dong; Li, Shou-Xia; Chen, Ding-Li; Feng, Hai-Qin; Zhao, Su-Bin; Liu, Yong-Jie; Guo, Li-Li; Yang, Zhi-Ming; Zhang, Xiao-Fang; Sun, Cai-Xia; Wang, Ze-Hui; Zhang, Wei-Yong

    2014-01-01

    The aim of this study was to determine the clinical significance of the results of screening of newborn hearing and the incidence of deafness-susceptibility genes. One thousand newborn babies in the Handan Center Hospital (Handan, China) underwent screening of hearing and deafness-susceptibility genes. The first screening test was carried out using otoacoustic emissions (OAEs). Babies with hearing loss who failed to pass the initial screening were scheduled for rescreening at 42 days after birth. Cord blood was used for the screening of deafness-susceptibility genes, namely the GJB2, SLC26A4 and mitochondrial 12S rRNA (MTRNR1) genes. Among the 1,000 neonates that underwent the first hearing screening, 25 exhibited left-sided hearing loss, 21 exhibited right-sided hearing loss and 15 cases had binaural hearing loss. After rescreening 42 days later, only one of the initial 61 cases exhibited hearing loss under OAE testing. The neonatal deafness gene tests showed two cases with 1555A>G mutation and two cases with 1494C>T mutation of the MTRNR1 gene. In the SLC26A4 gene screening, four cases exhibited the heterozygous IVS7-2A>G mutation and one case exhibited heterozygous 1226G>A mutation. In the GJB2 gene screening, two cases exhibited the homozygous 427C>T mutation and 10 exhibited the heterozygous 235delC mutation. The genetic screening revealed 21 newborns with mutations in the three deafness-susceptibility genes. The overall carrier rate was 2.1% (21/1,000). The association of hearing and gene screening may be the promising screening strategy for the diagnosis of hearing loss.

  9. Coeliac disease and autoimmune disease-genetic overlap and screening.

    Science.gov (United States)

    Lundin, Knut E A; Wijmenga, Cisca

    2015-09-01

    Coeliac disease is a treatable, gluten-induced disease that often occurs concurrently with other autoimmune diseases. In genetic studies since 2007, a partial genetic overlap between these diseases has been revealed and further insights into the pathophysiology of coeliac disease and autoimmunity have been gained. However, genetic screening is not sensitive and specific enough to accurately predict disease development. The current method to diagnose individuals with coeliac disease is serological testing for the presence of autoantibodies whilst the patient is on a regular, gluten-containing diet, followed by gastroduodenoscopy with duodenal biopsy. Serological test results can also predict the probability of coeliac disease development, even if asymptomatic. In patients with autoimmune diseases known to occur alongside coeliac disease (particularly type 1 diabetes mellitus or thyroid disorders), disease screening-and subsequent treatment if coeliac disease is detected-could have beneficial effects on progression or potential complications of both diseases, owing to the effectiveness of gluten-free dietary interventions in coeliac disease. However, whether diagnosis of coeliac disease and subsequent dietary treatment can prevent autoimmune diseases is debated. In this Review, the genetic and immunological features of coeliac disease, overlap with other autoimmune diseases and implications for current screening strategies will be discussed.

  10. Comparison of Two Screening Tests: Gesell Developmental Test and Meeting Street School Screening Test.

    Science.gov (United States)

    Dukes, Lenell; Buttery, Thomas J.

    1982-01-01

    Pearson product-moment correlations were computed for selected subtests of The Gesell Developmental Test and The Meeting Street School Screening Test. The selected subtests are moderately correlated, suggesting that either test might be used in a battery. (Author)

  11. What Are the Types of Genetic Tests?

    Science.gov (United States)

    ... paternity). For more information about the uses of genetic testing: A Brief Primer on Genetic Testing , which outlines ... at the Univeristy of Utah. Topics in the Genetic Testing chapter What is genetic testing? What are the ...

  12. Genetic Testing Registry

    Science.gov (United States)

    ... GEO) Profiles Genome Workbench HomoloGene Map Viewer Online Mendelian Inheritance in Man (OMIM) RefSeqGene UniGene All Genes & Expression Resources... Genetics & Medicine Bookshelf Database of Genotypes and Phenotypes (dbGaP) ...

  13. [Genetic diagnostic testing in inherited retinal dystrophies].

    Science.gov (United States)

    Kohl, S; Biskup, S

    2013-03-01

    Inherited retinal dystrophies are clinically and genetically highly heterogeneous. They can be divided according to the clinical phenotype and course of the disease, as well as the underlying mode of inheritance. Isolated retinal dystrophies (i.e., retinitis pigmentosa, Leber's congenital amaurosis, cone and cone-rod dystrophy, macular dystrophy, achromatopsia, congenital stationary nightblindness) and syndromal forms (i.e., Usher syndrome, Bardet-Biedl syndrome) can be differentiated. To date almost 180 genes and thousands of distinct mutations have been identified that are responsible for the different forms of these blinding illnesses. Until recently, there was no adequate diagnostic genetic testing available. With the development of the next generation sequencing technologies, a comprehensive genetic screening analysis for all known genes for inherited retinal dystrophies has been established at reasonable costs and in appropriate turn-around times. Depending on the primary clinical diagnosis and the presumed mode of inheritance, different diagnostic panels can be chosen for genetic testing. Statistics show that in 55-80 % of the cases the genetic defect of the inherited retinal dystrophy can be identified with this approach, depending on the initial clinical diagnosis. The aim of any genetic diagnostics is to define the genetic cause of a given illness within the affected patient and family and thereby i) confirm the clinical diagnosis, ii) provide targeted genetic testing in family members, iii) enable therapeutic intervention, iv) give a prognosis on disease course and progression and v) in the long run provide the basis for novel therapeutic approaches and personalised medicine.

  14. Regulation of Genetic Tests

    Science.gov (United States)

    ... the deceptive practices of direct-to-consumer tests, calling the results of such tests as "misleading and ... Bethesda, MD: National Institutes of Health; 2000. US Government Accountability Office Nutrigenetic testing: tests purchased from four ...

  15. Genetic screening for infertility: When should it be done?

    Directory of Open Access Journals (Sweden)

    Elda Kara

    2010-07-01

    Primary amenorrhea should be investigated by karyotype analysis and selected mutation screening according to the patient's clinical features. Karyotype analyses and FMR1 gene screening is recommended in cases of POF. At present the infertility of patients with POF cannot be restored if the diagnosis is made after complete follicular depletion, but in some cases, early diagnosis by genetic investigation may instead lead to the advice of early conception or oocyte harvesting and preservation. In addition, the accumulation and annotation of array comparative genomic hybridization data might, in the near future, lead to the identification of pathogenetic copy number variations and genes involved in POF. Karyotype analysis of both partners is recommended in all couples with recurrent pregnancy loss. No routine genetic test can be recommended so far in patients with PCOS.

  16. Genetic testing in cardiovascular diseases.

    Science.gov (United States)

    Arndt, Anne-Karin; MacRae, Calum A

    2014-05-01

    The review is designed to outline the major developments in genetic testing in the cardiovascular arena in the past year or so. This is an exciting time in genetic testing as whole exome and whole genome approaches finally reach the clinic. These new approaches offer insight into disease causation in families in which this might previously have been inaccessible, and also bring a wide range of interpretative challenges. Among the most significant recent findings has been the extent of physiologic rare coding variation in the human genome. New disease genes have been identified through whole exome studies in neonatal arrhythmia, congenital heart disease and coronary artery disease that were simply inaccessible with other techniques. This has not only shed light on the challenges of genetic testing at this scale, but has also sharply defined the limits of prior gene-panel focused testing. As novel therapies targeting specific genetic subsets of disease become available, genetic testing will become a part of routine clinical care. The pace of change in sequencing technologies has begun to transform clinical medicine, and cardiovascular disease is no exception. The complexity of such studies emphasizes the importance of real-time communication between the genetics laboratory and genetically informed clinicians. New efforts in data and knowledge management will be central to the continued advancement of genetic testing.

  17. A comprehensive platform for highly multiplexed mammalian functional genetic screens

    Directory of Open Access Journals (Sweden)

    Cheung-Ong Kahlin

    2011-05-01

    Full Text Available Abstract Background Genome-wide screening in human and mouse cells using RNA interference and open reading frame over-expression libraries is rapidly becoming a viable experimental approach for many research labs. There are a variety of gene expression modulation libraries commercially available, however, detailed and validated protocols as well as the reagents necessary for deconvolving genome-scale gene screens using these libraries are lacking. As a solution, we designed a comprehensive platform for highly multiplexed functional genetic screens in human, mouse and yeast cells using popular, commercially available gene modulation libraries. The Gene Modulation Array Platform (GMAP is a single microarray-based detection solution for deconvolution of loss and gain-of-function pooled screens. Results Experiments with specially constructed lentiviral-based plasmid pools containing ~78,000 shRNAs demonstrated that the GMAP is capable of deconvolving genome-wide shRNA "dropout" screens. Further experiments with a larger, ~90,000 shRNA pool demonstrate that equivalent results are obtained from plasmid pools and from genomic DNA derived from lentivirus infected cells. Parallel testing of large shRNA pools using GMAP and next-generation sequencing methods revealed that the two methods provide valid and complementary approaches to deconvolution of genome-wide shRNA screens. Additional experiments demonstrated that GMAP is equivalent to similar microarray-based products when used for deconvolution of open reading frame over-expression screens. Conclusion Herein, we demonstrate four major applications for the GMAP resource, including deconvolution of pooled RNAi screens in cells with at least 90,000 distinct shRNAs. We also provide detailed methodologies for pooled shRNA screen readout using GMAP and compare next-generation sequencing to GMAP (i.e. microarray based deconvolution methods.

  18. [Consent to genetic paternity testing].

    Science.gov (United States)

    Lach, Arkadiusz; Linkowska, Katarzyna; Grzybowski, Tomasz

    2010-01-01

    The present article aims at reviewing the legislation in Poland and other countries concerning the consent to DNA sample collection, with the special reference to genetic relatedness analyses (including paternity tests) in anonymous samples of biological materials. The Polish legislator has not regulated this issue in a direct manner. Therefore, in view of progressing commercialization of genetic paternity tests, it is necessary to undertake legislative actions towards regulation of DNA tests admissibility, both in civil proceedings and by commission of private individuals.

  19. Genetic testing in domestic cats.

    Science.gov (United States)

    Lyons, Leslie A

    2012-12-01

    Varieties of genetic tests are currently available for the domestic cat that support veterinary health care, breed management, species identification, and forensic investigations. Approximately thirty-five genes contain over fifty mutations that cause feline health problems or alterations in the cat's appearance. Specific genes, such as sweet and drug receptors, have been knocked-out of Felidae during evolution and can be used along with mtDNA markers for species identification. Both STR and SNP panels differentiate cat race, breed, and individual identity, as well as gender-specific markers to determine sex of an individual. Cat genetic tests are common offerings for commercial laboratories, allowing both the veterinary clinician and the private owner to obtain DNA test results. This article will review the genetic tests for the domestic cat, and their various applications in different fields of science. Highlighted are genetic tests specific to the individual cat, which are a part of the cat's genome.

  20. Forward genetic screen for auxin-deficient mutants by cytokinin.

    Science.gov (United States)

    Wu, Lei; Luo, Pan; Di, Dong-Wei; Wang, Li; Wang, Ming; Lu, Cheng-Kai; Wei, Shao-Dong; Zhang, Li; Zhang, Tian-Zi; Amakorová, Petra; Strnad, Miroslav; Novák, Ondřej; Guo, Guang-Qin

    2015-07-06

    Identification of mutants with impairments in auxin biosynthesis and dynamics by forward genetic screening is hindered by the complexity, redundancy and necessity of the pathways involved. Furthermore, although a few auxin-deficient mutants have been recently identified by screening for altered responses to shade, ethylene, N-1-naphthylphthalamic acid (NPA) or cytokinin (CK), there is still a lack of robust markers for systematically isolating such mutants. We hypothesized that a potentially suitable phenotypic marker is root curling induced by CK, as observed in the auxin biosynthesis mutant CK-induced root curling 1 / tryptophan aminotransferase of Arabidopsis 1 (ckrc1/taa1). Phenotypic observations, genetic analyses and biochemical complementation tests of Arabidopsis seedlings displaying the trait in large-scale genetic screens showed that it can facilitate isolation of mutants with perturbations in auxin biosynthesis, transport and signaling. However, unlike transport/signaling mutants, the curled (or wavy) root phenotypes of auxin-deficient mutants were significantly induced by CKs and could be rescued by exogenous auxins. Mutants allelic to several known auxin biosynthesis mutants were re-isolated, but several new classes of auxin-deficient mutants were also isolated. The findings show that CK-induced root curling provides an effective marker for discovering genes involved in auxin biosynthesis or homeostasis.

  1. Genetic Screening for Familial Gastric Cancer

    Directory of Open Access Journals (Sweden)

    Oliveira Carla

    2004-05-01

    Full Text Available Abstract Approximately 10% of gastric cancer cases show familial clustering but only 1-3% of gastric carcinomas arise as a result of inherited gastric cancer predisposition syndromes. Direct proof that Hereditary Gastric Cancer a genetic disease with a germline gene defect has come from the demonstration of co-segregation of germline E-cadherin (CDH1 mutations with early onset diffuse gastric cancer in families with an autosomal dominant pattern of inheritance (HDGC. E-cadherin is a transmembrane calcium-dependent cell-adhesion molecule involved in cell-junction formation and the maintenance of epithelial integrity. In this review, we describe frequency and type of CDH1 mutations in sporadic and familial gastric cancer. Further we demonstrate the functional significance of some CDH1 germline missense mutations found in HDGC. We also discuss the CDH1 polymorphisms that have been associated to gastric cancer. We report other types of malignancies associated to HDGC, besides diffuse gastric cancer. Moreover, we review the data available on putative alternative candidate genes screened in familial gastric cancer. Finally, we briefly discuss the role of low-penetrance genes and Helicobacter pylori in gastric cancer. This knowledge is a fundamental step towards accurate genetic counselling, in which a highly specialised pre-symptomatic therapeutic intervention should be offered.

  2. Stool Testing for Colorectal Cancer Screening.

    Science.gov (United States)

    Robertson, Douglas J; Imperiale, Thomas F

    2015-10-01

    Colorectal cancer (CRC) screening has been shown to reduce CRC incidence and mortality and is widely recommended. However, despite the demonstrated benefits of screening and ongoing efforts to improve screening rates, a large percentage of the population remains unscreened. Noninvasive stool based tests offer great opportunity to enhance screening uptake. The evidence supporting the use of both fecal immunochemical testing (FIT) and stool DNA (sDNA) has been growing rapidly and both tests are now commercially available for use. Other stool biomarkers (eg, RNA and protein based) are also actively under study both for use independently and as adjuncts to the currently available tests. This mini review provides current, state of the art knowledge about noninvasive stool based screening. It includes a more detailed examination of those tests currently in use (ie, FIT and sDNA) but also provides an overview of stool testing options under development (ie, protein and RNA).

  3. Prenatal Genetic Diagnostic Tests

    Science.gov (United States)

    ... are offered to all pregnant women. What is amniocentesis? Amniocentesis is a diagnostic test. It usually is done ... a very small chance of pregnancy loss with amniocentesis. Leakage of amniotic fluid and slight bleeding can ...

  4. The Accuracy of Three Developmental Screening Tests.

    Science.gov (United States)

    Glascoe, Frances Page; Byrne, Karen E.

    1993-01-01

    The accuracy of 3 developmental screening tests administered to 89 young children was compared. The Battelle Developmental Inventory Screening Test was more accurate than the Academic Scale of the Developmental Profile-II and the Denver-II, identifying correctly 72% of children with difficulties and 76% of children without diagnoses. (Author/JDD)

  5. Screening Tests for Birth Defects

    Science.gov (United States)

    ... 21 (Down syndrome) . Other trisomies include trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) . A monosomy is ... which there is an extra chromosome. Trisomy 13 (Patau Syndrome): A genetic disorder that causes serious heart defects ...

  6. Actuarial considerations on genetic testing.

    Science.gov (United States)

    Le Grys, D J

    1997-08-29

    In the UK the majority of life insurers employ relatively liberal underwriting standards so that people can easily gain access to life assurance cover. Up to 95% of applicants are accepted at standard terms. If genetic testing becomes widespread then the buying habits of the public may change. Proportionately more people with a predisposition to major types of disease may take life assurance cover while people with no predisposition may take proportionately less. A model is used to show the possible effect. However, the time-scales are long and the mortality of assured people is steadily improving. The change in buying habits may result in the rate of improvement slowing down. In the whole population, the improvement in mortality is likely to continue and could improve faster if widespread genetic testing results in earlier diagnosis and treatment. Life insurers would not call for genetic tests and need not see the results of previous tests except for very large sums assured. In the UK, life insurers are unlikely to change their underwriting standards, and are extremely unlikely to bring in basic premium rating systems that give discounts on the premium or penalty points according to peoples genetic profile. The implications of widespread genetic testing on medical insurance and some health insurance covers may be more extreme.

  7. Technical Update: Preimplantation Genetic Diagnosis and Screening.

    Science.gov (United States)

    Dahdouh, Elias M; Balayla, Jacques; Audibert, François; Wilson, R Douglas; Audibert, François; Brock, Jo-Ann; Campagnolo, Carla; Carroll, June; Chong, Karen; Gagnon, Alain; Johnson, Jo-Ann; MacDonald, William; Okun, Nanette; Pastuck, Melanie; Vallée-Pouliot, Karine

    2015-05-01

    Objectif : Mettre à jour et passer en revue les techniques et les indications du diagnostic génétique préimplantatoire et du dépistage génétique préimplantatoire. Options : Discussion au sujet des aspects techniques et génétiques des techniques génésiques préimplantatoires, particulièrement en ce qui concerne celles qui font appel aux nouvelles technologies cytogénétiques et à la biopsie au stade de l’embryon. Issues : Les issues cliniques obtenues par les techniques génésiques à la suite du recours au diagnostic génétique préimplantatoire et au dépistage génétique préimplantatoire sont incluses. La présente mise à jour ne traite pas en détail des issues indésirables qui ont été signalées en association avec les technologies de procréation assistée. Résultats : La littérature publiée a été récupérée par l’intermédiaire de recherches menées dans Medline et The Cochrane Library en avril 2014 au moyen d’un vocabulaire contrôlé (« aneuploidy », « blastocyst/physiology », « genetic diseases », « preimplantation diagnosis/methods », « fertilization in vitro ») et de mots clés (p. ex. « preimplantation genetic diagnosis », « preimplantation genetic screening », « comprehensive chromosome screening », « aCGH », « SNP microarray », « qPCR » et « embryo selection ») appropriés. Les résultats ont été restreints aux analyses systématiques, aux études observationnelles et aux essais comparatifs randomisés / essais cliniques comparatifs publiés en anglais entre 1990 et avril 2014. Aucune restriction n’a été imposée en matière de langue. Les recherches ont été mises à jour de façon régulière et intégrées à la directive clinique jusqu’en janvier 2015. Des publications additionnelles ont été identifiées à partir des bibliographies des articles récupérés. La littérature grise (non publiée) a été identifiée par l’intermédiaire de

  8. Screening of a Test Charge in Plasma

    Institute of Scientific and Technical Information of China (English)

    XIE Bai-Song; WANG Rong

    2005-01-01

    Nonlinear screening of a test charge in plasma by electrons trapped or untrapped is studied. The obtained results are in rigorous estimations mathematically in comparison with the corresponding Debye screening forms.Meanwhile their validity is physically discussed and some confusions in literature are clarified.

  9. Moving up the slippery slope: mandated genetic screening on Cyprus.

    Science.gov (United States)

    Cowan, Ruth Schwartz

    2009-02-15

    Many social scientists and bioethicists have argued that genetic screening is a new form of eugenics. Examination of the development of the quasi-mandated screening program for beta-thalassemia in the Republic of Cyprus (1970-1984) demonstrates that there is nothing eugenic about modern genetic screening practices. The Cypriot screening program involves mandated premarital carrier screening, voluntary prenatal diagnosis (originally through fetoscopy, now through CVS), and voluntary termination of afflicted pregnancies-all at public expense. In the Republic of Cyprus, the mandating agency for genetic screening is the established church, so this examination also demonstrates that religious authorities with profound objections to abortion can balance that moral precept against others, such as the imperative to reduce suffering that sometimes conflict with it. (c) 2009 Wiley-Liss, Inc.

  10. Nonprofit Groups Offer Genetic Testing for Jewish Students

    Science.gov (United States)

    Supiano, Beckie

    2008-01-01

    This article describes how nonprofit organizations like Hillel are offering free genetic testing for Jewish college students. A growing number of colleges, including Pittsburgh, Brandeis University, and Columbia University are offering students free or reduced-cost screenings for diseases common to Jewish population. Genetic diseases common to…

  11. 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 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...... studies on attitudes towards genetic testing as well as in the health care context, e.g. in genetic counselling....

  12. Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methods

    Directory of Open Access Journals (Sweden)

    Hollands Gareth J

    2012-09-01

    Full Text Available Abstract Background Continuing developments in genetic testing technology together with research revealing gene-disease associations have brought closer the potential for genetic screening of populations. A major concern, as with any screening programme, is the response of the patient to the findings of screening, whether the outcome is positive or negative. Such concern is heightened for genetic testing, which it is feared may elicit stronger reactions than non-genetic testing. Methods This paper draws on thematic analysis of 113 semi-structured interviews with 39 patients being tested for familial hypercholesterolaemia (FH, an inherited predisposition to early-onset heart disease. It examines the impact of disease risk assessments based on both genetic and non-genetic information, or solely non-genetic information. Results The impact of diagnostic testing did not seem to vary according to whether or not genetic information was used. More generally, being given a positive or negative diagnosis of FH had minimal discernible impact on people's lives as they maintained the continuity of their beliefs and behaviour. Conclusions The results suggest that concerns about the use of genetic testing in this context are unfounded, a conclusion that echoes findings from studies in this and other health contexts.

  13. Genetic testing by cancer site: endocrine system.

    Science.gov (United States)

    Pilarski, Robert; Nagy, Rebecca

    2012-01-01

    Numerous hereditary syndromes, caused by mutations in multiple tumor suppressor genes and oncogenes, can cause tumors in organs of the endocrine system. The primary syndromes (and genes) addressed here include multiple endocrine neoplasia types 1 and 2 (MEN1 and RET genes), Cowden syndrome (PTEN), hereditary pheochromocytoma/paraganglioma syndromes (multiple genes), and von Hippel-Lindau disease (VHL). Clinical genetic testing is available for each of these syndromes and is generally directed to individuals with endocrine or other tumors and additional features suggestive of a hereditary syndrome. However, for some endocrine tumors, the proportion because of heredity is so high that genetic testing may be appropriate for all affected individuals. Management for hereditary cases typically involves aggressive screening and/or surgical protocols, starting at young ages to minimize morbidity and mortality. Endocrine tumors can be less commonly seen in a number of other hereditary syndromes (eg, neurofibromatosis), which are not reviewed in this section.

  14. The art and design of genetic screens: maize.

    Science.gov (United States)

    Candela, Héctor; Hake, Sarah

    2008-03-01

    Maize (Zea mays) is an excellent model for basic research. Genetic screens have informed our understanding of developmental processes, meiosis, epigenetics and biochemical pathways--not only in maize but also in other cereal crops. We discuss the forward and reverse genetic screens that are possible in this organism, and emphasize the available tools. Screens exploit the well-studied behaviour of transposon systems, and the distinctive chromosomes allow an integration of cytogenetics into mutagenesis screens and analyses. The imminent completion of the maize genome sequence provides the essential resource to move seamlessly from gene to phenotype and back.

  15. Analysis of the Denver Developmental Screening Test.

    Science.gov (United States)

    Sabin, James N.

    1978-01-01

    In an effort to validate the Denver Developmental Screening Test (DDST), the scores were compared with selected demographic, health history, and physical examination variables of migrant and seasonal farmworkers' preschool children in Colorado. (NQ)

  16. To Test or Not to Test? The Role of Attitudes, Knowledge, and Religious Involvement among U.s. Adults on Intent-to-Obtain Adult Genetic Testing

    Science.gov (United States)

    Botoseneanu, Anda; Alexander, Jeffrey A.; Banaszak-Holl, Jane

    2011-01-01

    Genetic testing can advance cancer prevention if current screening behaviors improve. Increased prevalence of high-risk genotypes within specific religious groups, use of religious venues for recruiting to genetic screening, and ethical-religious considerations argue for exploring the role of religiosity in forming genetic testing decisions. This…

  17. The value of cardiac genetic testing.

    Science.gov (United States)

    Ingles, Jodie; Semsarian, Christopher

    2014-08-01

    Genetic testing is an important and necessary aspect of the management of families with cardiac genetic conditions. Commercial genetic tests are available for most cardiac genetic diseases, and increasing uptake amongst patients has contributed to a vastly improved knowledge of the genetic basis of these diseases. The incredible advances in genetic technologies have translated to faster, more comprehensive, and inexpensive commercial genetic tests and has completely changed the landscape of commercial genetic testing in recent years. While there are enormous challenges, mostly relating to interpretation of variants, the value of a genetic diagnosis should not be underestimated. In almost all cases, the single greatest utility is for the predictive genetic testing of family members. This review will describe the value of cardiac genetic testing in the current climate of rapid genetic advancements. Copyright © 2014 Elsevier Inc. All rights reserved.

  18. 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.

  19. Genetic dissection of mammalian ERAD through comparative haploid and CRISPR forward genetic screens

    DEFF Research Database (Denmark)

    Timms, Richard T.; Menzies, Sam A.; Tchasovnikarova, Iva A.

    2016-01-01

    The application of forward genetic screens to cultured human cells represents a powerful method to study gene function. The repurposing of the bacterial CRISPR/Cas9 system provides an effective method to disrupt gene function in mammalian cells, and has been applied to genome-wide screens. Here, we...... compare the efficacy of genome-wide CRISPR/Cas9-mediated forward genetic screens versus gene-trap mutagenesis screens in haploid human cells, which represent the existing ‘gold standard’ method. This head-to-head comparison aimed to identify genes required for the endoplasmic reticulum....../3-associated disulphide reductase. Genome-wide CRISPR/Cas9-mediated screens together with haploid genetic screens provide a powerful addition to the forward genetic toolbox....

  20. [A novel approach to techniques in genetic testing for cancer].

    Science.gov (United States)

    Kato, Jun-ichi

    2014-04-01

    In molecular targeted drug therapy, genetic screening is carried out to identify the existence of target genes that are specifically expressed in cancer cells. Conventional methods for detecting the mutation of genes in cancer cells through the use of purified DNA is time consuming, especially in the case of the enzymatic treatment of pathological specimens, and it is difficult to finish all these protocols on the same day. Also, depending on the condition of the patients, it may be difficult to perform surgery or biopsy, and pathological specimens are not always obtainable. Thus, sometimes genetic screening using purified DNA and the enzymatic treatment of pathological specimens cannot be performed. We have successfully solved these problems using i-densy, a genetic analysis device, and two different methods of genetic testing for cancer. The first is a method which, without extracting DNA, uses simply pretreated pathological specimens for genetic screening. Using deparaffinized specimens that have only been heat-treated for a short period of time, we were able to obtain the exact same results as if we had extracted DNA. The second is the highly specific genetic screening technique, the MBP-QP method. Using this method, we were able to confirm the detection of genetic mutation from the DNA of blood plasma. It is now possible to screen for the mutation of genes in cancer cells using just a blood sample from patients without using tissue or cells, which also has little burden on the patient.

  1. The art and design of genetic screens: mouse.

    Science.gov (United States)

    Kile, Benjamin T; Hilton, Douglas J

    2005-07-01

    Humans are mammals, not bacteria or plants, yeast or nematodes, insects or fish. Mice are also mammals, but unlike gorilla and goat, fox and ferret, giraffe and jackal, they are suited perfectly to the laboratory environment and genetic experimentation. In this review, we will summarize the tools, tricks and techniques for executing forward genetic screens in the mouse and argue that this approach is now accessible to most biologists, rather than being the sole domain of large national facilities and specialized genetics laboratories.

  2. Applying theological developments to bioethical issues such as genetic screening.

    Science.gov (United States)

    Mallia, Pierre; ten Have, Henk

    2005-01-01

    Catholic movements within the centre of Roman Catholic doctrine recently have discussed Trinitarian theology as applied to sciences, arts, economics, health and other social areas. We explore the possibilities Trinitarian theology offers to bioethical debate, concentrating particularly on genetic screening and testing. It is important therefore to analyse the philosophical implications of this approach onto the bioethical world, where much disagreement occurs on fundamental issues. It is Catholic basic teaching to recognize and see God's hand in plurality, not merely as a cliche and then doing what we feel is right, but to recognize how to live in a pluralistic world. We recognize, in agreement with these theologians, that in order for a Trinitarian mode of understanding to be used by those doing bioethical debate, there is a need to depart from fundamentalism.

  3. Big screens with small RNAs : loss of function genetic screens to identify novel cancer genes

    NARCIS (Netherlands)

    Mullenders, J.

    2009-01-01

    This thesis described the construction and screening of one of the first large scale RNAi libraries for use in human cells. Functional genetic screens with this library have led to the identification of novel cancer genes. These cancer genes function in several pathways including the p53 tumor suppr

  4. Disparities in Cancer Genetic Risk Assessment and Testing.

    Science.gov (United States)

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

    2016-07-01

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

  5. The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss

    Science.gov (United States)

    2013-01-01

    Objective: To explore the future potential of genetic screening to detect newborns at risk of childhood-onset hearing loss. Design: An expert led discussion of current and future developments in genetic technology and the knowledge base of genetic hearing loss to determine the viability of genetic screening and the implications for screening policy. Results and Discussion: Despite increasing pressure to adopt genetic technologies, a major barrier for genetic screening in hearing loss is the uncertain clinical significance of the identified mutations and their interactions. Only when a reliable estimate of the future risk of hearing loss can be made at a reasonable cost, will genetic screening become viable. Given the speed of technological advancement this may be within the next 10 years. Decision-makers should start to consider how genetic screening could augment current screening programmes as well as the associated data processing and storage requirements. Conclusion: In the interim, we suggest that decision makers consider the benefits of (1) genetically testing all newborns and children with hearing loss, to determine aetiology and to increase knowledge of the genetic causes of hearing loss, and (2) consider screening pregnant women for the m.1555A> G mutation to reduce the risk of aminoglycoside antibiotic-associated hearing loss. PMID:23131088

  6. Genetic Testing in the Multidisciplinary Management of Melanoma.

    Science.gov (United States)

    Rashid, Omar M; Zager, Jonathan S

    2015-10-01

    Melanoma is increasing in incidence and represents an aggressive type of cancer. Efforts have focused on identifying genetic factors in melanoma carcinogenesis to guide prevention, screening, early detection, and targeted therapy. This article reviews the hereditary risk factors associated with melanoma and the known molecular pathways and genetic mutations associated with this disease. This article also explores the controversies associated with genetic testing and the latest advances in identifying genetic targets in melanoma, which offer promise for future application in the multidisciplinary management of melanoma.

  7. Obtaining genetic testing in pediatric epilepsy.

    Science.gov (United States)

    Ream, Margie A; Patel, Anup D

    2015-10-01

    The steps from patient evaluation to genetic diagnosis remain complicated. We discuss some of the genetic testing methods available along with their general advantages and disadvantages. We briefly review common pediatric epilepsy syndromes with strong genetic association and provide a potentially useful algorithm for genetic testing in drug-resistant epilepsy. We performed an extensive literature review of available information as it pertains to genetic testing and genetics in pediatric epilepsy. If a genetic disorder is suspected as the cause of epilepsy, based on drug resistance, family history, or clinical phenotype, timely diagnosis may reduce overall cost, limit the diagnostic odyssey that can bring much anxiety to families, improve prognostic accuracy, and lead to targeted therapy. Interpretation of complicated results should be performed only in collaboration with geneticists and genetic counselors, unless the ordering neurologist has a strong background in and understanding of genetics. Genetic testing can play an important role in the care provided to patients with epilepsy.

  8. The Influence of Screening for Precancerous Lesions on Family-Based Genetic Association Tests: An Example of Colorectal Polyps and Cancer.

    Science.gov (United States)

    Schmit, Stephanie L; Figueiredo, Jane C; Cortessis, Victoria K; Thomas, Duncan C

    2015-10-15

    Unintended consequences of secondary prevention include potential introduction of bias into epidemiologic studies estimating genotype-disease associations. To better understand such bias, we simulated a family-based study of colorectal cancer (CRC), which can be prevented by resecting screen-detected polyps. We simulated genes related to CRC development through risk of polyps (G1), risk of CRC but not polyps (G2), and progression from polyp to CRC (G3). Then, we examined 4 analytical strategies for studying diseases subject to secondary prevention, comparing the following: 1) CRC cases with all controls, without adjusting for polyp history; 2) CRC cases with controls, adjusting for polyp history; 3) CRC cases with only polyp-free controls; and 4) cases with either CRC or polyps with controls having neither. Strategy 1 yielded estimates of association between CRC and each G that were not substantially biased. Strategies 2-4 yielded biased estimates varying in direction according to analysis strategy and gene type. Type I errors were correct, but strategy 1 provided greater power for estimating associations with G2 and G3. We also applied each strategy to case-control data from the Colon Cancer Family Registry (1997-2007). Generally, the best analytical option balancing bias and power is to compare all CRC cases with all controls, ignoring polyps. © The Author 2015. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  9. Prostate Cancer Screening: Should You Get a PSA Test?

    Science.gov (United States)

    Prostate cancer screening: Should you get a PSA test? Making the decision to have a PSA test depends on a ... make a good decision. By Mayo Clinic Staff Cancer screening tests — including the prostate-specific antigen (PSA) test ...

  10. The use of genetic testing in infants who do not pass the neonatal hearing screening%新生儿听力筛查未通过者的基因诊断

    Institute of Scientific and Technical Information of China (English)

    李琦; 宋建敏; 刘亚青; 方如平; 戴朴

    2014-01-01

    目的:进行新生儿听力筛查未通过者的基因诊断,探讨临床应用的价值。方法对110例42天OAE复筛双耳未通过的儿童进行GJB2基因,SLC26A4 c.919-2A>G、H723R,mtDNA1494和1555突变分析。结果发现和耳聋基因突变有关者23例,占检测者的20.9%(23/110),其中纯合或者复合杂合者6例,线粒体突变1例。发现GJB2致病纯合突变和复合杂合突变4例,杂合突变10例,发现出SLC26A4基因纯合突变和复合杂合突变2例,杂合突变6例,发现1555A>G突变1例。结论新生儿听力筛查未通过者的基因诊断在儿童感音神经性耳聋的早期诊断和干预方面有一定作用。%Objective The current research aims is to investigate the clinical value of genetic testing in infants who do not pass the neonatal hearing screening and introduce together etiologic and audiological diagnosis of newborns. Methods We performed genetic testing for coding region of GJB2 gene,SLC26A4 c.919-2 and H723R mutation,mtDNA1494 and 1555 mutation in 110 newborns who do not pass the neonatal hearing screening in 42 days. Results 23 (20.9%) infants were detected to carry at least one mutation allele in GJB2, SLC26A4 or mitochondrial DNA. 6 (5.45%) infants were positive for hearing loss caused by GJB2 or SLC26A4 mutations (homozygote or compound heterozygote). 16(14.5%) infants are heterozy-gous of various genes. 1(0.91‰) infants had the pathological mitochondrial DNA mutation. Conclusions Detection of patho-genic mutations for hearing loss is bringing the possibility to identify children with non-syndromic deafness at an early stage. As a consequence, it will improve the current diagnosis and therapeutical option.

  11. Using Cognitive Screening Tests in Audiology.

    Science.gov (United States)

    Shen, Jing; Anderson, Melinda C; Arehart, Kathryn H; Souza, Pamela E

    2016-12-01

    The population of the United States is aging. Those older adults are living longer than ever and have an increased desire for social participation. As a result, audiologists are likely to see an increased demand for service by older clients whose communication difficulty is caused by a combination of hearing loss and cognitive impairment. For these individuals, early detection of mild cognitive impairment is critical for providing timely medical intervention and social support. This tutorial provides information about cognition of older adults, mild cognitive impairment, and cognitive screening tests, with the purpose of assisting audiologists in identifying and appropriately referring potential cases of cognitive impairment. Topics addressed also include how to administer cognitive screening tests on individuals with hearing loss, how to use test results in audiology practice, and the potential of using cognitive screening tests for evaluating the benefit of clinical interventions. As health care professionals who serve the aging population, audiologists are likely to encounter cases of undiagnosed cognitive impairment. In order to provide timely referral for medical assistance as well as an optimized individual outcome of audiologic interventions, audiologists should be trained to recognize an abnormality in older clients' cognitive status.

  12. Genetic dissection of mammalian ERAD through comparative haploid and CRISPR forward genetic screens

    DEFF Research Database (Denmark)

    Timms, Richard T.; Menzies, Sam A.; Tchasovnikarova, Iva A.;

    2016-01-01

    The application of forward genetic screens to cultured human cells represents a powerful method to study gene function. The repurposing of the bacterial CRISPR/Cas9 system provides an effective method to disrupt gene function in mammalian cells, and has been applied to genome-wide screens. Here, ...

  13. 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)

  14. 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)

  15. Genetic Testing: MedlinePlus Health Topic

    Science.gov (United States)

    ... Glitches (National Institutes of Health) Genetic Mapping (National Human Genome Research Institute) Also in Spanish Clinical Trials ClinicalTrials.gov: Genetic Testing (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National ...

  16. [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.

  17. 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

  18. Chemical genetics and drug screening in Drosophila cancer models

    Institute of Scientific and Technical Information of China (English)

    Mara Gladstone; Tin Tin Su

    2011-01-01

    Drug candidates often fail in preclinical and clinical testing because of reasons of efficacy and/or safety.It would be time- and cost-efficient to have screening models that reduce the rate of such false positive candidates that appear promising at first but fail later.In this regard,it would be particularly useful to have a rapid and inexpensive whole animal model that can pre-select hits from high-throughput screens but before testing in costly rodent assays.Drosophila melanogaster has emerged as a potential whole animal model for drug screening.Of particular interest have been drugs that must act in the context of multi-cellularity such as those for neurological disorders and cancer.A recent review provides a comprehensive summary of drug screening in Drosophila,but with an emphasis on neurodegenerative disorders.Here,we review Drosophila screens in the literature aimed at cancer therapeutics.

  19. The Case against Preadoption Genetic Testing.

    Science.gov (United States)

    Freundlich, Madelyn D.

    1998-01-01

    Examines the medical, psychosocial, and ethical considerations concerning presymptomatic genetic testing in evaluating children for adoption. Offers an ethical framework for rejecting such a practice. (JPB)

  20. A new era in clinical genetic testing for hypertrophic cardiomyopathy.

    Science.gov (United States)

    Wheeler, Matthew; Pavlovic, Aleksandra; DeGoma, Emil; Salisbury, Heidi; Brown, Colleen; Ashley, Euan A

    2009-12-01

    Building on seminal studies of the last 20 years, genetic testing for hypertrophic cardiomyopathy (HCM) has become a clinical reality in the form of targeted exonic sequencing of known disease-causing genes. This has been driven primarily by the decreasing cost of sequencing, but the high profile of genome-wide association studies, the launch of direct-to-consumer genetic testing, and new legislative protection have also played important roles. In the clinical management of hypertrophic cardiomyopathy, genetic testing is primarily used for family screening. An increasing role is recognized, however, in diagnostic settings: in the differential diagnosis of HCM; in the differentiation of HCM from hypertensive or athlete's heart; and more rarely in preimplantation genetic diagnosis. Aside from diagnostic clarification and family screening, use of the genetic test for guiding therapy remains controversial, with data currently too limited to derive a reliable mutation risk prediction from within the phenotypic noise of different modifying genomes. Meanwhile, the power of genetic testing derives from the confidence with which a mutation can be called present or absent in a given individual. This confidence contrasts with our more limited ability to judge the significance of mutations for which co-segregation has not been demonstrated. These variants of "unknown" significance represent the greatest challenge to the wider adoption of genetic testing in HCM. Looking forward, next-generation sequencing technologies promise to revolutionize the current approach as whole genome sequencing will soon be available for the cost of today's targeted panel. In summary, our future will be characterized not by lack of genetic information but by our ability to effectively parse it.

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

    Science.gov (United States)

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

  2. Genetic screening of the inherited Ichtyosis causative mutation in Chianina cattle

    Directory of Open Access Journals (Sweden)

    Luciano Molteni

    2010-01-01

    Full Text Available Inherited Ichthyosis, Chianina, Causative mutation, Genetic screening.Inherited Ichthyosis is a genetic disorder reported in both humans and animals, including bovines. Two inherited forms were reported in cattle and both are transmitted in an autosomal recessive manner: Ichthyosis Fetalis (IF and Ichthyosis Congenita (IC. A causative mutation of IF in Chianina cattle was recently indentified in the ABC12 gene. This work reports the first genetic screening using this recently available genetic test on Chianina cattle. Tests were performed on both the population of farm breeding selected young bulls (131 samples randomly chosen and high breeding value sires (16 samples. Results confirm a low total prevalence of carriers in the selected sire population (2/131; 1.5% and the presence of the disease allele among the high value selected sires (1/16; 6.3%. This result strengthens the importance to continue the genetic screening program, particularly in performance tested bulls approved for use in AI or natural service.

  3. 42 CFR 410.17 - Cardiovascular disease screening tests.

    Science.gov (United States)

    2010-10-01

    ... 42 Public Health 2 2010-10-01 2010-10-01 false Cardiovascular disease screening tests. 410.17... § 410.17 Cardiovascular disease screening tests. (a) Definition. For purposes of this subpart, the... Part B covers cardiovascular disease screening tests when ordered by the physician who is treating...

  4. What Is Genetic Ancestry Testing?

    Science.gov (United States)

    ... DNA is packaged in chromosomes within the cell nucleus, cell structures called mitochondria also have a small ... range of genetic variation due to the group's size and history, most members share many SNPs, and ...

  5. Towards single screening tests for brucellosis

    DEFF Research Database (Denmark)

    Nielsen, K.; Smith, P.; Yu, W.

    2005-01-01

    This paper describes an indirect enzyme-linked immunosorbent assay (I-ELISA) and a fluorescence polarisation assay (FPA), each capable of detecting antibody in several species of hosts to smooth and rough members of the genus Brucella. The I-ELISA uses a mixture of smooth lipopolysaccharide (SLPS...... than did I-ELISA procedures using each individual antigen separately. Similarly, the assay using combined antigens detected antibody in slightly fewer animals not exposed to Brucella sp. When a universal cutoff of 10% positivity was used (relative to strongly positive control sera of each species......-ELISA and the FPA with combined antigens were suitable as screening tests for all species of Brucella in the animal species tested....

  6. Advantages of the Quadruple Screen over noninvasive prenatal testing.

    Science.gov (United States)

    Keller, Nathan A; Rijshinghani, Asha

    2016-03-01

    Noninvasive prenatal testing (NIPT) is becoming increasingly popular with some offering it as a primary screen option in all patients in place of serum screening. Serum screening offers insight into placental function, which NIPT does not. Abnormal levels of analytes in the serum screen have been associated with pregnancy complications.

  7. Causal attributions of obese men and women in genetic testing: implications of genetic/biological attributions.

    Science.gov (United States)

    Hilbert, Anja; Dierk, Jan-Michael; Conradt, Matthias; Schlumberger, Pia; Hinney, Anke; Hebebrand, Johannes; Rief, Winfried

    2009-09-01

    The present study sought to investigate genetic/biological attributions of obesity, their associations with a predisposition to obesity and their crossectional and longitudinal implications for weight regulation in obese individuals presenting for genetic testing and counselling. A total of 421 obese men and women underwent psychological and anthropometric assessment and a mutation screen of the melanocortin-4 receptor gene. At study entry, women revealed more genetic/biological attributions than men on the Revised Illness Perception Questionnaire adapted to obesity (86.2% versus 59.7%). Genetic/biological attributions of obesity were associated in both sexes with a family history of obesity, assessed through Stunkard's Figure Rating Scale. In both sexes, genetic/biological attributions were unrelated to weight regulation beliefs and behaviour (i.e. self-efficacy, controllability beliefs, restrained eating and physical activity), assessed through standardised questionnaires or interview at baseline and at six-month follow-up. In addition, causal attributions and weight regulation beliefs and behaviour were not predictive of body mass index at six-month follow-up. Overall, the results indicate that causal attributions of obesity to genetic/biological factors in obese individuals presenting for genetic screening and counselling are crossectionally and longitudinally unrelated to weight regulation and longer-term weight outcome. Those who attribute their obesity to genetic/biological factors likely have a familial obesity risk.

  8. Attitudes of families affected by adrenoleukodystrophy toward prenatal diagnosis, presymptomatic and carrier testing, and newborn screening.

    Science.gov (United States)

    Schaller, Jean; Moser, Hugo; Begleiter, Michael L; Edwards, Janice

    2007-01-01

    Families affected by adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) were surveyed to elicit attitudes toward prenatal, presymptomatic and carrier testing, and newborn screening in order to determine the level of support that these families have for current and future genetic testing protocols. Identifying attitudes toward genetic testing, including newborn screening, is especially important because of new data regarding therapeutic options and the possible addition of ALD to newborn screening regimens. The Kennedy Krieger Institute (KKI) database identified 327 prospective participants. Families that were willing to participate in the study received an anonymous questionnaire for completion. Frequencies were generated using SPSS software for Windows. Questionnaires were returned from 128 families for a response rate of 39%. Sons who were at risk for inheriting the ALD gene would be tested by 93% of respondents, and 89.3% would ideally have this testing performed prenatally or in the newborn period. Eighty-nine percent would test an at-risk daughter and 51.2% would ideally have this testing performed prenatally or shortly after birth. ALD newborn screening for males and females was supported by 90% of respondents. If newborn screening for ALD/AMN commences, or there is a new diagnosis of ALD, genetic professionals need to be prepared to have extensive conversations with families regarding the benefits and limitations of current therapeutic and genetic testing options.

  9. 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…

  10. Direct-to-Consumer Genetic Tests

    Science.gov (United States)

    ... Search form Search Vea esta página en español Direct-to-Consumer Genetic Tests Related Items Anatomy of ... DTC genetic tests often include dietary advice and sales offers for “customized” dietary supplements and cosmetics. The ...

  11. 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…

  12. Analysis of thalassemia screening and genetic test in 423 pregnant women%423例孕妇地中海贫血筛查及基因检测结果分析和临床意义

    Institute of Scientific and Technical Information of China (English)

    谢建渝; 虞柯静; 罗文梅; 董国强; 徐正会

    2014-01-01

    severe thalassemia .Methods Alkaline hemoglobin electrophoresis ,combined with blood test ,red blood cells incubated osmotic fragility test ( fragil-ity test) ,microscopic examination of hemoglobin H inclusions or high performance liquid chromatography (HPLC) a-nalysis of abnormal hemoglobin band ,were performed or screening test .Polymerase chain reaction (PCR) and reverse dot blot (RDB) were used for genetic diagnosis of thalassemia genotyping .Results Among analysis of hemoglobin components ,red blood cell incubated osmotic fragility was positive in 6 cases ,red blood cell volumedistribution width (RDW) was positive in 108 cases ,mean corpuscular volume (MCV) was positive in 60 cases ,of which 48 cases were more than 100 fL ,and 12 cases were less than 80 fL ,and alkaline hemoglobin electrophoresis was positive in 18 ca-ses ,of which 3 cases were less than 96 .50% 15 cases more than 97 .5% .Among 423 cases ,receiving detection ,no case was found to be with abnormal hemoglobin .In 423 cases of outpatient pregnant women ,thalassemia screening positive rate was 4 .26% (18/423) ,includingα-thalassemia for 15 cases ,accounting for 3 .55% (15/423) andβ-thalas-semia for 3 cases ,accounting for 0 .71% (3/423) .Genetic test results indicated that out of 423 pregnant women ,who were screened ,333 cases were with small cell hypochromic anemia (MCV≤80 fL ,MCH<27 pg) .Further examina-tion showed that in these 333 suspected thalassemia cases ,48 cases were with thalassemia ,accounting for 14 .41% , including 24 cases with α- thalassemia ,accounting for 7 .21% (24/333) and 24 cases with β-thalassemia ,accounting for 7 .21% (24/333) .Conclusion Indicating that there might be a high prevalence of thalassemia and thalassemia gene carrier in main area of Chongqing .Therefore ,thalassemia screening and genetic analysis should be performed in pregnant women with small cell hypochromic anemia ,which might be an effective way to reduce birth defects and im-prove the quality of

  13. [Mokken scaling of the Cognitive Screening Test].

    Science.gov (United States)

    Diesfeldt, H F A

    2009-10-01

    The Cognitive Screening Test (CST) is a twenty-item orientation questionnaire in Dutch, that is commonly used to evaluate cognitive impairment. This study applied Mokken Scale Analysis, a non-parametric set of techniques derived from item response theory (IRT), to CST-data of 466 consecutive participants in psychogeriatric day care. The full item set and the standard short version of fourteen items both met the assumptions of the monotone homogeneity model, with scalability coefficient H = 0.39, which is considered weak. In order to select items that would fulfil the assumption of invariant item ordering or the double monotonicity model, the subjects were randomly partitioned into a training set (50% of the sample) and a test set (the remaining half). By means of an automated item selection eleven items were found to measure one latent trait, with H = 0.67 and item H coefficients larger than 0.51. Cross-validation of the item analysis in the remaining half of the subjects gave comparable values (H = 0.66; item H coefficients larger than 0.56). The selected items involve year, place of residence, birth date, the monarch's and prime minister's names, and their predecessors. Applying optimal discriminant analysis (ODA) it was found that the full set of twenty CST items performed best in distinguishing two predefined groups of patients of lower or higher cognitive ability, as established by an independent criterion derived from the Amsterdam Dementia Screening Test. The chance corrected predictive value or prognostic utility was 47.5% for the full item set, 45.2% for the fourteen items of the standard short version of the CST, and 46.1% for the homogeneous, unidimensional set of selected eleven items. The results of the item analysis support the application of the CST in cognitive assessment, and revealed a more reliable 'short' version of the CST than the standard short version (CST14).

  14. 一种筛查中国人遗传性耳聋和氨基糖苷耳毒性易感人群的分子遗传学方法%Development of a molecular screening test for hereditary hearing loss and genetic susceptibility to aminoglycoside toxicity for Chinese population

    Institute of Scientific and Technical Information of China (English)

    Xi-yu HE; Yue-ying WANG; Pu DAI; Jiang GU; Tian-jian CHEN

    2005-01-01

    Objective: To develop a molecular screening test for genetic defects on hearing loss related genes has significant impacts on early identification of hereditary hearing loss and genetic susceptibility to aminoglycoside ototoxicity. Early identification of pre-lingual hearing loss is very important for patient's language development, academic achievement, and social skill. Two common mutations, the 235delC in GJB2 gene and the mutation A1555G in mitochondrial DNA, are included in the newly developed screening panel for Chinese population. Methods: A molecular genetic assay, based on fluorescent labeled multiplex PCR and automatic DNA fragment analyzing techniques, was developed to detect both mutations simultaneously. Results: This assay was able to detect both mutations from patient's samples, and pooled DNA tests, as well as suitable to detect mutation from the DNA extracted from dried blood spot and buccal swab. Conclusion: This assay could be a useful tool for newborn screening and carrier screening for the hereditary hearing loss for the Chinese population.

  15. Uses and Abuses of Developmental Screening and School Readiness Testing.

    Science.gov (United States)

    Meisels, Samuel J.

    1987-01-01

    Analyzes the uses and abuses of the Gesell School Readiness Screening Tests and similar tests. First, discusses developmental screening and readiness tests, then focuses on the Gesell tests, specifically addressing their validity and questioning their current uses. Discusses implications of using readiness tests for assigning children to…

  16. Mammography and Other Screening Tests for Breast Problems

    Science.gov (United States)

    f AQ FREQUENTLY ASKED QUESTIONS FAQ178 GYNECOLOGIC PROBLEMS Mammography and Other Screening Tests for Breast Problems • What ... used to screen for breast problems? • What is mammography? • Why is mammography done? • When should I start ...

  17. Health Assessment of School Children II -- Screening Tests

    Science.gov (United States)

    Eisner, Victor; Oglesby, Allan

    1971-01-01

    The article concludes that adequate screening, and the use of expensive diagnostic procedures (such as medical referral) only for children who have failed a screening test, will result in the most effective use of school health time and funds. (Author)

  18. Factors influencing uptake of familial long QT syndrome genetic testing.

    Science.gov (United States)

    Burns, Charlotte; McGaughran, Julie; Davis, Andrew; Semsarian, Christopher; Ingles, Jodie

    2016-02-01

    Ongoing challenges of clinical assessment of long QT syndrome (LQTS) highlight the importance of genetic testing in the diagnosis of asymptomatic at-risk family members. Effective access, uptake, and communication of genetic testing are critical for comprehensive cascade family screening and prevention of disease complications such as sudden cardiac death. The aim of this study was to describe factors influencing uptake of LQTS genetic testing, including those relating to access and family communication. We show those who access genetic testing are overrepresented by the socioeconomically advantaged, and that although overall family communication is good, there are some important barriers to be addressed. There were 75 participants (aged 18 years or more, with a clinical and/or genetic diagnosis of LQTS; response rate 71%) who completed a survey including a number of validated scales; demographics; and questions about access, uptake, and communication. Mean age of participants was 46 ± 16 years, 20 (27%) were males and 60 (80%) had genetic testing with a causative gene mutation in 42 (70%). Overall uptake of cascade testing within families was 60% after 4 years from proband genetic diagnosis. All participants reported at least one first-degree relative had been informed of their risk, whereas six (10%) reported at least one first-degree relative had not been informed. Those who were anxious or depressed were more likely to perceive barriers to communicating. Genetic testing is a key aspect of care in LQTS families and intervention strategies that aim to improve equity in access and facilitate effective family communication are needed.

  19. What's New in Genetic Testing for Cancer Susceptibility?

    Science.gov (United States)

    Plichta, Jennifer K; Griffin, Molly; Thakuria, Joseph; Hughes, Kevin S

    2016-09-15

    The advent of next-generation sequencing, and its transition further into the clinic with the US Food and Drug Administration approval of a cystic fibrosis assay in 2013, have increased the speed and reduced the cost of DNA sequencing. Coupled with a historic ruling by the Supreme Court of the United States that human genes are not patentable, these events have caused a seismic shift in genetic testing in clinical medicine. More labs are offering genetic testing services; more multigene panels are available for gene testing; more genes and gene mutations are being identified; and more variants of uncertain significance, which may or may not be clinically actionable, have been found. All these factors, taken together, are increasing the complexity of clinical management. While these developments have led to a greater interest in genetic testing, risk assessment, and large-scale population screening, they also present unique challenges. The dilemma for clinicians is how best to understand and manage this rapidly growing body of information to improve patient care. With millions of genetic variants of potential clinical significance and thousands of genes associated with rare but well-established genetic conditions, the complexities of genetic data management clearly will require improved computerized clinical decision support tools, as opposed to continued reliance on traditional rote, memory-based medicine.

  20. Genetic testing for inheritable cardiac channelopathies.

    Science.gov (United States)

    Szepesváry, Eszter; Kaski, Juan Pablo

    2016-05-01

    Cardiac channelopathies are linked to an increased risk of ventricular arrhythmia and sudden death. This article reviews the clinical characteristics and genetic basis of common cardiac ion-channel diseases, highlights some genotype-phenotype correlations, and summarizes genetic testing for inheritable cardiac channelopathies.

  1. 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 ...

  2. Uptake of faecal immunochemical test screening among nonparticipants in a flexible sigmoidoscopy screening programme.

    Science.gov (United States)

    Hol, Lieke; Kuipers, Ernst J; van Ballegooijen, Marjolein; van Vuuren, Anneke J; Reijerink, Jaqueline C I Y; Habbema, Dik J F; van Leerdam, Monique E

    2012-05-01

    Screening programmes based on single modality testing may prevent individuals with a preference for a different test from participating. We conducted a population-based trial to determine whether nonparticipants in flexible sigmoidoscopy (FS) screening were willing to attend faecal immunochemical test (FIT) screening. In total, 8,407 subjects were invited in a primary FS screening programme. Invitees did not know at the time of FS invitation that nonparticipants would be offered FIT screening. A total of 4,407 nonparticipants of FS screening were invited for FIT screening (cut-off 50 ng haemoglobin/ml). The participation rate to FS screening was 31% [95% confidence interval (CI): 30-32%]. Among the FS nonparticipants 25% (CI: 24-26%) did attended FIT screening. The participation rate of the two-stage recruitment for FS and FIT screening was 45% (CI: 44-46%). FIT screenees were older (p = 0.02), more often women (p < 0.001) and had a lower social economic status (p = 0.01) than FS screenees. The detection rate (DR) for advanced adenoma was 3.5% (CI: 2.5-4.8%), and for colorectal cancer (CRC) it was 0.3% (CI: 0.1-0.8%) among participants to FIT screening. The DR of the two-stage recruitment was 6.1% (n = 202) for an advanced adenoma and 0.5% (n = 16) for a CRC. In conclusion, offering FIT screening to nonparticipants in a FS screening programme increases the overall participation rate considerably, as a quarter of nonparticipants of FS screening was willing to attend FIT screening. The participation rate remains lower for primary FIT screening in the same population (62%). Women in the target population were more likely to refuse FS than FIT screening. Countries introducing FS screening should be aware of these preferences. Copyright © 2011 UICC.

  3. Statement of The American Society of Human Genetics on cystic fibrosis carrier screening

    Energy Technology Data Exchange (ETDEWEB)

    1992-12-01

    The identification in 1989 of the cystic fibrosis (CF) gene and its most common mutation immediately raised the possibility of CF carrier detection by DNA analysis. The American Society of Human Genetics (ASHG) issued a statement recommending that CF carrier testing should be made available to individuals with a family history of CF. It was also stated that screening of individuals or couples in the general population should not be offered until the rate of CF carrier detection improves. An additional prerequisite emphasized the need for the establishment of effective educational and counseling programs consistent with previous widely accepted principles. An NIH workshop reached similar conclusions. ASHG recommendations are that screening be limited to individuals with a family history of CF, testing should be accompanied by education and counseling, screening should be voluntary and confidential with appropriate laboratory quality controls, and efforts should be expanded to educate health care providers and the public.

  4. Breast, prostate, and thyroid cancer screening tests and overdiagnosis.

    Science.gov (United States)

    Jung, Minsoo

    2016-12-20

    The purpose of this study was to examine overdiagnosis and overtreatment related to cancer screening and to review relevant reports and studies. A comprehensive search of peer-reviewed and gray literature was conducted for relevant studies published between January 2000 and December 2015 reporting breast, prostate, and thyroid cancer screening tests and overdiagnosis. This study revealed no dichotomy on where screening would lower risk or cause overdiagnosis and overtreatment. Many screening tests did both, that is, at population level, there were both benefit (decreased disease-specific mortality) and harm (overdiagnosis and overtreatment). Therefore, we need to consider a balanced argument with citations for the potential benefits of screening along with the harms associated with screening. Although the benefits and harms can only be tested through randomized trials, important data from cohort studies, diagnostic accuracy studies, and modeling work can help define the extent of benefits and harms in the population. The health care cycle that prompt patients to undergo periodic screening tests is self-reinforcing. In most developed countries, screening test recommendations encourage periodic testing. Therefore, patients are continuing their screening. It is necessary for patients to become wise consumers of screening tests and make decisions with their physicians regarding further testing and treatments.

  5. Rapid screening test for porphyria diagnosis using fluorescence spectroscopy

    Science.gov (United States)

    Lang, A.; Stepp, H.; Homann, C.; Hennig, G.; Brittenham, G. M.; Vogeser, M.

    2015-07-01

    Porphyrias are rare genetic metabolic disorders, which result from deficiencies of enzymes in the heme biosynthesis pathway. Depending on the enzyme defect, different types of porphyrins and heme precursors accumulate for the different porphyria diseases in erythrocytes, liver, blood plasma, urine and stool. Patients with acute hepatic porphyrias can suffer from acute neuropathic attacks, which can lead to death when undiagnosed, but show only unspecific clinical symptoms such as abdominal pain. Therefore, in addition to chromatographic methods, a rapid screening test is required to allow for immediate identification and treatment of these patients. In this study, fluorescence spectroscopic measurements were conducted on blood plasma and phantom material, mimicking the composition of blood plasma of porphyria patients. Hydrochloric acid was used to differentiate the occurring porphyrins (uroporphyrin-III and coproporphyrin-III) spectroscopically despite their initially overlapping excitation spectra. Plasma phantom mixtures were measured using dual wavelength excitation and the corresponding concentrations of uroporphyrin-III and coproporphyrin-III were determined. Additionally, three plasma samples of porphyria patients were examined and traces of coproporphyrin-III and uroporphyrin-III were identified. This study may therefore help to establish a rapid screening test method with spectroscopic differentiation of the occurring porphyrins, which consequently allows for the distinction of different porphyrias. This may be a valuable tool for clinical porphyria diagnosis and rapid or immediate treatment.

  6. Global burden of genetic disease and the role of genetic screening.

    Science.gov (United States)

    Verma, I C; Puri, R D

    2015-10-01

    It is estimated that 5.3% of newborns will suffer from a genetic disorder, when followed up until the age of 25 years. In developing, as compared to western countries, hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency have a higher incidence due to severe falciparum malaria in the distant past, and autosomal recessive disorders have a higher frequency due to greater proportion of consanguineous marriages. Chromosomal disorders have a combined frequency of 1 in 153 births, therefore screening for chromosomal disorders is essential, using biochemical markers, ultrasonography, and recently by non-invasive prenatal diagnosis based on cell-free fetal DNA in maternal plasma. Preconceptional counseling should be encouraged. For genetic disorders screening should be carried out, ideally after marriage, but before pregnancy. The disorders to be screened depend upon ethnicity. Metabolic disorders have a high incidence in developing countries due to greater rate of consanguineous marriages. Newborn screening is recommended to reduce the burden of these disorders, as many metabolic disorders can be treated. Hearing and critical congenital heart disease should both be screened in the newborn period.

  7. Molecular Genetics and Genetic Testing in Myotonic Dystrophy Type 1

    Directory of Open Access Journals (Sweden)

    Dušanka Savić Pavićević

    2013-01-01

    Full Text Available Myotonic dystrophy type 1 (DM1 is the most common adult onset muscular dystrophy, presenting as a multisystemic disorder with extremely variable clinical manifestation, from asymptomatic adults to severely affected neonates. A striking anticipation and parental-gender effect upon transmission are distinguishing genetic features in DM1 pedigrees. It is an autosomal dominant hereditary disease associated with an unstable expansion of CTG repeats in the 3′-UTR of the DMPK gene, with the number of repeats ranging from 50 to several thousand. The number of CTG repeats broadly correlates with both the age-at-onset and overall severity of the disease. Expanded DM1 alleles are characterized by a remarkable expansion-biased and gender-specific germline instability, and tissue-specific, expansion-biased, age-dependent, and individual-specific somatic instability. Mutational dynamics in male and female germline account for observed anticipation and parental-gender effect in DM1 pedigrees, while mutational dynamics in somatic tissues contribute toward the tissue-specificity and progressive nature of the disease. Genetic test is routinely used in diagnostic procedure for DM1 for symptomatic, asymptomatic, and prenatal testing, accompanied with appropriate genetic counseling and, as recommended, without predictive information about the disease course. We review molecular genetics of DM1 with focus on those issues important for genetic testing and counseling.

  8. Concurrent Validity of the Battelle Developmental Inventory Screening Test.

    Science.gov (United States)

    McLean, Mary; And Others

    1987-01-01

    The study compared the results of the Battelle Developmental Inventory (BDI) Screening Test with the Denver Developmental Screening Test-Revised and with the full-scale BDI for 30 handicapped and 35 nonhandicapped children, all aged six months to six years. Major differences were found between the tests and populations identified for follow-up.…

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

    Science.gov (United States)

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

  10. Pooled-matrix protein interaction screens using Barcode Fusion Genetics.

    Science.gov (United States)

    Yachie, Nozomu; Petsalaki, Evangelia; Mellor, Joseph C; Weile, Jochen; Jacob, Yves; Verby, Marta; Ozturk, Sedide B; Li, Siyang; Cote, Atina G; Mosca, Roberto; Knapp, Jennifer J; Ko, Minjeong; Yu, Analyn; Gebbia, Marinella; Sahni, Nidhi; Yi, Song; Tyagi, Tanya; Sheykhkarimli, Dayag; Roth, Jonathan F; Wong, Cassandra; Musa, Louai; Snider, Jamie; Liu, Yi-Chun; Yu, Haiyuan; Braun, Pascal; Stagljar, Igor; Hao, Tong; Calderwood, Michael A; Pelletier, Laurence; Aloy, Patrick; Hill, David E; Vidal, Marc; Roth, Frederick P

    2016-04-22

    High-throughput binary protein interaction mapping is continuing to extend our understanding of cellular function and disease mechanisms. However, we remain one or two orders of magnitude away from a complete interaction map for humans and other major model organisms. Completion will require screening at substantially larger scales with many complementary assays, requiring further efficiency gains in proteome-scale interaction mapping. Here, we report Barcode Fusion Genetics-Yeast Two-Hybrid (BFG-Y2H), by which a full matrix of protein pairs can be screened in a single multiplexed strain pool. BFG-Y2H uses Cre recombination to fuse DNA barcodes from distinct plasmids, generating chimeric protein-pair barcodes that can be quantified via next-generation sequencing. We applied BFG-Y2H to four different matrices ranging in scale from ~25 K to 2.5 M protein pairs. The results show that BFG-Y2H increases the efficiency of protein matrix screening, with quality that is on par with state-of-the-art Y2H methods.

  11. How Are Newborn Screening Tests Done?

    Science.gov (United States)

    ... collection. Part of the card consists of special absorbent paper used to collect the blood sample. 1 ... blood is taken through a "heel stick." The absorbent portion of the screening card is then placed ...

  12. Potential Biases Introduced by Conflating Screening and Diagnostic Testing in Colorectal Cancer Screening Surveillance.

    Science.gov (United States)

    Becker, Elizabeth A; Griffith, Derek M; West, Brady T; Janz, Nancy K; Resnicow, Ken; Morris, Arden M

    2015-12-01

    Screening and postsymptomatic diagnostic testing are often conflated in cancer screening surveillance research. We examined the error in estimated colorectal cancer screening prevalence due to the conflation of screening and diagnostic testing. Using data from the 2008 National Health Interview Survey, we compared weighted prevalence estimates of the use of all testing (screening and diagnostic) and screening in at-risk adults and calculated the overestimation of screening prevalence across sociodemographic groups. The population screening prevalence was overestimated by 23.3%, and the level of overestimation varied widely across sociodemographic groups (median, 22.6%; mean, 24.8%). The highest levels of overestimation were in non-Hispanic white females (27.4%), adults ages 50-54 years (32.0%), and those with the highest socioeconomic vulnerability [low educational attainment (31.3%), low poverty ratio (32.5%), no usual source of health care (54.4%), and not insured (51.6%); all P colorectal cancer screening prevalence was overestimated, and patterns of overestimation often aligned with social and economic vulnerability. These results are of concern to researchers who use survey data from the Behavioral Risk Factor Surveillance System (BRFSS) to assess cancer screening behaviors, as it is currently not designed to distinguish diagnostic testing from screening. Surveillance research in cancer screening that does not consider the impetus for testing risks measurement error of screening prevalence, impeding progress toward improving population health. Ultimately, to craft relevant screening benchmarks and interventions, we must look beyond "what" and "when" and include "why." ©2015 American Association for Cancer Research.

  13. Family Secrets: The Bioethics of Genetic Testing

    Science.gov (United States)

    Markowitz, Dina G.; DuPre, Michael J.; Holt, Susan; Chen, Shaw-Ree; Wischnowski, Michael

    2006-01-01

    This article discusses "Family Secrets," a problem-based learning (PBL) curriculum module that focuses on the bioethical implications of genetic testing. In high school biology classrooms throughout New York State, students are using "Family Secrets" to learn about DNA testing; Huntington's disease (HD); and the ethical, legal,…

  14. Genetic Testing in Huntington’s Disease

    OpenAIRE

    J Gordon Millichap

    1997-01-01

    The historical and clinical profiles of Huntington’s disease (HD) presenting in 44 juveniles who were tested for CAG repeat expansions in the gene for HD were defined in a study reported by the US Huntington Disease Genetic Testing Group from the Hennepin County Medical Center, Minneapolis, MN.

  15. Genetic testing and sports medicine ethics.

    Science.gov (United States)

    McNamee, Michael John; Müller, Arno; van Hilvoorde, Ivo; Holm, Søren

    2009-01-01

    Sports medicine ethics is neither a well established branch of sports medicine nor of medical ethics. It is therefore important to raise to more general awareness some of the significant ethical implications of sports medicine practices. The field of genetics in sports is likewise in its infancy and raises significant ethical concerns. It is not yet clear how genetics will alter our understanding of human potential and performance in sports. While a number of professional medical bodies accept genetic interventions of a therapeutic nature, we argue that the use of genetic technologies to predict sports potential may well breach both the European bioethics convention and North American anti-discrimination legislation, which are designed to support important ethical ideals and the ongoing commitment of the physician to the welfare of their patient. We highlight further ethical problems associated with confidentiality and consent that may arise in genetic testing as opposed to more conventional methods of testing in sports medicine. We conclude that genetic testing in sport that is not strictly limited to the protection of the athlete against harm, should be viewed in a very sceptical light by sports medicine professionals.

  16. 42 CFR 410.18 - Diabetes screening tests.

    Science.gov (United States)

    2010-10-01

    ... 42 Public Health 2 2010-10-01 2010-10-01 false Diabetes screening tests. 410.18 Section 410.18... PROGRAM SUPPLEMENTARY MEDICAL INSURANCE (SMI) BENEFITS Medical and Other Health Services § 410.18 Diabetes screening tests. (a) Definitions. For purposes of this section, the following definitions apply:...

  17. Observers' reactions to genetic testing: the role of hindsight bias and judgements of responsibility.

    Science.gov (United States)

    Menec, V H; Weiner, B

    2000-08-01

    In 3 studies, we examined the effect of birth outcome on observers' reactions to genetic testing. Participants read a scenario in which a woman declined to take a genetic screening test and subsequently gave birth to a child with a genetic disorder (negative outcome) or a healthy child (positive outcome). Retrospective judgments of the likelihood that the child would have a genetic disorder were higher given negative than positive outcome knowledge under conditions of high genetic risk. Moreover, the more likely a negative outcome was perceived to be, the more responsible the mother was held for not taking the genetic screening test. Consistent with Weiner's (1993) theory, responsibility judgments were linked to displeasure and sympathy, with sympathy in turn being related to help judgments.

  18. Genome-wide genetic screening with chemically mutagenized haploid embryonic stem cells

    OpenAIRE

    Forment, Josep V.; Herzog, Mareike; Coates, Julia; Konopka, Tomasz; Gapp, Bianca V.; Nijman, Sebastian M.; Adams, David J; Keane, Thomas M.; Jackson, Stephen P.

    2016-01-01

    This is the author accepted manuscript. In model organisms, classical genetic screening via random mutagenesis provides key insights into the molecular bases of genetic interactions, helping to define synthetic lethality, synthetic viability and drug-resistance mechanisms. The limited genetic tractability of diploid mammalian cells, however, precludes this approach. Here, we demonstrate the feasibility of classical genetic screening in mammalian systems by using haploid cells, chemical mut...

  19. Screening Test Items for Differential Item Functioning

    Science.gov (United States)

    Longford, Nicholas T.

    2014-01-01

    A method for medical screening is adapted to differential item functioning (DIF). Its essential elements are explicit declarations of the level of DIF that is acceptable and of the loss function that quantifies the consequences of the two kinds of inappropriate classification of an item. Instead of a single level and a single function, sets of…

  20. [Biochemical screening and genetic diagnosis of thalassemia in children from Kunming].

    Science.gov (United States)

    Wen, Bai-Ping; Fan, Mao; Dai, Hong-Jian; Zhuang, Yu; Liu, Hong-Ling; Yang, Jun-Yi; Yang, Xiao-Hong; Deng, Wen-Guo

    2011-02-01

    To investigate the types and frequency of gene mutations in children with thalassemia in Kunming, Yunan Province. A biochemical screening for thalassemia was performed by testing RBC fragility, MCV and hemoglobin electrophoresis on 1338 children from Kunming, Yunnan Province. Genetic diagnosis was performed on the children with α-thalassemia by gap-PCR and on the children with β-thalassemia by PCR-RDB. The positive rate of the biochemical screening for thalassemia was 11.36% (152 cases). The positive rate of genetic diagnosis was 8.59% (115 cases). Of the 115 cases, α-thalassemia was found in 43 cases, β-thalassemia in 68 cases and α-combined-β thalassemia in 4 cases.--SEA/αα accounted for 47%, -α4.2/αα accounted for 21%, and HbH disease accounted for 14%. Six genotypes were found in 68 cases of β-thalassemia and the mutation frequency of βE was the highest (32%), followed by CD41-42 (24%), CD17 (23%), IVS-II654 (10%), CD71-72 (10%), and -28 (1%). The frequency of gene mutations for thalassemia is high in children from Kunming, Yunnan Province. Premarital and prenatal screenings and genetic diagnosis for thalassemia should be carried out in this area.

  1. Skin Cancer Screening

    Science.gov (United States)

    ... Genetics of Skin Cancer Skin Cancer Screening Research Skin Cancer Screening (PDQ®)–Patient Version What is screening? ... These are called diagnostic tests . General Information About Skin Cancer Key Points Skin cancer is a disease ...

  2. Cervical Cancer Screening with HPV Test

    Centers for Disease Control (CDC) Podcasts

    2009-10-15

    Dr. Stewart Massad, a professor in the Division of Gynecologic Oncology at Washington University in Saint Louis and a board member of the American Society for Colposcopy and Cervical Cancer Prevention (ASCCP), talks about cotesting with human papillomavirus (HPV) as part of a cervical cancer screening program.  Created: 10/15/2009 by National Center for Chronic Disease Prevention and Health Promotion (NCCDPHP), Division of Cancer Prevention and Control (DCPC).   Date Released: 6/9/2010.

  3. Knowledge of prenatal screening and psychological management of test decisions

    DEFF Research Database (Denmark)

    Dahl, Katja; Hvidman, Lone; Jørgensen, Finn Stener

    2010-01-01

    OBJECTIVES: To study associations between pregnant women's knowledge of prenatal screening and decisional conflict in deciding whether to participate in first trimester screening for Down's syndrome in a setting of required informed consent and to study associations between knowledge and personal...... level of knowledge for the pregnant women making choices about participation in prenatal screening for Down's syndrome in order to improve psychological management of test decisions. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd....

  4. Neonatal Screening: Some Ethical Issues of Expanding Spectrum for Genetically Determined Diseases

    Directory of Open Access Journals (Sweden)

    S. S. Deryabina

    2015-01-01

    Full Text Available The article considers philosophical questions of neonatal screening technology. The main focus is on ethical and methodological issues that inevitably arise when expanding the number of scanned nosologies and applying genetic research methods. Questions concerning the existing discrepancy between technical capacity and the practical level of healthcare delivery and the probabilistic nature of results obtained by molecular testing are analyzed in terms of methodology. Access to information about the DNA-testing of newborns and the linkage between neonatal screening and prenatal diagnostics are among the most topical ethical problems raised within this article. One of the purposes of this article is to draw the attention of the public — especially it concerns current and prospective parents and volunteer organizations — to these contemporary problems.

  5. Predictivity, genetic tests and insurance law.

    Science.gov (United States)

    Romeo Casabona, Carlos Maria

    2009-01-01

    An increasing discussion today consists of whether emerging genetic tests will provide a powerful tool for individual risk assessments for the life, health, disability and accident policies underwritten by private insurance companies and what could be the consequences of this for the insurance contract system built throughout the last decades. Thus, access to such risk information will facilitate more precise actuarial premium assessments.

  6. Large genetic screens for gynogenesis and androgenesis haploid inducers in Arabidopsis thaliana failed to identify mutants

    Directory of Open Access Journals (Sweden)

    Virginie ePortemer

    2015-03-01

    Full Text Available Gynogenesis is a process in which the embryo genome originates exclusively from female origin, following embryogenesis stimulation by a male gamete. In contrast, androgenesis is the development of embryos that contain only the male nuclear genetic background. Both phenomena are of great interest in plant breeding as haploidisation is an efficient tool to reduce the length of breeding schemes to create varieties. Although few inducer lines have been described, the genetic control of these phenomena is poorly understood. We developed genetic screens to identify mutations that would induce gynogenesis or androgenesis in Arabidopsis thaliana. The ability of mutant pollen to induce either gynogenesis or androgenesis was tested by crossing mutagenized plants as males. Seedlings from these crosses were screened with recessive phenotypic markers, one genetically controlled by the female genome and another by the male genome. Positive and negative controls confirmed the unambiguous detection of both gynogenesis and androgenesis events. This strategy was applied to 1,666 EMS-mutagenised lines and 47 distant Arabidopsis strains. While an internal control suggested that the mutagenesis reached saturation, no gynogenesis or androgenesis inducer was found. However, spontaneous gynogenesis was observed at a frequency of 1/10,800. Altogether, these results suggest that no simple EMS-induced mutation in the male genome is able to induce gynogenesis or androgenesis in Arabidopsis.

  7. Communication Between Breast Cancer Patients Who Received Inconclusive Genetic Test Results and Their Daughters and Sisters Years After Testing

    NARCIS (Netherlands)

    Baars, Jessica E.; Ausems, Margreet G E M|info:eu-repo/dai/nl/18756969X; van Riel, Els|info:eu-repo/dai/nl/265022495; Kars, Marijke C.|info:eu-repo/dai/nl/28486711X; Bleiker, Eveline M A

    2016-01-01

    Inconclusive genetic test results including screening recommendations for the breast cancer patients and their first-degree relatives are the most common outcomes of BRCA 1/2 testing. Patients themselves should communicate these results to their relatives. Our aim was to explore communication of bre

  8. Pre-screening Discussions and Prostate-Specific Antigen Testing for Prostate Cancer Screening.

    Science.gov (United States)

    Li, Jun; Zhao, Guixiang; Hall, Ingrid J

    2015-08-01

    For many men, the net benefit of prostate cancer screening with prostate-specific antigen (PSA) tests may be small. Many major medical organizations have issued recommendations for prostate cancer screening, stressing the need for shared decision making before ordering a test. The purpose of this study is to better understand associations between discussions about benefits and harms of PSA testing and uptake of the test among men aged ≥40 years. Associations between pre-screening discussions and PSA testing were examined using self-reported data from the 2012 Behavioral Risk Factor Surveillance System. Unadjusted prevalence of PSA testing was estimated and AORs were calculated using logistic regression in 2014. The multivariate analysis showed that men who had ever discussed advantages of PSA testing only or discussed both advantages and disadvantages were more likely, respectively, to report having had a test within the past year than men who had no discussions (pgetting tested than men who had no discussions. Discussions of the benefits or harms of PSA testing are positively associated with increased uptake of the test. Given the conflicting recommendations for prostate cancer screening and increasing importance of shared decision making, this study points to the need for understanding how pre-screening discussions are being conducted in clinical practice and the role played by patients' values and preferences in decisions about PSA testing. Published by Elsevier Inc.

  9. False-positive Human Papillomavirus DNA tests in cervical screening

    DEFF Research Database (Denmark)

    Rebolj, Matejka; Pribac, Igor; Lynge, Elsebeth

    2011-01-01

    Based on data from randomised controlled trials (RCT) on primary cervical screening, it has been reported that the problem of more frequent false-positive tests in Human Papillomavirus (HPV) DNA screening compared to cytology could be overcome. However, these reports predominantly operated...

  10. The validity of the Michigan Alcoholism Screening Test (MAST)

    DEFF Research Database (Denmark)

    Storgaard, H; Nielsen, S D; Gluud, C

    1994-01-01

    This review examines the validity of the Michigan Alcoholism Screening Test (MAST) as a screening instrument for alcohol problems. Studies that compare the MAST-questionnaire with other defined diagnostic criteria of alcohol problems were retrieved through MEDLINE and a cross-bibliographic check...

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

    Science.gov (United States)

    ... MENU Toggle navigation Home Page Search Share: Email Facebook Twitter Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Help Me Understand Genetics Genetic Testing What is direct-to-consumer genetic testing? What is direct-to-consumer genetic ...

  12. Insights into genetic testing for colon cancer: the nurse practitioner role.

    Science.gov (United States)

    Burrer, C V; Bauer, S M

    2000-11-01

    As new genetic discoveries continue to gain public awareness, patients will increasingly call on their nurse practitioners (NPs) to discuss their inherited susceptibility to disease. Genetic testing for colon cancer can presently identify gene mutations for 2 inherited forms of this disease, familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer, accounting for approximately 6% of the cases. By identifying patients at high risk for colon cancer, NPs can discuss the benefits of early detection through screening procedures while helping patients gain insight into the meaning and impact genetic testing can have on their lives. This article discusses the basic genetics involved and screening recommendations for those with a hereditary disposition to colon cancer. Benefits, risks, and limitations are also considered, along with the importance of the NP in educating and supporting individuals in their decision making about genetic testing for colon cancer.

  13. Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)

    NARCIS (Netherlands)

    Claustres, Mireille; Kozich, Viktor; Dequeker, Els; Fowler, Brain; Hehir-Kwa, Jayne Y.; Miller, Konstantin; Oosterwijk, Cor; Peterlin, Borut; van Ravenswaaij-Arts, Conny; Zimmermann, Uwe; Zuffardi, Orsetta; Hastings, Ros J.; Barton, David E.

    Genetic test results can have considerable importance for patients, their parents and more remote family members. Clinical therapy and surveillance, reproductive decisions and genetic diagnostics in family members, including prenatal diagnosis, are based on these results. The genetic test report

  14. Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors.

    Science.gov (United States)

    Bennett, Robin L; Motulsky, Arno G; Bittles, Alan; Hudgins, Louanne; Uhrich, Stefanie; Doyle, Debra Lochner; Silvey, Kerry; Scott, C Ronald; Cheng, Edith; McGillivray, Barbara; Steiner, Robert D; Olson, Debra

    2002-04-01

    The objective of this document is to provide recommendations for genetic counseling and screening for consanguineous couples (related as second cousins or closer) and their offspring with the goals of1. providing preconception reproductive options2. improving pregnancy outcome and identifying reproductive choices3. reducing morbidity and mortality in the 1st years of life, and4. respecting psychosocial and multicultural issues.The recommendations are the opinions of a multicenter working group (the Consanguinity Working Group (CWG)) with expertise in genetic counseling, medical genetics, biochemical genetics, genetic epidemiology, pediatrics, perinatology, and public health genetics, which was convened by the National Society of Genetic Counselors (NSGC). The consensus of the CWG and NSGC reviewers is that beyond a thorough medical family history with follow-up of significant findings, no additional preconception screening is recommended for consanguineous couples. Consanguineous couples should be offered similar genetic screening as suggested for any couple of their ethnic group. During pregnancy, consanguineous couples should be offered maternal-fetal serum marker screening and high-resolution fetal ultrasonography. Newborns should be screened for impaired hearing and detection of treatable inborn errors of metabolism. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.

  15. A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Ingles, Jodie; McGaughran, Julie; Scuffham, Paul A; Atherton, John; Semsarian, Christopher

    2012-04-01

    Traditional management of families with hypertrophic cardiomyopathy (HCM) involves periodic lifetime clinical screening of family members, an approach that does not identify all gene carriers owing to incomplete penetrance and significant clinical heterogeneity. Limitations in availability and cost have meant genetic testing is not part of routine clinical management for many HCM families. To determine the cost-effectiveness of the addition of genetic testing to HCM family management, compared with clinical screening alone. A probabilistic Markov decision model was used to determine cost per quality-adjusted life-year and cost for each life-year gained when genetic testing is included in the management of Australian families with HCM, compared with the conventional approach of periodic clinical screening alone. The incremental cost-effectiveness ratio (ICER) was $A785 (£510 or €587) per quality-adjusted life-year gained, and $A12 720 (£8261 or €9509) per additional life-year gained making genetic testing a very cost-effective strategy. Sensitivity analyses showed that the cost of proband genetic testing was an important variable. As the cost of proband genetic testing decreased, the ICER decreased and was cost saving when the cost fell below $A248 (£161 or €185). In addition, the mutation identification rate was also important in reducing the overall ICER, although even at the upper limits, the ICER still fell well within accepted willingness to pay bounds. The addition of genetic testing to the management of HCM families is cost-effective in comparison with the conventional approach of regular clinical screening. This has important implications for the evaluation of families with HCM, and suggests that all should have access to specialised cardiac genetic clinics that can offer genetic testing.

  16. Efficient Two-Stage Group Testing Algorithms for DNA Screening

    CERN Document Server

    Huber, Michael

    2011-01-01

    Group testing algorithms are very useful tools for DNA library screening. Building on recent work by Levenshtein (2003) and Tonchev (2008), we construct in this paper new infinite classes of combinatorial structures, the existence of which are essential for attaining the minimum number of individual tests at the second stage of a two-stage disjunctive testing algorithm.

  17. BRCA mutation genetic testing implications in the United States.

    Science.gov (United States)

    Bayraktar, Soley; Arun, Banu

    2017-02-01

    BRCA mutation carriers have a very high risk of breast and ovarian cancer by age 70, in the ranges 47%-66% and 40%-57%, respectively. Additionally, women with BRCA mutation-associated breast cancer also have an elevated risk of other or secondary malignancies. Fortunately, the breast and ovarian cancer outcome for BRCA1/2 mutation carriers is at least as good as for non-carriers with chemoprevention, prophylactic surgeries and appropriate use of therapies. Therefore, identification of those who might have a mutation is important so that genetic counseling, testing, screening and prevention strategies can be applied in a timely manner. This article reviews the impact of genetic testing in general, timing of genetic testing after diagnosis and prior knowledge of mutation status in BRCA carriers with newly diagnosed breast cancer. Additionally, risk-reducing surgeries including the prophylactic contralateral mastectomy, and bilateral salpingo-oophorectomy and the sensitivity of BRCA-defective breast cancer cell lines to differential chemotherapeutic agents will be discussed.

  18. Danish retinoblastoma patients 1943-2013 - genetic testing and clinical implications

    DEFF Research Database (Denmark)

    Gregersen, Pernille A; Urbak, Steen F; Funding, Mikkel

    2015-01-01

    of patients diagnosed before DNA testing was offered. Knowledge of heredity increases the chance of early diagnosis in offspring, leading to improved prognosis. We present data from the Danish retinoblastoma patients that emphasize the need for genetic counseling and RB1 screening in all untested......, the rate has been stable around 1 per 14 000 live births with 95% of the patients surviving their retinoblastoma. Stratifying data on the time of diagnosis and status of genetic testing, the number of screened patients gradually increased from 5% in the beginning of the period to 96% in the last five......-year period. A cohort of 181 retinoblastoma survivors with sporadic disease (15% heritable) did not receive genetic testing. Since the introduction of routine testing, one of 14 sporadic unilateral patients tested (7%) has been identified with a germline mutation. Before routine testing, five additional...

  19. SCREENING TESTS FOR IMPROVED METHANE CRACKING MATERIALS

    Energy Technology Data Exchange (ETDEWEB)

    Klein, J; Jeffrey Holder, J

    2007-07-16

    Bench scale (1 to 6 gram) methane cracking tests have been performed on a variety of pure elements, some alloys, and SAES{reg_sign} commercial getters St 101, St 198, St 707, St 737, and St 909 to determine methane cracking performance (MCP) of 5% methane in a helium carrier at 700 C, 101.3 kPa (760 torr) with a 10 sccm feed. The MCP was almost absent from some materials tested while others showed varying degrees of MCP. Re, Cr, V, Gd, and Mo powders had good MCP, but limited capacities. Nickel supported on kieselguhr (Ni/k), a Zr-Ni alloy, and the SAES{reg_sign} getters had good MCP in a helium carrier. The MCP of these same materials was suppressed in a hydrogen carrier stream and the MCP of the Zr-based materials was reduced by nitride formation when tested with a nitrogen carrier gas.

  20. GAPscreener: An automatic tool for screening human genetic association literature in PubMed using the support vector machine technique

    Directory of Open Access Journals (Sweden)

    Khoury Muin J

    2008-04-01

    Full Text Available Abstract Background Synthesis of data from published human genetic association studies is a critical step in the translation of human genome discoveries into health applications. Although genetic association studies account for a substantial proportion of the abstracts in PubMed, identifying them with standard queries is not always accurate or efficient. Further automating the literature-screening process can reduce the burden of a labor-intensive and time-consuming traditional literature search. The Support Vector Machine (SVM, a well-established machine learning technique, has been successful in classifying text, including biomedical literature. The GAPscreener, a free SVM-based software tool, can be used to assist in screening PubMed abstracts for human genetic association studies. Results The data source for this research was the HuGE Navigator, formerly known as the HuGE Pub Lit database. Weighted SVM feature selection based on a keyword list obtained by the two-way z score method demonstrated the best screening performance, achieving 97.5% recall, 98.3% specificity and 31.9% precision in performance testing. Compared with the traditional screening process based on a complex PubMed query, the SVM tool reduced by about 90% the number of abstracts requiring individual review by the database curator. The tool also ascertained 47 articles that were missed by the traditional literature screening process during the 4-week test period. We examined the literature on genetic associations with preterm birth as an example. Compared with the traditional, manual process, the GAPscreener both reduced effort and improved accuracy. Conclusion GAPscreener is the first free SVM-based application available for screening the human genetic association literature in PubMed with high recall and specificity. The user-friendly graphical user interface makes this a practical, stand-alone application. The software can be downloaded at no charge.

  1. Genes and genetic testing in hereditary ataxias.

    Science.gov (United States)

    Sandford, Erin; Burmeister, Margit

    2014-07-22

    Ataxia is a neurological cerebellar disorder characterized by loss of coordination during muscle movements affecting walking, vision, and speech. Genetic ataxias are very heterogeneous, with causative variants reported in over 50 genes, which can be inherited in classical dominant, recessive, X-linked, or mitochondrial fashion. A common mechanism of dominant ataxias is repeat expansions, where increasing lengths of repeated DNA sequences result in non-functional proteins that accumulate in the body causing disease. Greater understanding of all ataxia genes has helped identify several different pathways, such as DNA repair, ubiquitination, and ion transport, which can be used to help further identify new genes and potential treatments. Testing for the most common mutations in these genes is now clinically routine to help with prognosis and treatment decisions, but next generation sequencing will revolutionize how genetic testing will be done. Despite the large number of known ataxia causing genes, however, many individuals with ataxia are unable to obtain a genetic diagnosis, suggesting that more genes need to be discovered. Utilization of next generation sequencing technologies, expression studies, and increased knowledge of ataxia pathways will aid in the identification of new ataxia genes.

  2. Screening tests for new teat dips.

    Science.gov (United States)

    Farnsworth, R J; Johnson, D W; Dewey, L

    1976-11-01

    Increased use of after-milking teat dips has resulted in the appearance of many new teat dips and a need for methods of evaluation of efficacy. A method was developed for determining the ability of a disinfectant to kill bacteria on the teat ends. Results from several known efficacious products indicated an approximate 95% reduction in bacterial flora. Additional data are presented on some experimental products. This method will provide a measure of effectiveness of a producton teat-skin disinfection. The effect of some changes in the testing procedure on bacterial reduction is demonstrated: 1) Increased times between inoculation and dipping and between dipping and swabbing tended to decrease recoveries on control teats. 2) Saline dips on controls teats provided increased recoveries of test organisms.

  3. [Comparison of eight screening tests for ant-HCV antibody].

    Science.gov (United States)

    Deguchi, Matsuo; Kagita, Masanori; Yamashita, Naoko; Nakano, Takasi; Tahara, Kazuko; Asari, Seishi; Iwatani, Yoshinori

    2002-09-01

    We compared eight HCV screening tests for detection of anti-HCV antibody; Ortho Quick Chaser HCV Ab (QC), Ortho HCV Ab ELISA III (ELISA), Ortho HVC Ab PA test III (PA), Lumipulse II Ortho HCV (LUMI), IMx HCV.DAINAPACKII (IMx), ARCHITECT HCV (ARCH), Immucheck.F-HCV C50 Ab (Immu), RANREAM HCV Ab Ex II (RAN). Sera from six hundred patients were examined by these eight screening tests. The positive rates of the eight screening tests were from 9.0% to 13.2%. Forty-five sera showed discrepant results between the eight screening tests, and about half of them showed weak positive reaction and/or false positive. Twenty-five of the forty-five sera were negative for ant-HCV antibody in the CHIRON RIBA III confirmatory test, and forty-four of them were negative for HCV-RNA in the PCR method. The agreement rates between the two reagents were from 95.5% to 99.2%, but were not always high between the two reagents that used similar antigen. The specificities and sensitivities evaluated by using the RIBA III confirmatory test were excellent in ELISA, LUMI, IMx, ARCH and Immu. Three BBI seroconversion panels were used to compare the positive readings in the initial stage of HCV infection by eight screening tests. ELISA and ARCH showed the earliest positive readings, and then IMx, LUMI = RAN, PA, QC and Immu in this order. These findings indicate that ELISA and ARCH were the most excellent in the sensitivity, specificity and early diagnosis of HCV infection. However, we must pay attention to the weak positive reaction in the screening tests, because there is a possibility of "false positive".

  4. Double Screening Tests of the CMS ECAL Avalanche Photodiodes

    CERN Document Server

    Deiters, Konrad; Renker, Dieter; Sakhelashvili, Tariel; Britvitch, Ilia; Kuznetsov, Andrey; Musienko, Yuri; Singovsky, Alexander

    2005-01-01

    Specially developed avalanche photo-diodes (APDs) will be used to measure the light from the 61,200 lead tungstate crystals in the barrel part of the CMS electromagnetic calorimeter. To ensure the reliability over the lifetime of the detector, every APD is screened by irradiation and burn-in before it is accepted for CMS. As part of the establishment of the screening procedure and to determine its effectiveness, a large number of APDs were screened twice. The results of these tests suggest that the required reliability will be achieved.

  5. Preliminary Study on Thalassemia Screening and Genetic Counseling in Selective Hmong People in Saraburi Province, Thailand

    Directory of Open Access Journals (Sweden)

    Pa Vang

    2008-01-01

    Full Text Available it can lead to the destruction of red blood cells. Studies have shown that there is a high prevalence of thalassemia in Southeast Asia. The Institute of Health Research, Chulalongkorn University developed a successful “Module” to screen for thalassemia in the Thai population, however, it has not been implemented in the minority population in Thailand. In this study, we investigated the feasibility of the newly developed educational and thalassemia screening program with the Hmong population. The primary aim of this study was to test this program. The secondary aim was to determine the prevalence of thalassemia in the Hmong and provide education. A third aim was to determine the reliability of two different screening methods in the Hmong population. A pre-test and post-test design was used; participants (N=12 were individuals residing in Thailand with the ability to read English and between the ages 18-50. The participants met twice with the researchers to complete the program. The first contact consisted of assessing participants’ knowledge about thalassemia, providing thalassemia information and education about genetic counseling, and drawing blood samples. The second contact consisted of assessing knowledge, providing a written report of individual blood sample results and counseling. The initial interview revealed that the majority of the participants (82% did not know anything about thalassemia prior to participation. The program was easy to understand by most participants (90%. Of the eleven Hmong participants, two tested positive for being a possible carrier for thalassemia. In order to reduce the prevalence of thalassemia, it is necessary to engage in risk reduction health services. The modified screening method proved to be as effective as the standard method. Therefore, the program can expand and be used in other regional populations with low cost.

  6. Genetic research and testing in sport and exercise science: a review of the issues.

    Science.gov (United States)

    Wackerhage, Henning; Miah, Andy; Harris, Roger C; Montgomery, Hugh E; Williams, Alun G

    2009-09-01

    This review is based on the BASES position stand on "Genetic Research and Testing in Sport and Exercise Science". Our aims are first to introduce the reader to research in sport and exercise genetics and then to highlight ethical problems arising from such research and its applications. Sport and exercise genetics research in the form of transgenic animal and human association studies has contributed significantly to our understanding of exercise physiology and there is potential for major new discoveries. Researchers starting out in this field will have to ensure an appropriate study design to avoid, for example, statistically underpowered studies. Ethical concerns arise more from the applications of genetic research than from the research itself, which is assessed by ethical committees. Possible applications of genetic research are genetic performance tests or genetic tests to screen, for example, for increased risk of sudden death during sport. The concerns are that genetic performance testing could be performed on embryos and could be used to select embryos for transplantation or abortion. Screening for risk of sudden death may reduce deaths during sporting events but those that receive a positive diagnosis may suffer severe psychological consequences. Equally, it will be almost impossible to keep a positive diagnosis confidential if the individual tested is an elite athlete.

  7. Incidental findings, genetic screening and the challenge of personalisation

    Directory of Open Access Journals (Sweden)

    Carlo Petrini

    2014-12-01

    Full Text Available Genetic tests frequently produce more information than is initially expected. Several documents have addressed this issue and offer suggestions regarding how this information should be managed and, in particular, concerning the expedience of revealing (or not revealing it to the persons concerned. While the approaches to the management of these incidental findings (IFs vary, it is usually recommended that the information be disclosed if there is confirmed clinical utility and the possibility of treatment or prevention. However, this leaves unsolved some fundamental issues such as the different ways of interpreting "clinical utility", countless sources of uncertainty and varying ways of defining the notion of "incidental". Guidelines and other reference documents can offer indications to those responsible for managing IFs but should not be allowed to relieve researchers and healthcare professionals of their responsibilities.

  8. A Mini-Nitrification Test for Toxicity Screening, Minntox

    DEFF Research Database (Denmark)

    Arvin, Erik; Dyreborg, Søren; Menck, C.

    1994-01-01

    There is a high demand for a rapid, simple, and inexpensive test for screening of the toxicity of wastewater, polluted groundwater and chemicals in order to protect sewage treatment plants and aquatic and terrestrial recipients. The mini-nitrification test, MINNTOX, presented here, fulfils...

  9. An Adolescent Version of the Michigan Alcoholism Screening Test.

    Science.gov (United States)

    Snow, Mark; Thurber, Steven; Hodgson, Joele M.

    2002-01-01

    Item content of the Michigan Alcoholism Screening Test (MAST) was modified to make it more appropriate for young persons. The resulting test was found to have lower internal consistency than the adult MAST, but the elimination of five items with comparatively poor psychometric properties yielded an acceptable alpha coefficient. (Contains 10…

  10. HPV DNA testing in population-based cervical screening (VUSA-Screen study) : results and implications

    NARCIS (Netherlands)

    Rijkaart, D. C.; Berkhof, J.; van Kemenade, F. J.; Coupe, V. M. H.; Rozendaal, L.; Heideman, D. A. M.; Verheijen, R. H. M.; Bulk, S.; Verweij, W.; Snijders, P. J. F.; Meijer, C. J. L. M.

    2012-01-01

    BACKGROUND: Human papillomavirus (HPV) testing is more sensitive than cytology for detecting high-grade cervical intraepithelial neoplasia (CIN). We evaluated the performance of high-risk HPV (hrHPV) testing in routine screening. METHODS: In all, 25 871 women (29-61) enrolled in our population-based

  11. The Efficiency of the Revised Denver Developmental Screening Test as a Language Screening Tool.

    Science.gov (United States)

    Feeney, Jennifer; Bernthal, John

    1996-01-01

    The validity of using the Revised Denver Developmental Screening Test (RDDST) was investigated by testing 199 preschool children (ages 3-4) and reviewing the results 6 months later. Results indicated that the RDDST was an efficient prognostic tool in predicting formal assessment results for children at risk for language impairments. (CR)

  12. HPV DNA testing in population-based cervical screening (VUSA-Screen study) : results and implications

    NARCIS (Netherlands)

    Rijkaart, D. C.; Berkhof, J.; van Kemenade, F. J.; Coupe, V. M. H.; Rozendaal, L.; Heideman, D. A. M.; Verheijen, R. H. M.; Bulk, S.; Verweij, W.; Snijders, P. J. F.; Meijer, C. J. L. M.

    2012-01-01

    BACKGROUND: Human papillomavirus (HPV) testing is more sensitive than cytology for detecting high-grade cervical intraepithelial neoplasia (CIN). We evaluated the performance of high-risk HPV (hrHPV) testing in routine screening. METHODS: In all, 25 871 women (29-61) enrolled in our population-based

  13. Screening for ovarian cancer in women with varying levels of risk, using annual tests, results in high recall for repeat screening tests

    Directory of Open Access Journals (Sweden)

    Nobbenhuis Marielle AE

    2011-11-01

    Full Text Available Abstract Background We assessed ovarian cancer screening outcomes in women with a positive family history of ovarian cancer divided into a low-, moderate- or high-risk group for development of ovarian cancer. Methods 545 women with a positive family history of ovarian cancer referred to the Ovarian Screening Service at the Royal Marsden Hospital, London from January 2000- December 2008 were included. They were stratified into three risk-groups according to family history (high-, moderate- and low-risk of developing ovarian cancer and offered annual serum CA 125 and transvaginal ultrasound screening. The high-risk group was offered genetic testing. Results The median age at entry was 44 years. The number of women in the high, moderate and low-risk groups was 397, 112, and 36, respectively. During 2266 women years of follow-up two ovarian cancer cases were found: one advanced stage at her fourth annual screening, and one early stage at prophylactic bilateral salpingo-oophorectomy (BSO. Prophylactic BSO was performed in 138 women (25.3%. Forty-three women had an abnormal CA125, resulting in 59 repeat tests. The re-call rate in the high, moderate and low-risk group was 14%, 3% and 6%. Equivocal transvaginal ultrasound results required 108 recalls in 71 women. The re-call rate in the high, moderate, and low-risk group was 25%, 6% and 17%. Conclusion No early stage ovarian cancer was picked up at annual screening and a significant number of re-calls for repeat screening tests was identified.

  14. Genetic Testing for Breast Cancer: Psychological and Social Impact

    Science.gov (United States)

    Genetic testing for breast cancer: Psychological and social impact Genetic testing to estimate breast and ovarian cancer risk may prompt many emotional and psychological reactions. How will getting the news that you' ...

  15. Angelina Jolie's Mastectomies Tied to Rise in Genetic Testing

    Science.gov (United States)

    ... html Angelina Jolie's Mastectomies Tied to Rise in Genetic Testing But, researchers did not find a corresponding increase ... Human Services. More Health News on: Breast Cancer Genetic Testing Mastectomy Recent Health News Related MedlinePlus Health Topics ...

  16. Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape.

    Science.gov (United States)

    Holtkamp, Kim C A; Vos, Evelien M; Rigter, Tessel; Lakeman, Phillis; Henneman, Lidewij; Cornel, Martina C

    2017-02-16

    In most countries, genetic carrier screening is neither offered, nor embedded in mainstream healthcare. Technological developments have triggered a two-fold transition in carrier screening: the expansion from screening one single disorder to many disorders simultaneously, and offering screening universally, regardless of ancestry. This study aims to identify general and population-specific barriers and needs reflected by stakeholders regarding the implementation of carrier screening in a changing landscape. Seventeen semi-structured interviews were conducted with Dutch key stakeholders working in the practical and scientific field of carrier screening. The constellation approach was used to categorise barriers and needs into three levels: culture, structure and practice. Barriers on a cultural level include: undecidedness about the desirability of carrier screening, and a lack of priority of screening in mainstream healthcare. On a structural level barriers included: need for organisational structures in healthcare for embedding carrier screening, need for guidelines, financial structures, practical tools for overcoming challenges during counselling, and a need for training and education of both professionals and the public. A lack of demand for screening by the public, and a need for a division of responsibilities were barriers on a practical level. The absence of a collective sense of urgency for genetic carrier screening, a lack of organisational structures, and uncertainty or even disagreement about the responsibilities seem to be important barriers in the implementation of carrier screening. Stakeholders therefore suggest that change agents should be formally acknowledged to strategically plan broadening of current initiatives and attune different stakeholders.

  17. Economic evaluation of prostate cancer screening test as a national cancer screening program in South Korea.

    Science.gov (United States)

    Shin, Sangjin; Kim, Youn Hee; Hwang, Jin Sub; Lee, Yoon Jae; Lee, Sang Moo; Ahn, Jeonghoon

    2014-01-01

    Prostate cancer is rapidly increasing in Korea and professional societies have requested adding prostate specific antigen (PSA) testing to the National Cancer Screening Program (NCSP), but this started a controversy in Korea and neutral evidence on this issue is required more than ever. The purpose of this study was to provide economic evidence to the decision makers of the NCSP. A cost-utility analysis was performed on the adoption of PSA screening program among men aged 50-74-years in Korea from the healthcare system perspective. Several data sources were used for the cost-utility analysis, including general health screening data, the Korea Central Cancer Registry, national insurance claims data, and cause of mortality from the National Statistical Office. To solicit the utility index of prostate cancer, a face-to-face interview for typical men aged 40 to 69 was conducted using a Time-Trade Off method. As a result, the increase of effectiveness was estimated to be very low, when adopting PSA screening, and the incremental cost effectiveness ratio (ICER) was analyzed as about 94 million KRW. Sensitivity analyses were performed on the incidence rate, screening rate, cancer stage distribution, utility index, and treatment costs but the results were consistent with the base analysis. Under Korean circumstances with a relatively low incidence rate of prostate cancer, PSA screening is not cost-effective. Therefore, we conclude that adopting national prostate cancer screening would not be beneficial until further evidence is provided in the future.

  18. Secretary's advisory committee on genetic testing: its emerging role in public policy deliberation on genetic tests.

    Science.gov (United States)

    Carr, S; Goodwin, S M

    1999-01-01

    The Secretary's Advisory Committee on Genetic Testing (SACGT) was established by the U.S. Secretary of Health and Human Services, Donna E. Shalala, to provide a public forum for the formulation of policy advice in the complex and growing area of genetic testing. After a careful nomination and selection process, the Secretary announced the appointment of thirteen advisors to the SACGT in June 1999. The first meeting of the SACGT was held June 30, 1999. This article describes the purpose, formation, and function of the SACGT. Before addressing these questions about the role of the SACGT, we first will explain what genetic testing is, how it is currently used, and what new uses it may be put to in the future.

  19. Are overreferrals on developmental screening tests really a problem?

    Science.gov (United States)

    Glascoe, F P

    2001-01-01

    Developmental screening tests, even those meeting standards for screening test accuracy, produce numerous false-positive results for 15% to 30% of children. This is thought to produce unnecessary referrals for diagnostic testing or special services and increase the cost of screening programs. To explore whether children who pass screening tests differ in important ways from those who do not and to determine whether children overreferred for testing benefit from the scrutiny of diagnostic testing and treatment planning. Subjects were a national sample of 512 parents and their children (age range of the children, 7 months to 8 years) who participated in validation studies of various screening tests. Psychological examiners adhering to standardized directions obtained informed consent and administered at least 2 developmental screening measures (the Brigance Screens, the Battelle Developmental Inventory Screening Test, the Denver-II, and the Parents' Evaluations of Developmental Status) and a concurrent battery of diagnostic measures, including tests of intelligence, language, and academic achievement (for children aged 2(1/2) years and older). The performance on diagnostic measures of children who failed screening but were not found to have a disability (false positives) was compared with that of children who passed screening and did not have a disability on diagnostic testing (true negatives). Children with false-positive scores performed significantly (Ptests (95% CI, 3.28-13.50), and 4.9 on academic measures (95% CI, 2.61-9.28). Overall, 151 (70%) of the children with false-positive results scored below the 25th percentile on 1 or more diagnostic measures (the point at which most children have difficulty benefiting from typical classroom instruction) in contrast with 64 (29%) of the children with true-negative scores (odds ratio, 5.6; 95% CI, 3.73-8.49). Children with false-positive scores were also more likely to be nonwhite and to have parents who had not

  20. 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)

  1. Parents' Attitudes toward Genetic Testing of Children for Health Conditions: A Systematic Review.

    Science.gov (United States)

    Lim, Qishan; McGill, Brittany C; Quinn, Veronica F; Tucker, Katherine M; Mizrahi, David; Farkas Patenaude, Andrea; Warby, Meera; Cohn, Richard J; Wakefield, Claire E

    2017-02-07

    This review assessed parents' attitudes toward childhood genetic testing for health conditions, with a focus on perceived advantages and disadvantages. We also evaluated the factors that influence parents' attitudes toward childhood genetic testing. We searched Medline, Medline In-Process, EMBASE, PsycINFO, Social Work Abstracts and CINAHL. We screened 945 abstracts and identified 21 studies representing the views of 3934 parents. Parents reported largely positive attitudes toward childhood genetic testing across different genetic tests with varying medical utility. Parents perceived a range of advantages and disadvantages of childhood genetic testing. Childhood genetic testing was viewed by most as beneficial. Parents' education level, genetic status, sex and socio-demographic status were associated with reported attitudes. This yielded some conflicting findings, indicating the need for further research. Genetic counseling remains essential to support this population in making well-informed decisions. Targeted interventions tailored to specific families with different socio-demographic characteristics may be useful. Further research on the long-term impact of childhood genetic testing on families is warranted.

  2. Genetic synthetic lethality screen at the single gene level in cultured human cells

    OpenAIRE

    Simons, Arnold H.; Dafni, Naomi; Dotan, Iris; Oron, Yoram; Canaani, Dan

    2001-01-01

    Recently, we demonstrated the feasibility of a chemical synthetic lethality screen in cultured human cells. We now demonstrate the principles for a genetic synthetic lethality screen. The technology employs both an immortalized human cell line deficient in the gene of interest, which is complemented by an episomal survival plasmid expressing the wild-type cDNA for the gene of interest, and the use of a novel GFP-based double-label fluorescence system. Dominant negative genetic suppressor elem...

  3. Human papillomavirus testing and genotyping in cervical screening

    DEFF Research Database (Denmark)

    Rebolj, Matejka; Lynge, Elsebeth; Bonde, Jesper

    2011-01-01

    the incidence of cervical cancer, but has a low sensitivity for high-grade cervical intraepithelial neoplasia (CIN) and requires frequent testing. Several HPV tests have become available commercially. They appear to be more sensitive for high-grade CIN, and may further reduce the incidence of cervical cancer......Mass vaccination against human papillomavirus (HPV) genotypes 16 and 18 will, in the long term, reduce the incidence of cervical cancer, but screening will remain an important cancer control measure in both vaccinated and unvaccinated women. Since the 1960s, cytology screening has helped to reduce...

  4. Test Plan for Tank 241-AZ-101 Solubility Screening Tests

    Energy Technology Data Exchange (ETDEWEB)

    PERSON, J.C.

    1999-12-03

    Tank 241-AZ-101 (101-AZ) has been identified as one of the early tanks to be retrieved for waste pretreatment and immobilization. Retrieval of the tank waste from other tanks may require dilution. This test is to determine the effects of dilution on the mass of solids and their composition, which can be compared with tanks where dilution is required. This test plan gives test instructions, example data sheets, a waste compatibility review, and a waste stream fact sheet.

  5. Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis.

    Science.gov (United States)

    Chandrasekharan, Subhashini; Heaney, Christopher; James, Tamara; Conover, Chris; Cook-Deegan, Robert

    2010-04-01

    Cystic fibrosis is one of the most commonly tested autosomal recessive disorders in the United States. Clinical cystic fibrosis is associated with mutations in the CFTR gene, of which the most common mutation among Caucasians, DeltaF508, was identified in 1989. The University of Michigan, Johns Hopkins University, and the Hospital for Sick Children, where much of the initial research occurred, hold key patents on cystic fibrosis genetic sequences, mutations, and methods for detecting them. Several patents, including the one that covers detection of the DeltaF508 mutation, are jointly held by the University of Michigan and the Hospital for Sick Children in Toronto, with Michigan administering patent licensing in the United States. The University of Michigan broadly licenses the DeltaF508 patent for genetic testing with >60 providers of genetic testing to date. Genetic testing is now used in newborn screening, diagnosis, and for carrier screening. Interviews with key researchers and intellectual property managers, a survey of laboratories' prices for cystic fibrosis genetic testing, a review of literature on cystic fibrosis tests' cost-effectiveness, and a review of the developing market for cystic fibrosis testing provide no evidence that patents have significantly hindered access to genetic tests for cystic fibrosis or prevented financially cost-effective screening. Current licensing practices for cystic fibrosis genetic testing seem to facilitate both academic research and commercial testing. More than 1000 different CFTR mutations have been identified, and research continues to determine their clinical significance. Patents have been nonexclusively licensed for diagnostic use and have been variably licensed for gene transfer and other therapeutic applications. The Cystic Fibrosis Foundation has been engaged in licensing decisions, making cystic fibrosis a model of collaborative and cooperative patenting and licensing practice.

  6. Systematic genetic screening in a prospective group of Danish patients with pheochromocytoma

    DEFF Research Database (Denmark)

    Hansen, Morten Steen Svarer; Jacobsen, Niels; Frederiksen, Anja Lisbeth

    2017-01-01

    Recent guidelines recommend consideration of genetic screening in all newly diagnosed patients with pheochromocytoma. Patients diagnosed with pheochromocytoma in the Region of Southern Denmark during 2006-2013 without previously recognized monogenetic etiology were offered genetic screening...... for mutations in the VHL, RET, SDHB, SDHC, and SDHD genes. A total of 41 patients were included, and genetic data were available in 35. In four of the 35 patients, a pathogenic variant was identified prior to the diagnosis of pheochromocytoma (von Hippel-Lindau disease, n=2; neurofibromatosis type 1, n=2......). The patients carrying a genetic mutation were all younger than 45 years at time of diagnosis of pheochromocytoma, two patients presented with bilateral tumors, and one patient had a positive family history of pheochromocytoma. Genetic screening of the remaining 31 patients did not identify any mutations...

  7. Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening.

    Science.gov (United States)

    Maiorana, Arianna; Barbetti, Fabrizio; Boiani, Arianna; Rufini, Vittoria; Pizzoferro, Milena; Francalanci, Paola; Faletra, Flavio; Nichols, Colin G; Grimaldi, Chiara; de Ville de Goyet, Jean; Rahier, Jacques; Henquin, Jean-Claude; Dionisi-Vici, Carlo

    2014-11-01

    Congenital hyperinsulinism (CHI) requires rapid diagnosis and treatment to avoid irreversible neurological sequelae due to hypoglycaemia. Aetiological diagnosis is instrumental in directing the appropriate therapy. Current diagnostic algorithms provide a complete set of diagnostic tools including (i) biochemical assays, (ii) genetic facility and (iii) state-of-the-art imaging. They consider the response to a therapeutic diazoxide trial an early, crucial step before proceeding (or not) to specific genetic testing and eventually imaging, aimed at distinguishing diffuse vs focal CHI. However, interpretation of the diazoxide test is not trivial and can vary between research groups, which may lead to inappropriate decisions. Objective of this report is proposing a new algorithm in which early genetic screening, rather than diazoxide trial, dictates subsequent clinical decisions. Two CHI patients weaned from parenteral glucose infusion and glucagon after starting diazoxide. No hypoglycaemia was registered during a 72-h continuous glucose monitoring (CGMS), or hypoglycaemic episodes were present for no longer than 3% of 72-h. Normoglycaemia was obtained by low-medium dose diazoxide combined with frequent carbohydrate feeds for several years. We identified monoallelic, paternally inherited mutations in KATP channel genes, and (18) F-DOPA PET-CT revealed a focal lesion that was surgically resected, resulting in complete remission of hypoglycaemia. Although rare, some patients with focal lesions may be responsive to diazoxide. As a consequence, we propose an algorithm that is not based on a 'formal' diazoxide response but on genetic testing, in which patients carrying paternally inherited ABCC8 or KCNJ11 mutations should always be subjected to (18) F-DOPA PET-CT. © 2014 John Wiley & Sons Ltd.

  8. [The usefulness of fecal tests in colorectal cancer screening].

    Science.gov (United States)

    Castells, Antoni

    2014-09-01

    Colorectal cancer is a paradigm of neoplasms that are amenable to preventative measures, especially screening. Currently, to carry this out, there are various strategies that have proven effective and efficient. In countries that have organized population-level screening programs, the most common strategy is fecal occult blood testing. In recent years, new methods have appeared that could constitute viable alternatives in the near future, among which the detection of changes in fecal DNA is emphasized. In this article, we review the most relevant papers on colorectal cancer screening presented at the annual meeting of the American Gastroenterological Association held in Chicago in May 2014, with special emphasis on the medium and long-term performance of strategies to detect occult blood in feces and the first results obtained with fecal DNA testing.

  9. Cost-Effectiveness Analysis of Different Genetic Testing Strategies for Lynch Syndrome in Taiwan.

    Science.gov (United States)

    Chen, Ying-Erh; Kao, Sung-Shuo; Chung, Ren-Hua

    2016-01-01

    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 strategies for LS in

  10. Exome sequencing and genetic testing for MODY.

    Directory of Open Access Journals (Sweden)

    Stefan Johansson

    Full Text Available CONTEXT: 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. OBJECTIVE: 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. RESEARCH DESIGN AND METHODS: 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. RESULTS: 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. CONCLUSION: 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.

  11. Role of Genetic Testing in Patients with Ventricular Arrhythmias in Apparently Normal Hearts.

    Science.gov (United States)

    Hofman, Nynke; Wilde, Arthur A M

    2016-09-01

    Ventricular arrhythmias without structural heart disease are responsible for ∼35% of patients who have sudden cardiac death before the age of 40 years. Molecular autopsy and/or cardiological investigation of nearby family members often reveals the diagnosis and genetic testing can be helpful in family screening and risk stratification in disease carriers. Extended gene panels can be screened in a short period of time at low cost. A multidisciplinary team of (genetically) specialized clinicians is necessary to judge all the available details and to decide on the significance of the variant and further strategies.

  12. 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

  13. 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 c

  14. 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 c

  15. Denver Developmental Screening Test: Cultural Variations in Southeast Asian Children.

    Science.gov (United States)

    Miller, Virginia; And Others

    1984-01-01

    The Denver Developmental Screening Tests (DDST) was administered to 25 Southeast Asian children (one to five years old) and scores of 150 other DDSTs performed on Southeast Asian children were reviewed. Findings suggested that scores may reflect differences in social and cultural experiences between these children and the standardization sample.…

  16. Psychometric Characteristics of the Gesell School Readiness Screening Test.

    Science.gov (United States)

    Lichtenstein, Robert

    The Gesell School Readiness Screening Test (GSRST) is widely used to identify "developmentally immature" children for placement in extra-year, transition programs in spite of a problematic absence of psychometric evidence and research support. In this study of psychometric characteristics of the GSRST, teacher ratings of classroom performance and…

  17. Tuberculosis Screening and Targeted Testing of College and University Students

    Science.gov (United States)

    Journal of American College Health, 2011

    2011-01-01

    Screening and targeted testing for tuberculosis (TB) is a key strategy for controlling and preventing infection on college and university campuses. Early detection provides an opportunity to promote the health of affected individuals through prompt diagnosis and treatment while preventing potential spread to others. Implementation of a screening…

  18. The usefulness of the Battelle Developmental Inventory Screening Test.

    Science.gov (United States)

    Glascoe, F P; Byrne, K E

    1993-05-01

    Recent research supporting the effectiveness of early intervention and laws expanding services have increased the demand for accurate developmental screening tests. The Battelle Developmental Inventory Screening Test (BDIST), for children 6 months to 8 years old, has a number of desirable features, including subtests for fine and gross motor, adaptive, personal-social, receptive and expressive language, and cognitive skills; a range cutoff and age-equivalent scores; and national standardization. To assess its accuracy, the BDIST was administered to 104 children 7 to 83 months old, along with several other screening tests and a battery of criterion measures. Tied to 1.5 standard deviations below the mean, BDIST failing scores were moderately sensitive, detecting 75% of the children with developmental problems, such as mental retardation, borderline intelligence, language delays, and learning disabilities. Since 73% of the nonhandicapped children passed the BDIST, the test showed moderate specificity. Children within one month of their birthdays were likely to be over- or underreferred. Although the BDIST needs further research, it is a promising developmental screening instrument. The Receptive Language (RL) subtest, slightly more sensitive than the total BDIST but less specific, takes only a few minutes and thus is useful for prescreening in time-limited settings, such as pediatric practice.

  19. Tuberculosis Screening and Targeted Testing of College and University Students

    Science.gov (United States)

    Journal of American College Health, 2011

    2011-01-01

    Screening and targeted testing for tuberculosis (TB) is a key strategy for controlling and preventing infection on college and university campuses. Early detection provides an opportunity to promote the health of affected individuals through prompt diagnosis and treatment while preventing potential spread to others. Implementation of a screening…

  20. Paragangliomas/Pheochromocytomas: Clinically Oriented Genetic Testing

    Directory of Open Access Journals (Sweden)

    Rute Martins

    2014-01-01

    Full Text Available Paragangliomas are rare neuroendocrine tumors that arise in the sympathetic or parasympathetic nervous system. Sympathetic paragangliomas are mainly found in the adrenal medulla (designated pheochromocytomas but may also have a thoracic, abdominal, or pelvic localization. Parasympathetic paragangliomas are generally located at the head or neck. Knowledge concerning the familial forms of paragangliomas has greatly improved in recent years. Additionally to the genes involved in the classical syndromic forms: VHL gene (von Hippel-Lindau, RET gene (Multiple Endocrine Neoplasia type 2, and NF1 gene (Neurofibromatosis type 1, 10 novel genes have so far been implicated in the occurrence of paragangliomas/pheochromocytomas: SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX, EGLN1, HIF2A, and KIF1B. It is currently accepted that about 35% of the paragangliomas cases are due to germline mutations in one of these genes. Furthermore, somatic mutations of RET, VHL, NF1, MAX, HIF2A, and H-RAS can also be detected. The identification of the mutation responsible for the paraganglioma/pheochromocytoma phenotype in a patient may be crucial in determining the treatment and allowing specific follow-up guidelines, ultimately leading to a better prognosis. Herein, we summarize the most relevant aspects regarding the genetics and clinical aspects of the syndromic and nonsyndromic forms of pheochromocytoma/paraganglioma aiming to provide an algorithm for genetic testing.

  1. [Electronic eikonometer: Measurement tests displayed on stereoscopic screen].

    Science.gov (United States)

    Bourdy, C; James, Y

    2016-05-01

    We propose the presentation on a stereoscopic screen of the electronic eikonometer tests intended for analysis and measurement of perceptual effects of binocular disparity. These tests, so-called "built-in magnification tests" are constructed according to the same principle as those of preceding eikonometers (disparity variation parameters being included in each test presentation, which allows, for test observation and measurements during the examination, the removing of any intermediate optical system). The images of these tests are presented separately to each eye, according to active or passive stereoscopic screen technology: (1) Ogle Spatial Test to measure aniseikonia; (2) Fixation Disparity test: binocular nonius; (3) retinal correspondence test evaluated by nonius horopter; (4) stereoscopic test using Julesz' random-dot stereograms (RDS). All of these tests, with their variable parameters included, are preprogrammed by means of an associated mini-computer. This new system (a single screen for the presentation of tests for the right eye and left eye) will be much simpler to reproduce and install for all practitioners interested in the functional exploration of binocular vision. We develop the suitable methodology adapted to each type of examination, as well as manipulations to be performed by the operator. We then recall the possibilities for reducing aniseikonia thanks to some theoretical studies previously performed by matrix calculation of the size of the retinal images for different types of eye (emmetropia, axial or conformation anisometropia, aphakia) and for different means of correction (glasses, contact lenses, implants). Software for achieving these different tests is available, on request, at this address: eiconometre.electronique@gmail.com. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  2. [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.

  3. Coeliac disease and autoimmune disease-genetic overlap and screening

    NARCIS (Netherlands)

    Lundin, Knut E. A.; Wijmenga, Cisca

    Coeliac disease is a treatable, gluten-induced disease that often occurs concurrently with other autoimmune diseases. In genetic studies since 2007, a partial genetic overlap between these diseases has been revealed and further insights into the pathophysiology of coeliac disease and autoimmunity

  4. DROSOPHILA MELANOGASTER MG. AS THE TEST-OBJECT FOR SCREENING XENOBIOTICS ON ACARICIDAL ACTIVITY

    Directory of Open Access Journals (Sweden)

    Belokon S.V.

    2015-04-01

    Full Text Available The development of new effective test systems for screening xenobiotics on biological activity, including its possible harmful influence on the organism is the modern challenge. Test systems of eukaryotic origin are needed for testing of xenobiotics on their gonadotoxical, embryotoxic, teratogenic, and carcinogenic effects. Such testing should include the monitoring of genetic effects of bioactive compounds and the possible mutagenic effect. The Drosophila melanogaster Mg. is very convenient test object as a classical genetics object, for which the genome is fully sequenced. It is convenient and easy to find out the frequency of crossingover in different parts of the genome, and study the key indicators of vitality and ontogenetic adaptation (fertility, longevity, survival under stress conditions, etc. on Drosophila. The crossover frequency, in our opinion, can be an integral factor for the general state of genotype.so we could use the mark of genetic recombination frequency as one of the indicators of the impact of xenobiotics. In this study we examined the possibility of using Drosophila melanogaster Mg. (Diptera, Drosophilidae as a test object for screening xenobiotics on acaricidal activity. Sensitivity of flies to acaricides piridaben (Sanmayt and proparhit (Omayt was studied by their fitness, longevity, fertility, and frequency of meiotic recombination in the area b-vg second chromosome. It was found that the studied compounds - piridaben and proparhit have significant influence on vitality of D. melanogaster. The presence of these acaricides in the nutrition of flies testifies the harmful influence on their crossingover and reduced fecundity and longevity. We suggested to use the D. melanogaster as a test object for screening xenobiotics on acaricidal activity.

  5. Clinical and genetic aspects of bicuspid aortic valve: a proposed model for family screening based on a review of literature

    Directory of Open Access Journals (Sweden)

    Hubert Baars

    2015-04-01

    Full Text Available Bicuspid aortic valve (BAV is the most common congenital cardiac defect causing serious morbidity including valvular dysfunction and thoracic aortic aneurysms (TAA in around 30% of BAV patients. Cardiological screening of first-degree relatives is advised in recent guidelines given the observed familial clustering of BAV. However, guidelines regarding screening of family members and DNA testing are not unequivocal. The aim of this review is to provide an overview of the literature on echocardiographic screening in first-degree relatives of BAV patients and to propose a model for family screening. In addition, we provide a flowchart for DNA testing. We performed a PubMed search and included studies providing data on echocardiographic screening in asymptomatic relatives of BAV patients. Nine studies were included. In 5.8-47.4% of the families BAV was shown to be familial. Of the screened first-degree relatives 1.8-11% was found to be affected with BAV. Results regarding a potential risk of TAA in first-degree relatives with a tricuspid aortic valve (TAV were conflicting. The reported familial clustering of BAV underlines the importance of cardiological screening in relatives. After reviewing the available family history, patient characteristics and the results of cardiological screening in relatives, follow-up in relatives with a TAV and/or DNA testing may be advised in a subset of families. In this study we propose a model for the clinical and genetic work-up in BAV families, based on the most extensive literature review on family screening performed until now.

  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 willingness-to-pay for genetic services is increasingly important as testing is integrated into routine cancer care.

  7. A recessive genetic screen for components of the RNA interference pathway in mouse embryonic stem cells.

    Science.gov (United States)

    Trombly, Melanie I; Wang, Xiaozhong

    2010-01-01

    Several key components of the RNA interference (RNAi) pathway were identified in genetic screens performed in nonmammalian model organisms. To identify components of the mammalian RNAi pathway, we developed a recessive genetic screen in mouse embryonic stem (ES) cells. Recessive genetic screens are feasible in ES cells that are Bloom-syndrome protein (Blm-) deficient. Therefore, we constructed a reporter cell line in Blm-deficient ES cells to isolate RNAi mutants through a simple drug-selection scheme. This chapter describes how we used retroviral gene traps to mutagenize the reporter cell line and select for RNAi mutants. Putative RNAi mutants were confirmed using a separate functional assay. The location of the gene trap was then identified using molecular techniques such as Splinkerette PCR. Our screening strategy successfully isolated several mutant clones of Argonaute2, a vital component of the RNAi pathway.

  8. A Sleeping Beauty DNA transposon-based genetic sensor for functional screening of vitamin D3 analogues

    DEFF Research Database (Denmark)

    Staunstrup, Nicklas Heine; Sharma, Nynne; Bak, Rasmus Otkjær;

    2011-01-01

    Analogues of vitamin D3 are extensively used in the treatment of various illnesses, such as osteoporosis, inflammatory skin diseases, and cancer. Functional testing of new vitamin D3 analogues and formulations for improved systemic and topical administration is supported by sensitive screening me...... analogues. The tri-cistronic genetic sensor encodes a drug-sensoring protein, a reporter protein expressed from an activated sensor-responsive promoter, and a resistance marker....

  9. 遗传测试和遗传咨询%Genetic testing and genetic consultation

    Institute of Scientific and Technical Information of China (English)

    郁凯明

    2012-01-01

    遗传物质的突变,包括基因突变或染色体畸变,是遗传病发生的根源,也是区别于其他疾病的基本特点.大力开展遗传测试及筛查,及时检出遗传病患者及致病基因携带者,是提高人口素质,促进家庭幸福、社会繁荣、国家昌盛的唯一可行的方法.遗传咨询对于检出遗传病患者及致病基因携带者,并进行有效、可行的婚姻指导、生育指导,以减少或防止遗传病患儿的发生和发病,发挥着相当重要的作用.在产前诊断中涉及疾病胎儿处理的道德选择问题上,遵循四项基本准则:第一,尊重夫妇双方的选择;第二,对个人和家庭不产生伤害;第三,产前诊断的结果可靠;第四,产前诊断和遗传咨询的自愿性.这些准则无疑在世界各国有着共同性.%the mutation genetic material, including genetic mutations or chromosome aberration, is the source of genetic disease happen, is also different from other diseases of the basic characteristics. Vigorously developing test and genetic screening, timely detection genetic disease patients and virulence genes carriers, is the only feasible method to improve population quality, promote a happy family, social prosperity, prosperous country. Genetic counseling for detection genetic disease patients and virulence genes carriers, and effective and feasible marriage guidance, birth guidance, play an important role in reducing the birth of the sick children and preventing the happening of the disease of children. In prenatal diagnosis of the fetus involved in disease treatment of moral choice in the problem, follow the four basic principles: first, respect the couple's choice; second, don't damage the individual and family; third, reliable prenatal diagnosis results; fourth, voluntary prenatal diagnosis and genetic counseling. These standards in all countries of the world have undoubtedly commonalities.

  10. Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency

    OpenAIRE

    Dowsett, Leah; Lulis, Lauren; Ficicioglu, Can; Cuddapah, Sanmati

    2017-01-01

    An 18-month-old male was evaluated after presenting with disproportionately elevated liver transaminases in the setting of acute gastroenteritis. He had marked hepatomegaly on physical exam that was later confirmed with an abdominal ultrasound. Given this clinical picture, suspicion for a fatty acid oxidation disorder was raised. Further investigation revealed that his initial newborn screen was positive for carnitine palmitoyltransferase 1A (CPT1A) deficiency?a rare autosomal recessive disor...

  11. Screening for mikroalbuminuri med Micral-Test. En semikvantitativ urinstix

    DEFF Research Database (Denmark)

    Jensen, J S; Borch-Johnsen, K; Feldt-Rasmussen, B F;

    1993-01-01

    , screening for microalbuminuria is of major importance. A semi-quantitative urinary dipstick method, Micral-Test, has been developed for this purpose. In a urine sample collected overnight from each of 1359 subjects the Micral-Test was evaluated with a quantitative ELISA-method as the standard. Sensitivity......, specificity and diagnostic specificity in detecting microalbuminuria was 92, 58 and 12% respectively. The prevalence of microalbuminuria was 5.6%. In conclusion, the Micral-Test is highly sensitive in detecting microalbuminuria, but at the expense of a relatively high number of false positive tests....

  12. Evaluation of the screening test results before marriage

    Directory of Open Access Journals (Sweden)

    Süleyman Durmaz

    2011-09-01

    Full Text Available Objectives: Human immunodeficiency virus (HIV, Hepatitis B and Hepatitis C viruses and Treponema pallidum are parenterally and sexually transmitted infection agents. Screening test is made before marriage to pre-marital couples legally under the relevant legislation and legal procedures in our country; applicants are evaluated in terms of sexually transmitted diseases. The aim of this study is to evaluate pre-marital test results for HBsAg, anti-HCV, anti-HIV I/II and Treponema pallidum.Materials and methods: To make screening test before marriage, randomized 117 patients who were applied to Kızıltepe General Hospital of Infectious Diseases and Clinical Microbiology, were included in this study between January 2011 and March 2011. Of these patients, 64 were women (average age 24.7±5.7, and 55 were males (mean age 24.7±4.7. HBsAg, anti-HCV and anti-HIV I/II tests of the patients were studied by macro-ELISA device (ECIQ Vitros, Ortho Clinical Diagnostics, USA, screening of anti-Treponema pallidum IgG, IgA and IgM antibodies were studied by immunochromatographic rapid test (syphilis syphilis 3.0, Standard Diagnostics, inc. Korea.Results: Of the 119 patients, five patients (4.2% were positive for HBsAg (3 male and 2 female. Anti-HCV, anti-HIV I/II and anti-Treponema pallidum antibodies were negative in all patients.Conclusion: HBsAg test result which was obtained in present study has been found consistent with HBsAg positivity rate in our region. As a result of screening test that was done before marriage will continue to believe that the increased importance of the prevention of sexually transmitted diseases. J Clin Exp Invest 2011; 2 (3: 292-294.

  13. Optimal Trend Tests for Genetic Association Studies of Heterogeneous Diseases.

    Science.gov (United States)

    Lee, Wen-Chung

    2016-06-09

    The Cochran-Armitage trend test is a standard procedure in genetic association studies. It is a directed test with high power to detect genetic effects that follow the gene-dosage model. In this paper, the author proposes optimal trend tests for genetic association studies of heterogeneous diseases. Monte-Carlo simulations show that the power gain of the optimal trend tests over the conventional Cochran-Armitage trend test is striking when the genetic effects are heterogeneous. The easy-to-use R 3.1.2 software (R Foundation for Statistical Computing, Vienna, Austria) code is provided. The optimal trend tests are recommended for routine use.

  14. Counseling customers: emerging roles for genetic counselors in the direct-to-consumer genetic testing market.

    Science.gov (United States)

    Harris, Anna; Kelly, Susan E; Wyatt, Sally

    2013-04-01

    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 companies offer genetic counseling. There has been no examination to date of this service provision, whether it meets critics' concerns and implications it may have for the genetic counseling profession. Considering the increasing relevance of genetics in healthcare, the complexity of genetic information provided by DTC GT, the mediating role of the internet in counseling, and potential conflicts of interest, this is a topic which deserves further attention. In this paper we offer a discourse analysis of ways in which genetic counseling is represented on DTC GT websites, blogs and other online material. This analysis identified four types of genetic counseling represented on the websites: the integrated counseling product; discretionary counseling; independent counseling; and product advice. Genetic counselors are represented as having the following roles: genetics educator; mediator; lifestyle advisor; risk interpreter; and entrepreneur. We conclude that genetic counseling as represented on DTC GT websites demonstrates shifting professional roles and forms of expertise in genetic counseling. Genetic counselors are also playing an important part in how the genetic testing market is taking shape. Our analysis offers important and timely insights into recent developments in the genetic counseling profession, which have relevance for practitioners, researchers and policy makers concerned with the evolving field of personal genomics.

  15. 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.

    2012-01-01

    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 popula

  16. Applying theological developments to bioethical issues such as genetic screening.

    NARCIS (Netherlands)

    Mallia, P.; Have, H.A.M.J. ten

    2005-01-01

    Catholic movements within the centre of Roman Catholic doctrine recently have discussed Trinitarian theology as applied to sciences, arts, economics, health and other social areas. We explore the possibilities Trinitarian theology offers to bioethical debate, concentrating particularly on genetic sc

  17. Screening for oral precancer with noninvasive genetic cytology

    NARCIS (Netherlands)

    Bremmer, J.F.; Graveland, A.P.; Brink, A.; Braakhuis, B.J.M.; Kuik, D.J.; Leemans, C.R.; Bloemena, E.; van der Waal, I.; Brakenhoff, R.H.

    2009-01-01

    Oral squamous cell carcinomas develop in precancerous fields consisting of genetically altered mucosal epithelial cells. These precancerous fields may appear as clinically visible lesions, in particular, oral leukoplakia, but the large majority remains clinically undetectable. The aim of this study

  18. Deaf Adults' Reasons for Genetic Testing Depend on Cultural Affiliation: Results from a Prospective, Longitudinal Genetic Counseling and Testing Study

    Science.gov (United States)

    Boudreault, Patrick; Baldwin, Erin E.; Fox, Michelle; Dutton, Loriel; Tullis, LeeElle; Linden, Joyce; Kobayashi, Yoko; Zhou, Jin; Sinsheimer, Janet S.; Sininger, Yvonne; Grody, Wayne W.; Palmer, Christina G. S.

    2010-01-01

    This article examines the relationship between cultural affiliation and deaf adults' motivations for genetic testing for deafness in the first prospective, longitudinal study to examine the impact of genetic counseling and genetic testing on deaf adults and the deaf community. Participants (n = 256), classified as affiliating with hearing, Deaf,…

  19. Simple test guidelines for screening oilspill sorbents for toxicity

    Energy Technology Data Exchange (ETDEWEB)

    Blenkinsopp, S.A.; Sergy, G. [Environment Canada, Edmonton, AB (Canada); Doe, K.; Jackman, P. [Environment Canada, Moncton, NB (Canada); Huybers, A. [Harris Industrial Testing Services Ltd., Milford, NS (Canada)

    1998-09-01

    Environment Canada`s Emergencies Science Division has established a program to develop a standard test method suitable for evaluating the toxicity of common sorbent materials. Sorbents are used to absorb or adsorb spilled oil and other hazardous materials. They vary widely in composition and packaging. They are often treated with oleophilic and hydrophobic compounds to improve performance and have been used in large quantities during oil spills. Until now, their potential toxicity has never been considered. Three tests have been evaluated to determine how appropriate they are in screening the toxicity of sorbents. Seven toxicity test recommendations for sorbents were presented. 7 refs., 3 tabs., 2 figs.

  20. Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)

    NARCIS (Netherlands)

    Claustres, Mireille; Kozich, Viktor; Dequeker, Els; Fowler, Brain; Hehir-Kwa, Jayne Y.; Miller, Konstantin; Oosterwijk, Cor; Peterlin, Borut; van Ravenswaaij-Arts, Conny; Zimmermann, Uwe; Zuffardi, Orsetta; Hastings, Ros J.; Barton, David E.

    2014-01-01

    Genetic test results can have considerable importance for patients, their parents and more remote family members. Clinical therapy and surveillance, reproductive decisions and genetic diagnostics in family members, including prenatal diagnosis, are based on these results. The genetic test report sho

  1. International experience of informed consent and genetic counseling on non-invasive prenatal testing applied in Down syndrome prenatal screening%非侵入性产前检测技术知情同意与遗传咨询的国际经验

    Institute of Scientific and Technical Information of China (English)

    明坚; 许艳; 周萍; 黄葭燕; 陈英耀

    2015-01-01

    This paper summarized the international experience on the implementation of informed consent and genetic counseling when non-invasive prenatal testing(NIPT) applied in Down syndrome prenatal screening. Then its implications for China were discussed and some policy recommendations were put forward,including enhancing the training to the counselors and doctors,clearly defining the content of genetic counseling,and further standardizing the informed consent implementation.%围绕非侵入性产前检测技术(NIPT)应用于唐氏产前筛查的知情同意与遗传咨询实施,总结分析了国际相关经验与研究,并结合我国国情提出了相关政策建议。建议加强相关人员培训,明确知情告知内容,进一步规范知情同意与遗传咨询的操作实施。

  2. Genetic tests to identify risk for breast cancer.

    Science.gov (United States)

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

    2015-05-01

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

  3. Role of Genetic Testing in Inherited Cardiovascular Disease: A Review.

    Science.gov (United States)

    Cirino, Allison L; Harris, Stephanie; Lakdawala, Neal K; Michels, Michelle; Olivotto, Iacopo; Day, Sharlene M; Abrams, Dominic J; Charron, Philippe; Caleshu, Colleen; Semsarian, Christopher; Ingles, Jodie; Rakowski, Harry; Judge, Daniel P; Ho, Carolyn Y

    2017-08-09

    Genetic testing is a valuable tool for managing inherited cardiovascular disease in patients and families, including hypertrophic, dilated, and arrhythmogenic cardiomyopathies and inherited arrhythmias. By identifying the molecular etiology of disease, genetic testing can improve diagnostic accuracy and refine family management. However, unique features associated with genetic testing affect the interpretation and application of results and differentiate it from traditional laboratory-based diagnostics. Clinicians and patients must have accurate and realistic expectations about the yield of genetic testing and its role in management. Familiarity with the rationale, implications, benefits, and limitations of genetic testing is essential to achieve the best possible outcomes. Successfully incorporating genetic testing into clinical practice requires (1) recognizing when inherited cardiovascular disease may be present, (2) identifying appropriate individuals in the family for testing, (3) selecting the appropriate genetic test, (4) understanding the complexities of result interpretation, and (5) effectively communicating the results and implications to the patient and family. Obtaining a detailed family history is critical to identify families who will benefit from genetic testing, determine the best strategy, and interpret results. Instead of focusing on an individual patient, genetic testing requires consideration of the family as a unit. Consolidation of care in centers with a high level of expertise is recommended. Clinicians without expertise in genetic testing will benefit from establishing referral or consultative networks with experienced clinicans in specialized multidisciplinary clinics. Genetic testing provides a foundation for transitioning to more precise and individualized management. By distinguishing phenotypic subgroups, identifying disease mechanisms, and focusing family care, gene-based diagnosis can improve management. Successful integration of

  4. Deaf Adults’ Reasons for Genetic Testing Depend on Cultural Affiliation: Results From a Prospective, Longitudinal Genetic Counseling and Testing Study

    OpenAIRE

    Boudreault, Patrick; Baldwin, Erin E.; Fox, Michelle; Dutton, Loriel; Tullis, LeeElle; Linden, Joyce; Kobayashi, Yoko; Zhou, Jin; Sinsheimer, Janet S.; Sininger, Yvonne; Grody, Wayne W.; Palmer, Christina G. S.

    2010-01-01

    This article examines the relationship between cultural affiliation and deaf adults’ motivations for genetic testing for deafness in the first prospective, longitudinal study to examine the impact of genetic counseling and genetic testing on deaf adults and the deaf community. Participants (n = 256), classified as affiliating with hearing, Deaf, or both communities, rated interest in testing for 21 reasons covering 5 life domains. Findings suggest strong interest in testing to learn why they ...

  5. Thermal Protection System Aerothermal Screening Tests in HYMETS Facility

    Science.gov (United States)

    Szalai, Christine E.; Beck, Robin A. S.; Gasch, Matthew J.; Alumni, Antonella I.; Chavez-Garcia, Jose F.; Splinter, Scott C.; Gragg, Jeffrey G.; Brewer, Amy

    2011-01-01

    The Entry, Descent, and Landing (EDL) Technology Development Project has been tasked to develop Thermal Protection System (TPS) materials for insertion into future Mars Entry Systems. A screening arc jet test of seven rigid ablative TPS material candidates was performed in the Hypersonic Materials Environmental Test System (HYMETS) facility at NASA Langley Research Center, in both an air and carbon dioxide test environment. Recession, mass loss, surface temperature, and backface thermal response were measured for each test specimen. All material candidates survived the Mars aerocapture relevant heating condition, and some materials showed a clear increase in recession rate in the carbon dioxide test environment. These test results supported subsequent down-selection of the most promising material candidates for further development.

  6. Adequacy of the ELISA test for screening corneal transplant donors.

    Science.gov (United States)

    Goode, S M; Hertzmark, E; Steinert, R F

    1988-10-15

    Using a simple mathematical model, we calculated the risk for a patient undergoing penetrating keratoplasty to receive a cornea from a human immunodeficiency virus-infected donor despite negative results on serologic testing of donor serum. This error in serologic testing occurred when false-negative results were obtained from the enzyme-linked immunosorbent assay used to screen donor corneas for human immunodeficiency virus exposure. The average risk of transplanting an infected cornea was low, 0.03%, but increased by a factor of ten when donor tissue from donors at high risk for AIDS was used. Current screening procedures are probably adequate to prevent transmission of human immunodeficiency virus, but increased vigilance for high-risk donor populations may be appropriate.

  7. Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

    Science.gov (United States)

    Claustres, Mireille; Kožich, Viktor; Dequeker, Els; Fowler, Brain; Hehir-Kwa, Jayne Y; Miller, Konstantin; Oosterwijk, Cor; Peterlin, Borut; van Ravenswaaij-Arts, Conny; Zimmermann, Uwe; Zuffardi, Orsetta; Hastings, Ros J; Barton, David E

    2014-02-01

    Genetic test results can have considerable importance for patients, their parents and more remote family members. Clinical therapy and surveillance, reproductive decisions and genetic diagnostics in family members, including prenatal diagnosis, are based on these results. The genetic test report should therefore provide a clear, concise, accurate, fully interpretative and authoritative answer to the clinical question. The need for harmonizing reporting practice of genetic tests has been recognised by the External Quality Assessment (EQA), providers and laboratories. The ESHG Genetic Services Quality Committee has produced reporting guidelines for the genetic disciplines (biochemical, cytogenetic and molecular genetic). These guidelines give assistance on report content, including the interpretation of results. Selected examples of genetic test reports for all three disciplines are provided in an annexe.

  8. Screening for Outliers in Multiple Trait Genetic Evaluarion

    DEFF Research Database (Denmark)

    Madsen, Per; Pösa, Jukka; Pedersen, Jørn

    2012-01-01

    genetic evaluation in dairy cattle. Application of such is simple to implement and increased the accuracy of predicted breeding values for animals that has one or more records edited. Potential biases in evaluations for contemporary animals were also reduced. Optimum editing rules can be determined using......Use of multivariate models in genetic evaluation requires a multivariate method for detecting erroneous outliers that cannot be detected using univariate methods. A simple rule for detecting outliers based on an approximated Mahanalobis distance was applied to Jersey data from the routine Nordic...

  9. No beneficial effect of preimplantation genetic screening in women of advanced maternal age with a high risk for embryonic aneuploidy

    NARCIS (Netherlands)

    Twisk, Moniek; Mastenbroek, Sebastiaan; Hoek, Annemieke; Heineman, Maas-Jan; van der Veen, Fulco; Bossuyt, Patrick M.; Repping, Sjoerd; Korevaar, Johanna C.

    2008-01-01

    Human preimplantation embryos generated through in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) treatments show a variable rate of numerical chromosome abnormalities or aneuploidies. Preimplantation genetic screening (PGS) has been designed to screen for aneuploidies in high

  10. No beneficial effect of preimplantation genetic screening in women of advanced maternal age with a high risk for embryonic aneuploidy

    NARCIS (Netherlands)

    Twisk, Moniek; Mastenbroek, Sebastiaan; Hoek, Annemieke; Heineman, Maas-Jan; van der Veen, Fulco; Bossuyt, Patrick M.; Repping, Sjoerd; Korevaar, Johanna C.

    2008-01-01

    Human preimplantation embryos generated through in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) treatments show a variable rate of numerical chromosome abnormalities or aneuploidies. Preimplantation genetic screening (PGS) has been designed to screen for aneuploidies in high

  11. 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...... sequencing (NGS) featured with high throughput and low cost of sequencing capacity develops fast, especially with the improvement of its read length, read accuracy and the immergence of small-sized machines, making it a powerful genetic testing tool. In this study, we applied NGS to develop novel genetic...... developed a targeted sequencing based preimplantation genetic diagnosis (PGD) method for monogenic diseases and tested it in a family suffering from β-thalassaemia major undergoing PGD. Moreover, we developed a method which can achieve detection of point mutation and copy number variation simultaneously...

  12. 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...... sequencing (NGS) featured with high throughput and low cost of sequencing capacity develops fast, especially with the improvement of its read length, read accuracy and the immergence of small-sized machines, making it a powerful genetic testing tool. In this study, we applied NGS to develop novel genetic...... developed a targeted sequencing based preimplantation genetic diagnosis (PGD) method for monogenic diseases and tested it in a family suffering from β-thalassaemia major undergoing PGD. Moreover, we developed a method which can achieve detection of point mutation and copy number variation simultaneously...

  13. Serological Testing in Screening for Adult Celiac Disease

    Directory of Open Access Journals (Sweden)

    Helen Rachel Gillett

    1999-01-01

    Full Text Available Assays for celiac-related antibodies are becoming widely available, and the present review aims to clarify the use of these investigations in the diagnosis of, management of and screening for adult celiac disease. The sensitivities and specificities of various antibody tests are discussed, along with their clinical use as an adjunct to small bowel biopsy, and as a first-line investigation for patients with atypical symptoms of celiac disease or patients at high risk of developing sprue.

  14. 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…

  15. 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…

  16. A genetic screen for components of the mammalian RNA interference pathway in Bloom-deficient mouse embryonic stem cells

    OpenAIRE

    2009-01-01

    Genetic screens performed in model organisms have helped identify key components of the RNA interference (RNAi) pathway. Recessive genetic screens have recently become feasible through the use of mouse embryonic stem (ES) cells that are Bloom's syndrome protein (Blm) deficient. Here, we developed and performed a recessive genetic screen to identify components of the mammalian RNAi pathway in Blm-deficient ES cells. Genome-wide mutagenesis using a retroviral gene trap strategy resulted in the ...

  17. Screening of spontaneous castor bean accesses for genetic ...

    African Journals Online (AJOL)

    Tuoyo Aghomotsegin

    2016-10-05

    Oct 5, 2016 ... 1Department of Agricultural Engineering, Federal University of Campina Grande ... sizing the consequences of human actions in the ... significant increase in the literature of the use of ... genetic improvement programs of this culture in Brazil, ... subsequent selection according to color pattern, weight, health,.

  18. A new screening test for the protein C anticoagulant pathway : the PCP test.

    NARCIS (Netherlands)

    Meinardi, [No Value; Bom, FH; van der Meer, J; van der Schaaf, W

    1999-01-01

    Summ Objective: Evaluation of a new screening test of the Protein C anticoagulant Pathway, the PCP(TM) test. Design: Retrospective. Setting: Universital Hospital. Subjects and Materials: In the PCP(TM) test, the ratio of two phospholipid rich Russel viper venom (PRVV)-initiated clotting times,

  19. Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

    Science.gov (United States)

    Trujillano, Daniel; Weiss, Maximilian E R; Köster, Julia; Papachristos, Efstathios B; Werber, Martin; Kandaswamy, Krishna Kumar; Marais, Anett; Eichler, Sabrina; Creed, Jenny; Baysal, Erol; Jaber, Iqbal Yousuf; Mehaney, Dina Ahmed; Farra, Chantal; Rolfs, Arndt

    2015-09-01

    Genetic testing for cystic fibrosis and CFTR-related disorders mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the CFTR gene. We have explored a more efficient genetic screening strategy based on next-generation sequencing (NGS) of the CFTR gene. We validated this approach in a cohort of 177 patients with previously known CFTR mutations and polymorphisms. Genomic DNA was amplified using the Ion AmpliSeq™ CFTR panel. The DNA libraries were pooled, barcoded, and sequenced using an Ion Torrent PGM sequencer. The combination of different robust bioinformatics tools allowed us to detect previously known pathogenic mutations and polymorphisms in the 177 samples, without detecting spurious pathogenic calls. In summary, the assay achieves a sensitivity of 94.45% (95% CI: 92% to 96.9%), with a specificity of detecting nonvariant sites from the CFTR reference sequence of 100% (95% CI: 100% to 100%), a positive predictive value of 100% (95% CI: 100% to 100%), and a negative predictive value of 99.99% (95% CI: 99.99% to 100%). In addition, we describe the observed allelic frequencies of 94 unique definitely and likely pathogenic, uncertain, and neutral CFTR variants, some of them not previously annotated in the public databases. Strikingly, a seven exon spanning deletion as well as several more technically challenging variants such as pathogenic poly-thymidine-guanine and poly-thymidine (poly-TG-T) tracts were also detected. Targeted NGS is ready to substitute classical molecular methods to perform genetic testing on the CFTR gene.

  20. Iterative Cellular Screening System for Nanoparticle Safety Testing

    Directory of Open Access Journals (Sweden)

    Franziska Sambale

    2015-01-01

    Full Text Available Nanoparticles have the potential to exhibit risks to human beings and to the environment; due to the wide applications of nanoproducts, extensive risk management must not be neglected. Therefore, we have constructed a cell-based, iterative screening system to examine a variety of nanoproducts concerning their toxicity during development. The sensitivity and application of various cell-based methods were discussed and proven by applying the screening to two different nanoparticles: zinc oxide and titanium dioxide nanoparticles. They were used as benchmarks to set up our methods and to examine their effects on mammalian cell lines. Different biological processes such as cell viability, gene expression of interleukin-8 and heat shock protein 70, as well as morphology changes were investigated. Within our screening system, both nanoparticle suspensions and coatings can be tested. Electric cell impedance measurements revealed to be a good method for online monitoring of cellular behavior. The implementation of three-dimensional cell culture is essential to better mimic in vivo conditions. In conclusion, our screening system is highly efficient, cost minimizing, and reduces the need for animal studies.

  1. Genetic Testing and Psychology: New Roles, New Responsibilities

    Science.gov (United States)

    Patenaude, Andrea Farkas; Guttmacher, Alan E.; Collins, Francis S.

    2002-01-01

    Advances in genetics and genetic testing promise to catalyze a fundamental change in the practice of medicine. Psychologists have much to offer as psychotherapists, researchers, educators, and policymakers to a society heavily influenced by the genetic revolution. To make the most of new opportunities available to mental health professionals in…

  2. Moderating effects of autism on parent views of genetic screening for aggression.

    Science.gov (United States)

    May, Michael E; Brandt, Rachel C; Bohannan, Joseph K

    2012-10-01

    Advances in gene-environment interaction research have revealed genes that are associated with aggression. However, little is known about parent perceptions of genetic screening for behavioral symptoms like aggression as opposed to diagnosing disabilities. These perceptions may influence future research endeavors involving genetic linkage studies to behavior, including proactive approaches for parents to avoid events leading to aggression. The purpose of this study was to solicit the perspectives of parents who have children with autism about screening for genes associated with aggression, compared to responses from those who have children without disabilities and those planning to have children. Parents of children with autism were more likely to support screening and the use of the results to seek treatment if necessary. Results are discussed in the context of surveillance screening and systematic early intervention for behavioral symptoms related to autism. The results may provide insight for clincians, researchers, policymakers, and advocacy groups related to diagnosing and treating aggression in people with autism.

  3. Evaluation of carbapenemase screening and confirmation tests with Enterobacteriaceae and development of a practical diagnostic algorithm.

    Science.gov (United States)

    Maurer, Florian P; Castelberg, Claudio; Quiblier, Chantal; Bloemberg, Guido V; Hombach, Michael

    2015-01-01

    Reliable identification of carbapenemase-producing members of the family Enterobacteriaceae is necessary to limit their spread. This study aimed to develop a diagnostic flow chart using phenotypic screening and confirmation tests that is suitable for implementation in different types of clinical laboratories. A total of 334 clinical Enterobacteriaceae isolates genetically characterized with respect to carbapenemase, extended-spectrum β-lactamase (ESBL), and AmpC genes were analyzed. A total of 142/334 isolates (42.2%) were suspected of carbapenemase production, i.e., intermediate or resistant to ertapenem (ETP) and/or meropenem (MEM) and/or imipenem (IPM) according to EUCAST clinical breakpoints (CBPs). A group of 193/334 isolates (57.8%) showing susceptibility to ETP, MEM, and IPM was considered the negative-control group in this study. CLSI and EUCAST carbapenem CBPs and the new EUCAST MEM screening cutoff were evaluated as screening parameters. ETP, MEM, and IPM with or without aminophenylboronic acid (APBA) or EDTA combined-disk tests (CDTs) and the Carba NP-II test were evaluated as confirmation assays. EUCAST temocillin cutoffs were evaluated for OXA-48 detection. The EUCAST MEM screening cutoff (carbapenemase confirmation. ETP and MEM EDTA CDTs showed 100% sensitivity and specificity for class B carbapenemases. Temocillin zone diameters/MIC testing on MH-CLX was highly specific for OXA-48 producers. The overall sensitivity, specificity, positive predictive value, and negative predictive value of the Carba NP-II test were 78.9, 100, 100, and 98.7%, respectively. Combining the EUCAST MEM carbapenemase screening cutoff (carbapenemase detection. Copyright © 2015, American Society for Microbiology. All Rights Reserved.

  4. Assessments of cognitive abilities in a mouse model of Parkinson's disease with a touch screen test.

    Science.gov (United States)

    Kwak, Chuljung; Lim, Chae-Seok; Kaang, Bong-Kiun

    2016-03-15

    Patients with Parkinson's disease (PD) experience both motor output deficits and cognitive disabilities. Various PD rodent models have been developed to investigate the genetic and brain circuit-related causes of PD and have contributed to the basic and clinical research and to therapeutic strategies for this disease. Most studies using PD rodent models have focused on the motor output deficits, rather than cognitive disabilities due to the lack of appropriate testing tools that do not require significant motor abilities. In this study, we assessed the cognitive disabilities of PD model mice using a touch screen test that required only little motor ability. We found that the PD model mice, which had motor deficits caused by unilateral striatal dopaminergic degeneration, successfully underwent operant conditioning with a touch screen test. Additionally, we found that the PD model mice demonstrated impaired location discrimination, but intact attention and reversal learning in the cognitive tests. Therefore, the touch screen test is useful for assessing hidden cognitive disabilities in disease model animals with decreased motor function.

  5. 厦门地区2960对育龄夫妇地中海贫血筛查及基因检测结果分析%Thalassaemia screening and genetic testing results in 2960 couples of childbearing age in Xiamen

    Institute of Scientific and Technical Information of China (English)

    陈涌泉; 王厚照; 张玲; 王玮玮; 骆园园; 杨艳; 程玲; 蓝惠华

    2016-01-01

    Objective To initially understand and analyze the prevalence and genetic distribution characteristics of thalassaemia in youths of childbearing age in Xiamen and to provide theory basis for genetic diagnosis,genetic counseling of thalassaemia,and reducing missed diagnosis and misdiagnosis.Methods 2 960 couples of childbearing age who came to our hospital for pregnancy eugenics health check from April,2013 to April,2016 were selected as study objects.Their blood samples were collected for screening tests of routine blood,hemoglobin electrophoresis,serum iron,and ferritin;and the positive patients of screening tests would be conducted thalassaemia genetic testing through "PCR + nylon membrane hybridization method ".Results 1 160 cases (19.59%) out of 2 960 couples of childbearing age had positive results of hematology screening tests;among which,408 cases of thalassaemia gene carriers were checked out(6.89%);there were 286 cases of α thalassaemia gene carriers(4.83%),and the most common thalassaemia genotype was--SEA/αα,accounting for 74.13% of the total α thalassaemia gene carriers;there were 114 cases of β thalassaemia gene carriers(1.93%),and the most common thalassaemia genotypes were CD41-42 (-TCTT) and IVS-2-654 (C→T),accounting for 34.21% and 32.46% of all the β thalassaemia gene carriers,respectively;there were 8 cases of α combined with β thalassaemia gene carriers(0.14%).Conclusions The gene mutation types of thalassaemia are complicated in Xiamen.The most common type of α thalassaemia gene carriers is--SEA/αα.The most common types of β thalassaemia gene carriers are CD41-42 (-TCTT) and IVS-2-654 (C-> T).For the patients positive in hematology screening tests,having further thalassaemia genetic diagnosis can avoid missed diagnosis and misdiagnosis,which will better provide basis for clinical thalassaemia diagnosis and genetic counseling.%目的 初步了解并分析厦门地区育龄青年地中海贫血(地贫)流行情况

  6. Media coverage of direct-to-consumer genetic testing.

    Science.gov (United States)

    Lynch, John; Parrott, Ashley; Hopkin, Robert J; Myers, Melanie

    2011-10-01

    Media coverage of Direct-to-Consumer (DTC) genetic testing shapes public perception of such testing. The purpose of this study was to determine and assess the themes presented by U.S. news media regarding DTC genetic testing. We performed a Lexis-Nexis search with the keywords "Direct-to-Consumer" and "genetic test" for news stories published from 2006-2009. The sample was coded on themes of genetic determinism, privacy, discrimination, validity, regulation, the Genetic Information Nondiscrimination Act (GINA), utility, and cost. Ninety-two news stories were included. Stories displayed moderate genetic determinism and were neutral about validity and utility. Stories indicated that insurance and employers were the most likely sources of discrimination, yet identified the physicians and DTC companies as groups most likely to violate privacy. Stories claimed lack of regulation would harm consumers, but most post-GINA stories did not discuss the law. The costs of tests were frequently included. The results of this study show a broad range of views toward DTC genetic testing and its potential impacts. The genetics community should be aware that the public has been exposed to multiple views of DTC genetic testing when discussing these tests.

  7. 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 background...... document in preparation of the development of the policy recommendations of the Public and Professional Committee of the European Society of Human Genetics. This background paper first discusses some general considerations with regard to the provision of genetic tests to minors. It discusses the concept...... of best interests, participation of minors in health-care decisions, parents' responsibilities to share genetic information, the role of clinical genetics and the health-care system in communication within the family. Second, it discusses, respectively, the presymptomatic and predictive genetic testing...

  8. Practical experiences with an extended screening strategy for genetically modified organisms (GMOs) in real-life samples.

    Science.gov (United States)

    Scholtens, Ingrid; Laurensse, Emile; Molenaar, Bonnie; Zaaijer, Stephanie; Gaballo, Heidi; Boleij, Peter; Bak, Arno; Kok, Esther

    2013-09-25

    Nowadays most animal feed products imported into Europe have a GMO (genetically modified organism) label. This means that they contain European Union (EU)-authorized GMOs. For enforcement of these labeling requirements, it is necessary, with the rising number of EU-authorized GMOs, to perform an increasing number of analyses. In addition to this, it is necessary to test products for the potential presence of EU-unauthorized GMOs. Analysis for EU-authorized and -unauthorized GMOs in animal feed has thus become laborious and expensive. Initial screening steps may reduce the number of GMO identification methods that need to be applied, but with the increasing diversity also screening with GMO elements has become more complex. For the present study, the application of an informative detailed 24-element screening and subsequent identification strategy was applied in 50 animal feed samples. Almost all feed samples were labeled as containing GMO-derived materials. The main goal of the study was therefore to investigate if a detailed screening strategy would reduce the number of subsequent identification analyses. An additional goal was to test the samples in this way for the potential presence of EU-unauthorized GMOs. Finally, to test the robustness of the approach, eight of the samples were tested in a concise interlaboratory study. No significant differences were found between the results of the two laboratories.

  9. PRENATAL DIAGNOSIS AND SCREENING OF GENETIC ABNORMALITIES IN EARLY PREGNANCY

    Directory of Open Access Journals (Sweden)

    Jyothi Kiran Kohli

    2016-11-01

    Full Text Available BACKGROUND Genetic diseases are one of the major causes of hospital admissions due to disability and mortality particularly among children (1:5 children of hospital admission either partially/completely as distribution of genetic diseases is not related to socioeconomic background, which implies that developing world has a large number of genetic diseases largely left uncared for, i.e. overall incidence of foetal/neonatal loss due to genetic/genetic environmental causes are as follows: 1:50 newborns have major congenital abnormality, 1:100 have a unifactorial disorder, 1:200 have a major chromosomal abnormality before birth. Diagnosis of chromosomal anomalies in foetus is one of the most important challenges in modern perinatology as invasive or noninvasive methods. The aim of the study is to review on cytogenetic evaluation of CVS obtained (transcervically during first trimester of pregnancy by direct karyotyping of tissue. MATERIALS AND METHODS This study was conducted in 2001 in Department of Anatomy along with Obstetrics and Gynaecology Department, LNJP Hospital. 37 healthy cases with 6-12 weeks of gestational age coming for medical termination of pregnancy were included in the study. After written informed consent for procedure, ultrasound-guided transcervical chorionic villus sampling was done (Brambati’s method. Tissue procured was then processed for direct karyotyping and studied. Metaphase spreads were photographed and karyotypes prepared and studied. RESULTS Out of 37 pregnant females, 30 samples were successfully prepared and processed by Direct method out of which 23 were normal female (46, XX and 7 were normal male (46, XY. No normal anomaly was detected. Best biopsies were obtained with 8-12 weeks gestation. G Banding could not be performed as chromosome obtained were found to be resistant to banding. CONCLUSIONS To summarise chromosome preparations obtained from CVS by Direct method has advantage of providing sufficient number

  10. Rapid Color Test Identification System for Screening of Counterfeit Fluoroquinolone

    Directory of Open Access Journals (Sweden)

    B. K. Singh

    2009-01-01

    Full Text Available The protocol of rapid identification system consists of three chemical color reactions; two group tests for fluoroquinolone class and a compound specific test each for norfloxacin, ciprofloxacin, gatifloxacin, ofloxacin, levofloxacin and sparfloxacin. The group color reactions are based on (a Oxidizing behavior of quinolone and (b Fluorine functional groups, both of which are characteristic of fluoroquinolone class. The compound specific color reactions are developed taking into consideration unique chemical behavior of each compound. The proposed chemical color tests have high selectivity⁄specificity, are ideal for screening purpose. The color of each test was defined by two standard color systems namely CIE lab and Munsell color. A suspected counterfeit tablet of any of the above mentioned drugs can be identified within 10-15 min using this rapid identification system.

  11. Genetic Testing for Hereditary Cancer Syndromes

    Science.gov (United States)

    ... complaints about false or misleading health claims in advertisements. The American Society of Human Genetics, a membership ... at the National Institutes of Health FOLLOW US Facebook Twitter Instagram YouTube Google+ LinkedIn GovDelivery RSS CONTACT ...

  12. Impact of blastocyst biopsy and comprehensive chromosome screening technology on preimplantation genetic screening: a systematic review of randomized controlled trials.

    Science.gov (United States)

    Dahdouh, Elias M; Balayla, Jacques; García-Velasco, Juan Antonio

    2015-03-01

    Embryonic aneuploidy is highly prevalent in IVF cycles and contributes to decreased implantation rates, IVF cycle failure and early pregnancy loss. Preimplantation genetic screening (PGS) selects the most competent (euploid) embryos for transfer, and has been proposed to improve IVF outcomes. Use of PGS with fluorescence-in-situ hybridization technology after day 3 embryo biopsy (PGS-v1) significantly lowers live birth rates and is not recommended for use. Comprehensive chromosome screening technology, which assesses the whole chromosome complement, can be achieved using different genetic platforms. Whether PGS using comprehensive chromosome screening after blastocyst biopsy (PGS-v2) improves IVF outcomes remains to be determined. A systematic review of randomized controlled trials was conducted on PGS-v2. Three trials met full inclusion criteria, comparing PGS-v2 and routine IVF care. PGS-v2 is associated with higher clinical implantation rates, and higher ongoing pregnancy rates when the same number of embryos is transferred in both PGS and control groups. Additionally, PGS-v2 improves embryo selection in eSET practice, maintaining the same ongoing pregnancy rates between PGS and control groups, while sharply decreasing multiple pregnancy rates. These results stem from good-prognosis patients undergoing IVF. Whether these findings can be extrapolated to poor-prognosis patients with decreased ovarian reserve remains to be determined. Copyright © 2014 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  13. Apsáalooke women's experiences with Pap test screening.

    Science.gov (United States)

    Smith, Adina J; Christopher, Suzanne; LaFromboise, Victoria R; Letiecq, Bethany L; McCormick, Alma Knows His Gun

    2008-04-01

    Cervical cancer mortality rates are among the highest in the United States for Northern Plains Native American women compared with white and other Native American women. The aims of Messengers for Health, a community-based participatory research project based on the Apsáalooke (Crow Indian) Reservation, are to decrease cervical cancer screening barriers, improve knowledge regarding screening and prevention, and increase the proportion of women receiving Pap tests. This paper presents results from a survey assessing women's perceptions of the level of comfort and care received by health care providers in their most recent Pap test appointment. A survey assessing patient communication and satisfaction with their health care providers was conducted with a random sample of 101 Apsáalooke women. Qualitative and quantitative methods were utilized to analyze the survey data. Women reported both positive and negative experiences with their provider regarding their Pap test appointments. They noted positive experiences when trust was established and when the provider offered information, reassured or encouraged them, was personable, was familiar or consistent, maintained confidentiality, and was a woman. The women reported negative experiences when the examination was too short, when they did not have a consistent or female provider, and when they did not feel comfortable with the provider's nonverbal communication. Continued work with both providers and patients is necessary to decrease communication barriers and increase satisfaction with Pap test appointments.

  14. Expanded newborn screening by mass spectrometry: New tests, future perspectives.

    Science.gov (United States)

    Ombrone, Daniela; Giocaliere, Elisa; Forni, Giulia; Malvagia, Sabrina; la Marca, Giancarlo

    2016-01-01

    Tandem mass spectrometry (MS/MS) has become a leading technology used in clinical chemistry and has shown to be particularly sensitive and specific when used in newborn screening (NBS) tests. The success of tandem mass spectrometry is due to important advances in hardware, software and clinical applications during the last 25 years. MS/MS permits a very rapid measurement of many metabolites in different biological specimens by using filter paper spots or directly on biological fluids. Its use in NBS give us the chance to identify possible treatable metabolic disorders even when asymptomatic and the benefits gained by this type of screening is now recognized worldwide. Today the use of MS/MS for second-tier tests and confirmatory testing is promising especially in the early detection of new disorders such as some lysosomal storage disorders, ADA and PNP SCIDs, X-adrenoleucodistrophy (X-ALD), Wilson disease, guanidinoacetate methyltransferase deficiency (GAMT), and Duchenne muscular dystrophy. The new challenge for the future will be reducing the false positive rate by using second-tier tests, avoiding false negative results by using new specific biomarkers and introducing new treatable disorders in NBS programs.

  15. Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.

    Science.gov (United States)

    DiTommaso, Tia; Jones, Lynelle K; Cottle, Denny L; Gerdin, Anna-Karin; Vancollie, Valerie E; Watt, Fiona M; Ramirez-Solis, Ramiro; Bradley, Allan; Steel, Karen P; Sundberg, John P; White, Jacqueline K; Smyth, Ian M

    2014-10-01

    The skin is a highly regenerative organ which plays critical roles in protecting the body and sensing its environment. Consequently, morbidity and mortality associated with skin defects represent a significant health issue. To identify genes important in skin development and homeostasis, we have applied a high throughput, multi-parameter phenotype screen to the conditional targeted mutant mice generated by the Wellcome Trust Sanger Institute's Mouse Genetics Project (Sanger-MGP). A total of 562 different mouse lines were subjected to a variety of tests assessing cutaneous expression, macroscopic clinical disease, histological change, hair follicle cycling, and aberrant marker expression. Cutaneous lesions were associated with mutations in 23 different genes. Many of these were not previously associated with skin disease in the organ (Mysm1, Vangl1, Trpc4ap, Nom1, Sparc, Farp2, and Prkab1), while others were ascribed new cutaneous functions on the basis of the screening approach (Krt76, Lrig1, Myo5a, Nsun2, and Nf1). The integration of these skin specific screening protocols into the Sanger-MGP primary phenotyping pipelines marks the largest reported reverse genetic screen undertaken in any organ and defines approaches to maximise the productivity of future projects of this nature, while flagging genes for further characterisation.

  16. Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.

    Directory of Open Access Journals (Sweden)

    Tia DiTommaso

    2014-10-01

    Full Text Available The skin is a highly regenerative organ which plays critical roles in protecting the body and sensing its environment. Consequently, morbidity and mortality associated with skin defects represent a significant health issue. To identify genes important in skin development and homeostasis, we have applied a high throughput, multi-parameter phenotype screen to the conditional targeted mutant mice generated by the Wellcome Trust Sanger Institute's Mouse Genetics Project (Sanger-MGP. A total of 562 different mouse lines were subjected to a variety of tests assessing cutaneous expression, macroscopic clinical disease, histological change, hair follicle cycling, and aberrant marker expression. Cutaneous lesions were associated with mutations in 23 different genes. Many of these were not previously associated with skin disease in the organ (Mysm1, Vangl1, Trpc4ap, Nom1, Sparc, Farp2, and Prkab1, while others were ascribed new cutaneous functions on the basis of the screening approach (Krt76, Lrig1, Myo5a, Nsun2, and Nf1. The integration of these skin specific screening protocols into the Sanger-MGP primary phenotyping pipelines marks the largest reported reverse genetic screen undertaken in any organ and defines approaches to maximise the productivity of future projects of this nature, while flagging genes for further characterisation.

  17. Comparison of Hybrid capture 2 testing at different thresholds with cytology as primary cervical screening test

    OpenAIRE

    Rijkaart, D. C.; Coupé, V M H; Kemenade, van, PM Patricia; Heideman, D A M; Hesselink, A. T.; Verweij, W.; Rozendaal, L; Verheijen, R H; Snijders, P. J. F.; Berkhof, J; Meijer, C J L M

    2010-01-01

    Background: We evaluated the performance of primary high-risk human papillomavirus (hrHPV) testing by hybrid capture 2 (HC2) with different thresholds for positivity, in comparison with conventional cytology. Methods: We used data of 25 871 women (aged 30–60 years) from the intervention group of the VUSA-Screen study (VU University Medical Center and Saltro laboratory population-based cervical screening study), who were screened by cytology and hrHPV. Primary outcome measure was the number of...

  18. Evaluation of a novel electronic genetic screening and clinical decision support tool in prenatal clinical settings.

    Science.gov (United States)

    Edelman, Emily A; Lin, Bruce K; Doksum, Teresa; Drohan, Brian; Edelson, Vaughn; Dolan, Siobhan M; Hughes, Kevin; O'Leary, James; Vasquez, Lisa; Copeland, Sara; Galvin, Shelley L; DeGroat, Nicole; Pardanani, Setul; Gregory Feero, W; Adams, Claire; Jones, Renee; Scott, Joan

    2014-07-01

    "The Pregnancy and Health Profile" (PHP) is a free prenatal genetic screening and clinical decision support (CDS) software tool for prenatal providers. PHP collects family health history (FHH) during intake and provides point-of-care risk assessment for providers and education for patients. This pilot study evaluated patient and provider responses to PHP and effects of using PHP in practice. PHP was implemented in four clinics. Surveys assessed provider confidence and knowledge and patient and provider satisfaction with PHP. Data on the implementation process were obtained through semi-structured interviews with administrators. Quantitative survey data were analyzed using Chi square test, Fisher's exact test, paired t tests, and multivariate logistic regression. Open-ended survey questions and interviews were analyzed using qualitative thematic analysis. Of the 83% (513/618) of patients that provided feedback, 97% felt PHP was easy to use and 98% easy to understand. Thirty percent (21/71) of participating physicians completed both pre- and post-implementation feedback surveys [13 obstetricians (OBs) and 8 family medicine physicians (FPs)]. Confidence in managing genetic risks significantly improved for OBs on 2/6 measures (p values ≤0.001) but not for FPs. Physician knowledge did not significantly change. Providers reported value in added patient engagement and reported mixed feedback about the CDS report. We identified key steps, resources, and staff support required to implement PHP in a clinical setting. To our knowledge, this study is the first to report on the integration of patient-completed, electronically captured and CDS-enabled FHH software into primary prenatal practice. PHP is acceptable to patients and providers. Key to successful implementation in the future will be customization options and interoperability with electronic health records.

  19. A Forward Genetic Screening for Prostate Cancer Progression Genes

    Science.gov (United States)

    2012-10-01

    melanoma. Nature 436, 117‐122 (2005). 26. J.C. Cronin et al. Frequent mutations in the MITF pathway in melanoma.  Pigment   Cell Melanoma Res. 22, 435‐444... bacterial genetics. J Mol Biol 116: 125–159. 3. Ding S, Wu X, Li G, Han M, Zhuang Y, et al. (2005) Efficient transposition of the piggyBac (PB) transposon

  20. Post-mortem genetic testing in a family with long-QT syndrome and hypertrophic cardiomyopathy.

    Science.gov (United States)

    Kane, David A; Triedman, John

    2014-01-01

    Pediatric sudden unexplained deaths are rare and tragic events that should be evaluated with all the tools available to the medical community. The current state of genetic testing is an excellent resource that improves our ability to diagnose cardiovascular disorders that can lead to sudden cardiac arrest. Post-mortem genetic testing is not typically a covered benefit of health insurance and may not be offered to families in the setting of a negative autopsy. This unusual case includes two separate cardiovascular disorders that highlight the use of genetic testing and its role in diagnosis, screening, and risk stratification. The insurance company's decision to cover post-mortem testing demonstrated both compassion as well as an understanding of the long-term cost effectiveness.

  1. Are U.S. cancer screening test patterns consistent with guideline recommendations with respect to the age of screening initiation?

    Directory of Open Access Journals (Sweden)

    Kadiyala Srikanth

    2009-10-01

    Full Text Available Abstract Background U.S. cancer screening guidelines communicate important information regarding the ages for which screening tests are appropriate. Little attention has been given to whether breast, colorectal and prostate cancer screening test use is responsive to guideline age information regarding the age of screening initiation. Methods The 2006 Behavioral Risk Factor Social Survey and the 2003 National Health Interview Surveys were used to compute breast, colorectal and prostate cancer screening test rates by single year of age. Graphical and logistic regression analyses were used to compare screening rates for individuals close to and on either side of the guideline recommended screening initiation ages. Results We identified large discrete shifts in the use of screening tests precisely at the ages where guidelines recommend that screening begin. Mammography screening in the last year increased from 22% [95% CI = 20, 25] at age 39 to 36% [95% CI = 33, 39] at age 40 and 47% [95% CI = 44, 51] at age 41. Adherence to the colorectal cancer screening guidelines within the last year increased from 18% [95% CI = 15, 22] at age 49 to 19% [95% CI = 15, 23] at age 50 and 34% [95% CI = 28, 39] at age 51. Prostate specific antigen screening in the last year increased from 28% [95% CI = 25, 31] at age 49 to 33% [95% CI = 29, 36] and 42% [95% CI = 38, 46] at ages 50 and 51. These results are robust to multivariate analyses that adjust for age, sex, income, education, marital status and health insurance status. Conclusion The results from this study suggest that cancer screening test utilization is consistent with guideline age information regarding the age of screening initiation. Screening test and adherence rates increased by approximately 100% at the breast and colorectal cancer guideline recommended ages compared to only a 50% increase in the screening test rate for prostate cancer screening. Since information regarding the age of cancer screening

  2. 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,

  3. 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,

  4. 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,

  5. 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,

  6. LEGAL ASPECTS OF DIRECT-TO-CONSUMER GENETIC TESTS.

    Directory of Open Access Journals (Sweden)

    Mariela Yaneva – Deliverska

    2011-06-01

    Full Text Available Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. Most of the time, testing is used to find changes that are associated with inherited disorders. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. The main difference between direct-to-consumer genetic testing and the standard genetic testing is the way informational support is provided in internet offers of testing. Counselling may be offered as an additional special service at extra costs and at the customer's request. It may also be that a recommendation or at least an offer is given for the customer to contact a doctor or health practitioner from the company via phone for counselling.In a liberal society the fundamental individual rights can be considered to include access to medical treatment and diagnostics that may be helpful for improving one's health condition or that can help an individual make decisions regarding life style and health. At the European level, there are no binding legal regulations that specifically apply for genetic testing. In some European counties, national laws, require a responsible medical person to be involved before a genetic test is provided. The Convention on Human Rights and Biomedicine was adopted by the Committee of Ministers on 19 November 1996, while an Additional Protocol to the Convention, concerning Genetic Testing for Health Purposes, was adopted by the Committee of Ministers on 7 May 2008.Direct-to-consumer genetic testing is closely watched by the community of medical genetics and counsellors, and the EU funded Eurogentest Network of Excellence.In 2010, the European Society of Human Genetics has releaseda statement on direct-to-consumer gene testing for health-related purposes. The European Society of Human Genetics is concerned about the way in which commercial companies are

  7. [Large-scale population-based genetic screening and prenatal diagnosis for thalassemias in Zhuhai City of Guangdong Province].

    Science.gov (United States)

    Zhou, Yu-qiu; Shang, Xuan; Yin, Bao-min; Xiong, Fu; Xiao, Qi-zhi; Zhou, Wan-jun; Zhang, Yong-liang; Xu, Xiang-min

    2012-02-01

    To report the results of preventive control program of severe thalassemias in Zhuhai City of Guangdong Province from 1998 to 2010. As the guide centre of marriage and childbearing and the greatest maternity hospital in Zhuhai City of Guangdong Province, Zhuhai Municipal Maternity and Child Healthcare Hospital constructed the genetic screening network for thalassemias testing and referred for follow-up and for genetic counseling. The couples for premarital medical examination or regular healthcare examination in pregnancy were enrolled to this preventive control program. A conventional strategy of screening for heterozygote was used to identify the α- and β-thalassemia traits in women and their spouses according to the standard procedures of hematological phenotype analysis which was recommended by Thalassemia International Federation (TIF). Then those suspected couples at risk were diagnosed for α- and β-thalassemia by PCR-based DNA assays. The couples at risk for severe thalassemias were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus in the rights of consent and of option voluntarily. From January 1998 to December 2010, 85 522 brides and grooms-to-be for premarital screening and 41 503 pregnant women in addition to 14 141 partners for prenatal screening were recorded, the covering rates of premarital screening and prenatal screening in the city were 92.698% (from 1998 to 2003) and 27.667% (from 2004 to 2010), respectively. Totally 10 726 cases were found to be the carriers of thalassemias, with 7393 for α-thalassemia (5.237%, 7 393/141 166) and 3333 for β-thalassemia (2.361%, 3 333/141 166). A total of 257 couples at-risk for severe thalassemias were detected including 190 for α-thalassemia and 67 for β-thalassemia. Among them, 251 (97.7%, 251/257) couples were performed prenatal diagnosis. During the preventive control program, a total of 72 fetuses with severe thalassemias including hemoglobin H disease

  8. Effect of screening for cystic-fibrosis on the influence of genetic-counseling

    NARCIS (Netherlands)

    Dankert-Roelse, J E; te Meerman, G J; Knol, K; ten Kate, L P

    1987-01-01

    We studied the influence of genetic counseling for cystic fibrosis on family planning, using neonatal screening, family size at time of diagnosis, and maternal age as possible determinants for reproductive behaviour. The expected number of children born to mothers of equal age and parity in the same

  9. Neurological Condition of Infants Born After In Vitro Fertilization With Preimplantation Genetic Screening

    NARCIS (Netherlands)

    Middelburg, Karin J.; Heineman, Maas J.; Haadsma, Maaike L.; Bos, Arend F.; Kok, Joke H.; Hadders-Algra, Mijna

    2010-01-01

    Aim of this study was to evaluate the effect of preimplantation genetic screening (PGS) on neurodevelopmental outcome in children. We conducted a prospective follow-up Study of children born to women randomly assigned to in vitro fertilization with or without PGS. Primary outcome was adverse neurolo

  10. Screening of genetic parameters for soluble protein expression in Escherichia coli

    DEFF Research Database (Denmark)

    Vernet, Erik; Kotzsch, Alexander; Voldborg, Bjørn

    2011-01-01

    . Here we present a screening strategy for expression of biomedically relevant proteins in Escherichia coli using a panel of six different genetic variations. These include engineered strains for rare codon supplementation, increased disulfide bond formation in the cytoplasm and novel vectors...

  11. Acceptance of genetic testing in a general population

    DEFF Research Database (Denmark)

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

    1997-01-01

    The aim of the study was to analyze effects of age, education and gender on acceptance of genetic testing. Subjects, n = 1967 aged 15-69, were a stratified random sample of the Finnish population. One thousand, one hundred and sixty nine subjects, 530 men and 639 women, returned the questionnaire....... The majority of the respondents approved of the availability of genetic testing. Young, aged 15-24, were more favourable towards testing and more willing to undergo suggested tests, but they were also more worried than others about the misuse of test results. Men aged 45-69 with only basic education were more...... 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...

  12. Ethics, policy, and educational issues in genetic testing.

    Science.gov (United States)

    Williams, Janet K; Skirton, Heather; Masny, Agnes

    2006-01-01

    Analyze ethics, public policy, and education issues that arise in the United States (US) and the United Kingdom (UK) when genomic information acquired as a result of genetic testing is introduced into healthcare services. Priorities in the Ethical, Legal, and Social Issues Research Program include privacy, integration of genetic services into clinical health care, and educational preparation of the nursing workforce. These constructs are used to examine health policies in the US and UK, and professional interactions of individuals and families with healthcare providers. Individual, family, and societal goals may conflict with current healthcare practices and policies when genetic testing is done. Current health policies do not fully address these concerns. Unresolved issues include protection of privacy of individuals while considering genetic information needs of family members, determination of appropriate monitoring of genetic tests, addressing genetic healthcare discrepancies, and assuring appropriate nursing workforce preparation. Introduction of genetic testing into health care requires that providers are knowledgeable regarding ethical, policy, and practice issues in order to minimize risk for harm, protect the rights of individuals and families, and consider societal context in the management of genetic test results. Understanding of these issues is a component of genetic nursing competency that must be addressed at all levels of nursing education.

  13. 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 ...

  14. 美国的医学遗传检测%Medical genetic testing in the United States

    Institute of Scientific and Technical Information of China (English)

    Bin CHEN; Linda A. BRADLEY

    2006-01-01

    @@ Genetic tests for about 1 000 health conditions have been developed, of which more than 600 are currently available for clinical testing[1]. Many genetic tests identify DNA variants; others measure biochemical markers or analyze chromosomes. Most are used for diagnosis of rare single-gene disorders or chromosome abnormalities, and a few are used for newborn screening[2]. A growing number of genetic tests may have population-based applications. This includes determining the risk of developing a disease or condition in the future (e.g., predictive testing for breast cancer or cardiovascular disease), and recognizing genetic variations that can influence response to medicines (pharmacogenomics). These genetic tests, therefore, have the potential for broad public health impact.

  15. CRISPR-Cas9 for medical genetic screens: applications and future perspectives.

    Science.gov (United States)

    Xue, Hui-Ying; Ji, Li-Juan; Gao, Ai-Mei; Liu, Ping; He, Jing-Dong; Lu, Xiao-Jie

    2016-02-01

    CRISPR-Cas9 (clustered regularly interspaced short palindromic repeats-CRISPR associated nuclease 9) systems have emerged as versatile and convenient (epi)genome editing tools and have become an important player in medical genetic research. CRISPR-Cas9 and its variants such as catalytically inactivated Cas9 (dead Cas9, dCas9) and scaffold-incorporating single guide sgRNA (scRNA) have been applied in various genomic screen studies. CRISPR screens enable high-throughput interrogation of gene functions in health and diseases. Compared with conventional RNAi screens, CRISPR screens incur less off-target effects and are more versatile in that they can be used in multiple formats such as knockout, knockdown and activation screens, and can target coding and non-coding regions throughout the genome. This powerful screen platform holds the potential of revolutionising functional genomic studies in the near future. Herein, we introduce the mechanisms of (epi)genome editing mediated by CRISPR-Cas9 and its variants, introduce the procedures and applications of CRISPR screen in functional genomics, compare it with conventional screen tools and at last discuss current challenges and opportunities and propose future directions.

  16. Genetic Screening of Couples with Recurrent Spontaneous Abortion

    Directory of Open Access Journals (Sweden)

    M. Nail Alp

    2006-01-01

    Full Text Available The aim of this study was to determine the chromosomal abberations and their incidence in non-consanguineous couples with a history of two or more than two spontaneous abortion. In the study, we carried out cytogenetic analysis on 434 couples. Patients detected with chromosome abnormality were evaluated according to their pedigree analysis, and also patients’ relatives were screened for the same abnormality. Peripheral blood were taken from patients, then performed with lymphocyte culture and stained by binded using Giemsa-banding method. For each individual, 20-30-cells chromosomes were counted and around 5-10 well-binded metaphase chromosomes were karyotyped for numerical and structural chromosomal aberrations. Of 434 couples investigated, 30 (6.91% were found to have chromosomal abnormality, in one of couples partners. In 13 of couples (2.99%, one of partners was found to be balanced translocation carrier. Of these, 7 (1.61%were found to be reciprocal carrier, while 6 (1.38% Robertsonian-type balanced translocation carrier. Gonadal mosaicism was found in 3 couples (0.69%, pericentric 9 inversion in 8 couples (1.85 %, while 6 couples showed different chromosomal structure from each other. These chromosomal aberrations may cause of abortion due to high incidence in general population.

  17. Clinical genetic testing of periodic fever syndromes.

    Science.gov (United States)

    Marcuzzi, Annalisa; Piscianz, Elisa; Kleiner, Giulio; Tommasini, Alberto; Severini, Giovanni Maria; Monasta, Lorenzo; Crovella, Sergio

    2013-01-01

    Periodic fever syndromes (PFSs) are a wide group of autoinflammatory diseases. Due to some clinical overlap between different PFSs, differential diagnosis can be a difficult challenge. Nowadays, there are no universally agreed recommendations for most PFSs, and near half of patients may remain without a genetic diagnosis even after performing multiple-gene analyses. Molecular analysis of periodic fevers' causative genes can improve patient quality of life by providing early and accurate diagnosis and allowing the administration of appropriate treatment. In this paper we focus our discussion on effective usefulness of genetic diagnosis of PFSs. The aim of this paper is to establish how much can the diagnostic system improve, in order to increase the success of PFS diagnosis. The mayor expectation in the near future will be addressed to the so-called next generation sequencing approach. Although the application of bioinformatics to high-throughput genetic analysis could allow the identification of complex genotypes, the complexity of this definition will hardly result in a clear contribution for the physician. In our opinion, however, to obtain the best from this new development a rule should always be kept well in mind: use genetics only to answer specific clinical questions.

  18. Clinical Genetic Testing of Periodic Fever Syndromes

    Directory of Open Access Journals (Sweden)

    Annalisa Marcuzzi

    2013-01-01

    Full Text Available Periodic fever syndromes (PFSs are a wide group of autoinflammatory diseases. Due to some clinical overlap between different PFSs, differential diagnosis can be a difficult challenge. Nowadays, there are no universally agreed recommendations for most PFSs, and near half of patients may remain without a genetic diagnosis even after performing multiple-gene analyses. Molecular analysis of periodic fevers’ causative genes can improve patient quality of life by providing early and accurate diagnosis and allowing the administration of appropriate treatment. In this paper we focus our discussion on effective usefulness of genetic diagnosis of PFSs. The aim of this paper is to establish how much can the diagnostic system improve, in order to increase the success of PFS diagnosis. The mayor expectation in the near future will be addressed to the so-called next generation sequencing approach. Although the application of bioinformatics to high-throughput genetic analysis could allow the identification of complex genotypes, the complexity of this definition will hardly result in a clear contribution for the physician. In our opinion, however, to obtain the best from this new development a rule should always be kept well in mind: use genetics only to answer specific clinical questions.

  19. Genetic Testing for Huntington's Disease in Parkinsonism.

    Science.gov (United States)

    Rahman, M S; Nagai, Y; Popiel, H A; Fujikake, N; Okamoto, Y; Ahmed, M U; Islam, M A; Islam, M T; Ahmed, S; Rahman, K M; Uddin, M J; Dey, S K; Ahmed, Q; Hossain, M A; Jahan, N; Toda, T

    2010-10-01

    The study was conducted to find out Huntington's disease (HD) by genetic analysis from those presenting with parkinsonism in the Neurology department of Mymensingh Medical College & Hospital. A sample of about 5ml blood was collected by veni puncture in EDTA tube with informed consent from 9 patients & 7 healthy individuals after approval of the institutional ethics committee for genetic study. The neurological disorder along with a complete history and physical findings were recorded in a prescribed questionnaire by the neurologists of Mymensingh Medical College & Hospital. Extraction of genomic DNA from the venous blood using FlexiGene DNA kit (Qiagen, Japan) was performed in Faculty of Veterinary Science, Bangladesh Agricultural University, Mymensingh, Bangladesh. The extracted DNA was stored and accumulated and then these DNA were sent to Division of Clinical Genetics, Department of Medical Genetics, Osaka University Medical School, Suita, Osaka 565 0871, Japan for PCR and further analysis. PCR amplification of the CAG repeat in the 1T15 gene was performed with primers HD1 and HD3. HD PCR products revealed the DNA product of about 110bp (no. of CAG repeats=21) to 150bp (no. of CAG repeats=34) in both healthy individual and suspected PD patient DNA.

  20. Genetic Testing for Autism Spectrum Disorders

    Science.gov (United States)

    Bauer, Sarah C.; Msall, Michael E.

    2011-01-01

    Children with autism spectrum disorders (ASD) have unique developmental and behavioral phenotypes, and they have specific challenges with communication, social skills, and repetitive behaviors. At this time, no single etiology for ASD has been identified. However, evidence from family studies and linkage analyses suggests that genetic factors play…

  1. The wide variation of definitions of genetic testing in international recommendations, guidelines and reports.

    Science.gov (United States)

    Sequeiros, Jorge; Paneque, Milena; Guimarães, Bárbara; Rantanen, Elina; Javaher, Poupak; Nippert, Irma; Schmidtke, Jörg; Kääriäainen, Helena; Kristoffersson, Ulf; Cassiman, Jean-Jacques

    2012-04-01

    In spite of being very commonly used, the term genetic testing is debatable and used with several meanings. The diversity of existing definitions is confusing for scientists, clinicians and other professionals, health authorities, legislators and regulating agencies and the civil society in general, particularly when genetic testing is the object of guidelines or legal documents. This work compares definitions of genetic testing found in recommendations, guidelines and reports from international institutions, policy makers and professional organizations, but also in documents from other stakeholders in the field, as the pharmaceutical industry, insurers, ethics bodies, patient organizations or human-rights associations. A systematic review of these documents confirmed the extreme variability existing in the concepts and the ambiguous or equivocal use of the term. Some definitions (narrower) focus on methodologies or the material analysed, while others (broader) are information- or context-based. Its scope may range from being synonymous of just DNA analysis, to any test that yields genetic data. Genetic testing and genetic information, which may be derived from a range of medical exams or even family history, are often used interchangeably. Genetic testing and genetic screening are sometimes confused. Human molecular genetics (a discipline) is not always distinguished from molecular biology (a tool). Professional background, geographical context and purpose of the organizations may influence scope and usage. A common consensus definition does not exist. Nevertheless, a clear set of precise definitions may help creating a common language among geneticists and other health professionals. Moreover, a clear context-dependent, operative definition should always be given.

  2. Silver-Russell syndrome: genetic basis and molecular genetic testing

    Directory of Open Access Journals (Sweden)

    Binder Gerhard

    2010-06-01

    Full Text Available Abstract Imprinted genes with a parent-of-origin specific expression are involved in various aspects of growth that are rooted in the prenatal period. Therefore it is predictable that many of the so far known congenital imprinting disorders (IDs are clinically characterised by growth disturbances. A noteable imprinting disorder is Silver-Russell syndrome (SRS, a congenital disease characterised by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face, asymmetry and further less characteristic features. However, the clinical spectrum is broad and the clinical diagnosis often subjective. Genetic and epigenetic disturbances can meanwhile be detected in approximately 50% of patients with typical SRS features. Nearly one tenth of patients carry a maternal uniparental disomy of chromosome 7 (UPD(7mat, more than 38% show a hypomethylation in the imprinting control region 1 in 11p15. More than 1% of patients show (submicroscopic chromosomal aberrations. Interestingly, in ~7% of 11p15 hypomethylation carriers, demethylation of other imprinted loci can be detected. Clinically, these patients do not differ from those with isolated 11p15 hypomethylation whereas the UPD(7mat patients generally show a milder phenotype. However, an unambiguous (epigenotype-phenotype correlation can not be delineated. We therefore suggest a diagnostic algorithm focused on the 11p15 hypomethylation, UPD(7mat and cryptic chromosomal imbalances for patients with typical SRS phenotype, but also with milder clinical signs only reminiscent for the disease.

  3. Zagreb Amblyopia Preschool Screening Study: near and distance visual acuity testing increase the diagnostic accuracy of screening for amblyopia

    OpenAIRE

    Bušić, Mladen; Bjeloš, Mirjana; Petrovečki, Mladen; Kuzmanović Elabjer, Biljana; Bosnar, Damir; Ramić, Senad; Miletić, Daliborka; Andrijašević, Lidija; Kondža Krstonijević, Edita; Jakovljević, Vid; Bišćan Tvrdi, Ana; Predović, Jurica; Kokot, Antonio; Bišćan, Filip; Kovačević Ljubić, Mirna

    2016-01-01

    Aim To present and evaluate a new screening protocol for amblyopia in preschool children. Methods Zagreb Amblyopia Preschool Screening (ZAPS) study protocol performed screening for amblyopia by near and distance visual acuity (VA) testing of 15 648 children aged 48-54 months attending kindergartens in the City of Zagreb County between September 2011 and June 2014 using Lea Symbols in lines test. If VA in either eye was >0.1 logMAR, the child was re-tested, if failed at re-test, the child was ...

  4. Utilization of genetic testing among children with developmental disabilities in the United States

    Directory of Open Access Journals (Sweden)

    Kiely B

    2016-07-01

    .Conclusion: The majority of children in this nationally representative sample did not undergo recommended genetic testing. Research is needed to identify barriers to the use of genetic testing in this population. Keywords: autism spectrum disorders, intellectual disability, developmental delay, genetic screening

  5. Cultural Concerns when Counseling Orthodox Jewish Couples for Genetic Screening and PGD.

    Science.gov (United States)

    Grazi, Richard V; Wolowelsky, Joel B

    2015-12-01

    There is a spectrum of attitudes within the Orthodox Jewish community towards genetic testing and PGD. Increased understanding of the belief systems of the Orthodox Jewish population will enhance the genetic counselors' ability to better serve this unique group of patients. By improving cultural competence, genetic counselors can help patients choose the testing options that they deem appropriate, while simultaneously respecting the patient's belief system.

  6. 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.

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

    Science.gov (United States)

    Arnaboldi, Paola; Cutica, Ilaria; Fioretti, Chiara

    2016-01-01

    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. PMID:28105428

  8. 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

  9. 78 FR 13069 - Draft Guidance for Industry: Recommendations for Screening, Testing, and, Management of Blood...

    Science.gov (United States)

    2013-02-26

    ...The Food and Drug Administration (FDA) is announcing the availability of a draft document entitled ``Guidance for Industry: Recommendations for Screening, Testing, and Management of Blood Donors and Blood and Blood Components Based on Screening Tests for Syphilis,'' dated March 2013. The draft guidance document provides revised recommendations for screening and testing of donors and management......

  10. Risk of breast cancer after false-positive test results in screening mammography

    DEFF Research Database (Denmark)

    von Euler-Chelpin, My Catarina; Risør, Louise Madeleine; Thorsted, Brian Larsen

    2012-01-01

    Screening for disease in healthy people inevitably leads to some false-positive tests in disease-free individuals. Normally, women with false-positive screening tests for breast cancer are referred back to routine screening. However, the long-term outcome for women with false-positive tests is un...

  11. 42 CFR 410.37 - Colorectal cancer screening tests: Conditions for and limitations on coverage.

    Science.gov (United States)

    2010-10-01

    ... 42 Public Health 2 2010-10-01 2010-10-01 false Colorectal cancer screening tests: Conditions for...) BENEFITS Medical and Other Health Services § 410.37 Colorectal cancer screening tests: Conditions for and...) Colorectal cancer screening tests means any of the following procedures furnished to an individual for the...

  12. Genetic testing of the general population: ethical and informatic concerns.

    Science.gov (United States)

    Smith, K

    2000-01-01

    Whether we like it or not, genetic testing will almost certainly become routine medical practice within the next 25 years. Integrated circuit chips already exist that can perform 400 genetic tests simultaneously, thus greatly reducing the costs. At least one company is already working on a prototype for a handheld genetic tester that would allow primary care physicians to perform hundreds or thousands of genetic tests on a simple blood smear in just a few minutes. "Genetic report cards" for children are not very far off at all. The use of such widespread testing poses a variety of ethical dilemmas. One problem that has not been appreciated sufficiently, however, is the question of how to interpret the test results. Because of the ways the genes implicated in diseases are discovered and marketed, quantitative analysis of the tests can be extremely misleading. The difficulty is that we simply do not have sufficient information about variance in genetic and other factors in the general population to make accurate projections of a patient's risk, given the presence of a gene. This uncertainty is obscured, however, when we provide the patient with a numerical analysis of risk because it is well established that people tend to overestimate the information content of numerical projections. This situation is made far worse by the fact that we do not have enough adequately trained genetic counselors to handle the load that will soon be placed on them (and studies have shown that physicians are generally very poorly prepared to act as accurate sources of information on complex genetic issues). For these reasons, I argue that access to genetic testing should be treated the same way as access to new medical procedures and medications--namely, withheld from the general public until proven safe and effective in large-scale trials. This is certain to be an unpopular policy, but it seems the only way to prevent a great deal of abuse of genetic tests.

  13. Genetic counseling and testing for Huntington's disease: A historical review.

    Science.gov (United States)

    Nance, Martha A

    2017-01-01

    This manuscript describes the ways in which genetic counseling has evolved since John Pearson and Sheldon Reed first promoted "a genetic education" in the 1950s as a voluntary, non-directive clinical tool for permitting individual decision making. It reviews how the emergence of Huntington's disease (HD) registries and patient support organizations, genetic testing, and the discovery of a disease-causing CAG repeat expansion changed the contours of genetic counseling for families with HD. It also reviews the guidelines, outcomes, ethical and laboratory challenges, and uptake of predictive, prenatal, and preimplantation testing, and it casts a vision for how clinicians can better make use of genetic counseling to reach a broader pool of families that may be affected by HD and to ensure that genetic counseling is associated with the best levels of care. © 2016 Wiley Periodicals, Inc.

  14. Knowledge, Attitudes, and Practice Regarding Genetic Testing and Genetic Counselors in Jordan: A Population-Based Survey.

    Science.gov (United States)

    Ahram, Mamoun; Soubani, Majd; Abu Salem, Lana; Saker, Haneen; Ahmad, Muayyad

    2015-12-01

    Genetic testing has a potential in the prevention of genetic diseases, particularly in communities with high rates of consanguineous marriage. Therefore, knowledge, practice, and attitudes of the public in Jordan regarding genetic testing were investigated. Individuals (N = 3,196) were questioned about the concepts of genetic testing and genetic counselors, if they underwent any genetic tests, the type of test, the method of consenting to the test, as well as their level of satisfaction with the privacy of the genetic testing service. The likelihood of pursuing predictive genetic testing for cancer was also investigated. Although almost 70 % of respondents knew the term "genetic testing," only 18 % had undergone genetic testing, primarily the mandatory premarital test. In addition, there was a lack of general knowledge about genetic counselors. Many of those who had genetic testing (45 %) indicated they did not go through a consent process, and a lack of consent was significantly related to dissatisfaction with the privacy of the service. Approximately 55 % of respondents indicated they would potentially pursue predictive genetic testing for cancer. Going for routine health checkups was not significantly correlated with either actual or potential uptake of genetic testing, suggesting health care providers do not play an influential role in patients' testing decisions. Our results show a gap between the knowledge and uptake of genetic testing and may help to guide the design of effective strategies to initiate successful genetic counseling and testing services.

  15. Evaluating the zebrafish embryo toxicity test for pesticide hazard screening.

    Science.gov (United States)

    Glaberman, Scott; Padilla, Stephanie; Barron, Mace G

    2016-10-04

    Given the numerous chemicals used in society, it is critical to develop tools for accurate and efficient evaluation of potential risks to human and ecological receptors. Fish embryo acute toxicity tests are 1 tool that has been shown to be highly predictive of standard, more resource-intensive, juvenile fish acute toxicity tests. However, there is also evidence that fish embryos are less sensitive than juvenile fish for certain types of chemicals, including neurotoxicants. The utility of fish embryos for pesticide hazard assessment was investigated by comparing published zebrafish embryo toxicity data from pesticides with median lethal concentration 50% (LC50) data for juveniles of 3 commonly tested fish species: rainbow trout, bluegill sunfish, and sheepshead minnow. A poor, albeit significant, relationship (r(2 ) = 0.28; p zebrafish embryo and juvenile fish toxicity when pesticides were considered as a single group, but a much better relationship (r(2)  = 0.64; p pesticide mode of action was factored into an analysis of covariance. This discrepancy is partly explained by the large number of neurotoxic pesticides in the dataset, supporting previous findings that commonly used fish embryo toxicity test endpoints are particularly insensitive to neurotoxicants. These results indicate that it is still premature to replace juvenile fish toxicity tests with embryo-based tests such as the Organisation for Economic Co-operation and Development Fish Embryo Acute Toxicity Test for routine pesticide hazard assessment, although embryo testing could be used with other screening tools for testing prioritization. Environ Toxicol Chem 2016;9999:1-6. © 2016 SETAC.

  16. 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......, the extensive register of families with monogenic inherited eye diseases at the National Eye Clinic of the Kennedy Center in Denmark provides a valuable asset waiting to be exploited in the global effort to reduce blindness caused by genetic defects....

  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. Genetic Testing for Minors: Comparison between Italian and British Guidelines

    Directory of Open Access Journals (Sweden)

    Pamela Tozzo

    2012-01-01

    Full Text Available Genetic testing in children raises many important ethical, legal, and social issues. One of the main concerns is the ethically inappropriate genetic testing of minors. Various European countries established professional guidelines which reflect the different countries perspectives regarding the main ethical issues involved. In this paper, we analyze the Italian and the British guidelines by highlighting differences and similarities. We discuss presymptomatic, predictive, and carrier testing because we consider them to be the more ethically problematic types of genetic testing in minors. In our opinion, national guidelines should take into account the different needs in clinical practice. At the same time, in the case of genetic testing the national and supranational protection of minors could be strengthened by approving guidelines based on a common framework of principles and values. We suggest that the Oviedo Convention could represent an example of such a common framework or, at least, it could lead to articulate it.

  19. DTC genetic testing: pendulum swings and policy paradoxes.

    Science.gov (United States)

    Caulfield, T

    2012-01-01

    After decades of optimistic portrayals, there has been a shift in the way that the popular press represents genomic research. A skeptical view has become more common. The central reason for this pendulum swing away from popular support is the harsh truth that most genetic risk information just isn't that predictive. This reality has created a fascinating policy paradox. If, as many in the scientific community are now saying, genetic information is not the oracle of our future health as we were once led to believe, and if access does not, for most, cause harm, why regulate the area? Why worry about shoddy direct-to-consumer (DTC) genetic testing companies? One primary justification, and one endorsed by the recent Canadian College of Medical Geneticists (CCMG) Policy Statement on DTC Genetics Testing, is that information that is conveyed to the public about genetics via marketing and to those who access DTC tests should, at a minimum, be accurate.

  20. Automated, quantitative cognitive/behavioral screening of mice: for genetics, pharmacology, animal cognition and undergraduate instruction.

    Science.gov (United States)

    Gallistel, C R; Balci, Fuat; Freestone, David; Kheifets, Aaron; King, Adam

    2014-02-26

    We describe a high-throughput, high-volume, fully automated, live-in 24/7 behavioral testing system for assessing the effects of genetic and pharmacological manipulations on basic mechanisms of cognition and learning in mice. A standard polypropylene mouse housing tub is connected through an acrylic tube to a standard commercial mouse test box. The test box has 3 hoppers, 2 of which are connected to pellet feeders. All are internally illuminable with an LED and monitored for head entries by infrared (IR) beams. Mice live in the environment, which eliminates handling during screening. They obtain their food during two or more daily feeding periods by performing in operant (instrumental) and Pavlovian (classical) protocols, for which we have written protocol-control software and quasi-real-time data analysis and graphing software. The data analysis and graphing routines are written in a MATLAB-based language created to simplify greatly the analysis of large time-stamped behavioral and physiological event records and to preserve a full data trail from raw data through all intermediate analyses to the published graphs and statistics within a single data structure. The data-analysis code harvests the data several times a day and subjects it to statistical and graphical analyses, which are automatically stored in the "cloud" and on in-lab computers. Thus, the progress of individual mice is visualized and quantified daily. The data-analysis code talks to the protocol-control code, permitting the automated advance from protocol to protocol of individual subjects. The behavioral protocols implemented are matching, autoshaping, timed hopper-switching, risk assessment in timed hopper-switching, impulsivity measurement, and the circadian anticipation of food availability. Open-source protocol-control and data-analysis code makes the addition of new protocols simple. Eight test environments fit in a 48 in x 24 in x 78 in cabinet; two such cabinets (16 environments) may be

  1. Clopidogrel and genetic testing: is it necessary for everyone?

    Science.gov (United States)

    Goswami, Sweta; Cheng-Lai, Angela; Nawarskas, James

    2012-01-01

    Clopidogrel is a widely used antiplatelet agent to treat and prevent a variety of atherothrombotic diseases. More than a decade after its initial Food and Drug Administration approval, studies have emerged raising concerns regarding its possible reduced efficacy in patients who have impaired conversion of clopidogrel to its active metabolite (ie, poor metabolizers). Research has implicated genetic variations in the CYP2C19 isozyme as at least partly responsible for the variable antiplatelet response seen with clopidogrel. Studies have shown that patients possessing genetic variants of the CYP2C19 isozyme may be at increased risk of adverse cardiovascular events due to impaired clopidogrel efficacy, although this has not been definitively demonstrated. The Food and Drug Administration has issued a boxed warning regarding this concern. However, specific recommendations on genetic testing and alternative therapeutic strategies are not currently available. Genetic testing is commercially available to test patients for variability in the CYP2C19 isozyme, but altering antiplatelet therapy based on the results of this testing has not been adequately studied, and it is therefore not clear how to adjust therapy based on the results of this genetic testing. In addition, there are many other factors that may contribute to the variability in antiplatelet effect seen with clopidogrel besides CYP2C19 genetic polymorphisms. Ongoing trials dealing with adjusting antiplatelet therapy based on genetic testing will hopefully provide more useful information on how to appropriately integrate pharmacogenomics with the care of patients with atherothrombotic disease.

  2. Expert and Advocacy Group Consensus Findings on the Horizon of Public Health Genetic Testing

    Directory of Open Access Journals (Sweden)

    Stephen M. Modell

    2016-01-01

    Full Text Available Description: Among the two leading causes of death in the United States, each responsible for one in every four deaths, heart disease costs Americans $300 billion, while cancer costs Americans $216 billion per year. They also rank among the top three causes of death in Europe and Asia. In 2012 the University of Michigan Center for Public Health and Community Genomics and Genetic Alliance, with the support of the Centers for Disease Control and Prevention Office of Public Health Genomics, hosted a conference in Atlanta, Georgia to consider related action strategies based on public health genomics. The aim of the conference was consensus building on recommendations to implement genetic screening for three major heritable contributors to these mortality and cost figures: hereditary breast and ovarian cancer (HBOC, familial hypercholesterolemia (FH, and Lynch syndrome (LS. Genetic applications for these three conditions are labeled with a “Tier 1” designation by the U.S. Centers for Disease Control and Prevention because they have been fully validated and clinical practice guidelines based on systematic review support them. Methodology: The conference followed a deliberative sequence starting with nationally recognized clinical and public health presenters for each condition, followed by a Patient and Community Perspectives Panel, working group sessions for each of the conditions, and a final plenary session. The 74 conference participants represented disease research and advocacy, public health, medicine and nursing, genetics, governmental health agencies, and industry. Participants drew on a public health framework interconnecting policy, clinical intervention, surveillance, and educational functions for their deliberations. Results: Participants emphasized the importance of collaboration between clinical, public health, and advocacy groups in implementing Tier 1 genetic screening. Advocacy groups could help with individual and institutional

  3. Genetic Testing for Huntington's Disease: How Is the Decision Taken?

    Science.gov (United States)

    Etchegary, Holly

    2006-01-01

    Research on genetic decision-making normally constructs the decision as an opportunity for choice. However, minimal research investigates how these decisions are taken and whether those who live with genetic risk perceive the test as an opportunity for choice. Employing semistructured interviews with at-risk persons, this study explored decisions about genetic testing for Huntington's disease (HD)--a fatal genetic disorder. A primary aim was to understand how test decisions were perceived. Qualitative data analysis revealed four decision pathways: (1) no decision to be made, (2) constrained decisions, (3) reevaluating the decision, and (4) indicators of HD. Contrary to the rational, "information-processor" approach to decision making, some test decisions were immediate and automatic. These stories challenged the conventional construction of a genetic-test decision as an opportunity for choice. Participant narratives suggested that this construction may be inadequate, at least for some people who live with genetic risk. Test decisions were sometimes constrained by perceived responsibility to other family members, notably offspring. For others at risk, the test decision was a dynamic process of critical thought and evaluation. Finally, behaviors that could be symptoms of HD were the catalyst for testing.

  4. 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 families...

  5. Raising Awareness of Pre-Symptomatic Genetic Testing

    Science.gov (United States)

    Boerwinkel, Dirk Jan; Knippels, Marie-Christine; Waarlo, Arend Jan

    2011-01-01

    Presymptomatic genetic testing generates socioscientific issues in which decision making is complicated by several complexity factors. These factors include weighing of advantages and disadvantages, different interests of stakeholders, uncertainty of genetic information and conflicting values. Education preparing students for future decision…

  6. A post-developmental genetic screen for zebrafish models of inherited liver disease.

    Directory of Open Access Journals (Sweden)

    Seok-Hyung Kim

    Full Text Available Nonalcoholic fatty liver disease (NAFLD is one of the most common causes of chronic liver disease such as simple steatosis, nonalcoholic steatohepatitis (NASH, cirrhosis and fibrosis. However, the molecular pathogenesis and genetic variations causing NAFLD are poorly understood. The high prevalence and incidence of NAFLD suggests that genetic variations on a large number of genes might be involved in NAFLD. To identify genetic variants causing inherited liver disease, we used zebrafish as a model system for a large-scale mutant screen, and adopted a whole genome sequencing approach for rapid identification of mutated genes found in our screen. Here, we report on a forward genetic screen of ENU mutagenized zebrafish. From 250 F2 lines of ENU mutagenized zebrafish during post-developmental stages (5 to 8 days post fertilization, we identified 19 unique mutant zebrafish lines displaying visual evidence of hepatomegaly and/or steatosis with no developmental defects. Histological analysis of mutants revealed several specific phenotypes, including common steatosis, micro/macrovesicular steatosis, hepatomegaly, ballooning, and acute hepatocellular necrosis. This work has identified multiple post-developmental mutants and establishes zebrafish as a novel animal model for post-developmental inherited liver disease.

  7. A post-developmental genetic screen for zebrafish models of inherited liver disease.

    Science.gov (United States)

    Kim, Seok-Hyung; Wu, Shu-Yu; Baek, Jeong-In; Choi, Soo Young; Su, Yanhui; Flynn, Charles R; Gamse, Joshua T; Ess, Kevin C; Hardiman, Gary; Lipschutz, Joshua H; Abumrad, Naji N; Rockey, Don C

    2015-01-01

    Nonalcoholic fatty liver disease (NAFLD) is one of the most common causes of chronic liver disease such as simple steatosis, nonalcoholic steatohepatitis (NASH), cirrhosis and fibrosis. However, the molecular pathogenesis and genetic variations causing NAFLD are poorly understood. The high prevalence and incidence of NAFLD suggests that genetic variations on a large number of genes might be involved in NAFLD. To identify genetic variants causing inherited liver disease, we used zebrafish as a model system for a large-scale mutant screen, and adopted a whole genome sequencing approach for rapid identification of mutated genes found in our screen. Here, we report on a forward genetic screen of ENU mutagenized zebrafish. From 250 F2 lines of ENU mutagenized zebrafish during post-developmental stages (5 to 8 days post fertilization), we identified 19 unique mutant zebrafish lines displaying visual evidence of hepatomegaly and/or steatosis with no developmental defects. Histological analysis of mutants revealed several specific phenotypes, including common steatosis, micro/macrovesicular steatosis, hepatomegaly, ballooning, and acute hepatocellular necrosis. This work has identified multiple post-developmental mutants and establishes zebrafish as a novel animal model for post-developmental inherited liver disease.

  8. Frequency of chromosomal aneuploidy in high quality embryos from young couples using preimplantation genetic screening

    Directory of Open Access Journals (Sweden)

    Farzaneh Fesahat

    2017-09-01

    Full Text Available Background: Selection of the best embryo for transfer is very important in assisted reproductive technology (ART. Using morphological assessment for this selection demonstrated that the correlation between embryo morphology and implantation potential is relatively weak. On the other hand, aneuploidy is a key genetic factor that can influence human reproductive success in ART. Objective: The aim of this lab trial study was to evaluate the incidence of aneuploidies in five chromosomes in the morphologically high-quality embryos from young patients undergoing ART for sex selection. Materials and Methods: A total of 97 high quality embryos from 23 women at the age of 37or younger years that had previously undergone preimplantation genetic screening for sex selection were included in this study. After washing, the slides of blastomeres from embryos of patients were reanalyzed by fluorescence in-situ hybridization for chromosomes 13, 18 and 21. Results: There was a significant rate of aneuploidy determination in the embryos using preimplantation genetic screening for both sex and three evaluated autosomal chromosomes compared to preimplantation genetic screening for only sex chromosomes (62.9% vs. 24.7%, p=0.000. The most frequent detected chromosomal aneuploidy was trisomy or monosomy of chromosome 13. Conclusion: There is considerable numbers of chromosomal abnormalities in embryos generated in vitro which cause in vitro fertilization failure and it seems that morphological characterization of embryos is not a suitable method for choosing the embryos without these abnormalities

  9. Review of short-term screening tests for mutagens, toxigens, and carcinogens

    Energy Technology Data Exchange (ETDEWEB)

    Carney, H.J.; Hass, B.S.

    1979-07-01

    In order to test the thousands of man-made chemicals in the environment for carcinogenic and genetic hazards, a multitude of short-term screening tests has been developed to complement long-term mammalian bioassays and epidemiological studies. These tests cover a broad spectrum of organisms, and include the use of naked and viral nucleic acids, bacteria, fungi, higher plants, insects in vitro mammalian cell cultures (cell transformation, cell-mediated mutagenesis, DNA repair, and chromosome aberration tests) and live mammals. Assay end points include effects on nucleic acids, DNA repair synthesis, point or gene mutation, structural and numerical chromosome aberrations, cytological alterations, and in vitro cell transformation. The present review describes and compares these assays. In addition, it discusses their historical development, the problems and limitations associated with their use, and their implementation in comprehensive testing programs. It is intended to provide overview and specific information to the laboratory that is in the process of establishing genetic toxicological systems. (The literature is reviewed to January 1978.)

  10. SYBR® Green qPCR Screening Methods for Detection of Anti-herbicide Genes in Genetically Modiifed Processed Products

    Institute of Scientific and Technical Information of China (English)

    Zhen Zhen; Lv Wei; Tang Zhi-fen; Liu Ying; Ao Jin-xia; Yuan Xiao-han; Zhang Ming-hui; Qiu You-wen; Gao Xue-jun

    2016-01-01

    The use of genetically modified organisms (GMOs) as food products becomes more and more widespread. The European Union has implemented a set of very strict procedures for the approval to grow, import and/or utilize GMOs as food or food ingredients. Thus, analytical methods for detection of GMOs are necessary in order to verify compliance with labelling requirements. There are few effective screening methods for processed GM (genetically modified) products. Three anti-herbicide genes (CP4-EPSPS,BAR andPAT) are common exogenous genes used in commercialized transgenic soybean, maize and rice. In the present study, a new SYBR® Green qPCR screening method was developed to simultaneously detect the three exogenous anti-herbicide genes and one endogenous gene in a run. We tested seven samples of representative processed products (soya lecithin, soya protein powder, chocolate beverage, infant rice cereal, maize protein powder, maize starch, and maize jam) using the developed method, and amplicons of endogenous gene and transgenic fragments were obtained from all the processed products, and the sensitivity was 0.1%. These results indicated that SYBR® Green qPCR screening method was appropriate for qualitative detection of transgenic soybean, maize and rice in processed products.

  11. Zagreb Amblyopia Preschool Screening Study: near and distance visual acuity testing increase the diagnostic accuracy of screening for amblyopia.

    Science.gov (United States)

    Bušić, Mladen; Bjeloš, Mirjana; Petrovečki, Mladen; Kuzmanović Elabjer, Biljana; Bosnar, Damir; Ramić, Senad; Miletić, Daliborka; Andrijašević, Lidija; Kondža Krstonijević, Edita; Jakovljević, Vid; Bišćan Tvrdi, Ana; Predović, Jurica; Kokot, Antonio; Bišćan, Filip; Kovačević Ljubić, Mirna; Motušić Aras, Ranka

    2016-02-01

    To present and evaluate a new screening protocol for amblyopia in preschool children. Zagreb Amblyopia Preschool Screening (ZAPS) study protocol performed screening for amblyopia by near and distance visual acuity (VA) testing of 15 648 children aged 48-54 months attending kindergartens in the City of Zagreb County between September 2011 and June 2014 using Lea Symbols in lines test. If VA in either eye was >0.1 logMAR, the child was re-tested, if failed at re-test, the child was referred to comprehensive eye examination at the Eye Clinic. 78.04% of children passed the screening test. Estimated prevalence of amblyopia was 8.08%. Testability, sensitivity, and specificity of the ZAPS study protocol were 99.19%, 100.00%, and 96.68% respectively. The ZAPS study used the most discriminative VA test with optotypes in line as they do not underestimate amblyopia. The estimated prevalence of amblyopia was considerably higher than reported elsewhere. To the best of our knowledge, the ZAPS study protocol reached the highest sensitivity and specificity when evaluating diagnostic accuracy of VA tests for screening. The pass level defined at ≤0.1 logMAR for 4-year-old children, using Lea Symbols in lines missed no amblyopia cases, advocating that both near and distance VA testing should be performed when screening for amblyopia.

  12. Improved genetic testing: a new impetus toward universal coverage.

    Science.gov (United States)

    Sureka, A

    2000-01-01

    As the Human Genome Project increases the predictive power of human genetics, emerging gene chip technology and other advances of genetic testing will give more information to people about their genetic predilections. If insurance companies were allowed to use this information, they would set premiums such that many who need life-saving medical treatment would have no access to it. Americans would not accept this disparity; instead, genetic information will likely remain private, making the modern health insurance system unprofitable for companies and thus pushing the United States towards a universal health care system in the near future.

  13. Predictive genetic testing for cardiovascular diseases: impact on carrier children.

    Science.gov (United States)

    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

    2008-12-15

    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 their carrier status, (b) impact on their daily lives, and (c) strategy used to cope with these consequences. Children (aged 8-18) who tested positive for LQTS (n=11), HCM (n=6) or FH (n=16), and their parents participated in semi-structured audiotaped interviews. Interview topics included illness perception, use of medication, lifestyle modifications, worries, and coping. Each interview was coded by two researchers. The qualitative analysis was guided by Leventhal's model of self-regulation. The children were overall quite articulate about the disease they were tested for, including its mode of inheritance. They expressed positive future health perceptions, but feelings of controllability varied. Adherence and side-effects were significant themes with regard to medication-use. Refraining from activities and maintaining a non-fat diet were themes concerning lifestyle modifications. Some children spontaneously reported worries about the possibility of dying and frustration about being different from peers. Children coped with these worries by expressing faith in the effectiveness of medication, trying to be similar to peers or, in contrast, emphasizing their "being different." Children generally appeared effective in the way they coped with their carrier status and its implications. Nevertheless, dealing with the daily implications of their condition remains difficult in some situations, warranting continued availability of psychosocial support.

  14. Can the external masculinization score predict the success of genetic testing in 46,XY DSD?

    Directory of Open Access Journals (Sweden)

    Ruthie Su

    2015-05-01

    Full Text Available Genetic testing is judiciously applied to individuals with Disorders of Sex Development (DSD and so it is necessary to identify those most likely to benefit from such testing. We hypothesized that the external masculinization score (EMS is inversely associated with the likelihood of finding a pathogenic genetic variant. Patients with 46,XY DSD from a single institution evaluated from 1994-2014 were included. Results of advanced cytogenetic and gene sequencing tests were recorded. An EMS score (range 0-12 was assigned to each patient according to the team's initial external genitalia physical examination. During 1994-2011, 44 (40% patients with 46,XY DSD were evaluated and underwent genetic testing beyond initial karyotype; 23% (10/44 had a genetic diagnosis made by gene sequencing or array. The median EMS score of those with an identified pathogenic variant was significantly different from those in whom no confirmed genetic cause was identified [median 3 (95% CI, 2-6 versus 6 (95% CI, 5-7, respectively (p = 0.02], but limited to diagnoses of complete or partial androgen insensitivity (8/10 or 5-reductase deficiency (2/10. In the modern cohort (2012-2014, the difference in median EMS in whom a genetic cause was or was not identified approached significance (p = 0.05, median 3 (95% CI, 0-7 versus 7 (95% CI, 6-9, respectively. When all patients from 1994-2014 are pooled, the EMS is significantly different amongst those with compared to those without a genetic cause (median EMS 3 vs. 6, p < 0.02. We conclude that an EMS of 3 or less may indicate a higher likelihood of identifying a genetic cause of 46,XY DSD and justify genetic screening, especially when androgen insensitivity is suspected.

  15. Genome-wide screening for genetic loci associated with noise-induced hearing loss.

    Science.gov (United States)

    White, Cory H; Ohmen, Jeffrey D; Sheth, Sonal; Zebboudj, Amina F; McHugh, Richard K; Hoffman, Larry F; Lusis, Aldons J; Davis, Richard C; Friedman, Rick A

    2009-04-01

    Noise-induced hearing loss (NIHL) is one of the more common sources of environmentally induced hearing loss in adults. In a mouse model, Castaneous (CAST/Ei) is an inbred strain that is resistant to NIHL, while the C57BL/6J strain is susceptible. We have used the genome-tagged mice (GTM) library of congenic strains, carrying defined segments of the CAST/Ei genome introgressed onto the C57BL/6J background, to search for loci modifying the noise-induced damage seen in the C57BL/6J strain. NIHL was induced by exposing 6-8-week old mice to 108 dB SPL intensity noise. We tested the hearing of each mouse strain up to 23 days after noise exposure using auditory brainstem response (ABR). This study identifies a number of genetic loci that modify the initial response to damaging noise, as well as long-term recovery. The data suggest that multiple alleles within the CAST/Ei genome modify the pathogenesis of NIHL and that screening congenic libraries for loci that underlie traits of interest can be easily carried out in a high-throughput fashion.

  16. [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.

  17. [Present condition and problem of presymptomatic genetic testing].

    Science.gov (United States)

    Kukinaka, Chieko

    2013-01-01

    For neuromuscular disease the best diagnosis is by genetic testing. Genetic testing is very important, however, the influence which a positive result can have on a family is very considerable. It can affect the family's lifestyle a lot. For example presymptomatic and prenatal genetic testing may be necessary for the family's children when they become adults themselves. We did qualitative research with five people who received presymptomatic genetic testing because of a family member with familial amyloidic polyneropathy. Heredity problems had a big influence on their life and on family dynamics. In order to support hereditary disease patients and their families, it is important to make a system which all medical institutions can use to help them cooperate together and deal with the treatment of hereditary diseases.

  18. Participation in Genetic Testing Research Varies by Social Group

    National Research Council Canada - National Science Library

    Hensley Alford, Sharon; McBride, Colleen M; Reid, Robert J; Larson, Eric B; Baxevanis, Andreas D; Brody, Lawrence C

    2011-01-01

    ...: Our primary aim was to evaluate, using a population-based sample of healthy adults, whether gender, race and education status influences interest and participation in a multiplex genetic susceptibility test. Methods...

  19. A systematic review of perceived risks, psychological and behavioral impacts of genetic testing.

    Science.gov (United States)

    Heshka, Jodi T; Palleschi, Crystal; Howley, Heather; Wilson, Brenda; Wells, Philip S

    2008-01-01

    Genetic testing may enable early disease detection, targeted surveillance, and result in effective prevention strategies. Knowledge of genetic risk may also enable behavioral change. However, the impact of carrier status from the psychological, behavior, and perceived risk perspectives is not well understood. We conducted a systematic review to summarize the available literature on these elements. An extensive literature review was performed to identify studies that measured the perceived risk, psychological, and/or behavioral impacts of genetic testing on individuals. The search was not limited to specific diseases but excluded the impacts of testing for single gene disorders. A total of 35 articles and 30 studies were included. The studies evaluated hereditary nonpolyposis colorectal carcinoma, hereditary breast and ovarian cancer, and Alzheimer disease. For affective outcomes, the majority of the studies reported negative effects on carriers but these were short-lived. For behavioral outcomes, an increase in screening behavior of varying rates was demonstrated in carriers but the change in behaviors was less than expected. With respect to perceived risk, there were generally no differences between carriers and noncarriers by 12 months after genetic testing and over time risk perception decreased. Overall, predispositional genetic testing has no significant impact on psychological outcomes, little effect on behavior, and did not change perceived risk. It seems as though better patient education strategies are required. Our data would suggest better knowledge among carriers would not have significant psychological impacts and therefore, it is worth pursuing improved educational strategies.

  20. Maine Coon renal screening: ultrasonographical characterisation and preliminary genetic analysis for common genes in cats with renal cysts.

    Science.gov (United States)

    Gendron, Karine; Owczarek-Lipska, Marta; Lang, Johann; Leeb, Tosso

    2013-12-01

    The objective of this study was to assess the prevalence of renal cysts and other renal abnormalities in purebred Maine Coon cats, and to characterise these through genetic typing. Voluntary pre-breeding screening programmes for polycystic kidney disease (PKD) are offered for this breed throughout Switzerland, Germany and other northern European countries. We performed a retrospective evaluation of Maine Coon screening for renal disease at one institution over an 8-year period. Renal ultrasonography was performed in 187 healthy Maine Coon cats. Renal changes were observed in 27 of these cats. Renal cysts were found in seven cats, and were mostly single and unilateral (6/7, 85.7%), small (mean 3.6 mm) and located at the corticomedullary junction (4/6, 66.7%). Sonographical changes indicating chronic kidney disease (CKD) were observed in 10/187 (5.3%) cats and changes of unknown significance were documented in 11/187 (5.9%) cats. All six cats genetically tested for PKD1 were negative for the mutation, and gene sequencing of these cats did not demonstrate any common genetic sequences. Cystic renal disease occurs with a low prevalence in Maine Coons and is unrelated to the PKD observed in Persians and related breeds. Ultrasonographical findings compatible with CKD are not uncommon in juvenile Maine Coons.

  1. Chloe's Law: A Powerful Legislative Movement Challenging a Core Ethical Norm of Genetic Testing.

    Science.gov (United States)

    Caplan, Arthur L

    2015-08-01

    Since the early 1970s, the ethical norm governing counselors involved in testing and screening for genetic conditions related to reproduction has been strict neutrality. Counseling about reproductive genetics was to be patient centered but nondirective. Many advocates for people with Down syndrome believe that high abortion rates following a diagnosis of this condition show an unfounded bias against those with Down syndrome. These advocates have succeeded in enacting federal and state legislation that requires women who receive a prenatal diagnosis of Down syndrome to receive positive information about the condition, thereby ending the nominal goal of value-neutral counseling and setting the stage for further normative shifts in clinical reproductive genetics as counseling expands because of cell-free testing.

  2. Twin-twin transfusion syndrome: neurodevelopmental screening test

    Directory of Open Access Journals (Sweden)

    Amabile Vessoni Arias

    2015-03-01

    Full Text Available Objective To assess the neurodevelopmental functions (cognition, language and motor function of survivors of twin-twin transfusion syndrome (TTTS. Method Observational cross-sectional study of a total of 67 monochorionic diamniotic twins who underwent fetoscopic laser coagulation (FLC for treatment of TTTS. The study was conducted at the Center for Investigation in Pediatrics (CIPED, Universidade Estadual de Campinas. Ages ranged from one month and four days to two years four months. Bayley Scales of Infant and Toddler Development Screening Test-III, were used for evaluation. Results Most children reached the competent category and were classified as having appropriate performance. The preterm children scored worse than term infants for gross motor subtest (p = 0.036. Conclusion The majority of children reached the expected development according to their age. Despite the good neurodevelopment, children classified at risk should be monitored for development throughout childhood.

  3. 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.

  4. Genetic Testing for Rare Cancer: The Wider Issues.

    Science.gov (United States)

    Jacobs, Chris; Pichert, Gabriella

    2016-01-01

    Identification of a potential genetic susceptibility to cancer and confirmation of a pathogenic gene mutation raises a number of challenging issues for the patient with cancer, their relatives and the health professionals caring for them. The specific risks and management issues associated with rare cancer types have been addressed in the earlier chapters. This chapter considers the wider issues involved in genetic counselling and genetic testing for a genetic susceptibility to cancer for patients, families and health professionals. The first part of the chapter will present the issues raised by the current practice in genetic counselling and genetic testing for cancer susceptibility. The second part of the chapter will address some of the issues raised by the advances in genetic testing technology and the future opportunities provided by personalised medicine and targeted cancer therapy. Facilitating these developments requires closer integration of genomics into mainstream cancer care, challenging the existing paradigm of genetic medicine, adding additional layers of complexity to the risk assessment and management of cancer and presenting wider issues for patients, families, health professionals and clinical services.

  5. The Short Anxiety Screening Test in Greek: translation and validation

    Directory of Open Access Journals (Sweden)

    Antonopoulou Maria

    2010-01-01

    Full Text Available Abstract Background The aim of the current study was to assess the reliability and validity of the Greek translation of the Short Anxiety Screening Test (SAST, for use in primary care settings. The scale consists of 10 items and is a brief clinician rating scale for the detection of anxiety disorder in older people, particularly, in the presence of depression. Methods The study was performed in two rural primary care settings in Crete. The sample consisted of 99 older (76 ± 6.3 years old people, who fulfilled the participating criteria. The translation and cultural adaptation of the questionnaire was performed according to international standards. Internal consistency using the Cronbach α coefficient and test-retest reliability using the intraclass correlation coefficient (ICC was used to assess the reliability of the tool. An exploratory factor analysis using Varimax with Kaiser normalisation (rotation method was used to examine the structure of the instrument, and for the correlation of the items interitem correlation matrix was applied and assessed with Cronbach α. Results Translation and backtranslation did not reveal any specific problems. The psychometric properties of the Greek version of the SAST scale in primary care were good. Internal consistency of the instrument was good, the Cronbach α was found to be 0.763 (P 1.0 accounting for 60% of variance, while the Cronbach α was >0.7 for every item. Conclusions The Greek translation of the SAST questionnaire is comparable with that of the original version in terms of reliability, and can be used in primary healthcare research. Its use in clinical practice should be primarily as a screening tool only at this stage, with a follow-up consisting of a detailed interview with the patient, in order to confirm the diagnosis.

  6. Predicting the risk of a false-positive test for women following a mammography screening programme

    DEFF Research Database (Denmark)

    Njor, Sisse Helle; Olsen, Anne Helene; Schwartz, Walter

    2007-01-01

    OBJECTIVES: The objectives of this study was to provide a simple estimate of the cumulative risk of a false-positive test for women participating in mammography screening. To test the method, we used data from two well-established, organized mammography screening programmes offering biennial...... be calculated in a simple way relatively early after the start of a mammography screening programme....

  7. Prognostic Factors for Distress After Genetic Testing for Hereditary Cancer.

    Science.gov (United States)

    Voorwinden, Jan S; Jaspers, Jan P C

    2016-06-01

    The psychological impact of an unfavorable genetic test result for counselees at risk for hereditary cancer seems to be limited: only 10-20 % of counselees have psychological problems after testing positive for a known familial mutation. The objective of this study was to find prognostic factors that can predict which counselees are most likely to develop psychological problems after presymptomatic genetic testing. Counselees with a 50 % risk of BRCA1/2 or Lynch syndrome completed questionnaires at three time-points: after receiving a written invitation for a genetic counseling intake (T1), 2-3 days after receiving their DNA test result (T2), and 4-6 weeks later (T3). The psychological impact of the genetic test result was examined shortly and 4-6 weeks after learning their test result. Subsequently, the influence of various potentially prognostic factors on psychological impact were examined in the whole group. Data from 165 counselees were analyzed. Counselees with an unfavorable outcome did not have more emotional distress, but showed significantly more cancer worries 4-6 weeks after learning their test result. Prognostic factors for cancer worries after genetic testing were pre-existing cancer worries, being single, a high risk perception of getting cancer, and an unfavorable test result. Emotional distress was best predicted by pre-existing cancer worries and pre-existing emotional distress. The psychological impact of an unfavorable genetic test result appears considerable if it is measured as "worries about cancer." Genetic counselors should provide additional guidance to counselees with many cancer worries, emotional distress, a high risk perception or a weak social network.

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

    Science.gov (United States)

    Spoonamore, Katherine G; Ware, Stephanie M

    2016-03-01

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

  9. Screening tests for intended medication adherence among the elderly.

    Science.gov (United States)

    Raehl, Cynthia L; Bond, C A; Woods, Tresa J; Patry, Roland A; Sleeper, Rebecca B

    2006-05-01

    Medication nonadherence is increasingly recognized as a cause of preventable adverse events, hospitalizations, and poor healthcare outcomes. While comprehensive medication adherence assessment for the elderly is likely to identify and prevent drug-related problems, it is time consuming for patient and healthcare providers alike. To identify screening tools to predict elderly patients' intended medication adherence that are suitable for primary-care settings and community pharmacies. This study evaluated 57 English-speaking persons aged 65 years and older who were from diverse socioeconomic backgrounds. Intended adherence was quantified, and the relationships to demographic, medical history, socioeconomic, and literacy variables were determined. In a multivariate analysis with the composite MedTake Test (a quantitative measure of each subject's intent to adhere to prescribed oral medications) as the dependent variable, independent predictors of intended adherence included: age, car ownership in the last 10 years, receipt of food assistance in the last 10 years, number of over-the-counter (OTC) medicines, and REALM (Rapid Estimate of Adult Literacy in Medicine). The strongest predictor was the REALM word-recognition pronunciation test (beta = 0.666; R2 = 0.271; p pronunciation test, along with age, number of OTC drugs, and 2 socioeconomic questions, predicted the intent of seniors to correctly take their own prescribed oral medications.

  10. A comparison of standard acute toxicity tests with rapid-screening toxicity tests

    Energy Technology Data Exchange (ETDEWEB)

    Toussaint, M.W. [Geo-Centers, Inc., Fort Washington, MD (United States); Shedd, T.R. [Army Biomedical Research and Development Lab., Frederick, MD (United States); Schalie, W.H. van der [Environmental Protection Agency, Washington, DC (United States); Leather, G.R. [Hood Coll., Frederick, MD (United States). Dept. of Biology

    1995-05-01

    This study compared the relative sensitivity of five inexpensive, rapid toxicity tests to the sensitivity of five standard aquatic acute toxicity tests through literature review and testing. The rapid toxicity tests utilized organisms that require little culturing or handling prior to testing: a freshwater rotifer (Branchionus calyciflorus); brine shrimp (Artemia salina); lettuce (Lactuca sativa); and two microbial tests (Photobacterium phosphoreum--Microtox{reg_sign} test, and a mixture of bacterial species--the Polytox{reg_sign} test). Standard acute toxicity test species included water fleas (Daphnia magna and Ceriodaphnia dubia), green algae (Selenastrum capricornutum), fathead minnows (Pimephales promelas), and mysid shrimp (Mysidopsis bahia). Sensitivity comparisons between rapid and standard acute toxicity tests were based on LC50/EC50 data from 11 test chemicals. Individually, the lettuce and rotifer tests ranked most similar in sensitivity to the standard tests, while Microtox fell just outside the range of sensitivities represented by the group of standard acute toxicity tests. The brine shrimp and Polytox tests were one or more orders of magnitude different from the standard acute toxicity tests for most compounds. The lettuce, rotifer, and Microtox tests could be used as a battery for preliminary toxicity screening of chemicals. Further evaluation of complex real-world environmental samples is recommended.

  11. Comparison of standard acute toxicity tests with rapid-screening toxicity tests

    Energy Technology Data Exchange (ETDEWEB)

    Toussaint, M.W.; Shedd, T.R.; VanDerSchal, W.H.; Leather, G.R.

    1995-10-01

    This study compared the relative sensitivity of five inexpensive, rapid toxicity tests to the sensitivity of five standard aquatic acute toxicity tests through literature review and testing. The rapid toxicity tests utilized organisms that require little culturing or handling prior to testing: a freshwater rotifer (Branchionus ccalyciflorus); brine shrimp (Artemia salina); lettuce (Lactuca sativa); and two microbial tests (Photo bacterium phosphoreum - Microtox test, and a mixture of bacterial species - the polytox test). Standard acute toxicity test species included water fleas (Daphnia magna and Ceriadaphnta dubia), green algae (Setenastrum capricarnutum), fathead minnows (Pimephalespromelas), and mysid shrimp (Mysidopsis bahia). Sensitivity comparisons between rapid and standard acute toxicity tests were based on LC5O/EC50 data from 11 test chemicals. Individually, the lettuce and rotifer tests ranked most similar in sensitivity to the standard tests, while Microtox fell just outside the range of sensitivities represented by the group of standard acute toxicity tests. The brine shrimp and Polytox tests were one or more orders of magnitude different from the standard acute toxicity tests for most compounds. The lettuce, rotifer, and Microtox tests could be used as a battery for preliminary toxicity screening of chemicals. Further evaluation of complex real-world environmental samples is recommended.

  12. Letter Report: LAW Simulant Development for Cast Stone Screening Test

    Energy Technology Data Exchange (ETDEWEB)

    Russell, Renee L.; Westsik, Joseph H.; Swanberg, David J.; Eibling, Russell E.; Cozzi, Alex; Lindberg, Michael J.; Josephson, Gary B.; Rinehart, Donald E.

    2013-03-27

    testing program was developed in fiscal year (FY) 2012 describing in some detail the work needed to develop and qualify Cast Stone as a waste form for the solidification of Hanford LAW (Westsik et al. 2012). Included within Westsik et al. (2012) is a section on the near-term needs to address Tri-Party Agreement Milestone M-062-40ZZ. The objectives of the testing program to be conducted in FY 2013 and FY 2014 are to: • Determine an acceptable formulation for the LAW Cast Stone waste form. • Evaluate sources of dry materials for preparing the LAW Cast Stone. • Demonstrate the robustness of the Cast Stone waste form for a range of LAW compositions. • Demonstrate the robustness of the formulation for variability in the Cast Stone process. • Provide Cast Stone contaminant release data for PA and risk assessment evaluations. The first step in determining an acceptable formulation for the LAW Cast Stone waste form is to conduct screening tests to examine expected ranges in pretreated LAW composition, waste stream concentrations, dry-materials sources, and mix ratios of waste feed to dry blend. A statistically designed test matrix will be used to evaluate the effects of these key parameters on the properties of the Cast Stone as it is initially prepared and after curing. The second phase of testing will focus on selection of a baseline Cast Stone formulation for LAW and demonstrating that Cast Stone can meet expected waste form requirements for disposal in the IDF. It is expected that this testing will use the results of the screening tests to define a smaller suite of tests to refine the composition of the baseline Cast Stone formulation (e.g. waste concentration, water to dry mix ratio, waste loading).

  13. A Novel Frizzled-Based Screening Tool Identifies Genetic Modifiers of Planar Cell Polarity in Drosophila Wings

    Directory of Open Access Journals (Sweden)

    Jose Maria Carvajal-Gonzalez

    2016-12-01

    Full Text Available Most mutant alleles in the Fz-PCP pathway genes were discovered in classic Drosophila screens looking for recessive loss-of-function (LOF mutations. Nonetheless, although Fz-PCP signaling is sensitive to increased doses of PCP gene products, not many screens have been performed in the wing under genetically engineered Fz overexpression conditions, mostly because the Fz phenotypes were strong and/or not easy to score and quantify. Here, we present a screen based on an unexpected mild Frizzled gain-of-function (GOF phenotype. The leakiness of a chimeric Frizzled protein designed to be accumulated in the endoplasmic reticulum (ER generated a reproducible Frizzled GOF phenotype in Drosophila wings. Using this genotype, we first screened a genome-wide collection of large deficiencies and found 16 strongly interacting genomic regions. Next, we narrowed down seven of those regions to finally test 116 candidate genes. We were, thus, able to identify eight new loci with a potential function in the PCP context. We further analyzed and confirmed krasavietz and its interactor short-stop as new genes acting during planar cell polarity establishment with a function related to actin and microtubule dynamics.

  14. A Comment on the Efficiency of the Revised Denver Developmental Screening Test

    Science.gov (United States)

    Nugent, James H.

    1976-01-01

    The efficiency of the Revised Denver Developmental Screening Test an easily administered measure of four areas of infant and preschool development, was evaluated using an estimate of the base rate of mental retardation in the screening population. (Author/CL)

  15. 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.

  16. Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America.

    Science.gov (United States)

    Giugliani, Roberto

    2012-09-01

    The aim of newborn screening (NBS) programs is to detect a condition in a presymptomatic baby and provide management measures which could significantly improve the natural history of the disease. NBS programs for metabolic diseases were first introduced in North America and Europe and in the 1960s for phenylketonuria, expanded a few years later to include congenital hypothyroidism, and have been growing steadily in terms of number of conditions tested for and number of countries and births covered. Lysosomal storage diseases (LSDs) are a group of around 50 genetic conditions in which a defect in a lysosomal function occurs. LSDs are progressive conditions, being usually asymptomatic at birth, but with clinical features becoming apparent in childhood, with severe manifestations in most instances, high morbidity and shortened life span. Although individually rare, the prevalence of LSDs is significant when the group is considered as a whole (around 1:4,000-1:9,000 live births). Several management techniques, including bone marrow transplantation, enzyme replacement therapy, substrate inhibition therapy, pharmacological chaperones and many other approaches are transforming the LSDs into treatable conditions. However, lack of awareness and lack of access to tests cause a significant delay between onset of symptoms and diagnosis. Several lines of evidence showing that the earlier introduction of therapy may provide a better outcome, are bringing support to the idea of including LSDs in NBS programs. Due to advances in technology, high-throughput multiplex methods are now available for mass screening of several LSDs. Pilot projects were already developed in many countries for some LSDs, with interesting results. Although some NBS in Latin America has been carried out since the 1970s, it has so far been incorporated as a public health program in only a few countries in the region. It will probably take many years before NBS is implemented in most Latin American countries

  17. Development and pilot testing of a vitiligo screening tool.

    Science.gov (United States)

    Sheth, Vaneeta M; Gunasekera, Nicole S; Silwal, Sujeeta; Qureshi, Abrar A

    2015-01-01

    Studies aimed at understanding the pathology, genetics, and therapeutic response of vitiligo rely on asking a single question about 'physician-diagnosed' vitiligo on surveys to identify subjects for research. However, this type of self-reporting is not sufficient. Our objective was to determine if the patient-administered Vitiligo Screening Tool (VISTO) is a sensitive and specific instrument for the detection of vitiligo in an adult population. The VISTO consists of eight closed-ended questions to assess whether the survey participant has ever been diagnosed with vitiligo by a healthcare worker and uses characteristic pictures and descriptions to inquire about the subtype and extent of any skin lesions. 159 patients at the Brigham and Women's Hospital dermatology clinic with or without a diagnosis of vitiligo were recruited. A board-certified dermatologist confirmed or excluded the diagnosis of vitiligo in each subject. 147 completed questionnaires were analyzed, 47 cases and 100 controls. The pictorial question showed 97.9% sensitivity and 98% specificity for diagnosis of vitiligo. Answering "yes" to being diagnosed with vitiligo by a dermatologist and choosing one photographic representation of vitiligo showed 95.2% sensitivity and 100% specificity for diagnosis of vitiligo. We conclude that VISTO is a highly sensitive and specific, low-burden, self-administered tool for identifying vitiligo among adult English speakers. We believe this tool will provide a simple, cost-effective way to confirm vitiligo prior to enrollment in clinical trials as well as for gathering large-scale epidemiologic data in remote populations. Future work to refine the VISTO is needed prior to use in genotype-phenotype correlation studies.

  18. Factors associated with completion of bowel cancer screening and the potential effects of simplifying the screening test algorithm

    Science.gov (United States)

    Kearns, Benjamin; Whyte, Sophie; Seaman, Helen E; Snowball, Julia; Halloran, Stephen P; Butler, Piers; Patnick, Julietta; Nickerson, Claire; Chilcott, Jim

    2016-01-01

    Background: The primary colorectal cancer screening test in England is a guaiac faecal occult blood test (gFOBt). The NHS Bowel Cancer Screening Programme (BCSP) interprets tests on six samples on up to three test kits to determine a definitive positive or negative result. However, the test algorithm fails to achieve a definitive result for a significant number of participants because they do not comply with the programme requirements. This study identifies factors associated with failed compliance and modifications to the screening algorithm that will improve the clinical effectiveness of the screening programme. Methods: The BCSP Southern Hub data for screening episodes started in 2006–2012 were analysed for participants aged 60–69 years. The variables included age, sex, level of deprivation, gFOBt results and clinical outcome. Results: The data set included 1 409 335 screening episodes; 95.08% of participants had a definitively normal result on kit 1 (no positive spots). Among participants asked to complete a second or third gFOBt, 5.10% and 4.65%, respectively, failed to return a valid kit. Among participants referred for follow up, 13.80% did not comply. Older age was associated with compliance at repeat testing, but non-compliance at follow up. Increasing levels of deprivation were associated with non-compliance at repeat testing and follow up. Modelling a reduction in the threshold for immediate referral led to a small increase in completion of the screening pathway. Conclusions: Reducing the number of positive spots required on the first gFOBt kit for referral for follow-up and targeted measures to improve compliance with follow-up may improve completion of the screening pathway. PMID:26766733

  19. Apocalypse... Now? Molecular epidemiology, predictive genetic tests, and social communication of genetic contents

    Directory of Open Access Journals (Sweden)

    Luis David Castiel

    Full Text Available The author analyzes the underlying theoretical aspects in the construction of the molecular watershed of epidemiology and the concept of genetic risk, focusing on issues raised by contemporary reality: new technologies, globalization, proliferation of communications strategies, and the dilution of identity matrices. He discusses problems pertaining to the establishment of such new interdisciplinary fields as molecular epidemiology and molecular genetics. Finally, he analyzes the repercussions of the social communication of genetic content, especially as related to predictive genetic tests and cloning of animals, based on triumphal, deterministic metaphors sustaining beliefs relating to the existence and supremacy of concepts such as 'purity', 'essence', and 'unification' of rational, integrated 'I's/egos'.

  20. Exploring general practitioners' experience of informing women about prenatal screening tests for foetal abnormalities: A qualitative focus group study

    Directory of Open Access Journals (Sweden)

    Meiser Bettina

    2008-05-01

    Full Text Available Abstract Background Recent developments have made screening tests for foetal abnormalities available earlier in pregnancy and women have a range of testing options accessible to them. It is now recommended that all women, regardless of their age, are provided with information on prenatal screening tests. General Practitioners (GPs are often the first health professionals a woman consults in pregnancy. As such, GPs are well positioned to inform women of the increasing range of prenatal screening tests available. The aim of this study was to explore GPs experience of informing women of prenatal genetic screening tests for foetal abnormality. Methods A qualitative study consisting of four focus groups was conducted in metropolitan and rural Victoria, Australia. A discussion guide was used and the audio-taped transcripts were independently coded by two researchers using thematic analysis. Multiple coders and analysts and informant feedback were employed to reduce the potential for researcher bias and increase the validity of the findings. Results Six themes were identified and classified as 'intrinsic' if they occurred within the context of the consultation or 'extrinsic' if they consisted of elements that impacted on the GP beyond the scope of the consultation. The three intrinsic themes were the way GPs explained the limitations of screening, the extent to which GPs provided information selectively and the time pressures at play. The three extrinsic factors were GPs' attitudes and values towards screening, the conflict they experienced in offering screening information and the sense of powerlessness within the screening test process and the health care system generally. Extrinsic themes reveal GPs' attitudes and values to screening and to disability, as well as raising questions about the fundamental premise of testing. Conclusion The increasing availability and utilisation of screening tests, in particular first trimester tests, has expanded GPs

  1. Guidelines for genetic testing of inherited cardiac disorders.

    Science.gov (United States)

    Ingles, Jodie; Zodgekar, Poonam R; Yeates, Laura; Macciocca, Ivan; Semsarian, Christopher; Fatkin, Diane

    2011-11-01

    Inherited gene variants have been implicated increasingly in cardiac disorders but the clinical impact of these discoveries has been variable. For some disorders, such as familial hypertrophic cardiomyopathy, long QT syndrome, and familial hypercholesterolaemia, genetic testing has a high yield and has become an integral part of family management. For other disorders, including dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and atrial fibrillation, relatively less is known about the genes involved and genetic testing has a lower yield. Recent advances in sequencing and array-based technologies promise to change the landscape of our understanding of the genetic basis of human disease and will dramatically increase the rate of detection of genomic variants. Since every individual is expected to harbour thousands of variants, many of which may be novel, interpretation of the functional significance of any single variant is critical, and should be undertaken by experienced personnel. Genotype results can have a wide range of medical and psychosocial implications for affected and unaffected individuals and hence, genetic testing should be performed in a specialised cardiac genetic clinic or clinical genetics service where appropriate family management and genetic counselling can be offered. Copyright © 2011 Australasian Society of Cardiac and Thoracic Surgeons and the Cardiac Society of Australia and New Zealand. Published by Elsevier B.V. All rights reserved.

  2. Genetic screening for Krabbe disease: learning from the past and looking to the future.

    Science.gov (United States)

    Macarov, Michal; Zlotogora, Joel; Meiner, Vardiella; Khatib, Zinab; Sury, Vivi; Mengistu, Getu; Bargal, Ruth; Shmueli, Esther; Meidan, Bela; Zeigler, Marsha

    2011-03-01

    In Israel, Krabbe disease is frequent in two Moslem Arab villages in the Jerusalem area. In this paper we present our experience of almost four decades with diagnosis of Krabbe disease, carrier screening and prenatal diagnosis. The screening program is well accepted by the community, and there is a clear trend towards premarital testing. The screening program and prenatal diagnosis have led to a decrease in the incidence of Krabbe disease from 1.6 per 1,000 live births to 0.82 per 1,000. Copyright © 2011 Wiley-Liss, Inc.

  3. Evaluation of screening tests for the detection of antistreptolysin O antibodies.

    OpenAIRE

    Lue, Y. A.; Nicolas, C.; Kemawikasit, P.; Pierre, A.; McLean, T I; Simms, D H

    1983-01-01

    The accuracy of two screening tests, one utilizing serum and the other utilizing whole blood, was compared with the accuracy of the conventional macrotitration method for the detection of antistreptolysin O antibodies. Of the 569 specimens tested with the serum screening procedure and the macrotitration method, 235 and 282, respectively, were positive for antistreptolysin O antibodies. Comparative testing of 200 specimens with the peripheral blood screening test and the macrotitration method ...

  4. 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.

  5. Incorporating human papillomavirus testing into cytological screening in the era of prophylactic vaccines.

    Science.gov (United States)

    Almonte, Maribel; Sasieni, Peter; Cuzick, Jack

    2011-10-01

    Screening for, and treatment of, pre-cancerous cervical lesions has lead to dramatic reductions in cervical cancer in many countries. In all cases, cervical screening has been based on cytology, but that is beginning to change. Research studies, including randomised trials, clearly show that human papillomavirus (HPV) testing could be used to prevent a greater proportion of cervical cancer within a practical screening programme. Meanwhile, young adolescents are being vaccinated against HPV in developed countries, but cervical screening should continue for many years because it will take decades before most of those targeted by screening have been vaccinated. In the HPV vaccination era, the rate of cervical disease will decrease, and so will the positive predictive value of cytology. The screening characteristics of HPV testing make it the preferred choice for primary screening. However, questions regarding how to use HPV testing to screen vaccinated and unvaccinated women in the future remain unanswered. Copyright © 2011 Elsevier Ltd. All rights reserved.

  6. Genetic counseling issues in predictive genetic testing for familial adult-onset neurologic diseases.

    Science.gov (United States)

    Burson, C M; Markey, K R

    2001-09-01

    Genetic counseling is important in any genetic testing situation in order to address the various issues related to obtaining a genetic diagnosis. Presymptomatic testing for adult-onset neurodegenerative disease, in particular, presents a complex counseling scenario. It is imperative to discuss the potential impact of test results on patients' family dynamics, insurability and employability, family planning, and future health in addition to ascertaining a complete understanding of recurrence, inheritance, and testing parameters. The Huntington disease presymptomatic testing protocol is well-defined and has been used for more than 10 years. These guidelines, which protect both patient and provider, can now be applied to other diseases as further presymptomatic testing capabilities are realized.

  7. The Relationship between Preeclampsia and Quadruple Screening Test in Nuliparous

    Directory of Open Access Journals (Sweden)

    Farnaz Zand Vakili

    2017-01-01

    Full Text Available Introduction: Early diagnosis and prediction of preeclampsia needs appropriate obstetric care. Preeclampsia predicting methods are important. This study was designed to determine the correlation between preeclampsia and quadruple screening test in the nulliparous. Materials and Methods:  This case - control study was conducted on 54 pregnant women with preeclampsia (case group and 108 healthy pregnant women (control group who referred to health centers in Sanandaj, Iran. Ultrasonography was performed to determine the gestational age by a radiologist. Maternal serum levels of alpha fetoprotein (AFP, human chorionic gonadotropin (hCG, unconjugated estriol (uE3, and inhibin-A were measured in the second trimester of pregnancy. Data were analyzed using SPSS statistical software and Chi-square test, T-test, sensitivity, specificity, positive and negative predictive values. Results: The results showed that the sensitivity and specificity for the diagnosis of preeclampsia in pregnant women for hCG were 35.2% and 79.6 respectively. These findings for estriol were 20.4% and 88.9%, for inhibin-A were 38.8% and 88% and for alpha fetoprotein were 38.8% and 74.1%. The positive predictive value for hCG, estriol, inhibin-A and alpha fetoprotein were 46.3%, 47.8%, 61.8% and 42.9% respectively. The negative predictive value for hCG, estriol, inhibin-A and alpha fetoprotein were also 71%, 69.1%, 74.2% and 70.8% respectively. Conclusion: There was a relationship between preeclampsia and high levels of inhibin-A and hCG. Further studies on these markers and evaluating their usefulness in the diagnosis and management of preeclampsia are recommended.

  8. What Do the Results of Genetic Tests Mean?

    Science.gov (United States)

    ... healthcare professionals consider a person’s medical history, family history, and the type of genetic test that was done. A positive test result means that the laboratory found a change in a particular gene, chromosome, or protein of interest. Depending on the purpose of the ...

  9. Prognostic Factors for Distress After Genetic Testing for Hereditary Cancer

    NARCIS (Netherlands)

    Voorwinden, Jan S; Jaspers, Jan P C

    2015-01-01

    The psychological impact of an unfavorable genetic test result for counselees at risk for hereditary cancer seems to be limited: only 10-20 % of counselees have psychological problems after testing positive for a known familial mutation. The objective of this study was to find prognostic factors tha

  10. Prognostic Factors for Distress After Genetic Testing for Hereditary Cancer

    NARCIS (Netherlands)

    Voorwinden, Jan S.; Jaspers, Jan P C

    2016-01-01

    The psychological impact of an unfavorable genetic test result for counselees at risk for hereditary cancer seems to be limited: only 10-20 % of counselees have psychological problems after testing positive for a known familial mutation. The objective of this study was to find prognostic factors tha

  11. Early Adoption of a Multitarget Stool DNA Test for Colorectal Cancer Screening.

    Science.gov (United States)

    Finney Rutten, Lila J; Jacobson, Robert M; Wilson, Patrick M; Jacobson, Debra J; Fan, Chun; Kisiel, John B; Sweetser, Seth; Tulledge-Scheitel, Sidna M; St Sauver, Jennifer L

    2017-05-01

    To characterize early adoption of a novel multitarget stool DNA (MT-sDNA) screening test for colorectal cancer (CRC) screening and to test the hypothesis that adoption differs by demographic characteristics and prior CRC screening behavior and proceeds predictably over time. We used the Rochester Epidemiology Project research infrastructure to assess the use of the MT-sDNA screening test in adults aged 50 to 75 years living in Olmsted County, Minnesota, in 2014 and identified 27,147 individuals eligible or due for screening colonoscopy from November 1, 2014, through November 30, 2015. We used electronic Current Procedure Terminology and Health Care Common Procedure codes to evaluate early adoption of the MT-sDNA screening test in this population and to test whether early adoption varies by age, sex, race, and prior CRC screening behavior. Overall, 2193 (8.1%) and 974 (3.6%) individuals were screened by colonoscopy and MT-sDNA, respectively. Age, sex, race, and prior CRC screening behavior were significantly and independently associated with MT-sDNA screening use compared with colonoscopy use after adjustment for all other variables (Pscreening increased over time and were highest in those aged 50 to 54 years, women, whites, and those who had a history of screening. The use of the MT-sDNA screening test varied predictably by insurance coverage. The rates of colonoscopy decreased over time, whereas overall CRC screening rates remained steady. The results of the present study are generally consistent with predictions derived from prior research and the diffusion of innovation framework, pointing to increasing use of the new screening test over time and early adoption by younger patients, women, whites, and those with prior CRC screening. Copyright © 2017 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

  12. Genetic Testing Accounts of Autonomy, Responsibility and Blame

    DEFF Research Database (Denmark)

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

    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......, 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....

  13. 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.

  14. Screening of herbal extracts influencing hematopoiesis and their chemical genetic effects in embryonic zebrafish

    Institute of Scientific and Technical Information of China (English)

    Rajaretinam Rajesh Kannan; Samuel Gnana Prakash Vincent

    2012-01-01

    Objective: To screen the herbal extracts influencing the hematopoietic stem cells (HSC) in zebrafish embryos and their chemical genetic effects. Methods: The herbals used in this study had been widely applicable in Siddha medicines in South India. Herbal extracts were treated in zebrafish embryos at 4 d post fertilization and the extracts inducing the HSC were enumerated in hemocytometer. The biocompatibility and the organogenesis of the screened extracts were assessed in the zebrafish embryos for their chemical genetic effects. The LC50 values were calculated with their parallel control. The blood cells were enumerated. Results: The level of RBC was found increased in the Bergera koenigii (B. koenigii) at 15 μg/mL (P<0.05), Mimosa pudica (M. pudica) at 20 μg/mL (P<0.05) and Solanum trilobatum (S. trilobatum) at 25 μg/mL (P<0.05) and decreased RBC level was found in Phyllanthus niruri (P. niruri) at 30 μg/mL (P<0.05). The WBC count was found increased in S. trilobatum at 20 μg/mL (P<0.05) and Annona muricata (Annona muricata) at 15 μg/mL (P<0.05) and the Vitis quadrangularis (V. quadrangularis) at 20 μg/mL (P<0.05) decreased the WBC level. There were no notable effects in heart beats and the chemical genetic effects were observed at higher concentration of the extract resulting in Pericardial bulging, trunk tail flexure with heart edema, fin fold deformities etc. Conclusions: This in vivo based screening of Hematopoiesis is an inexpensive assay to screen herbal compounds and found that S. trilobatum extract influenced embryonic HSC in zebrafish, which could be a therapeutic for blood related disorders.

  15. A genetic screen in Drosophila reveals novel cytoprotective functions of the autophagy-lysosome pathway.

    Directory of Open Access Journals (Sweden)

    Andrew M Arsham

    Full Text Available The highly conserved autophagy-lysosome pathway is the primary mechanism for breakdown and recycling of macromolecular and organellar cargo in the eukaryotic cell. Autophagy has recently been implicated in protection against cancer, neurodegeneration, and infection, and interest is increasing in additional roles of autophagy in human health, disease, and aging. To search for novel cytoprotective features of this pathway, we carried out a genetic mosaic screen for mutations causing increased lysosomal and/or autophagic activity in the Drosophila melanogaster larval fat body. By combining Drosophila genetics with live-cell imaging of the fluorescent dye LysoTracker Red and fixed-cell imaging of autophagy-specific fluorescent protein markers, the screen was designed to identify essential metazoan genes whose disruption causes increased flux through the autophagy-lysosome pathway. The screen identified a large number of genes associated with the protein synthesis and ER-secretory pathways (e.g. aminoacyl tRNA synthetases, Oligosaccharyl transferase, Sec61alpha, and with mitochondrial function and dynamics (e.g. Rieske iron-sulfur protein, Dynamin-related protein 1. We also observed that increased lysosomal and autophagic activity were consistently associated with decreased cell size. Our work demonstrates that disruption of the synthesis, transport, folding, or glycosylation of ER-targeted proteins at any of multiple steps leads to autophagy induction. In addition to illuminating cytoprotective features of autophagy in response to cellular damage, this screen establishes a genetic methodology for investigating cell biological phenotypes in live cells, in the context of viable wild type organisms.

  16. Genetic susceptibility testing from a stress and coping perspective.

    Science.gov (United States)

    Gooding, Holly C; Organista, Kurt; Burack, Jeffrey; Biesecker, Barbara Bowles

    2006-04-01

    Four theories of health behavior and of stress and coping are reviewed for their ability to illuminate interest in uptake and outcomes of genetic testing for adult-onset diseases. These theories are the Health Belief Model, the Theory of Planned Behavior (TPB), the Common Sense Model of Self-regulation (CSM), and the Transactional Model of Stress and Coping (TMSC). Basic concepts of each theory are discussed, followed by evidence from the literature supporting the relevance of these concepts to the understanding of genetic testing for four adult-onset diseases: Huntington's disease, Alzheimer's disease, hereditary breast/ovarian cancer, and hereditary colorectal cancer. Emphasis is placed on the finding that a decision to undergo genetic testing may be considered as a way to cope with both the cognitive and affective concerns that arise from living at increased risk of developing a disease in the future. The potential value of genetic testing for reducing uncertainty about and gaining a sense of control over one's risk of developing a chronic disease is highlighted. We argue that theories which focus on stress and coping provide a useful framework for future studies of genetic testing decisions for adult-onset disease risk.

  17. Postoperative bleeding in a patient with normal screening coagulation tests.

    Science.gov (United States)

    Nourbakhsh, Eva; Anvari, Reza; D'cunha, Nicholas; Thaxton, Lauren; Malik, Asim; Nugent, Kenneth

    2011-09-01

    A 54-year-old man was brought to the emergency room after a head-on collision. He had multiple fractures in his lower extremities and required immediate surgery. After surgery, the patient had a persistent drop in hemoglobin, hematocrit and platelets despite red blood cell transfusions. Laboratory studies included normal prothrombin time, activated partial thromboplastin time, normal plasminogen functional activity, negative antiplatelet antibodies, normal platelet functional analysis and negative disseminated intravascular coagulation screen. Factor XIII antigen levels were 25% of predicted, and the diagnosis of factor XIII deficiency was made. The patient was treated with cryoprecipitate, and the bleeding stopped. Patients with factor XIII deficiency have either a rare congenital or acquired coagulation disorder. Both presentations have normal standard laboratory clotting tests, and the diagnosis requires an assay measuring factor XIII activity or antigen levels. The usual treatment includes cryoprecipitate, fresh-frozen plasma or recombinant factor XIII. This deficiency should be considered in patients with unexplained spontaneous, traumatic or postoperative bleeding.

  18. 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.

  19. Identification of common genetic modifiers of neurodegenerative diseases from an integrative analysis of diverse genetic screens in model organisms

    Directory of Open Access Journals (Sweden)

    Chen Xi

    2012-02-01

    Full Text Available Abstract Background An array of experimental models have been developed in the small model organisms C. elegans, S. cerevisiae and D. melanogaster for the study of various neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, and expanded polyglutamine diseases as exemplified by Huntington's disease (HD and related ataxias. Genetic approaches to determine the nature of regulators of the disease phenotypes have ranged from small scale to essentially whole genome screens. The published data covers distinct models in all three organisms and one important question is the extent to which shared genetic factors can be uncovered that affect several or all disease models. Surprisingly it has appeared that there may be relatively little overlap and that many of the regulators may be organism or disease-specific. There is, however, a need for a fully integrated analysis of the available genetic data based on careful comparison of orthologues across the species to determine the real extent of overlap. Results We carried out an integrated analysis using C. elegans as the baseline model organism since this is the most widely studied in this context. Combination of data from 28 published studies using small to large scale screens in all three small model organisms gave a total of 950 identifications of genetic regulators. Of these 624 were separate genes with orthologues in C. elegans. In addition, 34 of these genes, which all had human orthologues, were found to overlap across studies. Of the common genetic regulators some such as chaperones, ubiquitin-related enzymes (including the E3 ligase CHIP which directly links the two pathways and histone deacetylases were involved in expected pathways whereas others such as the peroxisomal acyl CoA-oxidase suggest novel targets for neurodegenerative disease therapy Conclusions We identified a significant number of overlapping regulators of neurodegenerative disease models. Since the diseases

  20. A genetic screen for replication initiation defective (rid mutants in Schizosaccharomyces pombe

    Directory of Open Access Journals (Sweden)

    Locovei Alexandra M

    2010-08-01

    Full Text Available Abstract In fission yeast the intra-S phase and DNA damage checkpoints are activated in response to inhibition of DNA replication or DNA damage, respectively. The intra-S phase checkpoint responds to stalled replication forks leading to the activation of the Cds1 kinase that both delays cell cycle progression and stabilizes DNA replication forks. The DNA damage checkpoint, that operates during the G2 phase of the cell cycle delays mitotic progression through activation of the checkpoint kinase, Chk1. Delay of the cell cycle is believed to be essential to allow time for either replication restart (in S phase or DNA damage repair (in G2. Previously, our laboratory showed that fission yeast cells deleted for the N-terminal half of DNA polymerase ε (Cdc20 are delayed in S phase, but surprisingly require Chk1 rather than Cds1 to maintain cell viability. Several additional DNA replication mutants were then tested for their dependency on Chk1 or Cds1 when grown under semi-permissive temperatures. We discovered that mutants defective in DNA replication initiation are sensitive only to loss of Chk1, whilst mutations that inhibit DNA replication elongation are sensitive to loss of both Cds1 and Chk1. To confirm that the Chk1-sensitive, Cds1-insensitive phenotype (rid phenotype is specific to mutants defective in DNA replication initiation, we completed a genetic screen for cell cycle mutants that require Chk1, but not Cds1 to maintain cell viability when grown at semi-permissive temperatures. Our screen identified two mutants, rid1-1 and rid2-1, that are defective in Orc1 and Mcm4, respectively. Both mutants show defects in DNA replication initiation consistent with our hypothesis that the rid phenotype is replication initiation specific. In the case of Mcm4, the mutation has been mapped to a highly conserved region of the protein that appears to be required for DNA replication initiation, but not elongation. Therefore, we conclude that the cellular

  1. A Quantitative PCR-Electrochemical Genosensor Test for the Screening of Biotech Crops

    Science.gov (United States)

    Moura-Melo, Suely; Miranda-Castro, Rebeca; de-los-Santos-Álvarez, Noemí; Miranda-Ordieres, Arturo J.; dos Santos Junior, José Ribeiro; da Silva Fonseca, Rosana A.; Lobo-Castañón, María Jesús

    2017-01-01

    The design of screening methods for the detection of genetically modified organisms (GMOs) in food would improve the efficiency in their control. We report here a PCR amplification method combined with a sequence-specific electrochemical genosensor for the quantification of a DNA sequence characteristic of the 35S promoter derived from the cauliflower mosaic virus (CaMV). Specifically, we employ a genosensor constructed by chemisorption of a thiolated capture probe and p-aminothiophenol gold surfaces to entrap on the sensing layer the unpurified PCR amplicons, together with a signaling probe labeled with fluorescein. The proposed test allows for the determination of a transgene copy number in both hemizygous (maize MON810 trait) and homozygous (soybean GTS40-3-2) transformed plants, and exhibits a limit of quantification of at least 0.25% for both kinds of GMO lines. PMID:28420193

  2. A Quantitative PCR-Electrochemical Genosensor Test for the Screening of Biotech Crops

    Directory of Open Access Journals (Sweden)

    Suely Moura-Melo

    2017-04-01

    Full Text Available The design of screening methods for the detection of genetically modified organisms (GMOs in food would improve the efficiency in their control. We report here a PCR amplification method combined with a sequence-specific electrochemical genosensor for the quantification of a DNA sequence characteristic of the 35S promoter derived from the cauliflower mosaic virus (CaMV. Specifically, we employ a genosensor constructed by chemisorption of a thiolated capture probe and p-aminothiophenol gold surfaces to entrap on the sensing layer the unpurified PCR amplicons, together with a signaling probe labeled with fluorescein. The proposed test allows for the determination of a transgene copy number in both hemizygous (maize MON810 trait and homozygous (soybean GTS40-3-2 transformed plants, and exhibits a limit of quantification of at least 0.25% for both kinds of GMO lines.

  3. Colon cancer screening

    Science.gov (United States)

    Screening for colon cancer; Colonoscopy - screening; Sigmoidoscopy - screening; Virtual colonoscopy - screening; Fecal immunochemical test; Stool DNA test; sDNA test; Colorectal cancer - screening; Rectal ...

  4. Development of a qualitative, multiplex real-time PCR kit for screening of genetically modified organisms (GMOs).

    Science.gov (United States)

    Dörries, Hans-Henno; Remus, Ivonne; Grönewald, Astrid; Grönewald, Cordt; Berghof-Jäger, Kornelia

    2010-03-01

    The number of commercially available genetically modified organisms (GMOs) and therefore the diversity of possible target sequences for molecular detection techniques are constantly increasing. As a result, GMO laboratories and the food production industry currently are forced to apply many different methods to reliably test raw material and complex processed food products. Screening methods have become more and more relevant to minimize the analytical effort and to make a preselection for further analysis (e.g., specific identification or quantification of the GMO). A multiplex real-time PCR kit was developed to detect the 35S promoter of the cauliflower mosaic virus, the terminator of the nopaline synthase gene of Agrobacterium tumefaciens, the 35S promoter from the figwort mosaic virus, and the bar gene of the soil bacterium Streptomyces hygroscopicus as the most widely used sequences in GMOs. The kit contains a second assay for the detection of plant-derived DNA to control the quality of the often processed and refined sample material. Additionally, the plant-specific assay comprises a homologous internal amplification control for inhibition control. The determined limits of detection for the five assays were 10 target copies/reaction. No amplification products were observed with DNAs of 26 bacterial species, 25 yeasts, 13 molds, and 41 not genetically modified plants. The specificity of the assays was further demonstrated to be 100% by the specific amplification of DNA derived from reference material from 22 genetically modified crops. The applicability of the kit in routine laboratory use was verified by testing of 50 spiked and unspiked food products. The herein described kit represents a simple and sensitive GMO screening method for the reliable detection of multiple GMO-specific target sequences in a multiplex real-time PCR reaction.

  5. Patterns of Cancer Genetic Testing: A Randomized Survey of Oregon Clinicians

    Directory of Open Access Journals (Sweden)

    Summer L. Cox

    2012-01-01

    Full Text Available 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.

  6. Nouws antibiotics test: Validation of a post-screening method for antibiotic residues in kidney

    NARCIS (Netherlands)

    Pikkemaat, M.G.; Oostra-van Dijk, S.; Schouten, J.; Rapallini, M.; Kortenhoeven, L.; Egmond, van H.J.

    2009-01-01

    Anticipating the rise in ‘suspect’ samples caused by the introduction of a more sensitive screening test for the presence of antibiotic residues in slaughter animals, an additional microbial post-screening method was developed. The test comprises four antibiotic group specific test plates, optimized

  7. Tier One Performance Screen Initial Operational Test and Evaluation: 2011 Interim Report

    Science.gov (United States)

    2012-04-01

    Battery (ASVAB) Content, Structure, and Scor ing The ASVAB is a multiple aptitude battery of nine tests administered by the MEPCOM. Most military...Technical Report 1306 Tier One Performance Screen Initial Operational Test and Evaluation: 2011 Interim Report Deirdre J...to) August 2009 to May 2011 4. TITLE AND SUBTITLE Tier One Performance Screen Initial Operational Test and Evaluation: 2011 Interim

  8. Does population screening for Chlamydia trachomatis raise anxiety among those tested? Findings from a population based chlamydia screening study

    Directory of Open Access Journals (Sweden)

    Low Nicola

    2006-04-01

    Full Text Available Abstract Background The advent of urine testing for Chlamydia trachomatis has raised the possibility of large-scale screening for this sexually transmitted infection, which is now the most common in the United Kingdom. The purpose of this study was to investigate the effect of an invitation to be screened for chlamydia and of receiving a negative result on levels of anxiety, depression and self-esteem. Methods 19,773 men and women aged 16 to 39 years, selected at random from 27 general practices in two large city areas (Bristol and Birmingham were invited by post to send home-collected urine samples or vulvo-vaginal swabs for chlamydia testing. Questionnaires enquiring about anxiety, depression and self-esteem were sent to random samples of those offered screening: one month before the dispatch of invitations; when participants returned samples; and after receiving a negative result. Results Home screening was associated with an overall reduction in anxiety scores. An invitation to participate did not increase anxiety levels. Anxiety scores in men were lower after receiving the invitation than at baseline. Amongst women anxiety was reduced after receipt of negative test results. Neither depression nor self-esteem scores were affected by screening. Conclusion Postal screening for chlamydia does not appear to have a negative impact on overall psychological well-being and can lead to a decrease in anxiety levels among respondents. There is, however, a clear difference between men and women in when this reduction occurs.

  9. A genetic screen to isolate Toxoplasma gondii host-cell egress mutants.

    Science.gov (United States)

    Coleman, Bradley I; Gubbels, Marc-Jan

    2012-02-08

    The widespread, obligate intracellular, protozoan parasite Toxoplasma gondii causes opportunistic disease in immuno-compromised patients and causes birth defects upon congenital infection. The lytic replication cycle is characterized by three stages: 1. active invasion of a nucleated host cell; 2. replication inside the host cell; 3. active egress from the host cell. The mechanism of egress is increasingly being appreciated as a unique, highly regulated process, which is still poorly understood at the molecular level. The signaling pathways underlying egress have been characterized through the use of pharmacological agents acting on different aspects of the pathways. As such, several independent triggers of egress have been identified which all converge on the release of intracellular Ca(2+), a signal that is also critical for host cell invasion. This insight informed a candidate gene approach which led to the identification of plant like calcium dependent protein kinase (CDPK) involved in egress. In addition, several recent breakthroughs in understanding egress have been made using (chemical) genetic approaches. To combine the wealth of pharmacological information with the increasing genetic accessibility of Toxoplasma we recently established a screen permitting the enrichment for parasite mutants with a defect in host cell egress. Although chemical mutagenesis using N-ethyl-N-nitrosourea (ENU) or ethyl methanesulfonate (EMS) has been used for decades in the study of Toxoplasma biology, only recently has genetic mapping of mutations underlying the phenotypes become routine. Furthermore, by generating temperature-sensitive mutants, essential processes can be dissected and the underlying genes directly identified. These mutants behave as wild-type under the permissive temperature (35 °C), but fail to proliferate at the restrictive temperature (40 °C) as a result of the mutation in question. Here we illustrate a new phenotypic screening method to isolate mutants

  10. Pre-implantation genetic screening using fluorescence in situ hybridization in couples of Indian ethnicity: Is there a scope?

    Directory of Open Access Journals (Sweden)

    Shailaja Gada Saxena

    2014-01-01

    Full Text Available Context: There is a high incidence of numerical chromosomal aberration in couples with repeated in vitro fertilization (IVF failure, advanced maternal age, repeated unexplained abortions, severe male factor infertility and unexplained infertility. Pre-implantation genetic screening (PGS, a variant of pre-implantation genetic diagnosis, screens numerical chromosomal aberrations in couples with normal karyotype, experiencing poor reproductive outcome. The present study includes the results of the initial pilot study on 9 couples who underwent 10 PGS cycles. Aim: The aim of the present study was to evaluate the beneficial effects of PGS in couples with poor reproductive outcome. Settings and Design: Data of initial 9 couples who underwent 10 PGS for various indications was evaluated. Subjects and Methods: Blastomere biopsy was performed on cleavage stage embryos and subjected to two round fluorescence in situ hybridization (FISH testing for chromosomes 13, 18, 21, X and Y as a two-step procedure. Results: Six of the 9 couples (10 PGS cycles conceived, including a twin pregnancy in a couple with male factor infertility, singleton pregnancies in a couple with secondary infertility, in three couples with adverse obstetric outcome in earlier pregnancies and in one couple with repeated IVF failure. Conclusion: In the absence of availability of array-comparative genomic hybridization in diagnostic clinical scenario for PGS and promising results with FISH based PGS as evident from the current pilot study, it is imperative to offer the best available services in the present scenario for better pregnancy outcome for patients.

  11. American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.

    Science.gov (United States)

    2003-06-15

    the scope of parental authority encompasses the right to decide for or against testing. In the absence of increased risk of a childhood malignancy, ASCO recommends delaying genetic testing until an individual is of sufficient age to make an informed decision regarding such tests. As in other areas of pediatric care, the clinical cancer genetics professional should be an advocate for the best interests of the child. Counseling About Medical Management After Testing: ASCO recommends that oncologists include in pre- and post-test counseling the discussion of possible risks and benefits of cancer early-detection and prevention modalities, some of which have presumed but unproven efficacy for individuals at increased hereditary risk of cancer. Regulation of Genetic Testing: ASCO recommends strengthening regulatory oversight of laboratories that provide clinical cancer predisposition tests. These quality assurance mechanisms should include oversight of the reagents used in genetic testing, interlaboratory comparisons of reference samples, standardization of laboratory genetic test reports, and proficiency testing. Protection From Insurance and Employment Discrimination: ASCO supports establishing a federal law to prohibit discrimination by health insurance providers and employers on the basis of an individual's inherited susceptibility to cancer. Protections against genetic discrimination should apply to those with group coverage, those with individual health insurance policies, and the uninsured. Coverage of Services: ASCO supports efforts to ensure that all individuals at significantly increased risk of hereditary cancer have access to appropriate genetic counseling, testing, screening, surveillance, and all related medical and surgical interventions, which should be covered without penalty by public and private third-party payers. Confidentiality and Communication of Familial Risk: ASCO recommends that providers make concerted efforts to protect the confidentiality of

  12. 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.

  13. Genetic testing for Lynch syndrome: family communication and motivation.

    Science.gov (United States)

    Leenen, Celine H M; Heijer, Mariska den; van der Meer, Conny; Kuipers, Ernst J; van Leerdam, Monique E; Wagner, Anja

    2016-01-01

    Current genetic counselling practice for Lynch syndrome (LS) relies on diagnosed index patients to inform their biological family about LS, referred to as the family-mediated approach. The objective of this study was to evaluate this approach and to identify factors influencing the uptake of genetic testing for LS. In 59 mutation carriers, 70 non carriers and 16 non-tested relatives socio-demographic characteristics, family communication regarding LS, experiences and attitudes towards the family-mediated approach and motivations for genetic testing, were assessed. The majority of all respondents (73 %) were satisfied with the family-mediated approach. Nevertheless, 59 % of the respondents experienced informing a family member and 57 % being informed by a family member as burdensome. Non-tested differed from tested respondents, in that they were younger, less closely related to the index patient and a lower proportion had children. The most important reasons for declining genetic testing were (1) anticipating problems with life insurance and mortgage, (2) being content with life as it is, and (3) not experiencing any physical complaints. In conclusion, the majority of respondents consider the current family-mediated information procedure acceptable, although the provision of information on LS by relatives may be burdensome. Special attention should be paid to communication of LS to more distant relatives.

  14. [Huntington disease: presymptomatic testing, prenatal diagnosis, preimplantation genetic diagnosis experience].

    Science.gov (United States)

    Durr, A; Viville, S

    2007-10-01

    Presymptomatic testing for Huntington disease has been available for 15 years. The possibility of determining the genetic status of an at-risk person for the disorder which runs in his or her family raises questions because of the absence of preventive treatments. In addition, being carrier does not allow to determine when the disease starts and how it will evolve, impairing the possibilities of planning the future. A pluridisciplinary approach to predictive testing with care before, during and after the test taking into account the medical, social and psychological aspects of the disease is good practice. At the present time, only a minority of at-risk individuals request presymptomatic testing and almost 50% do not pursue until the results. The consequences of the test may be harmful, more frequently after an unfavorable than after a favorable result. Motivations and the outcome in terms of request for prenatal testing after a carrier result are known today and the number or prenatal testing remains very limited. Preimplantation genetic testing is an alternative for couples who knows or do not their own genetic status. We report our experience in two French centres: Paris for presymptomatic and prenatal testing and Strasbourg for preimplantation diagnosis.

  15. A test of genetic models for the evolutionary maintenance of same-sex sexual behaviour.

    Science.gov (United States)

    Hoskins, Jessica L; Ritchie, Michael G; Bailey, Nathan W

    2015-06-22

    The evolutionary maintenance of same-sex sexual behaviour (SSB) has received increasing attention because it is perceived to be an evolutionary paradox. The genetic basis of SSB is almost wholly unknown in non-human animals, though this is key to understanding its persistence. Recent theoretical work has yielded broadly applicable predictions centred on two genetic models for SSB: overdominance and sexual antagonism. Using Drosophila melanogaster, we assayed natural genetic variation for male SSB and empirically tested predictions about the mode of inheritance and fitness consequences of alleles influencing its expression. We screened 50 inbred lines derived from a wild population for male-male courtship and copulation behaviour, and examined crosses between the lines for evidence of overdominance and antagonistic fecundity selection. Consistent variation among lines revealed heritable genetic variation for SSB, but the nature of the genetic variation was complex. Phenotypic and fitness variation was consistent with expectations under overdominance, although predictions of the sexual antagonism model were also supported. We found an unexpected and strong paternal effect on the expression of SSB, suggesting possible Y-linkage of the trait. Our results inform evolutionary genetic mechanisms that might maintain low but persistently observed levels of male SSB in D. melanogaster, but highlight a need for broader taxonomic representation in studies of its evolutionary causes. © 2015 The Author(s) Published by the Royal Society. All rights reserved.

  16. Genetic Testing for Complex Diseases: a Simulation Study Perspective

    CERN Document Server

    Vinh, Nguyen Xuan

    2011-01-01

    It is widely recognized nowadays that complex diseases are caused by, amongst the others, multiple genetic factors. The recent advent of genome-wide association study (GWA) has triggered a wave of research aimed at discovering genetic factors underlying common complex diseases. While the number of reported susceptible genetic variants is increasing steadily, the application of such findings into diseases prognosis for the general population is still unclear, and there are doubts about whether the size of the contribution by such factors is significant. In this respect, some recent simulation-based studies have shed more light to the prospect of genetic tests. In this report, we discuss several aspects of simulation-based studies: their parameters, their assumptions, and the information they provide.

  17. Endocrine Disruptor Screening and Testing Advisory Committee (EDSTAC) Final Report

    Science.gov (United States)

    The EDSTAC Report was developed through a deliberative process that encouraged the development of consensus solutions to complex problems and issues related to developing an Endocrine Disruptor Screening Program.

  18. Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and β-thalassemia in Saudi Arabia.

    Science.gov (United States)

    Memish, Ziad Ahmed; Saeedi, Mohammad Y

    2011-01-01

    Saudi Arabia has a high prevalence of hereditary hemoglobin disorders. Data has been collected by the Saudi Premarital Screening and Genetic Counseling Program on the prevalence of sickle cell disease and β-thalassemia but the outcomes were not quantified. We used six years of premarital screening data to estimate the burden of sickle disease and β-thalassemia over the program period and to assess the frequency of at-risk marriage detection and prevention. Retrospective review, premarital couples attending premarital and genetic counseling clinics with marriage proposals between 2004 and 2009. Blood samples obtained from all couples with marriage proposals between 2004 and 2009 were tested for sickle cell disease and β-thalassemia. Test results were shared with all examinees and genetic counseling was offered for all at-risk couples. Marriage certificates were issued irrespective of the results and compliance with medical advice was voluntary. Out of all men and women examined, 70,962 (4.5%) and 29,006 (1.8%) were carriers or cases of sickle cell disease and β-thalassemia, respectively. While the prevalence of sickle cell disease was constant between 2004 and 2009 (average 45.1 per 1000 examined persons, P=.803), the prevalence of β-thalassemia steadily decreased from 32.9 to 9.0 per 1000 examined persons (Ppremarital screening in Saudi Arabia markedly reduced the number of at-risk marriages, which may considerably reduce the genetic disease burden in Saudi Arabia in the next decades.

  19. Genetic screening of functional properties of lactic acid bacteria in a fermented pearl millet slurry and in the metagenome of fermented starchy foods.

    Science.gov (United States)

    Turpin, Williams; Humblot, Christèle; Guyot, Jean-Pierre

    2011-12-01

    Lactic acid bacteria (LAB) (n = 152) in African pearl millet slurries and in the metagenomes of amylaceous fermented foods were investigated by screening 33 genes involved in probiotic and nutritional functions. All isolates belonged to six species of the genera Pediococcus and Lactobacillus, and Lactobacillus fermentum was the dominant species. We screened the isolates for the abilities to survive passage through the gastrointestinal tract and to synthesize folate and riboflavin. The isolates were also tested in vitro for their abilities to survive exposure to bile salts and to survive at pH 2. Because the ability to hydrolyze starch confers an ecological advantage on LAB that grow in starchy matrixes as well as improving the nutritional properties of the gruels, we screened for genes involved in starch metabolism. The results showed that genes with the potential ability to survive passage through the gastrointestinal tract were widely distributed among isolates and metagenomes, whereas in vitro tests showed that only a limited set of isolates, mainly those belonging to L. fermentum, could tolerate a low pH. In contrast, the wide distribution of genes associated with bile salt tolerance, in particular bsh, is consistent with the high frequency of tolerance to bile salts observed. Genetic screening revealed a potential for folate and riboflavin synthesis in both isolates and metagenomes, as well as high variability among genes related to starch metabolism. Genetic screening of isolates and metagenomes from fermented foods is thus a promising approach for assessing the functional potential of food microbiotas.

  20. Genetic Screening of Functional Properties of Lactic Acid Bacteria in a Fermented Pearl Millet Slurry and in the Metagenome of Fermented Starchy Foods▿

    Science.gov (United States)

    Turpin, Williams; Humblot, Christèle; Guyot, Jean-Pierre

    2011-01-01

    Lactic acid bacteria (LAB) (n = 152) in African pearl millet slurries and in the metagenomes of amylaceous fermented foods were investigated by screening 33 genes involved in probiotic and nutritional functions. All isolates belonged to six species of the genera Pediococcus and Lactobacillus, and Lactobacillus fermentum was the dominant species. We screened the isolates for the abilities to survive passage through the gastrointestinal tract and to synthesize folate and riboflavin. The isolates were also tested in vitro for their abilities to survive exposure to bile salts and to survive at pH 2. Because the ability to hydrolyze starch confers an ecological advantage on LAB that grow in starchy matrixes as well as improving the nutritional properties of the gruels, we screened for genes involved in starch metabolism. The results showed that genes with the potential ability to survive passage through the gastrointestinal tract were widely distributed among isolates and metagenomes, whereas in vitro tests showed that only a limited set of isolates, mainly those belonging to L. fermentum, could tolerate a low pH. In contrast, the wide distribution of genes associated with bile salt tolerance, in particular bsh, is consistent with the high frequency of tolerance to bile salts observed. Genetic screening revealed a potential for folate and riboflavin synthesis in both isolates and metagenomes, as well as high variability among genes related to starch metabolism. Genetic screening of isolates and metagenomes from fermented foods is thus a promising approach for assessing the functional potential of food microbiotas. PMID:22003019

  1. Large-Scale Forward Genetic Screening Analysis of Development of Hematopoiesis in Zebrafish

    Institute of Scientific and Technical Information of China (English)

    Kun Wang; Ning Ma; Yiyue Zhang; Wenqing Zhang; Zhibin Huang; Lingfeng Zhao; Wei Liu; Xiaohui Chen; Ping Meng; Qing Lin; Yali Chi; Mengchang Xu

    2012-01-01

    Zebrafish is a powerful model for the investigation of hematopoiesis.In order to isolate novel mutants with hematopoietic defects,large-scale mutagenesis screening of zebrafish was performed.By scoring specific hematopoietic markers,52 mutants were identified and then classified into four types based on specific phenotypic traits.Each mutant represented a putative mutation of a gene regulating the relevant aspect of hematopoiesis,including early macrophage development,early granulopoiesis,embryonic myelopoiesis,and definitive erythropoiesis/lymphopoiesis.Our method should be applicable for other types of genetic screening in zebrafish.In addition,further study of the mutants we identified may help to unveil the molecular basis of hematopoiesis.

  2. Genetic screens and functional genomics using CRISPR/Cas9 technology.

    Science.gov (United States)

    Hartenian, Ella; Doench, John G

    2015-04-01

    Functional genomics attempts to understand the genome by perturbing the flow of information from DNA to RNA to protein, in order to learn how gene dysfunction leads to disease. CRISPR/Cas9 technology is the newest tool in the geneticist's toolbox, allowing researchers to edit DNA with unprecedented ease, speed and accuracy, and representing a novel means to perform genome-wide genetic screens to discover gene function. In this review, we first summarize the discovery and characterization of CRISPR/Cas9, and then compare it to other genome engineering technologies. We discuss its initial use in screening applications, with a focus on optimizing on-target activity and minimizing off-target effects. Finally, we comment on future challenges and opportunities afforded by this technology.

  3. Genetic Screening for Bacterial Mutants in Liquid Growth Media By Fluorescence-Activated Cell Sorting

    Science.gov (United States)

    Abuaita, Basel H.; Withey, Jeffrey H.

    2010-01-01

    Many bacterial pathogens have defined in vitro virulence inducing conditions in liquid media which lead to production of virulence factors important during an infection. Identifying mutants that no longer respond to virulence inducing conditions will increase our understanding of bacterial pathogenesis. However, traditional genetic screens require growth on solid media. Bacteria in a single colony are in every phase of the growth curve, which complicates the analysis and make screens for growth phase-specific mutants problematic. Here, we utilize fluorescence-activated cell sorting in conjunction with random transposon mutagenesis to isolate bacteria grown in liquid media that are defective in virulence activation. This method permits analysis of an entire bacterial population in real time and selection of individual bacterial mutants with the desired gene expression profile at any time point after induction. We have used this method to identify Vibrio cholerae mutants defective in virulence induction. PMID:21094189

  4. Prevalence of Subclinical Caprine Mastitis in Bangladesh Based on Parallel Interpretation of Three Screening Tests

    OpenAIRE

    Aminul Islam; Abdus Samad; AKM Anisur Rahman

    2012-01-01

    The present study was conducted to determine the point prevalence of subclinical caprine mastitis based on parallel interpretation of results of three screening test. A total of 462 milk samples from 231 lactating Black Bengal goats comprises of three organized goat farms in Bangladesh were collected and were screened for subclinical mastitis using California Mastitis Test (CMT), White Side Test (WST) and Surf Field Mastitis Test (SFMT) simultaneously. Integrated test results yield the preval...

  5. Genetical studies of resistance to Phytophthora porri in Allium porrum, using a new early screening method.

    NARCIS (Netherlands)

    Smilde, W.D.; Nes, van M.; Reinink, K.; Kik, C.

    1997-01-01

    A new screening method was developed to evaluate resistance of leek (Allium porrum) to Phytophthora porri, based on inoculation by 24 h-immersion of leek plantlets in the 3–6 leaf stage in a suspension of ca. 100 zoospores.ml-1. The immersion test was used for identifying new sources of resistance a

  6. A Genetic Screen Identifies Hypothalamic Fgf15 as a Regulator of Glucagon Secretion

    Directory of Open Access Journals (Sweden)

    Alexandre Picard

    2016-11-01

    Full Text Available The counterregulatory response to hypoglycemia, which restores normal blood glucose levels to ensure sufficient provision of glucose to the brain, is critical for survival. To discover underlying brain regulatory systems, we performed a genetic screen in recombinant inbred mice for quantitative trait loci (QTL controlling glucagon secretion in response to neuroglucopenia. We identified a QTL on the distal part of chromosome 7 and combined this genetic information with transcriptomic analysis of hypothalami. This revealed Fgf15 as the strongest candidate to control the glucagon response. Fgf15 was expressed by neurons of the dorsomedial hypothalamus and the perifornical area. Intracerebroventricular injection of FGF19, the human ortholog of Fgf15, reduced activation by neuroglucopenia of dorsal vagal complex neurons, of the parasympathetic nerve, and lowered glucagon secretion. In contrast, silencing Fgf15 in the dorsomedial hypothalamus increased neuroglucopenia-induced glucagon secretion. These data identify hypothalamic Fgf15 as a regulator of glucagon secretion.

  7. Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis.

    Science.gov (United States)

    Liu, Qing; Huang, Yan; Zhang, Mingrong; Wang, Lian Qing; Guo, Xia Nan; Si, Nuo; Qi, Zhan; Zhou, Xiang Qin; Cui, Li-ying

    2015-04-01

    Tuberous sclerosis complex is an autosomal dominant disorder characterized by hamartomas in multiple organ systems. Mutations in the 2 large genes TSC1 and TSC2 have been demonstrated to be associated with tuberous sclerosis complex by various mutation screening methods. Targeted next-generation sequencing for genetic analysis is performed in the current study and is proved to be less cost, labor, and time consuming compared with Sanger sequencing. Two de novo and 1 recurrent TSC2 mutation in patients with tuberous sclerosis complex were revealed. Clinical details of patients were described and the underlying mechanism of the 2 novel TSC2 mutations, c.245G>A(p.W82X) and c.5405_5408dupACTT(p.P1803Lfs*25), were discussed. These results added to variability of TSC mutation spectrum and suggest that targeted next-generation sequencing could be the primary choice over Sanger sequencing in future tuberous sclerosis complex genetic counseling.

  8. The time is now to implement HPV testing for primary screening in low resource settings.

    Science.gov (United States)

    Kuhn, Louise; Denny, Lynette

    2017-05-01

    Unacceptable disparities in cervical cancer between richer and poorer countries persist and serve as reminders of gross disparities in access to and quality of screening services. HPV testing is well-suited to address some of the barriers to implementing adequate screening programs in low resource settings. HPV testing has considerably better sensitivity than cytology providing the same extent of safety with fewer rounds of screening. New robust HPV testing platforms require little to no skill by laboratory workers and some can be used at the point-of-care. This allows for a round of screening to be accomplished in one or two visits, reducing costs and the inevitable attrition that occurs when women need to be recalled to obtain their results. HPV testing is ideal for incorporating into the new "screen-and-treat" approaches designed to overcome limitations of conventional, multi-visit, colposcopy-based approaches to screening. Visual inspection with acetic acid (VIA) is the screening test that has been used most widely in screen-and-treat programs to date but the performance characteristics of this test are poor. HPV-based screen-and-treat is more effective in reducing disease in the population and reduces over-treatment intrinsic to this approach. HPV testing can be adapted or combined with other molecular tests to improve treatment algorithms. Infrastructure established to support VIA-based screen-and-treat can effectively incorporate HPV testing. We are poised at a critical juncture in public health history to implement HPV testing as part of primary screening and thereby improve women's health in low resource settings.

  9. Human genetics in rheumatoid arthritis guides a high-throughput drug screen of the CD40 signaling pathway.

    Directory of Open Access Journals (Sweden)

    Gang Li

    2013-05-01

    Full Text Available Although genetic and non-genetic studies in mouse and human implicate the CD40 pathway in rheumatoid arthritis (RA, there are no approved drugs that inhibit CD40 signaling for clinical care in RA or any other disease. Here, we sought to understand the biological consequences of a CD40 risk variant in RA discovered by a previous genome-wide association study (GWAS and to perform a high-throughput drug screen for modulators of CD40 signaling based on human genetic findings. First, we fine-map the CD40 risk locus in 7,222 seropositive RA patients and 15,870 controls, together with deep sequencing of CD40 coding exons in 500 RA cases and 650 controls, to identify a single SNP that explains the entire signal of association (rs4810485, P = 1.4×10(-9. Second, we demonstrate that subjects homozygous for the RA risk allele have ∼33% more CD40 on the surface of primary human CD19+ B lymphocytes than subjects homozygous for the non-risk allele (P = 10(-9, a finding corroborated by expression quantitative trait loci (eQTL analysis in peripheral blood mononuclear cells from 1,469 healthy control individuals. Third, we use retroviral shRNA infection to perturb the amount of CD40 on the surface of a human B lymphocyte cell line (BL2 and observe a direct correlation between amount of CD40 protein and phosphorylation of RelA (p65, a subunit of the NF-κB transcription factor. Finally, we develop a high-throughput NF-κB luciferase reporter assay in BL2 cells activated with trimerized CD40 ligand (tCD40L and conduct an HTS of 1,982 chemical compounds and FDA-approved drugs. After a series of counter-screens and testing in primary human CD19+ B cells, we identify 2 novel chemical inhibitors not previously implicated in inflammation or CD40-mediated NF-κB signaling. Our study demonstrates proof-of-concept that human genetics can be used to guide the development of phenotype-based, high-throughput small-molecule screens to identify potential novel

  10. Human Genetics in Rheumatoid Arthritis Guides a High-Throughput Drug Screen of the CD40 Signaling Pathway

    Science.gov (United States)

    Li, Gang; Diogo, Dorothée; Wu, Di; Spoonamore, Jim; Dancik, Vlado; Franke, Lude; Kurreeman, Fina; Rossin, Elizabeth J.; Duclos, Grant; Hartland, Cathy; Zhou, Xuezhong; Li, Kejie; Liu, Jun; De Jager, Philip L.; Siminovitch, Katherine A.; Zhernakova, Alexandra; Raychaudhuri, Soumya; Bowes, John; Eyre, Steve; Padyukov, Leonid; Gregersen, Peter K.; Worthington, Jane; Gupta, Namrata; Clemons, Paul A.; Stahl, Eli; Tolliday, Nicola; Plenge, Robert M.

    2013-01-01

    Although genetic and non-genetic studies in mouse and human implicate the CD40 pathway in rheumatoid arthritis (RA), there are no approved drugs that inhibit CD40 signaling for clinical care in RA or any other disease. Here, we sought to understand the biological consequences of a CD40 risk variant in RA discovered by a previous genome-wide association study (GWAS) and to perform a high-throughput drug screen for modulators of CD40 signaling based on human genetic findings. First, we fine-map the CD40 risk locus in 7,222 seropositive RA patients and 15,870 controls, together with deep sequencing of CD40 coding exons in 500 RA cases and 650 controls, to identify a single SNP that explains the entire signal of association (rs4810485, P = 1.4×10−9). Second, we demonstrate that subjects homozygous for the RA risk allele have ∼33% more CD40 on the surface of primary human CD19+ B lymphocytes than subjects homozygous for the non-risk allele (P = 10−9), a finding corroborated by expression quantitative trait loci (eQTL) analysis in peripheral blood mononuclear cells from 1,469 healthy control individuals. Third, we use retroviral shRNA infection to perturb the amount of CD40 on the surface of a human B lymphocyte cell line (BL2) and observe a direct correlation between amount of CD40 protein and phosphorylation of RelA (p65), a subunit of the NF-κB transcription factor. Finally, we develop a high-throughput NF-κB luciferase reporter assay in BL2 cells activated with trimerized CD40 ligand (tCD40L) and conduct an HTS of 1,982 chemical compounds and FDA–approved drugs. After a series of counter-screens and testing in primary human CD19+ B cells, we identify 2 novel chemical inhibitors not previously implicated in inflammation or CD40-mediated NF-κB signaling. Our study demonstrates proof-of-concept that human genetics can be used to guide the development of phenotype-based, high-throughput small-molecule screens to identify potential novel therapies in

  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, inclu

  12. Hypothesis testing in high-throughput screening for drug discovery.

    Science.gov (United States)

    Prummer, Michael

    2012-04-01

    Following the success of small-molecule high-throughput screening (HTS) in drug discovery, other large-scale screening techniques are currently revolutionizing the biological sciences. Powerful new statistical tools have been developed to analyze the vast amounts of data in DNA chip studies, but have not yet found their way into compound screening. In HTS, characterization of single-point hit lists is often done only in retrospect after the results of confirmation experiments are available. However, for prioritization, for optimal use of resources, for quality control, and for comparison of screens it would be extremely valuable to predict the rates of false positives and false negatives directly from the primary screening results. Making full use of the available information about compounds and controls contained in HTS results and replicated pilot runs, the Z score and from it the p value can be estimated for each measurement. Based on this consideration, we have applied the concept of p-value distribution analysis (PVDA), which was originally developed for gene expression studies, to HTS data. PVDA allowed prediction of all relevant error rates as well as the rate of true inactives, and excellent agreement with confirmation experiments was found.

  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. GOODNESS-OF-FIT TEST WITH GENETIC BACKGROUND

    Institute of Scientific and Technical Information of China (English)

    WU Jihua; XIE Minyu; PENG Rong; SUN Zhihua

    2005-01-01

    The chi-square test is a well-known goodness-of-fit test. It is available for arbitrary alternative hypothesis, particularly for a very general alternative. However, when the alternative is a "one-sided" hypothesis, which usually appears in genetic linkage analysis, the chi-square test does not use the information offered by the one-sided hypothesis.Therefore, it is possible that an appropriate one-sided test, which uses the information,will be better than the chi-square test. This paper gives such an efficient one-sided test.Monte Carlo simulation results show that it is more powerful than the chi-square test, and its power has been in creased by 30 percent as compared with that of the chi-square test inmost situations.

  16. Empirical Profiles of Academic Oral English Proficiency from an International Teaching Assistant Screening Test

    Science.gov (United States)

    Choi, Ikkyu

    2017-01-01

    Language proficiency constitutes a crucial barrier for prospective international teaching assistants (ITAs). Many US universities administer screening tests to ensure that ITAs possess the required academic oral English proficiency for their TA duties. Such ITA screening tests often elicit a sample of spoken English, which is evaluated in terms of…

  17. Pilot Testing a New Short Screen for the Assessment of Older Women's PTSD Symptomatology

    Science.gov (United States)

    Lagana, Luciana; Schuitevoerder, Sage

    2009-01-01

    It is difficult for busy health care providers to perform routine screening for older women's posttraumatic stress symptomatology. This difficulty is due, at least partially, to a paucity of instruments specifically tested on such a population. To address this issue, in this preliminary study we tested an abbreviated screen from the set of 20…

  18. Empirical Profiles of Academic Oral English Proficiency from an International Teaching Assistant Screening Test

    Science.gov (United States)

    Choi, Ikkyu

    2017-01-01

    Language proficiency constitutes a crucial barrier for prospective international teaching assistants (ITAs). Many US universities administer screening tests to ensure that ITAs possess the required academic oral English proficiency for their TA duties. Such ITA screening tests often elicit a sample of spoken English, which is evaluated in terms of…

  19. Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Ingles, Jodie; Sarina, Tanya; Yeates, Laura; Hunt, Lauren; Macciocca, Ivan; McCormack, Louise; Winship, Ingrid; McGaughran, Julie; Atherton, John; Semsarian, Christopher

    2013-12-01

    Genetic testing for hypertrophic cardiomyopathy has been commercially available for almost a decade; however, low mutation detection rate and cost have hindered uptake. This study sought to identify clinical variables that can predict probands with hypertrophic cardiomyopathy in whom a pathogenic mutation will be identified. Probands attending specialized cardiac genetic clinics across Australia over a 10-year period (2002-2011), who met clinical diagnostic criteria for hypertrophic cardiomyopathy and who underwent genetic testing for hypertrophic cardiomyopathy were included. Clinical, family history, and genotype information were collected. A total of 265 unrelated individuals with hypertrophic cardiomyopathy were included, with 138 (52%) having at least one mutation identified. The mutation detection rate was significantly higher in the probands with hypertrophic cardiomyopathy with an established family history of disease (72 vs. 29%, P < 0.0001), and a positive family history of sudden cardiac death further increased the detection rate (89 vs. 59%, P < 0.0001). Multivariate analysis identified female gender, increased left-ventricular wall thickness, family history of hypertrophic cardiomyopathy, and family history of sudden cardiac death as being associated with greatest chance of identifying a gene mutation. Multiple mutation carriers (n = 16, 6%) were more likely to have suffered an out-of-hospital cardiac arrest or sudden cardiac death (31 vs. 7%, P = 0.012). Family history is a key clinical predictor of a positive genetic diagnosis and has direct clinical relevance, particularly in the pretest genetic counseling setting.

  20. [Detection of cancer, sensitivity of the test and sensitivity of the screening program].

    Science.gov (United States)

    Launoy, G; Duffy, S W; Prevost, T C; Bouvier, V

    1998-11-01

    In assessment of screening for cancer, no distinction is usually made between the sensitivity of the screening test (St) and the sensitivity of the screening program (Sp). This paper was aimed to distinguish meaning, method for assessment and interest for each of them, and to determine their relationship. Sensitivity of the screening program can be directly assessed with data from on-going trials whilst assessment of sensitivity of screening test requires modelisation techniques, especially for assessing the mean duration of the preclinical phase of cancer. Assuming an exponential distribution of this duration, lambda as the time parameter, a mathematical relation between St and Sp is suggested as follows: [formula: see text] with r being the interval between two screening tests. The implementation of this equation with data from a mass-screening program for colorectal cancer in the department of Calvados allowed us to investigate the influence of the mean preclinical phase and the interval between two screening tests on the value of the sensitivity of the screening procedure. Such a modelisation could be useful in the development of a rational screening policy.

  1. Acceptance of Genetic Testing in a General Population: Age, Education and Gender Differences.

    Science.gov (United States)

    Aro, A. R.; Hakonen, A.; Hietala, M.; Lonnqvist, J.; Niemela, P.; Peltonen, L; Aula, P.

    1997-01-01

    Effects of age, education, and gender on acceptance of genetic testing were studied. Finnish participants responded to a questionnaire presenting reasons for and against genetic testing (N=1,967). Intentions to take genetic tests, worries, and experience of genetic test or hereditary disease were also assessed. Results are presented and discussed.…

  2. Ethical considerations of genetic presymptomatic testing for Huntington's disease.

    Science.gov (United States)

    Coustasse, Alberto; Pekar, Alicia; Sikula, Andrew; Lurie, Sue

    2009-01-01

    The aim of this literature review was to determine if there is adequate ethical justification for presymptomatic genetic testing on potential Huntington's disease patients. Huntington's disease is a neurological genetic disorder characterized by midlife onset which consists of cognitive, physical, and emotional deterioration. Although genetic testing has traditionally been guided by the principle of autonomy, severe psychological consequences such as depression, anxiety, survival guilt, and suicide have complicated the ethical issue of providing a presymptomatic yet definitive diagnosis for an incurable disease. An analysis of available articles yielded inconclusive findings, namely due to insufficient evidence, self-selection bias of test participants, or lack of a longitudinal design. Additional results indicated psychological distress is not solely associated with test result, but rather with individual characteristics including, but not limited to, psychological history, test motivation, level of preparation, social support, and age. In the interest of upholding the principles of autonomy, beneficence, nonmaleficence, and justice, it is recommended that medical professionals follow strict protocol, provide extensive counseling, and employ vigilance when assessing at-risk individuals for HD presymptomatic test eligibility to ensure psychological well-being.

  3. Participation in prenatal screening tests and intentions concerning selective termination in Finnish maternity care

    DEFF Research Database (Denmark)

    Santalahti, P; Hemminki, E; Aro, A R

    1999-01-01

    AIMS: The study examined how prenatal screening tests are presented to women, factors associated with women's participation in screening, their experience of decision-making and intentions concerning pregnancy termination, and hospital data on rates of selective terminations. METHODS: Questionnai...... in screening and with intentions about selective termination, women's perceptions of lives of the disabled should receive more attention in future studies.......AIMS: The study examined how prenatal screening tests are presented to women, factors associated with women's participation in screening, their experience of decision-making and intentions concerning pregnancy termination, and hospital data on rates of selective terminations. METHODS...... asking about selective terminations following detected fetal disorders were sent in 1993 to all public hospitals with obstetrics or gynaecology departments (response rate 100%). RESULTS: The serum screening test had usually been offered to women as a free choice, but for 22% of them it was presented...

  4. Abnormal ovarian cancer screening test result: women's informational, psychological and practical needs.

    Science.gov (United States)

    Ryan, Patricia Y; Graves, Kristi D; Pavlik, Edward J; Andrykowski, Michael A

    2007-01-01

    Considerable effort has been devoted to the identification of cost-effective approaches to screening for ovarian cancer (OC). Transvaginal ultrasound (TVS) is one such screening approach. Approximately 5-7% of routine TVS screening tests yield abnormal results. Some women experience significant distress after receipt of an abnormal TVS screening test. Four focus groups provided in-depth, qualitative data regarding the informational, psychological, and practical needs of women after the receipt of an abnormal TVS result. Through question and content analytic procedures, we identified four themes: anticipation, emotional response, role of the screening technician, and impact of prior cancer experiences. Results provide initial guidance toward development of interventions to promote adaptive responses after receipt of an abnormal cancer screening test result.

  5. Interlaboratory validation of quantitative duplex real-time PCR method for screening analysis of genetically modified maize.

    Science.gov (United States)

    Takabatake, Reona; Koiwa, Tomohiro; Kasahara, Masaki; Takashima, Kaori; Futo, Satoshi; Minegishi, Yasutaka; Akiyama, Hiroshi; Teshima, Reiko; Oguchi, Taichi; Mano, Junichi; Furui, Satoshi; Kitta, Kazumi

    2011-01-01

    To reduce the cost and time required to routinely perform the genetically modified organism (GMO) test, we developed a duplex quantitative real-time PCR method for a screening analysis simultaneously targeting an event-specific segment for GA21 and Cauliflower Mosaic Virus 35S promoter (P35S) segment [Oguchi et al., J. Food Hyg. Soc. Japan, 50, 117-125 (2009)]. To confirm the validity of the method, an interlaboratory collaborative study was conducted. In the collaborative study, conversion factors (Cfs), which are required to calculate the GMO amount (%), were first determined for two real-time PCR instruments, the ABI PRISM 7900HT and the ABI PRISM 7500. A blind test was then conducted. The limit of quantitation for both GA21 and P35S was estimated to be 0.5% or less. The trueness and precision were evaluated as the bias and reproducibility of the relative standard deviation (RSD(R)). The determined bias and RSD(R) were each less than 25%. We believe the developed method would be useful for the practical screening analysis of GM maize.

  6. Development and validation of duplex, triplex, and pentaplex real-time PCR screening assays for the detection of genetically modified organisms in food and feed.

    Science.gov (United States)

    Huber, Ingrid; Block, Annette; Sebah, Daniela; Debode, Frédéric; Morisset, Dany; Grohmann, Lutz; Berben, Gilbert; Stebih, Dejan; Milavec, Mojca; Zel, Jana; Busch, Ulrich

    2013-10-30

    Worldwide, qualitative methods based on PCR are most commonly used as screening tools for genetically modified material in food and feed. However, the increasing number and diversity of genetically modified organisms (GMO) require effective methods for simultaneously detecting several genetic elements marking the presence of transgenic events. Herein we describe the development and validation of a pentaplex, as well as complementary triplex and duplex real-time PCR assays, for the detection of the most common screening elements found in commercialized GMOs: P-35S, T-nos, ctp2-cp4-epsps, bar, and pat. The use of these screening assays allows the coverage of many GMO events globally approved for commercialization. Each multiplex real-time PCR assay shows high specificity and sensitivity with an absolute limit of detection below 20 copies for the targeted sequences. We demonstrate by intra- and interlaboratory tests that the assays are robust as well as cost- and time-effective for GMO screening if applied in routine GMO analysis.

  7. Psychological distress with direct-to-consumer genetic testing: a case report of an unexpected BRCA positive test result.

    Science.gov (United States)

    Dohany, Lindsay; Gustafson, Shanna; Ducaine, Whitney; Zakalik, Dana

    2012-06-01

    We report a case of a client who discovered she had a BRCA mutation following direct-to-consumer (DTC) genetic testing in the absence of genetic counseling. After testing she presented for genetic counseling with anxiety, distress, and a deficit of knowledge about what the DTC genetic testing revealed. Genetic counseling helped alleviate distress while empowering the client to apply the results of testing to improve medical management. Despite recent studies demonstrating no negative psychological impact of DTC genetic testing on the consumer, this case illustrates that significant psychological distress and confusion can occur as a result of DTC genetic testing for highly penetrant single gene disorders. Pre- and post-test genetic counseling in conjunction with DTC genetic testing may alleviate consumers' distress and empower clients to proactively utilize their result information.

  8. 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.

  9. Bias in estimating accuracy of a binary screening test with differential disease verification

    OpenAIRE

    Alonzo, Todd A.; Brinton, John T; Ringham, Brandy M; Glueck, Deborah H.

    2011-01-01

    Sensitivity, specificity, positive and negative predictive value are typically used to quantify the accuracy of a binary screening test. In some studies it may not be ethical or feasible to obtain definitive disease ascertainment for all subjects using a gold standard test. When a gold standard test cannot be used an imperfect reference test that is less than 100% sensitive and specific may be used instead. In breast cancer screening, for example, follow-up for cancer diagnosis is used as an ...

  10. Developmental Screenings in Rural Settings: A Comparison of the Child Development Review and the Denver II Developmental Screening Test.

    Science.gov (United States)

    Brachlow, Allison; Jordan, Augustus E.; Tervo, Raymond

    2001-01-01

    Two developmental screening tests were applied to 73 children, aged 1 month-6.7 years, in Sioux Falls and the Cheyenne River Reservation (South Dakota). There were no racial differences; compared to urban children, rural reservation children of any race were more likely to pass the Child Development Review and to fail the Denver II Developmental…

  11. Review:Aluminium tolerance in barley (Hordeum vulgare L.): physiological mechanisms, genetics and screening methods

    Institute of Scientific and Technical Information of China (English)

    WANG Jun-ping; RAMAN Harsh; ZHANG Guo-ping; MENDHAM Neville; ZHOU Mei-xue

    2006-01-01

    Aluminium (Al) toxicity is one of the major limiting factors for barley production on acid soils. It inhibits root cell division and elongation, thus reducing water and nutrient uptake, consequently resulting in poor plant growth and yield. Plants tolerate Al either through external resistance mechanisms, by which Al is excluded from plant tissues or internal tolerance mechanisms, conferring the ability of plants to tolerate Al ion in the plant symplasm where Al that has permeated the plasmalemma is sequestered or converted into an innocuous form. Barley is considered to be most sensitive to Al toxicity among cereal species. Al tolerance in barley has been assessed by several methods, such as nutrient solution culture, soil bioassay and field screening. Genetic and molecular mapping research has shown that Al tolerance in barley is controlled by a single locus which is located on chromosome 4H. Molecular markers linked with Al tolerance loci have been identified and validated in a range of diverse populations. This paper reviews the (1) screening methods for evaluating Al tolerance, (2) genetics and (3) mechanisms underlying Al tolerance in barley.

  12. Multiplicity of experimental approaches to therapy for genetic muscle diseases and necessity for population screening.

    Science.gov (United States)

    Laing, Nigel G

    2008-01-01

    Currently a multiplicity of experimental approaches to therapy for genetic muscle diseases is being investigated. These include replacement of the missing gene, manipulation of the gene message, repair of the mutation, upregulation of an alternative gene and pharmacological interventions targeting a number of systems. A number of these approaches are in current clinical trials. There is considerable anticipation that perhaps more than one of the approaches will finally prove of clinical benefit, but there are many voices of caution. No matter which approaches might ultimately prove effective, there is a consensus that for most benefit to the patients it will be necessary to start treatment as early as possible. A consensus is also developing that the only way to do this is to implement population-based newborn screening to identify affected children shortly after birth. Population-based newborn screening is currently practised in very few places in the world and it brings with it implications for prevention rather than cure of genetic muscle diseases.

  13. A forward genetic screen reveals essential and non-essential RNAi factors in Paramecium tetraurelia.

    Science.gov (United States)

    Marker, Simone; Carradec, Quentin; Tanty, Véronique; Arnaiz, Olivier; Meyer, Eric

    2014-06-01

    In most eukaryotes, small RNA-mediated gene silencing pathways form complex interacting networks. In the ciliate Paramecium tetraurelia, at least two RNA interference (RNAi) mechanisms coexist, involving distinct but overlapping sets of protein factors and producing different types of short interfering RNAs (siRNAs). One is specifically triggered by high-copy transgenes, and the other by feeding cells with double-stranded RNA (dsRNA)-producing bacteria. In this study, we designed a forward genetic screen for mutants deficient in dsRNA-induced silencing, and a powerful method to identify the relevant mutations by whole-genome sequencing. We present a set of 47 mutant alleles for five genes, revealing two previously unknown RNAi factors: a novel Paramecium-specific protein (Pds1) and a Cid1-like nucleotidyl transferase. Analyses of allelic diversity distinguish non-essential and essential genes and suggest that the screen is saturated for non-essential, single-copy genes. We show that non-essential genes are specifically involved in dsRNA-induced RNAi while essential ones are also involved in transgene-induced RNAi. One of the latter, the RNA-dependent RNA polymerase RDR2, is further shown to be required for all known types of siRNAs, as well as for sexual reproduction. These results open the way for the dissection of the genetic complexity, interconnection, mechanisms and natural functions of RNAi pathways in P. tetraurelia.

  14. Generation of Mouse Haploid Somatic Cells by Small Molecules for Genome-wide Genetic Screening

    Directory of Open Access Journals (Sweden)

    Zheng-Quan He

    2017-08-01

    Full Text Available The recent success of derivation of mammalian haploid embryonic stem cells (haESCs has provided a powerful tool for large-scale functional analysis of the mammalian genome. However, haESCs rapidly become diploidized after differentiation, posing challenges for genetic analysis. Here, we show that the spontaneous diploidization of haESCs happens in metaphase due to mitotic slippage. Diploidization can be suppressed by small-molecule-mediated inhibition of CDK1 and ROCK. Through ROCK inhibition, we can generate haploid somatic cells of all three germ layers from haESCs, including terminally differentiated neurons. Using piggyBac transposon-based insertional mutagenesis, we generated a haploid neural cell library harboring genome-wide mutations for genetic screening. As a proof of concept, we screened for Mn2+-mediated toxicity and identified the Park2 gene. Our findings expand the applications of mouse haploid cell technology to somatic cell types and may also shed light on the mechanisms of ploidy maintenance.

  15. Screening for gestational diabetes: examining a breakfast meal test

    African Journals Online (AJOL)

    Setting: Screening for gestational diabetes was performed in the High-Risk Antenatal Clinic at Tygerberg Academic ... on the changing diagnostic thresholds for gestational diabetes.1–4 ... (quantity and type) is the main determining factor of the post- .... In a 'designed' breakfast with 75 g of carbohydrate, the fat should.

  16. Alternative multi-user interaction screen: initial ergonomic test results

    CSIR Research Space (South Africa)

    Smith, Adrew C

    2010-05-01

    Full Text Available The authors investigate a potentially low-cost multi-user computer pointing interface. Given a choice of four targets arranged on the screen, the authors looked at what the user’s preference is in visiting the targets with a hand-held light source...

  17. Battelle Developmental Inventory and the Battelle Developmental Inventory Screening Test.

    Science.gov (United States)

    Sheehan, Robert; Snyder, Scott

    1990-01-01

    Two forms of the Battelle Developmental Inventory, intended for use with handicapped and nonhandicapped children ages 0-8, are examined. The instruments measure personal-social, adaptive, motor, communication, and cognitive skills, for use in screening, diagnosis, identification, assessment, and program evaluation. The paper discusses test…

  18. Predictive Validity Test of the Adolescent Domain Screening Inventory

    Science.gov (United States)

    Corrigan, Matthew J.

    2014-01-01

    Objective: This study assesses the Adolescent Domain Screening Inventory (ADSI) to identify adolescents at high risk of substance use. Method: The sampling frame consisted of 26,781 surveys, and a secondary analysis was conducted. A random 25% sample was used, leaving 6,661 cases. Binary logistic regressions were run to determine the predictive…

  19. The Effects of New Screening Tests in the Dutch Cervical Cancer Screening Programme

    NARCIS (Netherlands)

    K. Rozemeijer (Kirsten)

    2016-01-01

    markdownabstractCervical cancer is the fourth most common cancer in women all over the world, mainly affecting young women. As cervical cancer is easy to prevent by early detection and treatment of the disease, screening was introduced in the Netherlands in the 1970s. The number of cervical cancer c

  20. The Effects of New Screening Tests in the Dutch Cervical Cancer Screening Programme

    NARCIS (Netherlands)

    K. Rozemeijer (Kirsten)

    2016-01-01

    markdownabstractCervical cancer is the fourth most common cancer in women all over the world, mainly affecting young women. As cervical cancer is easy to prevent by early detection and treatment of the disease, screening was introduced in the Netherlands in the 1970s. The number of cervical cancer c

  1. The Effects of New Screening Tests in the Dutch Cervical Cancer Screening Programme

    NARCIS (Netherlands)

    K. Rozemeijer (Kirsten)

    2016-01-01

    markdownabstractCervical cancer is the fourth most common cancer in women all over the world, mainly affecting young women. As cervical cancer is easy to prevent by early detection and treatment of the disease, screening was introduced in the Netherlands in the 1970s. The number of cervical cancer

  2. The Application of Eddy Current Transducer for Testing Movement Locus of Shaker Screen

    Institute of Scientific and Technical Information of China (English)

    Zhu Pingyu; Lao Chuanjun; Zhang Wei; Li Xuejun

    2007-01-01

    Shaker screen is one of important equipments in the industry of oil, metallurgy, coal and timbering. The movement locus of shaker screen affects the capacity and efficiency of shaker screen to split the solid particle from crude ore directly .To test movement of shaker locus, two eddy current transducers are employed. A discussion of the usage of these eddy current transducer to test and acceleration sensors will be made. The experiment results from a real elliptic shaker screen have good agree with the design requirements.

  3. A high-throughput strategy for screening of bacterial artificial chromosome libraries and anchoring of clones on a genetic map constructed with single nucleotide polymorphisms

    Directory of Open Access Journals (Sweden)

    Deal Karin R

    2009-01-01

    Full Text Available Abstract Background Current techniques of screening bacterial artificial chromosome (BAC libraries for molecular markers during the construction of physical maps are slow, laborious and often assign multiple BAC contigs to a single locus on a genetic map. These limitations are the principal impediment in the construction of physical maps of large eukaryotic genomes. It is hypothesized that this impediment can be overcome by screening multidimensional pools of BAC clones using the highly parallel Illumina GoldenGate™ assay. Results To test the efficacy of the Golden Gate assay in BAC library screening, multidimensional pools involving 302976 Aegilops tauschii BAC clones were genotyped for the presence/absence of specific gene sequences with multiplexed Illumina GoldenGate oligonucleotide assays previously used to place single nucleotide polymorphisms on an Ae. tauschii genetic map. Of 1384 allele-informative oligonucleotide assays, 87.6% successfully clustered BAC pools into those positive for a BAC clone harboring a specific gene locus and those negative for it. The location of the positive BAC clones within contigs assembled from 199190 fingerprinted Ae. tauschii BAC clones was used to evaluate the precision of anchoring of BAC clones and contigs on the Ae. tauschii genetic map. For 41 (95% assays, positive BAC clones were neighbors in single contigs. Those contigs could be unequivocally assigned to loci on the genetic map. For two (5% assays, positive clones were in two different contigs and the relationships of these contigs to loci on the Ae. tauschii genetic map were equivocal. Screening of BAC libraries with a simple five-dimensional BAC pooling strategy was evaluated and shown to allow direct detection of positive BAC clones without the need for manual deconvolution of BAC clone pools. Conclusion The highly parallel Illumina oligonucleotide assay is shown here to be an efficient tool for screening BAC libraries and a strategy for high

  4. Diagnosis of Wilson disease in young children: molecular genetic testing and a paradigm shift from the laboratory diagnosis.

    Science.gov (United States)

    Seo, Jeong Kee

    2012-12-01

    Wilson disease (WD) is an autosomal recessive disorder of copper metabolism that results in accumulation of copper primarily in the liver, brain and cornea. Mutations in the WD gene, ATP7B, cause failure of copper excretion from hepatocyte into bile and a defective synthesis of ceruloplasmin. More than 500 mutations are now recognized, scattered throughout the ATP7B gene. Since WD has protean clinical presentations, awareness of WD in clinical practice is important for the early diagnosis and prevention of accumulated copper toxicity. Molecular genetic testing is playing an increasingly important role in the diagnosis of WD in uncertain cases and family screening. Siblings should be screened for WD once an index case has been diagnosed. Discrimination of heterozygotes from asymptomatic patients is essential to avoid inappropriate lifelong therapy for heterozygotes. Genetic testing, either by haplotype analysis or by mutation analysis, is the only definite solution for differentiating heterozygote carriers from affected asymptomatic patients. Routine genetic testing, because of the multitude of documented mutations, has been thought to be impractical until recently. However, genetic testing is now being more actively applied to the diagnosis of WD, particularly in young children in whom conventional biochemical diagnosis has much limitation and only genetic testing is able to confirm WD. Because advancement of modern biochemical technology now allows more rapid, easier, and less expensive mutation detection, direct DNA sequencing could be actively considered as the primary mode of diagnostic investigation rather than a supplementary test to the conventional biochemical tests. This review will focus on the recent advancement of molecular genetics and genetic diagnosis of WD in very young children on the basis of research data of the Seoul National University Children's Hospital and recent literature.

  5. Genetic testing in nephrotic syndrome--challenges and opportunities.

    Science.gov (United States)

    Gbadegesin, Rasheed A; Winn, Michelle P; Smoyer, William E

    2013-03-01

    Monogenic nephrotic syndrome (nephrotic syndrome caused by a single gene defect) is responsible for only a small percentage of cases of nephrotic syndrome, but information from studies of the unique cohort of patients with this form of the disease has dramatically improved our understanding of the disease pathogenesis. The use of genetic testing in the management of children and adults with nephrotic syndrome poses unique challenges for clinicians in terms of who to test and how to use the information obtained from testing in the clinical setting. In our view, not enough data exist at present to justify the routine genetic testing of all patients with nephrotic syndrome. Testing is warranted, however, in patients with congenital nephrotic syndrome (onset at 0-3 months), infantile nephrotic syndrome (onset at 3-12 months), a family history of nephrotic syndrome, and those in whom nephrotic syndrome is associated with other congenital malformations. The family and/or the patient should be given complete and unbiased information on the potential benefits and risks associated with therapy, including the reported outcomes of treatment in patients with similar mutations. Based on the data available in the literature so far, intensive immunosuppressive treatment is probably not indicated in monogenic nephrotic syndrome if complete or partial remission has not been achieved within 6 weeks of starting treatment. We advocate that family members of individuals with genetic forms of nephrotic syndrome undergo routine genetic testing prior to living-related kidney transplantation. Prospective, multicentre studies are needed to more completely determine the burden of disease caused by monogenic nephrotic syndrome, and randomized controlled trials are needed to clarify the presence or absence of clinical responses of monogenic nephrotic syndrome to available therapies.

  6. Genetic citizenship: DNA testing and the Israeli Law of Return.

    Science.gov (United States)

    McGonigle, Ian V; Herman, Lauren W

    2015-07-01

    The Israeli State recently announced that it may begin to use genetic tests to determine whether potential immigrants are Jewish or not. This development would demand a rethinking of Israeli law on the issue of the definition of Jewishness. In this article, we discuss the historical and legal context of secular and religious definitions of Jewishness and rights to immigration in the State of Israel. We give a brief overview of different ways in which genes have been regarded as Jewish, and we discuss the relationship between this new use of genetics and the society with which it is co-produced. In conclusion, we raise several questions about future potential impacts of Jewish genetics on Israeli law and society.

  7. Seedling test and genetic analysis of white poplar hybrid clones

    Institute of Scientific and Technical Information of China (English)

    LI Bo; JIANG Xi-bing; ZHANG You-hui; ZHANG Zhi-yi; LI Shan-wen; AN Xin-min

    2008-01-01

    Cross breeding strategies are very efficient for gaining new and superior genotypes. Ninety-eight new white poplar hybrid clones produced from 12 cross combinations within the Section Leuce Duby were studied using genetic analysis and seedling tests. We exploited the wide variation that exists in this population and found that the differences among diameter at breast height (DBH), root collar diameter (RCD) and height (H) were statistically extremely significant. The repeatability of clones of these measured traits ranged from 0.947-0.967, which indicated that these Waits were strongly controlled by genetic factors. Based on multiple comparisons, a total of 25 clones showed better performance in growth than the conlrol cultivar. These 25 clones were from six different cross combinations, which can guarantee a larger genetic background for future new clone promotion projects. This study provides a simple overview on these clones and can guide us to carry out subsequent selection plans.

  8. Flow Cytometry Enables Multiplexed Measurements of Genetically Encoded Intramolecular FRET Sensors Suitable for Screening.

    Science.gov (United States)

    Doucette, Jaimee; Zhao, Ziyan; Geyer, Rory J; Barra, Melanie M; Balunas, Marcy J; Zweifach, Adam

    2016-07-01

    Genetically encoded sensors based on intramolecular FRET between CFP and YFP are used extensively in cell biology research. Flow cytometry has been shown to offer a means to measure CFP-YFP FRET; we suspected it would provide a unique way to conduct multiplexed measurements from cells expressing different FRET sensors, which is difficult to do with microscopy, and that this could be used for screening. We confirmed that flow cytometry accurately measures FRET signals using cells transiently transfected with an ERK activity reporter, comparing responses measured with imaging and cytometry. We created polyclonal long-term transfectant lines, each expressing a different intramolecular FRET sensor, and devised a way to bar-code four distinct populations of cells. We demonstrated the feasibility of multiplexed measurements and determined that robust multiplexed measurements can be conducted in plate format. To validate the suitability of the method for screening, we measured responses from a plate of bacterial extracts that in unrelated experiments we had determined contained the protein kinase C (PKC)-activating compound teleocidin A-1. The multiplexed assay correctly identifying the teleocidin A-1-containing well. We propose that multiplexed cytometric FRET measurements will be useful for analyzing cellular function and for screening compound collections.

  9. Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients.

    Science.gov (United States)

    Alavi, Afagh; Nafissi, Shahriar; Rohani, Mohammad; Zamani, Babak; Sedighi, Behnaz; Shamshiri, Hosein; Fan, Jian-Bing; Ronaghi, Mostafa; Elahi, Elahe

    2013-05-01

    Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease, and the most common in European populations. Results of genetic analysis and mutation screening of SOD1 in a cohort of 60 Iranian ALS patients are here reported. Initially, linkage analysis in 4 families identified a disease-linked locus that included the known ALS gene, SOD1. Screening of SOD1 identified homozygous p.Asp90Ala causing mutations in all the linked families. Haplotype analysis suggests that the p.Asp90Ala alleles in the Iranian patients might share a common founder with the renowned Scandinavian recessive p.Asp90Ala allele. Subsequent screening in all the patients resulted in identification of 3 other mutations in SOD1, including p.Leu84Phe in the homozygous state. Phenotypic features of the mutation-bearing patients are presented. SOD1 mutations were found in 11.7% of the cohort, 38.5% of the familial ALS probands, and 4.25% of the sporadic ALS cases. SOD1 mutations contribute significantly to ALS among Iranians.

  10. New multiplex PCR methods for rapid screening of genetically modified organisms in foods

    Directory of Open Access Journals (Sweden)

    Nelly eDatukishvili

    2015-07-01

    Full Text Available We present novel multiplex PCR methods for rapid and reliable screening of genetically modified organisms (GMOs. New designed PCR primers targeting four frequently used GMO specific sequences permitted identification of new DNA markers, in particular 141 bp fragment of cauliflower mosaic virus (CaMV 35S promoter, 224 bp fragment of Agrobacterium tumefaciens nopaline synthase (NOS terminator, 256 bp fragment of 5-enolppyruvylshikimate-phosphate synthase (epsps gene and 258 bp fragment of Cry1Ab delta-endotoxin (cry1Ab gene for GMO screening. The certified reference materials containing Roundup Ready soybean (RRS and maize MON 810 were applied for the development and optimization of uniplex and multiplex PCR systems. Evaluation of amplification products by agarose gel electrophoresis using negative and positive controls confirmed high specificity and sensitivity at 0.1% GMO for both RRS and MON 810. The fourplex PCR was developed and optimized that allows simultaneous detection of three common transgenic elements, such as: CaMV 35S promoter, NOS terminator, epsps gene together with soybean-specific lectin gene. The triplex PCR developed enables simultaneous identification of transgenic elements, such as: 35S promoter and cry1Ab gene together with maize zein gene. The analysis of different processed foods demonstrated that multiplex PCR methods developed in this study are useful for accurate and fast screening of GM food products.

  11. New multiplex PCR methods for rapid screening of genetically modified organisms in foods.

    Science.gov (United States)

    Datukishvili, Nelly; Kutateladze, Tamara; Gabriadze, Inga; Bitskinashvili, Kakha; Vishnepolsky, Boris

    2015-01-01

    We present novel multiplex PCR methods for rapid and reliable screening of genetically modified organisms (GMOs). New designed PCR primers targeting four frequently used GMO specific sequences permitted identification of new DNA markers, in particular 141 bp fragment of cauliflower mosaic virus (CaMV) 35S promoter, 224 bp fragment of Agrobacterium tumefaciens nopaline synthase (NOS) terminator, 256 bp fragment of 5-enolppyruvylshikimate-phosphate synthase (epsps) gene and 258 bp fragment of Cry1Ab delta-endotoxin (cry1Ab) gene for GMO screening. The certified reference materials containing Roundup Ready soybean (RRS) and maize MON 810 were applied for the development and optimization of uniplex and multiplex PCR systems. Evaluation of amplification products by agarose gel electrophoresis using negative and positive controls confirmed high specificity and sensitivity at 0.1% GMO for both RRS and MON 810. The fourplex PCR was developed and optimized that allows simultaneous detection of three common transgenic elements, such as: CaMV 35S promoter, NOS terminator, epsps gene together with soybean-specific lectin gene. The triplex PCR developed enables simultaneous identification of transgenic elements, such as: 35S promoter and cry1Ab gene together with maize zein gene. The analysis of different processed foods demonstrated that multiplex PCR methods developed in this study are useful for accurate and fast screening of GM food products.

  12. Cost-effectiveness of a genetic test for breast cancer risk.

    Science.gov (United States)

    Folse, Henry J; Green, Linda E; Kress, Andrea; Allman, Richard; Dinh, Tuan A

    2013-12-01

    Genetic testing of seven single-nucleotide polymorphisms (7SNP) can improve estimates of risk of breast cancer relative to the Gail risk test alone, for the purpose of recommending MRI screening for women at high risk. A simulation of breast cancer and health care processes was used to conduct a virtual trial comparing the use of the 7SNP test with the Gail risk test to categorize patients by risk. Average-risk patients received annual mammogram, whereas high-risk patients received annual MRI. Cancer incidence was based on Surveillance, Epidemiology, and End Results data and validated to Cancer Prevention Study II Nutrition Cohort data. Risk factor values were drawn from National Health and Nutrition Examination Survey (NHANES-4) and Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial data. Mammogram characteristics were derived from Breast Cancer Surveillance Consortium data. The test was most cost-effective when given to patients at an intermediate lifetime risk of breast cancer. For patients with a risk of 16% to 28%, it resulted in a 1.91% reduction in cancer deaths, saving 0.005 quality-adjusted life years per person at a cost of $163,264 per QALY. These results were sensitive to the age at which the test is given, the discount rate, and the costs of the genetic test and MRI. The cost effectiveness of using the 7SNP test for patients with intermediate Gail risk is similar to that of other recommended strategies, including annual MRI for patients with a lifetime risk greater than 20% or BRCA1/2 mutations.

  13. A genetic screen for components of the mammalian RNA interference pathway in Bloom-deficient mouse embryonic stem cells.

    Science.gov (United States)

    Trombly, Melanie I; Su, Hong; Wang, Xiaozhong

    2009-03-01

    Genetic screens performed in model organisms have helped identify key components of the RNA interference (RNAi) pathway. Recessive genetic screens have recently become feasible through the use of mouse embryonic stem (ES) cells that are Bloom's syndrome protein (Blm) deficient. Here, we developed and performed a recessive genetic screen to identify components of the mammalian RNAi pathway in Blm-deficient ES cells. Genome-wide mutagenesis using a retroviral gene trap strategy resulted in the isolation of putative homozygous RNAi mutant cells. Candidate clones were confirmed by an independent RNAi-based reporter assay and the causative gene trap integration site was identified using molecular techniques. Our screen identified multiple mutant cell lines of Argonaute 2 (Ago2), a known essential component of the RNAi pathway. This result demonstrates that true RNAi components can be isolated by this screening strategy. Furthermore, Ago2 homozygous mutant ES cells provide a null genetic background to perform mutational analyses of the Ago2 protein. Using genetic rescue, we resolve an important controversy regarding the role of two phenylalanine residues in Ago2 activity.

  14. Skin test screening for tuberculosis among healthcare students: a retrospective cohort study.

    Science.gov (United States)

    Orsi, G B; Antoniozzi, T; Ortis, M; Pippia, V; Sernia, S

    2013-01-01

    Aim of the study was to document the baseline prevalence of healthcare students positive to tuberculosis skin tests screening. Between 2008-2010, students admitted to healthcare courses (medicine, nursing, physiotherapy...) at Sapienza university in Rome were requested to carry out personal tuberculosis skin test screening in their local district or town healthcare centers according to the italian guidelines. At the time interferongamma release assays (IGRA) testing was not adopted for large screening. Demographic characteristics, tuberculosis screening results, healthcare course, tuberculosis vaccination status were recorded. A cohort of 2,500 university healthcare students were screened by several Italian Hygiene Offices using tuberculin skin test and Tine test. Overall 131 (5.2%) healthcare students resulted positive to some tuberculosis skin test screening. Tuberculin skin test was carried out on 2,029 students (81.2%) and conversion was observed in 107 (5.3%), whereas Tine test was carried out on 498 students (19.9%) and positive result was observed in 24 (4.8%). The Tine test use and non optimal (skin tests was related mostly to some healthcare centers in Lazio and Campania regions. Previous BCG vaccination was reported by 27 healthcare students (1.1%), and only two of them showed tuberculin skin test conversion, whereas the large majority 105 (98.1%) of Mantoux positives had not been vaccinated. In univariate analysis positive tuberculin skin test was associated to growing students age (29.2 ± 10.3 vs. 23.1 ± 6.0; pskin test was recorded in 25 (20.3%) foreign and 82 (4.3%) italian students showing a higher risk for International students (RR 4.72; 95%CI 3.14 - 7.11; pskin test rate for tuberculosis among healthcare students in their first university year, showing a higher risk for the international group and revealed some problematic screening practices which need to be improved in the future screening programs.

  15. Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease

    Directory of Open Access Journals (Sweden)

    Chávez Mireya

    2010-01-01

    Full Text Available Abstract Background von Hippel-Lindau (VHL disease is a hereditary cancer syndrome caused by germline mutations in the VHL gene. Patients have significant morbidity and mortality secondary to vascular tumors. Disease management is centered on tumor surveillance that allows early detection and treatment. Presymptomatic genetic testing is therefore recommended, including in at-risk children. Methods We tested 17 families (n = 109 individuals for VHL mutations including 43 children under the age of 18. Personalized genetic counseling was provided pre and post-test and the individuals undergoing presymptomatic testing filled out questionnaires gathering socio-demographic, psychological and psychiatric data. Mutation analysis was performed by direct sequencing of the VHL gene. Mutation-carriers were screened for VHL disease-related tumors and were offered follow-up annual examinations. Results Mutations were identified in 36 patients, 17 of whom were asymptomatic. In the initial screening, we identified at least one tumor in five of 17 previously asymptomatic individuals. At the end of five years, only 38.9% of the mutation-carriers continued participating in our tumor surveillance program. During this time, 14 mutation carriers developed a total of 32 new tumors, three of whom died of complications. Gender, education, income, marital status and religiosity were not found to be associated with adherence to the surveillance protocol. Follow-up adherence was also independent of pre-test depression, severity of disease, or number of affected family members. The only statistically significant predictor of adherence was being symptomatic at the time of testing (OR = 5; 95% CI 1.2 - 20.3; p = 0.02. Pre-test anxiety was more commonly observed in patients that discontinued follow-up (64.7% vs. 35.3%; p = 0.01. Conclusions The high initial uptake rate of genetic testing for VHL disease, including in minors, allowed the discontinuation of unnecessary screening

  16. Identification and Validation of a Brief Test Anxiety Screening Tool

    Science.gov (United States)

    von der Embse, Nathaniel P.; Kilgus, Stephen P.; Segool, Natasha; Putwain, Dave

    2013-01-01

    The implementation of test-based accountability policies around the world has increased the pressure placed on students to perform well on state achievement tests. Educational researchers have begun taking a closer look at the reciprocal effects of test anxiety and high-stakes testing. However, existing test anxiety assessments lack efficiency and…

  17. Mucopolysaccharidosis VI in cats - clarification regarding genetic testing.

    Science.gov (United States)

    Lyons, Leslie A; Grahn, Robert A; Genova, Francesca; Beccaglia, Michela; Hopwood, John J; Longeri, Maria

    2016-07-02

    The release of new DNA-based diagnostic tools has increased tremendously in companion animals. Over 70 different DNA variants are now known for the cat, including DNA variants in disease-associated genes and genes causing aesthetically interesting traits. The impact genetic tests have on animal breeding and health management is significant because of the ability to control the breeding of domestic cats, especially breed cats. If used properly, genetic testing can prevent the production of diseased animals, causing the reduction of the frequency of the causal variant in the population, and, potentially, the eventual eradication of the disease. However, testing of some identified DNA variants may be unwarranted and cause undo strife within the cat breeding community and unnecessary reduction of gene pools and availability of breeding animals. Testing for mucopolysaccharidosis Type VI (MPS VI) in cats, specifically the genetic testing of the L476P (c.1427T>C) and the D520N (c.1558G>A) variants in arylsulfatase B (ARSB), has come under scrutiny. No health problems are associated with the D520N (c.1558G>A) variant, however, breeders that obtain positive results for this variant are speculating as to possible correlation with health concerns. Birman cats already have a markedly reduced gene pool and have a high frequency of the MPS VI D520N variant. Further reduction of the gene pool by eliminating cats that are heterozygous or homozygous for only the MPS VI D520N variant could lead to more inbreeding depression effects on the breed population. Herein is debated the genetic testing of the MPS VI D520N variant in cats. Surveys from different laboratories suggest the L476P (c.1427T>C) disease-associated variant should be monitored in the cat breed populations, particularly breeds with Siamese derivations and outcrosses. However, the D520N has no evidence of association with disease in cats and testing is not recommended in the absence of L476P genotyping. Selection

  18. 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.

  19. Functional Genetic Screen to Identify Interneurons Governing Behaviorally Distinct Aspects of Drosophila Larval Motor Programs

    Directory of Open Access Journals (Sweden)

    Matt Q. Clark

    2016-07-01

    Full Text Available Drosophila larval crawling is an attractive system to study rhythmic motor output at the level of animal behavior. Larval crawling consists of waves of muscle contractions generating forward or reverse locomotion. In addition, larvae undergo additional behaviors, including head casts, turning, and feeding. It is likely that some neurons (e.g., motor neurons are used in all these behaviors, but the identity (or even existence of neurons dedicated to specific aspects of behavior is unclear. To identify neurons that regulate specific aspects of larval locomotion, we performed a genetic screen to identify neurons that, when activated, could elicit distinct motor programs. We used 165 Janelia CRM-Gal4 lines—chosen for sparse neuronal expression—to ectopically express the warmth-inducible neuronal activator TrpA1, and screened for locomotor defects. The primary screen measured forward locomotion velocity, and we identified 63 lines that had locomotion velocities significantly slower than controls following TrpA1 activation (28°. A secondary screen was performed on these lines, revealing multiple discrete behavioral phenotypes, including slow forward locomotion, excessive reverse locomotion, excessive turning, excessive feeding, immobile, rigid paralysis, and delayed paralysis. While many of the Gal4 lines had motor, sensory, or muscle expression that may account for some or all of the phenotype, some lines showed specific expression in a sparse pattern of interneurons. Our results show that distinct motor programs utilize distinct subsets of interneurons, and provide an entry point for characterizing interneurons governing different elements of the larval motor program.

  20. Genetic screening and evaluation for chromosomal abnormalities of infertile males in Jilin Province, China.

    Science.gov (United States)

    Zhang, M; Fan, H-T; Zhang, Q-S; Wang, X-Y; Yang, X; Tian, W-J; Li, R-W

    2015-12-08

    Chromosomal abnormality is the most common genetic cause of male infertility, particularly in cases of azoospermia, oligozoospermia, and recurrent spontaneous abortion. Chromosomal rearrangement may interrupt an important gene or exert position effects. The functionality of genes at specific breakpoints, perhaps with a specific role in spermatogenesis, may be altered by such rearrangements. Structural chromosome abnormalities are furthermore known to increase the risk of pregnancy loss. In this study, we aimed to assess chromosomal defects in infertile men from Jilin Province, China, by genetic screening and to evaluate the relationship between structural chromosome abnormalities and male infertility. The prevalence of chromosomal abnormalities among the study participants (receiving genetic counseling in Jilin Province, China) was 10.55%. The most common chromosome abnormality was Klinefelter syndrome, and the study findings suggested that azoospermia and oligospermia may result from structural chromosomal abnormalities. Chromosome 1 was shown to be most commonly involved in male infertility and balanced chromosomal translocation was identified as one of the causes of recurrent spontaneous abortion. Chromosomes 4, 7, and 10 were the most commonly involved chromosomes in male partners of women experiencing repeated abortion.

  1. Development and Testing of a 3-Item Screening Tool for Problematic Internet Use.

    Science.gov (United States)

    Moreno, Megan A; Arseniev-Koehler, Alina; Selkie, Ellen

    2016-09-01

    To develop and validate the Problematic and Risky Internet Use Screening Scale (PRIUSS)-3 screening scale, a short scale to screen for Problematic Internet Use. This scale development study applied standard processes using separate samples for training and testing datasets. We recruited participants from schools and colleges in 6 states and 2 countries. We selected 3 initial versions of a PRIUSS-3 using correlation to the PRIUSS-18 score. We evaluated these 3 potential screening scales for conceptual coherence, factor loading, sensitivity, and specificity. We selected a 3-item screening tool and evaluated it in 2 separate testing sets using receiver operating curves. Our study sample included 1079 adolescents and young adults. The PRIUSS-3 included items addressing anxiety when away from the Internet, loss of motivation when on the Internet, and feelings of withdrawal when away from the Internet. This screening scale had a sensitivity of 100% and specificity of 69%. A score of ≥3 on the PRIUSS-3 was the threshold to follow up with the PRIUSS-18. Similar to other clinical screening tools, the PRIUSS-3 can be administered quickly in a clinical or research setting. Positive screens should be followed by administering the full PRIUSS-18. Given the pervasive presence of the Internet in youth's lives, screening and counseling for Problematic Internet Use can be facilitated by use of this validated screening tool. Copyright © 2016. Published by Elsevier Inc.

  2. HPV testing for cervical cancer screening appears more cost-effective than Papanicolau cytology in Mexico.

    Science.gov (United States)

    Flores, Yvonne N; Bishai, David M; Lorincz, Attila; Shah, Keerti V; Lazcano-Ponce, Eduardo; Hernández, Mauricio; Granados-García, Víctor; Pérez, Ruth; Salmerón, Jorge

    2011-02-01

    To determine the incremental costs and effects of different HPV testing strategies, when compared to Papanicolau cytology (Pap), for cervical cancer screening in Mexico. A cost-effectiveness analysis (CEA) examined the specific costs and health outcomes associated with (1) no screening; (2) only the Pap test; (3) only self-administered HPV; (4) only clinician administered HPV; and (5) clinician administered HPV plus the Pap test. The costs of self- and clinician-HPV testing, as well as with the Pap test, were identified and quantified. Costs were reported in 2008 US dollars. The health outcome associated with these screening strategies was defined as the number of high-grade cervical intraepithelial neoplasia or cervical cancer cases detected. This CEA was performed using the perspective of the Mexican Institute of Social Security (IMSS) in Morelos, Mexico. Screening women between the ages of 30-80 for cervical cancer using clinical-HPV testing or the combination of clinical-HPV testing, and the Pap is always more cost-effective than using the Pap test alone. This CEA indicates that HPV testing could be a cost-effective screening alternative for a large health delivery organization such as IMSS. These results may help policy-makers implement HPV testing as part of the IMSS cervical cancer screening program.

  3. Universal screening test based on analysis of circulating organ-enriched microRNAs: a novel approach to diagnostic screening.

    Science.gov (United States)

    Sheinerman, Kira S; Umansky, Samuil

    2015-03-01

    Early disease detection leads to more effective and cost-efficient treatment. It is especially important for cancer and neurodegenerative diseases, because progression of these pathologies leads to significant and frequently irreversible changes in underlying pathophysiological processes. At the same time, the development of specific screening tests for detection of each of the hundreds of human pathologies in asymptomatic stage may be impractical. Here, we discuss a recently proposed concept: the development of minimally invasive Universal Screening Test (UST) based on analysis of organ-enriched microRNAs in plasma and other bodily fluids. The UST is designed to detect the presence of a pathology in particular organ systems, organs, tissues or cell types without diagnosing a specific disease. Once the pathology is detected, more specific, and if necessary invasive and expensive, tests can be administered to precisely define the nature of the disease. Here, we discuss recent studies and analyze the data supporting the UST approach.

  4. The Statistical Precision of Medical Screening Procedures: Application to Polygraph and AIDS Antibodies Test Data

    OpenAIRE

    Gastwirth, Joseph L.

    1987-01-01

    The increased use of screening tests for drug use or antibodies to the HTLV-III (AIDS) virus, as well as pre-employment polygraph testing, has raised concerns about the reliability of the results of these procedures. This paper reviews the mathematical model underlying the analysis of data from screening tests. In addition to the known formulas for the proportion of positive (negative) classifications that are correct, we provide a large sample approximation to their standard errors. The resu...

  5. 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

  6. Epidemiology and Genetic Epidemiology of the Liver Function Test Proteins

    Science.gov (United States)

    Rahmioglu, Nilufer; Andrew, Toby; Cherkas, Lynn; Surdulescu, Gabriela; Swaminathan, Ramasamyiyer; Spector, Tim; Ahmadi, Kourosh R.

    2009-01-01

    Background The liver function test (LFT) is among the most commonly used clinical investigations to assess hepatic function, severity of liver diseases and the effect of therapies, as well as to detect drug-induced liver injury (DILI). Aims To determine the relative contribution of genetic and environmental factors as well as test and quantify the effects of sex, age, BMI and alcohol consumption to variation in liver function test proteins - including alanine amino transaminase (ALT), Albumin, gamma glutamyl transpeptidase (GGT), total bilirubin, total protein, total globulin, aspartate transaminase (AST), and alkaline phosphotase (ALP) - using the classical twin model. Methods Blood samples were collected from a total of 5380 twin pairs from the TwinsUK registry. We measured the expression levels of major proteins associated with the LFT, calculated BMI from measured weight and height and questionnaires were completed for alcohol consumption by the twins. The relative contribution of genetic and environmental factors to variation in the LFT proteins was assessed and quantified using a variance components model fitting approach. Results Our results show that (1) variation in all the LFTs has a significant heritable basis (h2 ranging from 20% to 77%); (2) other than GGT, the LFTs are all affected to some extent by common environmental factors (c2 ranging from 24% to 54%); and (3) a small but significant proportion of the variation in the LFTs was due to confounding effects of age, sex, BMI, and alcohol use. Conclusions Variation in the LFT proteins is under significant genetic and common environmental control although sex, alcohol use, age and BMI also contribute significantly to inter-individual variation in the LFT proteins. Understanding the underlying genetic contribution of liver function tests may help the interpretation of their results and explain wide variation among individuals. PMID:19209234

  7. Integrated patient and tumor genetic testing for individualized cancer therapy.

    Science.gov (United States)

    Hertz, D L; McLeod, H L

    2016-02-01

    Tumor genome analysis is transforming cancer treatment by enabling identification of specific oncogenic drivers and selection of effective targeted agents. Meanwhile, patient genome analysis is being employed across therapeutic areas to inform selection of appropriate drugs and doses for treatment safety. Integration of patient genome analysis concurrent with preemptive tumor genetic testing will enable oncologists to make informed treatment decisions to select the right dose of the right drug for each patient and their tumor.

  8. Evolution of cyclizing 5-aminolevulinate synthases in the biosynthesis of actinomycete secondary metabolites: outcomes for genetic screening techniques.

    Science.gov (United States)

    Petříčková, Kateřina; Chroňáková, Alica; Zelenka, Tomáš; Chrudimský, Tomáš; Pospíšil, Stanislav; Petříček, Miroslav; Krištůfek, Václav

    2015-01-01

    A combined approach, comprising PCR screening and genome mining, was used to unravel the diversity and phylogeny of genes encoding 5-aminolevulinic acid synthases (ALASs, hemA gene products) in streptomycetes-related strains. In actinomycetes, these genes were believed to be directly connected with the production of secondary metabolites carrying the C5N unit, 2-amino-3-hydroxycyclopent-2-enone, with biological activities making them attractive for future use in medicine and agriculture. Unlike "classical" primary metabolism ALAS, the C5N unit-forming cyclizing ALAS (cALAS) catalyses intramolecular cyclization of nascent 5-aminolevulinate. Specific amino acid sequence changes can be traced by comparison of "classical" ALASs against cALASs. PCR screening revealed 226 hemA gene-carrying strains from 1,500 tested, with 87% putatively encoding cALAS. Phylogenetic analysis of the hemA homologs revealed strain clustering according to putative type of metabolic product, which could be used to select producers of specific C5N compound classes. Supporting information was acquired through analysis of actinomycete genomic sequence data available in GenBank and further genetic or metabolic characterization of selected strains. Comparison of 16S rRNA taxonomic identification and BOX-PCR profiles provided evidence for numerous horizontal gene transfers of biosynthetic genes or gene clusters within actinomycete populations and even from non-actinomycete organisms. Our results underline the importance of environmental and evolutionary data in the design of efficient techniques for identification of novel producers.

  9. Multiplex PCR-based simultaneous amplification of selectable marker and reporter genes for the screening of genetically modified crops.

    Science.gov (United States)

    Randhawa, Gurinder Jit; Chhabra, Rashmi; Singh, Monika

    2009-06-24

    The development and commercialization of genetically modified (GM) crops with enhanced insect and herbicide resistance, abiotic stress tolerance, and improved nutritional quality has expanded dramatically. Notwithstanding the huge potential benefits of GM crops, the perceived environmental risks associated with these crops need to be addressed in proper perspective. One critical concern is the adventitious presence or unintentional mixing of GM seed in non-GM seed lots, which can seriously affect the global seed market. It would therefore be necessary though a challenging task to develop reliable, efficient, and economical assays for GM detection, identification, and quantification in non-GM seed lots. This can be systematically undertaken by preliminary screening for control elements and selectable or scorable (reporter) marker genes. In this study, simplex and multiplex polymerase chain reaction (PCR) assays individually as well as simultaneously amplifying the commonly used selectable marker genes, i.e., aadA, bar, hpt, nptII, pat encoding, respectively, for aminoglycoside-3'-adenyltransferase, Streptococcus viridochromogenes phosphinothricin-N-acetyltransferase, hygromycin phosphotransferase, neomycin phosphotransferase, Streptococcus hygroscopicus phosphinothricin-N-acetyltransferase, and a reporter gene uidA encoding beta-d-glucuronidase, were developed as a reliable tool for qualitative screening of GM crops. The efficiency of the assays was also standardized in the test samples prepared by artificial mixing of transgenic seed samples in different proportions. The developed multiplex PCR assays will be useful in verifying the GM status of a sample irrespective of the crop and GM trait.

  10. Minimal-Length Interoperability Test Sequences Generation via Genetic Algorithm

    Institute of Scientific and Technical Information of China (English)

    ZHONG Ning; KUANG Jing-ming; HE Zun-wen

    2008-01-01

    A novel interoperability test sequences optimization scheme is proposed in which the genetic algo-rithm(GA)is used to obtain the minimal-length interoperability test sequences.During our work,the basicin teroperability test sequences are generated based on the minimal-complete-coverage criterion,which removes the redundancy from conformance test sequences.Then interoperability sequences minimization problem can be considered as an instance of the set covering problem,and the GA is applied to remove redundancy in interoperability transitions.The results show that compared to conventional algorithm,the proposed algorithm is more practical to avoid the state space explosion problem,for it can reduce the length of the test sequences and maintain the same transition coverage.

  11. Assessment of effectiveness and cost-effectiveness of HPV testing in primary screening for cervical

    Directory of Open Access Journals (Sweden)

    Willich, Stefan N.

    2007-09-01

    Full Text Available Introduction: The introduction of a screening programme for cervical carcinoma in Germany has led to a significant reduction in incidence of the disease. To date, however, diagnosis in Germany has been based solely on cervical cytology, which has been criticised because of a low sensitivity and consequently high rate of false negative results. Because an infection with the human papillomavirus (HPV previously was found to be a necessary aetiological factor in the development of cervical cancer, there has been some discussion that HPV testing should be included in cervical cancer screening. Objectives: How do HPV tests compare to cytological tests in terms of sensitivity and specificity, and what are the effects of screening for cervical carcinoma in Germany? Is there health economic evidence that may foster an inclusion of HPV testing into national screening programms? Methods: A systematic literature review was performed, including studies that compared the HPV test to cervical cytology in terms of sensitivity and specificity in the diagnosis of CIN 2+ (CIN=Cervical Intraepithelial Neoplasia. In addition, a systematic review of the relevant health economic literature was performed to analyze cost-effectiveness in the German setting. Results: A total of 24 studies fulfilled the inclusion criteria. One study consisted of three substudies. Hence, results of 26 comparisons of HPV and cytology are reported. In 25 of these, the HPV test was more sensitive than cytology, whereas cytology had better specificity in 21 studies. The combination of HPV test and cytology increased sensitivity. Variability in results was considerably larger for cytology than for HPV testing. Results of the economic meta-analysis suggest that in health care settings with already established PAP screening programms, cost-effectiveness strongly depends on screening intervals. In analyses comparing HPV screening to conventional PAP screening with two-yearly intervals, only 25

  12. Genetic Test of New Cottonwood Clones at Nursery Stage

    Institute of Scientific and Technical Information of China (English)

    QINGuanghua; JIANGYuezhong

    2004-01-01

    Twenty-five new clones belong to Populus Aigeiros of both domestic and foreign origin had been introduced and tested at nursery stage in Shandong province. Results showed that height (H),diameter at stem base (DO) and survival rate (SR) varied significantly and genetic variation were very large among the clones. CVg and broad-sense heritability (h2) of H, DO and SR of 1-year-old stock nursery were 7.43%, 9.25%, 18.78% and 78.91%, 96.31%, 95.93%, respectively, showing high genetic control on the tested traits. 11 superior clones with characteristics of high growth rate and medium or high SR were primarily selected and genetic gains (△G) of H, DO and SR were 16.89%, 16.08% and 13.08%, respectively.Rooting habits test of some selected clones were also conducted based on the cutting culture in water container and annual growth increment measured. The date of first root emergence, number of main roots, number of lateral roots, length of main roots and the emergence date of growth peak varied to certain degree among the selected clones.

  13. Genetic heterogeneity in HER2 testing may influence therapy eligibility.

    Science.gov (United States)

    Bernasconi, Barbara; Chiaravalli, Anna Maria; Finzi, Giovanna; Milani, Katia; Tibiletti, Maria Grazia

    2012-05-01

    Prospective studies have demonstrated that approximately 20% of HER2 testing may be inaccurate. When carefully validated testing is conducted, available data do not clearly demonstrate the superiority of either IHC or fluorescence in situ hybridization (FISH) as a predictor of benefit from anti-HER2 therapy. In addition, the interpretation of the findings of HER2 tests according to international guidelines is not uniform. The American Society of Clinical Oncology (ASCO) and the College of American Pathologists (CAP) recently published practice guidelines for a definition of HER2 amplification heterogeneity that can give rise to discrepant results between IHC and FISH assays for HER2. In this article, we compare the HER2 status of 291 non consecutive breast cancers. The status is determined by both IHC and FISH approaches, using a specific FISH strategy to investigate genetic heterogeneity. Our data demonstrate that HER2 amplified cells may be found as diffuse, clustered in a specific area or section, intermingled with non-amplified cells or confined to metastatic nodules. The correct evaluation of ratio value in the presence of genetic heterogeneity and of polysomy contributes to the accurate assessment of HER2 status and potentially affects the selection of appropriate anti-HER2 therapy. By taking into account the presence of different genetic cell populations, the immunotherapy eligibility criteria for HER2 FISH scoring proposed in the CAP (2009) and SIGU guidelines identify an additional subset of cases for trastuzumab or lapatinib therapy compared to the ASCO/CAP (2007) guidelines.

  14. Breast cancer genetic risk profile is differentially associated with interval and screen-detected breast cancers.

    Science.gov (United States)

    Li, J; Holm, J; Bergh, J; Eriksson, M; Darabi, H; Lindström, L S; Törnberg, S; Hall, P; Czene, K

    2015-03-01

    Polygenic risk profiles computed from multiple common susceptibility alleles for breast cancer have been shown to identify women at different levels of breast cancer risk. We evaluated whether this genetic risk stratification can also be applied to discriminate between screen-detected and interval cancers, which are usually associated with clinicopathological and survival differences. A 77 single-nucleotide polymorphism polygenic risk score (PRS) was constructed for breast cancer overall and by estrogen receptor (ER) status. PRS was inspected as a continuous (per standard deviation increment) variable in a case-only design. Modification of the PRS by mammographic density was evaluated by fitting an additional interaction term. PRS weighted by breast cancer overall estimates was found to be differentially associated with 1865 screen-detected and 782 interval cancers in the LIBRO-1 study {age-adjusted odds ratio (OR)perSD [95% confidence interval (CI)] 0.91 [0.83-0.99], P = 0.023}. The association was found to be more significant for PRS weighted by ER-positive breast cancer estimates [ORperSD = 0.90 (0.82-0.98), P = 0.011]. This result was corroborated by two independent studies [combined ORperSD = 0.87 (0.76-1.00), P = 0.058] with no evidence of heterogeneity. When enriched for 'true' interval cancers among nondense breasts, the difference in the association with PRS in screen-detected and interval cancers became more pronounced [ORperSD = 0.74 (0.62-0.89), P = 0.001], with a significant interaction effect between PRS and mammographic density (Pinteraction = 0.017). To our knowledge, this is the first report looking into the genetic differences between screen-detected and interval cancers. It is an affirmation that the two types of breast cancer may have unique underlying biology. © The Author 2014. Published by Oxford University Press on behalf of the European Society for Medical Oncology. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  15. Newborn screening for cystic fibrosis: parents' preferences regarding counseling at the time of infants' sweat test.

    Science.gov (United States)

    Tluczek, Audrey; Koscik, Rebecca L; Modaff, Peggy; Pfeil, Darci; Rock, Michael J; Farrell, Philip M; Lifchez, Caroline; Freeman, Mary Ellen; Gershan, William; Zaleski, Christina; Sullivan, Bradley

    2006-08-01

    Newborn screening (NBS) protocols for cystic fibrosis (CF) are the first regional population-based programs to incorporate DNA analysis into their procedures. Research about these programs can inform policy and practice regarding how best to counsel families with abnormal NBS results. The grounded theory method guided interviews with 33 families whose infants had abnormal CF NBS results. A dimensional analysis of these interviews provided a theoretical framework describing parents' preferences regarding counseling during their infant's sweat test appointment. This framework describes the contexts and characteristics of the two main dimensions of parents' preferences: factual information and emotional support. Factual information included learning about the probability of a CF diagnosis, CF disease facts, sweat test procedure, and CF genetics. Social support consisted of offering parents a choice about the timing and amount of CF information, showing empathy for their distress, instilling hope, personalizing counseling, and providing hospitality. This framework also explains the consequences of counseling that matched versus mismatched parental preferences in these domains. Counseling that matched parents preferences reduced parents' distress while mismatched counseling tended to increase parents' worry about their infant.

  16. Attitudes of young adults to prenatal screening and genetic correction for human attributes and psychiatric conditions.

    Science.gov (United States)

    Milner, K K; Collins, E E; Connors, G R; Petty, E M

    1998-03-05

    With recent advances in DNA technology, questions have arisen as to how this technology should be appropriately used. In this article, results obtained from a survey designed to elicit attitudes of college students to prenatal testing and gene therapy for human attributes and psychiatric conditions are reported. The eleven hypothetical disease phenotypes included schizophrenia, alcoholism, tendency toward violent behavior, attention deficit/hyperactivity disorder, depression requiring medical treatment, obesity, involvement in "dangerous" sports activities, homosexuality, borderline normal IQ (80-100), proportional short stature, and inability to detect perfect pitch. Most students supported prenatal genetic testing for psychiatric disorders and behavior that might result in harm to others (i.e., tendency towards violent behavior) and found prenatal genetic testing for human attributes less desirable. However, the lack of unilateral agreement or disagreement toward any one condition or attribute suggests the potential difficulties ahead in the quest for guidelines for the application of new technologies available to manipulate the human genome.

  17. 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.

  18. Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.

    Science.gov (United States)

    Bruwer, Zandrè; Algar, Ursula; Vorster, Alvera; Fieggen, Karen; Davidson, Alan; Goldberg, Paul; Wainwright, Helen; Ramesar, Rajkumar

    2014-04-01

    Biallelic germline mutations in mismatch repair genes predispose to constitutional mismatch repair deficiency syndrome (CMMR-D). The condition is characterized by a broad spectrum of early-onset tumors, including hematological, brain and bowel and is frequently associated with features of Neurofibromatosis type 1. Few definitive screening recommendations have been suggested and no published reports have described predictive testing. We report on the first case of predictive testing for CMMR-D following the identification of two non-consanguineous parents, with the same heterozygous mutation in MLH1: c.1528C > T. The genetic counseling offered to the family, for their two at-risk daughters, is discussed with a focus on the ethical considerations of testing children for known cancer-causing variants. The challenges that are encountered when reporting on heterozygosity in a child younger than 18 years (disclosure of carrier status and risk for Lynch syndrome), when discovered during testing for homozygosity, are addressed. In addition, the identification of CMMR-D in a three year old, and the recommended clinical surveillance that was proposed for this individual is discussed. Despite predictive testing and presymptomatic screening, the sudden death of the child with CMMR-D syndrome occurred 6 months after her last surveillance MRI. This report further highlights the difficulty of developing guidelines, as a result of the rarity of cases and diversity of presentation.

  19. Preschool Developmental Screening with Denver II Test in Semi-Urban Areas

    Science.gov (United States)

    Eratay, Emine; Bayoglu, Birgül; Anlar, Banu

    2015-01-01

    Purpose: To assess the feasibility and reliability of screening semi-urban preschool children with Denver II, developmental and neurological status was examined in relation with one-year outcome. Methodology: Denver II developmental screening test was applied to 583 children who visited family physicians or other health centers in a province of…

  20. Improving the Sensitivity of the Language Sector of the Denver Developmental Screening Test.

    Science.gov (United States)

    Glascoe, Frances P.; Borowitz, Kathleen C.

    1988-01-01

    The Denver Developmental Screening Test (DDST) and an expressive language measure were administered to 114 children (aged 24 to 74 months) suspected of developmental difficulties. The DDST did not identify the majority of children who failed the expressive language screening, even after cutoff scores were made more rigorous. (Author/JDD)

  1. 77 FR 15101 - Results From Inert Ingredient Test Orders Issued Under EPA's Endocrine Disruptor Screening...

    Science.gov (United States)

    2012-03-14

    ..., Endocrine disruptors, Pesticides and pests. Dated: February 17, 2012. Lois Rossi, Director, Registration... AGENCY Results From Inert Ingredient Test Orders Issued Under EPA's Endocrine Disruptor Screening Program... EPA's Endocrine Disruptor Screening Program (EDSP) and the Federal Food, Drug, and Cosmetic Act...

  2. Organizational Benchmarks for Test Utilization Performance: An Example Based on Positivity Rates for Genetic Tests.

    Science.gov (United States)

    Rudolf, Joseph; Jackson, Brian R; Wilson, Andrew R; Smock, Kristi J; Schmidt, Robert L

    2017-04-01

    Health care organizations are under increasing pressure to deliver value by improving test utilization management. Many factors, including organizational factors, could affect utilization performance. Past research has focused on the impact of specific interventions in single organizations. The impact of organizational factors is unknown. The objective of this study is to determine whether testing patterns are subject to organizational effects, ie, are utilization patterns for individual tests correlated within organizations. Comparative analysis of ordering patterns (positivity rates for three genetic tests) across 659 organizations. Hierarchical regression was used to assess the impact of organizational factors after controlling for test-level factors (mutation prevalence) and hospital bed size. Test positivity rates were correlated within organizations. Organizations have a statistically significant impact on the positivity rate of three genetic tests.

  3. Detecting Cognitive Impairment and Dementia in Deaf People: The British Sign Language Cognitive Screening Test.

    Science.gov (United States)

    Atkinson, Joanna; Denmark, Tanya; Marshall, Jane; Mummery, Cath; Woll, Bencie

    2015-11-01

    To provide accurate diagnostic screening of deaf people who use signed communication, cognitive tests must be devised in signed languages with normative deaf samples. This article describes the development of the first screening test for the detection of cognitive impairment and dementia in deaf signers. The British Sign Language Cognitive Screening Test uses standardized video administration to screen cognition using signed, rather than spoken or written, instructions and a large norm-referenced sample of 226 deaf older people. Percentiles are provided for clinical comparison. The tests showed good reliability, content validity, and correlation with age, intellectual ability, and education. Clinical discrimination was shown between the normative sample and 14 deaf patients with dementia. This innovative testing approach transforms the ability to detect dementia in deaf people, avoids the difficulties of using an interpreter, and enables culturally and linguistically sensitive assessment of deaf signers, with international potential for adaptation into other signed languages.

  4. 78 FR 66366 - Draft Guidance for Industry: Use of Donor Screening Tests To Test Donors of Human Cells, Tissues...

    Science.gov (United States)

    2013-11-05

    ... Test Donors of Human Cells, Tissues, and Cellular and Tissue-Based Products for Infection With... entitled ``Guidance for Industry: Use of Donor Screening Tests to Test Donors of Human Cells, Tissues, and... ``Guidance for Industry: Eligibility Determination for Donors of Human Cells, Tissues, and Cellular and...

  5. Psychosocial impact of genetic testing for hemochromatosis in the HEIRS Study: a comparison of participants recruited in Canada and in the United States.

    Science.gov (United States)

    Power, Tara E; Adams, Paul C; Barton, James C; Acton, Ronald T; Howe, Edmund; Palla, Shana; Walker, Ann P; Anderson, Roger; Harrison, Barbara

    2007-01-01

    The Hemochromatosis and Iron Overload Screening (HEIRS) Study screened 101,168 participants recruited from primary-care clinics in Canada and the United States. The present study investigated differences in the psychological effects of genetic screening for hemochromatosis (HFE mutation analysis) in participants from each country. Study participants comprised a subset of 2,654 individuals who donated blood for HFE mutation analysis. The initial screening and 1-month post-result questionnaires included measures of General Health, Mental Health (SF-36), and a measure of the percentage of individuals who experienced at least one example of worry in response to the genetic testing. Participants reported similar changes in general health and mental health, regardless of mutation result, or country. Although a significantly lower percentage of Canadian participants than U.S. participants indicated at least one negative emotional response to the genetic testing, greater than 50% of C282Y homozygote participants (the gene mutation most strongly associated with hemochromatosis) from both countries experienced such in response to testing. Thus, although not serious enough to affect individuals' mental or physical health, there was evidence of at least one element of negative emotional response to the genetic testing. These findings suggest that population screening for common HFE mutations associated with hemochromatosis risk has similar psychological effects on Canadian and U.S. individuals, although fewer Canadians may experience a negative response to such testing.

  6. A PREDICTIVE SCREENING TEST FOR CHILDREN WITH ARTICULATORY SPEECH DEFECTS.

    Science.gov (United States)

    VAN RIPER, CHARLES

    THE CONSTRUCTION OF A TEST TO IDENTIFY DEFECTIVE ARTICULATION IN FIRST-GRADE CHILDREN WAS REPORTED. THE "EMPIRICAL SCALE DERIVATION METHOD" WAS SELECTED AS THE MOST APPROPRIATE TECHNIQUE TO SEEK TEST ITEMS FOR THE PREDICTION OF ARTICULATORY MATUARATION. AFTER SELECTION AND REDUCTION TO 135 TEST ITEMS, AN EXPERIMENTAL ITEM POOL WAS…

  7. Familial Mediterranean fever without cardinal symptoms and role of genetic screening.

    Science.gov (United States)

    Ulas, T; Buyukhatipoglu, H; Bes, C; Dal, M S; Hacıbekiroglu, I; Apucu, H G; Borlu, F

    2012-07-19

    Familial Mediterranean fever is an autosomal recessive disorder characterized by paroxysmal episodes of fever and serosal inflammation. The classical presentation is fever and severe recurrent abdominal pain due to serositis that lasts for one to three days and the resolves spontaneously. Between the episodes patients are asymptomatic. Ninety-five percent of patients with familial mediterranean fever have painful episodes localized to the abdomen, which is usually the dominant manifestation of the disease. Herein, we present a case of 34-year-old man with incomplete abdominal pain episode of familial mediterranean fever limited to the epigastrum and had no cardinals symptoms of this disease. The diagnosis was made by genetic screening. Successful treatment response was achieved by colchicine.

  8. Familial Mediterranean fever without cardinal symptoms and role of genetic screening

    Directory of Open Access Journals (Sweden)

    I. Hacıbekiroglu

    2012-07-01

    Full Text Available Familial mediterranean fever is an autosomal recessive disorder characterized by paroxysmal episodes of fever and serosal inflammation. The classical presentation is fever and severe recurrent abdominal pain due to serositis that lasts for one to three days and the resolves spontaneously. Between the episodes patients are asymptomatic. Ninety-five percent of patients with familial mediterranean fever have painful episodes localized to the abdomen, which is usually the dominant manifestation of the disease. Herein, we present a case of 34-year-old man with incomplete abdominal pain episode of familial mediterranean fever limited to the epigastrum and had no cardinals symptoms of this disease. The diagnosis was made by genetic screening. Succesful treatment response was achieved by colchicine.

  9. Designer babies on tap? Medical students' attitudes to pre-implantation genetic screening.

    Science.gov (United States)

    Meisenberg, Gerhard

    2009-03-01

    This paper describes two studies about the determinants of attitudes to pre-implantation genetic screening in a multicultural sample of medical students from the United States. Sample sizes were 292 in study 1 and 1464 in study 2. Attitudes were of an undifferentiated nature, but respondents did make a major distinction between use for disease prevention and use for enhancement. No strong distinctions were made between embryo selection and germ line gene manipulations, and between somatic gene therapy and germ line gene manipulations. Religiosity was negatively associated with acceptance of "designer baby" technology for Christians and Muslims but not Hindus. However, the strongest and most consistent influence was an apparently moralistic stance against active and aggressive interference with natural processes in general. Trust in individuals and institutions was unrelated to acceptance of the technology, indicating that fear of abuse by irresponsible individuals and corporations is not an important determinant of opposition.

  10. Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review).

    Science.gov (United States)

    England, J D; Gronseth, G S; Franklin, G; Carter, G T; Kinsella, L J; Cohen, J A; Asbury, A K; Szigeti, K; Lupski, J R; Latov, N; Lewis, R A; Low, P A; Fisher, M A; Herrmann, D; Howard, J F; Lauria, G; Miller, R G; Polydefkis, M; Sumner, A J

    2009-01-01

    Distal symmetric polyneuropathy (DSP) is the most common variety of neuropathy. Since the evaluation of this disorder is not standardized, the available literature was reviewed to provide evidence-based guidelines regarding the role of laboratory and genetic tests for the assessment of DSP. A literature review using MEDLINE, EMBASE, Science Citation Index, and Current Contents was performed to identify the best evidence regarding the evaluation of polyneuropathy published between 1980 and March 2007. Articles were classified according to a four-tiered level of evidence scheme and recommendations were based on the level of evidence. (1) Screening laboratory tests may be considered for all patients with polyneuropathy (Level C). Those tests that provide the highest yield of abnormality are blood glucose, serum B(12) with metabolites (methylmalonic acid with or without homocysteine), and serum protein immunofixation electrophoresis (Level C). If there is no definite evidence of diabetes mellitus by routine testing of blood glucose, testing for impaired glucose tolerance may be considered in distal symmetric sensory polyneuropathy (Level C). (2) Genetic testing is established as useful for the accurate diagnosis and classification of hereditary neuropathies (Level A). Genetic testing may be considered in patients with cryptogenic polyneuropathy who exhibit a hereditary neuropathy phenotype (Level C). Initial genetic testing should be guided by the clinical phenotype, inheritance pattern, and electrodiagnostic (EDX) features and should focus on the most common abnormalities, which are CMT1A duplication/HNPP deletion, Cx32 (GJB1), and MFN2 mutation screening. There is insufficient evidence to determine the usefulness of routine genetic testing in patients with cryptogenic polyneuropathy who do not exhibit a hereditary neuropathy phenotype (Level U).

  11. A heterogeneity test for fine-scale genetic structure.

    Science.gov (United States)

    Smouse, Peter E; Peakall, Rod; Gonzales, Eva

    2008-07-01

    For organisms with limited vagility and/or occupying patchy habitats, we often encounter nonrandom patterns of genetic affinity over relatively small spatial scales, labelled fine-scale genetic structure. Both the extent and decay rate of that pattern can be expected to depend on numerous interesting demographic, ecological, historical, and mating system factors, and it would be useful to be able to compare different situations. There is, however, no heterogeneity test currently available for fine-scale genetic structure that would provide us with any guidance on whether the differences we encounter are statistically credible. Here, we develop a general nonparametric heterogeneity test, elaborating on standard autocorrelation methods for pairs of individuals. We first develop a 'pooled within-population' correlogram, where the distance classes (lags) can be defined as functions of distance. Using that pooled correlogram as our null-hypothesis reference frame, we then develop a heterogeneity test of the autocorrelations among different populations, lag-by-lag. From these single-lag tests, we construct an analogous test of heterogeneity for multilag correlograms. We illustrate with a pair of biological examples, one involving the Australian bush rat, the other involving toadshade trillium. The Australian bush rat has limited vagility, and sometimes occupies patchy habitat. We show that the autocorrelation pattern diverges somewhat between continuous and patchy habitat types. For toadshade trillium, clonal replication in Piedmont populations substantially increases autocorrelation for short lags, but clonal replication is less pronounced in mountain populations. Removal of clonal replicates reduces the autocorrelation for short lags and reverses the sign of the difference between mountain and Piedmont correlograms.

  12. A Novel WRN Frameshift Mutation Identified by Multiplex Genetic Testing in a Family with Multiple Cases of Cancer.

    Science.gov (United States)

    Yang, Liu; Wang, Guosheng; Zhao, Xinyi; Ye, Song; Shen, Peng; Wang, Weilin; Zheng, Shusen

    2015-01-01

    Next-generation sequencing technology allows simultaneous analysis of multiple susceptibility genes for clinical cancer genetics. In this study, multiplex genetic testing was conducted in a Chinese family with multiple cases of cancer to determine the variations in cancer predisposition genes. The family comprises a mother and her five daughters, of whom the mother and the eldest daughter have cancer and the secondary daughter died of cancer. We conducted multiplex genetic testing of 90 cancer susceptibility genes using the peripheral blood DNA of the mother and all five daughters. WRN frameshift mutation is considered a potential pathogenic variation according to the guidelines of the American College of Medical Genetics. A novel WRN frameshift mutation (p.N1370Tfs*23) was identified in the three cancer patients and in the youngest unaffected daughter. Other rare non-synonymous germline mutations were also detected in DICER and ELAC2. Functional mutations in WRN cause Werner syndrome, a human autosomal recessive disease characterized by premature aging and associated with genetic instability and increased cancer risk. Our results suggest that the WRN frameshift mutation is important in the surveillance of other members of this family, especially the youngest daughter, but the pathogenicity of the novel WRN frameshift mutation needs to be investigated further. Given its extensive use in clinical genetic screening, multiplex genetic testing is a promising tool in clinical cancer surveillance.

  13. Genetic Biomarker Prevalence Is Similar in Fecal Immunochemical Test Positive and Negative Colorectal Cancer Tissue.

    Science.gov (United States)

    Levin, Theodore R; Corley, Douglas A; Jensen, Christopher D; Marks, Amy R; Zhao, Wei K; Zebrowski, Alexis M; Quinn, Virginia P; Browne, Lawrence W; Taylor, William R; Ahlquist, David A; Lidgard, Graham P; Berger, Barry M

    2017-03-01

    Fecal immunochemical test (FIT) screening detects most asymptomatic colorectal cancers. Combining FIT screening with stool-based genetic biomarkers increases sensitivity for cancer, but whether DNA biomarkers (biomarkers) differ for cancers detected versus missed by FIT screening has not been evaluated in a community-based population. To evaluate tissue biomarkers among Kaiser Permanente Northern California patients diagnosed with colorectal cancer within 2 years after FIT screening. FIT-negative and FIT-positive colorectal cancer patients 50-77 years of age were matched on age, sex, and cancer stage. Adequate DNA was isolated from paraffin-embedded specimens in 210 FIT-negative and 211 FIT-positive patients. Quantitative allele-specific real-time target and signal amplification assays were performed for 7 K-ras mutations and 10 aberrantly methylated DNA biomarkers (NDRG4, BMP3, SFMBT2_895, SFMBT2_896, SFMBT2_897, CHST2_7890, PDGFD, VAV3, DTX1, CHST2_7889). One or more biomarkers were found in 414 of 421 CRCs (98.3%). Biomarker expression was not associated with FIT status, with the exception of higher SFMBT2_897 expression in FIT-negative (194 of 210; 92.4%) than in FIT-positive cancers (180 of 211; 85.3%; p = 0.02). There were no consistent differences in biomarker expression by FIT status within age, sex, stage, and cancer location subgroups. The biomarkers of a currently in-use multi-target stool DNA test (K-ras, NDRG4, and BMP3) and eight newly characterized methylated biomarkers were commonly expressed in tumor tissue specimens, independent of FIT result. Additional study using stool-based testing with these new biomarkers will allow assessment of sensitivity, specificity, and clinical utility.

  14. A genetic screen reveals a periplasmic copper chaperone required for nitrite reductase activity in pathogenic Neisseria.

    Science.gov (United States)

    Jen, Freda E-C; Djoko, Karrera Y; Bent, Stephen J; Day, Christopher J; McEwan, Alastair G; Jennings, Michael P

    2015-09-01

    Under conditions of low oxygen availability, Neisseria meningitidis and Neisseria gonorrhoeae are able to respire via a partial denitrification pathway in which nitrite is converted to nitrous oxide. In this process, nitrite reductase (AniA), a copper (Cu)-containing protein converts nitrite to NO, and this product is converted to nitrous oxide by nitric oxide reductase (NorB). NorB also confers protection against toxic NO, and so we devised a conditional lethal screen, using a norB mutant, to identify mutants that were resistant to nitrite-dependent killing. After random-deletion mutagenesis of N. meningitidis, this genetic screen identified a gene encoding a Cu chaperone that is essential for AniA function, AccA. Purified AccA binds one Cu (I) ion and also possesses a second binding site for Cu (II). This novel periplasmic Cu chaperone (AccA) appears to be essential for provision of Cu ions to AniA of pathogenic Neisseria to generate an active nitrite reductase. Apart from the Neisseria genus, AccA is distributed across a wide range of environmental Proteobacteria species. © FASEB.

  15. Genetic modifier screens reveal new components that interact with the Drosophila dystroglycan-dystrophin complex.

    Directory of Open Access Journals (Sweden)

    Mariya M Kucherenko

    Full Text Available The Dystroglycan-Dystrophin (Dg-Dys complex has a capacity to transmit information from the extracellular matrix to the cytoskeleton inside the cell. It is proposed that this interaction is under tight regulation; however the signaling/regulatory components of Dg-Dys complex remain elusive. Understanding the regulation of the complex is critical since defects in this complex cause muscular dystrophy in humans. To reveal new regulators of the Dg-Dys complex, we used a model organism Drosophila melanogaster and performed genetic interaction screens to identify modifiers of Dg and Dys mutants in Drosophila wing veins. These mutant screens revealed that the Dg-Dys complex interacts with genes involved in muscle function and components of Notch, TGF-beta and EGFR signaling pathways. In addition, components of pathways that are required for cellular and/or axonal migration through cytoskeletal regulation, such as Semaphorin-Plexin, Frazzled-Netrin and Slit-Robo pathways show interactions with Dys and/or Dg. These data suggest that the Dg-Dys complex and the other pathways regulating extracellular information transfer to the cytoskeletal dynamics are more intercalated than previously thought.

  16. The minisequencing method: a simple strategy for genetic screening of MEN 2 families

    Directory of Open Access Journals (Sweden)

    Domingues Rita

    2002-05-01

    Full Text Available Abstract Background Multiple endocrine neoplasia type 2 is an autosomal dominant disorder. MEN 2A is characterized by medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism; MEN 2B by medullary thyroid carcinoma, pheochromocytoma and characteristic stigmata. Activating germline mutations of the RET proto oncogene are responsible for this hereditary syndrome. Codon 634 mutations are the most common mutations occurring in MEN 2A families whereas a specific mutation at codon 918 is observed in the great majority of MEN 2B families. Analysis of these codons will provide a final diagnosis in the great majority of affected families making unnecessary further studies. To specifically study the codons 634 and 918 we used a minisequencing method as an alternative method to complete sequencing. Results Using this mutation detection method we were able to reproduce in all cases, representative of 7 families, the information previously obtained by direct sequencing of PCR products. Depending on the number of primers used in the minisequencing reaction, we were able to interrogate either only one nucleotide of the target codon or the three nucleotides simultaneously. Conclusions This technique appears as a simple, rapid and efficient method for genetic screening of MEN 2 families. It can be utilized to seek for unknown mutations at specific codons or to screen for previously identified mutations and is therefore of interest to study index cases or individuals at risk. Results suggest that complete sequencing is unnecessary.

  17. Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men.

    Science.gov (United States)

    Fu, Li; Xiong, Da-Ke; Ding, Xian-Ping; Li, Chuang; Zhang, Li-Yuan; Ding, Min; Nie, Shuang-Shuang; Quan, Qiang

    2012-06-01

    To investigate the frequency and type of both chromosomal abnormalities and Y chromosome microdeletions and analyze their association with defective spermatogenesis in Chinese infertile men. This is a single center study. Karyotyping using G-banding and screening for Y chromosome microdeletion by multiplex polymerase chain reaction(PCR)were performed in 200 controls and 1,333 infertile men, including 945 patients with non-obstructive azoospermia and 388 patients with severe oligozoospermia. Out of 1,333 infertile patients, 154(11.55%) presented chromosomal abnormalities. Of these, 139 of 945 (14.71%) were from the azoospermic and 15 of 388 (3.87%) from the severe oligozoospermic patient groups. The incidence of sex chromosomal abnormalities in men with azoospermia was 11.53% compared with 1.03% in men with severe oligozoospermia (P chromosome microdeletions. The incidence of azoospermia factor(AZF) microdeletion was 11.75% and 8.51% in patients with azoospermia and severe oligozoospermia respectively. Deletion of AZFc was the most common and deletions in AZFa or AZFab or AZFabc were found in azoospermic men. In addition, 34 patients had chromosomal abnormalities among the 144 patients with Y chromosome microdeletions. No chromosomal abnormality and microdeletion in AZF region were detected in controls. There was a high incidence (19.80%) of chromosomal abnormalities and Y chromosomal microdeletions in Chinese infertile males with azoospermia or severe oligozoospermia. These findings strongly suggest that genetic screening should be advised to infertile men before starting assisted reproductive treatments.

  18. Bias in estimating accuracy of a binary screening test with differential disease verification.

    Science.gov (United States)

    Alonzo, Todd A; Brinton, John T; Ringham, Brandy M; Glueck, Deborah H

    2011-07-10

    Sensitivity, specificity, positive and negative predictive value are typically used to quantify the accuracy of a binary screening test. In some studies, it may not be ethical or feasible to obtain definitive disease ascertainment for all subjects using a gold standard test. When a gold standard test cannot be used, an imperfect reference test that is less than 100 per cent sensitive and specific may be used instead. In breast cancer screening, for example, follow-up for cancer diagnosis is used as an imperfect reference test for women where it is not possible to obtain gold standard results. This incomplete ascertainment of true disease, or differential disease verification, can result in biased estimates of accuracy. In this paper, we derive the apparent accuracy values for studies subject to differential verification. We determine how the bias is affected by the accuracy of the imperfect reference test, the percent who receive the imperfect reference standard test not receiving the gold standard, the prevalence of the disease, and the correlation between the results for the screening test and the imperfect reference test. It is shown that designs with differential disease verification can yield biased estimates of accuracy. Estimates of sensitivity in cancer screening trials may be substantially biased. However, careful design decisions, including selection of the imperfect reference test, can help to minimize bias. A hypothetical breast cancer screening study is used to illustrate the problem.

  19. Novel Treponema pallidum Serologic Tests: A Paradigm Shift in Syphilis Screening for the 21st Century

    National Research Council Canada - National Science Library

    Arlene C. Seña; Becky L. White; P. Frederick Sparling

    2010-01-01

    .... Although most of these newer tests are not yet cleared for use in the United States by the Food and Drug Administration, their performance and ease of automation have promoted their application for syphilis screening...

  20. Points to consider for prioritizing clinical genetic testing services

    DEFF Research Database (Denmark)

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

    2015-01-01

    of prioritization criteria would be desirable. A decision process following the accountability for reasonableness framework was undertaken, including a multidisciplinary EuroGentest/PPPC-ESHG workshop to develop shared prioritization criteria. Resources are currently too limited to fund all the beneficial genetic......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...