Sample records for genetic test results

  1. 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

  2. What Do the Results of Genetic Tests Mean? (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 ...

  3. 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 sho

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


    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.

  5. Psychological distress with direct-to-consumer genetic testing: a case report of an unexpected BRCA positive test result. (United States)

    Dohany, Lindsay; Gustafson, Shanna; Ducaine, Whitney; Zakalik, Dana


    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.

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


    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,…

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


    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.


    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 ...

  8. Parents' responses to disclosure of genetic test results of their children

    NARCIS (Netherlands)

    Grosfeld, FJM; Beemer, FA; Lips, CJM; ten Kroode, HFJ


    The psychological reactions of 22 parental couples and 3 single parents were investigated after disclosure of genetic test results of their children. The children were tested for the early-onset, monogenetic cancer disorder multiple endocrine neoplasia type 2. Participants came from 13 different fam

  9. Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result. (United States)

    Predham, Sarah; Hathaway, Julie; Hulait, Gurdip; Arbour, Laura; Lehman, Anna


    Patients' perceptions of inconclusive results have been previously investigated in cancer genetics. The differences in how patients recall and interpret an uninformative test result compared to a known pathogenic result can affect medical decisions post disclosure. However, there is little to no data available on patients' interpretation and perception of uninformative genetic results in inherited heart disease. We report the results of a qualitative analysis of 16 telephone interviews with participants who received a negative or a variant of unknown significance (VUS) result from Long QT syndrome (LQTS) genetic testing. Our results suggest that the type of result (negative versus VUS) does not affect recall, regardless of the reason for testing. When receiving a negative result, a majority of participants appropriately perceived no change in their diagnosis, while the perception of risk for family members varied. The majority of participants felt they maintained an awareness of their condition after the result disclosure, and that clinical follow-up was similar to that planned prior to the genetic test result. Further work is needed to determine if there are any differences between obtaining a VUS result versus a negative result in this population.

  10. 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


    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

  11. Life insurance and genetic test results: a mutation carrier's fight to achieve full cover. (United States)

    Keogh, Louise A; Otlowski, Margaret F A


    Currently, there is debate about life insurance companies' use of genetic information for assessing applicants. In his early 20s, James (pseudonym) was denied full life insurance cover because he revealed that he had discussed genetic testing with a genetic counsellor. He was later tested and found to carry a mutation in the MSH6 gene; after disclosing this, he was denied cover for cancer by two other life insurance companies. Unsatisfied with the insurance companies' risk assessments, and based on his understanding that regular colonoscopy significantly reduced his risk of cancer, James made a complaint to the Australian Human Rights Commission. After informing the third insurance company that he had done so, he was offered full coverage, which suggests that the company did not have actuarial data to justify its decision. This case provides evidence of the high level of initiative and proactivity required for a consumer to achieve a fair result. Few Australians would be in a position to pursue the level of research and advocacy undertaken by James (a professional with scientific training). We call on a collaborative approach between industry, government and researchers to address the issues that James's case raises about genetic testing and life insurance.

  12. Effects of disclosing hypothetical genetic test results for salt sensitivity on salt restriction behavior

    Directory of Open Access Journals (Sweden)

    Takeshima T


    Full Text Available Taro Takeshima,1,2 Masanobu Okayama,1 Masanori Harada,3 Ryusuke Ae,4 Eiji Kajii1 1Division of Community and Family Medicine, Center for Community Medicine, Jichi Medical University, Tochigi, Japan; 2Department of Healthcare Epidemiology, Kyoto University Graduate School of Medicine and Public Health, Kyoto, Japan; 3Department for Support of Rural Medicine, Yamaguchi Grand Medical Center, Yamaguchi, Japan; 4Department of General Internal Medicine, Hamasaka Public Hospital, Mikata, Japan Background: A few studies have explored the effects of disclosure of genetic testing results on chronic disease predisposition. However, these effects remain unclear in cases of hypertension. Reducing salt intake is an important nonpharmacological intervention for hypertension. We investigated the effects of genetic testing for salt sensitivity on salt restriction behavior using hypothetical genetic testing results. Methods: We conducted a cross-sectional study using a self-completed questionnaire. We enrolled consecutive outpatients who visited primary care clinics and small hospitals between September and December 2009 in Japan. We recorded the patients’ baseline characteristics and data regarding their salt restriction behavior, defined as reducing salt intake before and after disclosure of hypothetical salt sensitivity genetic test results. Behavioral stage was assessed according to the five-stage transtheoretical model. After dividing subjects into salt restriction and no salt restriction groups, we compared their behavioral changes following positive and negative test results and analyzed the association between the respondents’ characteristics and their behavioral changes. Results: We analyzed 1562 participants with a mean age of 58 years. In the no salt restriction group, which included patients at the precontemplation, contemplation, and preparation stages, 58.7% stated that their behavioral stage progressed after a positive test result, although 29

  13. Is the psychological impact of genetic testing moderated by support and sharing of test results to family and friends? (United States)

    Lapointe, Julie; Dorval, Michel; Noguès, Catherine; Fabre, Roxane; Julian-Reynier, Claire


    Receiving the results of genetic tests for a breast and ovarian cancer susceptibility can be a stressful experience. Here we studied the effects of social support (SS) and the sharing of test results on the psychological impact of BRCA1/2 test result disclosure. We also compared carriers and non-carriers on sharing, SS and psychological impact. Five-hundred and twenty-two unaffected women were followed prospectively for 2 years after receiving their test results. Psychological impact was measured on the impact of event scale. Multivariate multi-level models were used, and all the analyses were stratified depending on mutation status (carriers vs non-carriers). Two weeks after receiving their BRCA1/2 results, carriers had shared their test results less frequently than non-carriers (p test results was not significantly associated with psychological impact. Availability of SS was significantly associated with better psychological adjustment across time among carriers (p < 0.01), but not among non-carriers. For female BRCA1/2 mutation carriers, the importance of SS should be stressed, and possible ways of enlisting people in their entourage for this purpose should be discussed in the context of clinical encounters.

  14. Impact of genetic counseling and Connexin-26 and Connexin-30 testing on deaf identity and comprehension of genetic test results in a sample of deaf adults: a prospective, longitudinal study. (United States)

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


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

  15. Genetic Testing for ALS (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 . Genetic Testing Genetic testing can help determine the cause of ...

  16. Conveying a probabilistic genetic test result to families with an inherited heart disease. (United States)

    Ingles, Jodie; Semsarian, Christopher


    The evolution of genetic testing in the past few years has been astounding. In a matter of only a few years, we now have comprehensive gene tests comprising vast panels of "cardiac" genes, whole exome sequencing (the entire coding region) and even whole genome sequencing (the entire genome). Making the call as to whether a DNA variant is causative or benign is difficult and the focus of intense research efforts. In most cases, the final answer will not be a simple yes/no outcome but rather a graded continuum of pathogenicity. This allows classification of variants in a more probabilistic way. How we convey this to a patient is the challenge, and certainly shines a spotlight on the important skills of the cardiac genetic counselor. This is an exciting step forward, but the overwhelming complexity of the information generated from these tests means our current practices of conveying genetic information to the family must be carefully considered. Despite the challenges, a genetic diagnosis in a family has great benefit both in reassuring unaffected family members and removing the need for lifetime clinical surveillance. The multidisciplinary specialized clinic model, incorporating genetic counselors, cardiologists and geneticists, provides the ideal framework for ensuring the best possible care for genetic heart disease families. Copyright © 2014 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

  17. Genetic analysis of results of a Swedish behavior test on German Shepherd Dogs and Labrador Retrievers1

    NARCIS (Netherlands)

    Waaij, van der E.H.; Wilsson, E.; Strandberg, E.


    The objectives of this study were to estimate genetic parameters and the influence of systematic effects on behavior test results in dogs. Behavior test results on 1,813 Labrador Retrievers (LR) and 2,757 German Shepherd Dogs (GSD) were analyzed. The behavior test included observations on courage,

  18. Results of the 2009 Paternity Testing Workshop of the English Speaking Working Group of the International Society for Forensic Genetics

    DEFF Research Database (Denmark)


    Here we present the results of the 2009 Paternity Testing Workshop of the English Speaking Working Group of the International Society for Forensic Genetics. The exercise included paternity testing of blood samples from a mother, a child and two alleged fathers. The laboratories were encouraged...

  19. Results of the 2007 Paternity Testing Workshop of the English Speaking Working Group of the International Society for Forensic Genetics

    DEFF Research Database (Denmark)


    We present the results of the 2007 Paternity Testing Workshop of the English Speaking Working Group of the International Society for Forensic Genetics. The exercise included paternity testing of blood samples from a mother, a child and an alleged father. The laboratories were encouraged to answer...

  20. The role of disease perceptions and results sharing in psychological adaptation after genetic susceptibility testing: the REVEAL Study. (United States)

    Ashida, Sato; Koehly, Laura M; Roberts, J Scott; Chen, Clara A; Hiraki, Susan; Green, Robert C


    This study evaluates the extent to which psychological adaptation (validated measures of depressive symptoms, anxiety, and test-specific distress) after genetic susceptibility testing is influenced by changes in beliefs about Alzheimer's disease (AD) and sharing of test results with others. Adult children of AD patients (N=269) from a randomized clinical trial involving genetic testing for apolipoprotein E (APOE) provided information before, as well as 6 weeks and 12 months after results disclosure. The levels of adaptation varied highly among participants at 12-month assessment. Participants who learned that they were ε4 negative (lower risk) had a reduction in perceived risk and concern about developing AD compared with those who learned that they were ε4 positive. Those who received results through an extended educational protocol (three in-person visits) had a larger decline in AD concern than those in a condensed protocol (educational brochure and two in-person visits). Increase in AD concern 6 weeks after disclosure was associated with increase in depression scores (b=0.20, Ptesting (b=0.18, P=0.02) 1 year after testing. Increase in perceived risk (b=0.16, P=0.04) was also associated with higher AD genetic testing distress. Sharing the test results with health professionals and friends (but not family) was associated with decrease in depression (b=-0.11, P=0.05) and anxiety levels (b=-0.16, Ptesting may help facilitate test recipients' long-term psychological adaptation.

  1. Pitfalls in genetic testing

    DEFF Research Database (Denmark)

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


    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...

  2. Clinical Genetic Testing in Gastroenterology (United States)

    Goodman, Russell P; Chung, Daniel C


    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. Feline genetics: clinical applications and genetic testing. (United States)

    Lyons, Leslie A


    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.

  4. Genetic antimicrobial susceptibility testing in Gram-negative sepsis - impact on time to results in a routine laboratory. (United States)

    Kommedal, Øyvind; Aasen, Johanne Lind; Lindemann, Paul Christoffer


    Diagnostic testing of positive blood cultures is among the most critical tasks performed by clinical microbiology laboratories, and the total analysis time from sampling to results should be kept as short as possible. By providing identification of pelleted bacteria directly from positive blood-cultures, MALDI-TOF MS opens for relatively low-complex species-adjusted genetic susceptibility testing from the same bacterial pellet. In our lab routine, we prospectively evaluated a rapid in-house real-time PCR targeting the most common aminoglycoside and cephalosporin resistance genes in Escherichia coli and Klebsiella pneumoniae and measured time to preliminary susceptibility reporting for 138 samples. The results were compared to direct phenotypic susceptibility testing with interpretation after 6 h and overnight incubation respectively. Results from the genetic susceptibility testing were available for 69.5% (96/138) of the positive blood cultures within 24 h after sample collection. No phenotypic susceptibility results were available at this time. Compared to overnight direct susceptibility testing, the average time from sample collection to preliminary susceptibility reporting was reduced with 43%, from 45 h and 5 min to 25 h and 44 min, providing an earlier adjustment of antimicrobial therapy for 12 patients. Minor logistic adjustments have the potential to save yet another 4 h.

  5. Systematic testing of literature reported genetic variation associated with coronary restenosis: results of the GENDER Study.

    Directory of Open Access Journals (Sweden)

    Jeffrey J W Verschuren

    Full Text Available BACKGROUND: Coronary restenosis after percutaneous coronary intervention still remains a significant problem, despite all medical advances. Unraveling the mechanisms leading to restenosis development remains challenging. Many studies have identified genetic markers associated with restenosis, but consistent replication of the reported markers is scarce. The aim of the current study was to analyze the joined effect of previously in literature reported candidate genes for restenosis in the GENetic DEterminants of Restenosis (GENDER databank. METHODOLOGY/PRINCIPAL FINDINGS: Candidate genes were selected using a MEDLINE search including the terms 'genetic polymorphism' and 'coronary restenosis'. The final set included 36 genes. Subsequently, all single nucleotide polymorphisms (SNPs in the genomic region of these genes were analyzed in GENDER using set-based analysis in PLINK. The GENDER databank contains genotypic data of 2,571,586 SNPs of 295 cases with restenosis and 571 matched controls. The set, including all 36 literature reported genes, was, indeed, significantly associated with restenosis, p = 0.024 in the GENDER study. Subsequent analyses of the individual genes demonstrated that the observed association of the complete set was determined by 6 of the 36 genes. CONCLUSION: Despite overt inconsistencies in literature, with regard to individual candidate gene studies, this is the first study demonstrating that the joint effect of all these genes together, indeed, is associated with restenosis.

  6. How Is Genetic Testing Done? (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 ...

  7. Prenatal Genetic Screening Tests (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 ...

  8. Genetic susceptibility testing and readiness to control weight: Results from a randomized controlled trial

    NARCIS (Netherlands)

    Meisel, S.F.; Beeken, R.J.; Jaarsveld, C.H.M. van; Wardle, J.


    OBJECTIVE: To test the hypothesis that adding obesity gene feedback (FTO) to simple weight control advice at a life stage with raised risk of weight gain (university) increases readiness to control weight. METHODS: Individually randomized controlled trial comparing the effect of: (i) simple weight c

  9. Distance learning training in genetics and genomics testing for Italian health professionals: results of a pre and post-test evaluation

    Directory of Open Access Journals (Sweden)

    Maria Benedetta Michelazzo


    Full Text Available BackgroundProgressive advances in technologies for DNA sequencing and decreasing costs are allowing an easier diffusion of genetic and genomic tests. Physicians’ knowledge and confidence on the topic is often low and not suitable for manage this challenge. Tailored educational programs are required to reach a more and more appropriate use of genetic technologies.MethodsA distance learning course has been created by experts from different Italian medical associations with the support of the Italian Ministry of Health. The course was directed to professional figures involved in prescription and interpretation of genetic tests. A pretest-post-test study design was used to assess knowledge improvement. We analyzed the proportion of correct answers for each question pre and post-test, as well as the mean score difference stratified by gender, age, professional status and medical specialty.ResultsWe reported an improvement in the proportion of correct answers for 12 over 15 questions of the test. The overall mean score to the questions significantly increased in the post-test, from 9.44 to 12.49 (p-value < 0.0001. In the stratified analysis we reported an improvement in the knowledge of all the groups except for geneticists; the pre-course mean score of this group was already very high and did not improve significantly.ConclusionDistance learning is effective in improving the level of genetic knowledge. In the future, it will be useful to analyze which specialists have more advantage from genetic education, in order to plan more tailored education for medical professionals.

  10. Allelic Dropout in the ENG Gene, Affecting the Results of Genetic Testing in Hereditary Hemorrhagic Telangiectasia

    DEFF Research Database (Denmark)

    Tørring, Pernille M; Kjeldsen, A.D.; Ousager, L.B.


    Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder with three disease-causing genes identified to date: ENG, ACVRL1, and SMAD4. We report an HHT patient with allelic dropout that on routine sequence analysis for a known mutation in the family (c.817......-3T>G in ENG) initially seemed to be homozygous for the mutation. Aim: To explore the possibility of allelic dropout causing a false result in this patient. Methods: Mutation analysis of additional family members was performed and haplotype analysis carried out. New primers were designed to reveal...

  11. Genetic testing in hyperlipidemia. (United States)

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


    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.

  12. Effect on perceived control and psychological distress of genetic knowledge in women with breast cancer receiving a BRCA1/2 test result. (United States)

    Brédart, Anne; Kop, Jean-Luc; De Pauw, Antoine; Caron, Olivier; Fajac, Anne; Noguès, Catherine; Stoppa-Lyonnet, Dominique; Dolbeault, Sylvie


    Information provision during BRCA1/2 genetic counseling is complex and expected to be increasingly so with gene panel testing. This prospective study evaluated whether genetic knowledge in counselees with breast cancer (BC) after a pre-test genetic counseling visit (T1) enhance their feeling of personal control while minimizing distress after the notification of BRCA1/2 result (T2). At T1, 243 (89% response rate) counselees completed questionnaires on genetic knowledge (BGKQ), perceived cancer genetic risk; of which, at T2, 180 (66%) completed the BGKQ again, scales of anxiety/depression, distress specific to genetic risk, and perceived control. Multilevel models were performed accounting for clinician, and testing an effect of knowledge on psychological outcomes according to the adequacy of counselees' perceived genetic predisposition to cancer. The mean knowledge score was moderate at T1, decreased while not significantly differing by BRCA1/2 test result at T2. Knowledge at T1 had no direct effect on psychological outcomes, but in counselees who over-estimated their cancer genetic risk, higher knowledge at T1 predicted higher specific distress at T2. In BC affected counselees who over-estimate their cancer genetic risk, higher BRCA1/2 pre-test genetic knowledge seem to lead to increased specific distress. Identifying these BC affected counselees who over-estimate their genetic cancer risk and helping them to interpret their genetic knowledge instead of providing them with exhaustive genetic information could minimize their distress after test result receipt. Copyright © 2016 Elsevier Ltd. All rights reserved.

  13. The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011

    Directory of Open Access Journals (Sweden)

    F. Censi


    Full Text Available Since 2001 the Istituto Superiore di Sanità established a quality assurance programme for molecular genetic testing that covers four pathologies: Cystic Fibrosis (CF, Beta Thalassemia (BT, Fragile X Syndrome (FX, and Familial Adenomatous Polyposis Coli (APC. Since 2009 this activity is an institutional activity and participation is open to both public and private laboratories. Seven rounds have been performed until now and the eighth is in progress. Laboratories receive 4 DNA samples with mock clinical indications. They analyze the samples using their routine procedures. A panel of assessors review the raw data and the reports; all data are managed through a web utility. In 2010 the number of participants was 43, 17, 15, 5 for CF, BT, FX, APC schemes respectively. Genotyping results were correct in 96%, 98.5%, 100%, and 100% of CF, BT, FX, and APC samples, respectively. Interpretation was correct in 74%, 91%, 88%, and 60% of CF, BT, FX, and APC reports, respectively; however in most of them it was not complete but a referral to genetic counseling was given. Reports were satisfactory in more than 60% of samples in all schemes. This work presents the 2010 results in detail comparing our data with those from other European schemes.

  14. Genetic Influences on Blood Pressure Response to the Cold Pressor Test: Results from the HAPI Heart Study (United States)

    Roy-Gagnon, Marie-Hélène; Weir, Matthew R.; Sorkin, John D.; Ryan, Kathleen A.; Sack, Paul A.; Hines, Scott; Bielak, Lawrence F.; Peyser, Patricia A.; Post, Wendy; Mitchell, Braxton D.; Shuldiner, Alan R.; Douglas, Julie A.


    Blood pressure (BP) response to the cold pressor test (CPT) has been found to predict the development of hypertension and cardiovascular disease in prospective studies. However, the determinants of BP response to the CPT, including the role of genetic factors, are largely unknown. Additionally, to our knowledge, no study has examined the genetics of BP recovery from the CPT, including whether shared genetic factors influence both reactivity and recovery. As part of the Heredity and Phenotype Intervention (HAPI) Heart Study, we administered a 2½-minute hand CPT to 835 participants from 18 extended Amish families. We estimated the heritability of BP reactivity and recovery (measured by the incremental area under the curve) and the genetic correlations between baseline, reactivity, and recovery BP phenotypes. After adjustment for relevant covariates, including baseline BP, the heritability estimates for both systolic BP (SBP) and diastolic BP (DBP) reactivity and recovery differed significantly from zero (P<0.01), with 12–25% of the total variation in BP response attributable to additive genetic effects. The genetic correlations between baseline DBP and response phenotypes were not significantly different from 0, while the genetic correlation between DBP reactivity and recovery (0.74) was significantly different from 0 and one (P<0.005). The genetic correlation between SBP reactivity and recovery was similar (0.81, P<0.05). We conclude that, independent of baseline BP, BP response to the CPT is heritable, and that both shared and unshared genetic factors influence BP reactivity and recovery, thus stressing the importance of identifying genetic variants that influence both traits. PMID:18327083

  15. Cholesterol testing and results (United States)

    Cholesterol test results; LDL test results; VLDL test results; HDL test results; Coronary risk profile results; Hyperlipidemia- ... Some cholesterol is considered good and some is considered bad. Different blood tests can be done to measure each ...

  16. Genetic testing in domestic cats. (United States)

    Lyons, Leslie A


    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.

  17. Pitfalls in genetic testing

    DEFF Research Database (Denmark)

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


    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...

  18. Regulation of Genetic Tests (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 ...

  19. Frequently Asked Questions about Genetic Testing (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 ...

  20. Actuarial considerations on genetic testing. (United States)

    Le Grys, D J


    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.

  1. Obtaining genetic testing in pediatric epilepsy. (United States)

    Ream, Margie A; Patel, Anup D


    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.

  2. Short-term psychological impact of the BRCA1/2 test result in women with breast cancer according to their perceived probability of genetic predisposition to cancer. (United States)

    Brédart, A; Kop, J L; Depauw, A; Caron, O; Sultan, S; Leblond, D; Fajac, A; Buecher, B; Gauthier-Villars, M; Noguès, C; Flahault, C; Stoppa-Lyonnet, D; Dolbeault, S


    The effect of BRCA1/2 gene test result on anxiety, depression, cancer-related thought intrusion or avoidance and perceived control over cancer risk was assessed in breast cancer (BC) patients, according to their perceived probability of genetic predisposition to cancer. Two hundred and forty-three (89% response rate) women with BC completed questionnaires after an initial genetic counselling visit (T1), of which 180 (66%) completed questionnaires again after receiving the BRCA1/2 results (T2). The discrepancy between women's perceived probability of cancer genetic predisposition at T1 and the geneticist's computed estimates was assessed. In all, 74% of women received a negative uninformative (NU), 11% a positive BRCA1/2 and 15% an unclassified variant (UV) result. On hierarchical regression analysis, in women with a positive BRCA1/2 result (vs NU or UV), a lower perceived probability of cancer genetic predisposition than objective estimates at T1 predicted lower levels of anxiety at T2 (β=-0.28; Presult (vs NU or positive BRCA1/2), a lower perceived probability of cancer genetic predisposition than objective estimates at T1 predicted higher levels of anxiety (β=0.20; Presult differently affects distress according to women's perceived probability of genetic predisposition before testing.

  3. Does a medical history of hypertension influence disclosing genetic testing results of the risk for salt-sensitive hypertension, in primary care?

    Directory of Open Access Journals (Sweden)

    Okayama M


    Full Text Available Masanobu Okayama,1,2 Taro Takeshima,2 Masanori Harada,3 Ryusuke Ae,4 Eiji Kajii2 1Division of Community Medicine and Medical Education, Kobe University Graduate School of Medicine, Kobe, Hyogo, 2Division of Community and Family Medicine, Center for Community Medicine, Jichi Medical University, Shimotsuke, Tochigi, 3Department of Support of Rural Medicine, Yamaguchi Grand Medical Center, Hofu, Yamaguchi, 4Division of Public Health, Center for Community Medicine, Jichi Medical University, Shimotsuke, Tochigi, Japan Objective: Disclosing genetic testing results may contribute to the prevention and management of many common diseases. However, whether the presence of a disease influences these effects is unclear. This study aimed to clarify the difference in the effects of disclosing genetic testing results of the risk for developing salt-sensitive hypertension on the behavioral modifications with respect to salt intake in hypertensive and nonhypertensive patients.Methods: A cross-sectional study using a self-administered questionnaire was conducted for outpatients aged >20 years (N=2,237 at six primary care clinics and hospitals in Japan. The main factors assessed were medical histories of hypertension, salt preferences, reduced salt intakes, and behavior modifications for reducing salt intake. Behavioral modifications of participants were assessed using their behavior stages before and after disclosure of the hypothetical genetic testing results. Results: Of the 2,237 participants, 1,644 (73.5% responded to the survey. Of these respondents, 558 (33.9% patients were hypertensive and 1,086 (66.1% were nonhypertensive. After being notified of the result “If with genetic risk”, the nonhypertensive participants were more likely to make positive behavioral modifications compared to the hypertensive patients among all participants and in those aged <65 years (adjusted relative ratio [ad-RR], 1.76; 95% confidence interval, 1.12−2.76 and ad-RR, 1

  4. What Are the Types of Genetic Tests? (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 ...

  5. All in the family: evaluation of the process and content of sisters' communication about BRCA1 and BRCA2 genetic test results. (United States)

    Hughes, Chanita; Lerman, Caryn; Schwartz, Marc; Peshkin, Beth N; Wenzel, Lari; Narod, Steven; Corio, Camille; Tercyak, Kenneth P; Hanna, Danielle; Isaacs, Claudine; Main, David


    Despite the potential importance of family communication, little is known about the process and content of communicating BRCA1/2 test results to relatives. The objectives of this observational study were to describe the process and content of communicating BRCA1/2 test results to sisters, and to evaluate whether the proband's carrier status influenced communication outcomes. Participants were 43 women who were the first family member to have genetic testing (probands). Probands reported on communication outcomes for 81 sisters. Process and content variables were evaluated 1-month after receipt of BRCA1/2 test results using the Family Communication Questionnaire (FCQ). Overall, BRCA1/2 test results were communicated to 85% of sisters, and carriers communicated their results to significantly more sisters compared to uninformative (96% vs. 76%, FET = 0.02). The most important reason for communicating results was to provide genetic risk information; however, compared to uninformatives, carriers communicated their results to significantly more sisters to obtain emotional support (74%) and to get advice about medical decisions (42%) (FET = 0.001). Carriers also discussed the possibility of discrimination and recommendations for cancer management with significantly more sisters. Among sisters to whom BRCA1/2 test results were not communicated, the most important reason for not sharing test results was because of emotionally distant relationships. The results of this study suggest that probands are likely to quickly communicate their BRCA1/2 test results to relatives and that although needs for social support may motivate family communication, emotionally distant relationships may be a barrier to communication with relatives.

  6. GIRAFFE test results summary

    Energy Technology Data Exchange (ETDEWEB)

    Yokobori, S.; Arai, K.; Oikawa, H. [Toshiba Corporation, Kawasaki (Japan)


    A passive system can provide engineered safety features enhancing safety system reliability and plant simplicity. Toshiba has conducted the test Program to demonstrate the feasibility of the SBWR passive safety system using a full-height, integral system test facility GIRAFFE. The test facility GIRAFFE models the SBWR in full height to correctly present the gravity driving head forces with a 1/400 volume scale. The GIRAFFE test Program includes the certification tests of the passive containment cooling system (PCCS) to remove the post-accident decay heat and the gravity driven cooling system (GDCS) to replenish the reactor coolant inventory during a LOCA. The test results have confirmed the PCCS and GDCS design and in addition, have demonstrated the operation of the pCCS with the presence of a lighter-than-steam noncondensable as well as with the presence of a heavier-than-steam, noncondensable. The GIRAFFE test Program has also provided the database to qualify a best estimate thermal-hydraulic computer code TRAC. The post test analysis results have shown that TRAC can accurately predict the PCCS heat removal Performance and the containment pressure response to a LOCA. This paper summarizes the GIRAFFE test results to investigate post-LOCA PCCS heat removal performance and post-test analysis using TRAC.

  7. Genetic Testing Registry (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) ...

  8. Lactose Malabsorption Testing in Daily Clinical Practice: A Critical Retrospective Analysis and Comparison of the Hydrogen/Methane Breath Test and Genetic Test (C/T-13910 Polymorphism Results

    Directory of Open Access Journals (Sweden)

    Dietmar Enko


    Full Text Available The aim of this study was to establish a retrospective evaluation and comparison of the hydrogen/methane (H2/CH4 breath test and genetic test (C/T−13910 polymorphism results in lactose malabsorption testing. In total 263 consecutive patients with suspected lactose malabsorption were included in this study. They underwent the H2/CH4 breath test following the ingestion of 50 g lactose and were tested for the C/T−13910 polymorphism. In total 51 patients (19.4% had a C/C−13910 genotype, indicating primary lactose malabsorption. Only 19 patients (7.2% also had a positive H2/CH4 breath test. All in all 136 patients (51.69% had a C/T−13910 and 76 patients (28.91% a T/T−13910 genotype, indicating lactase persistence. Four patients (1.5% with the C/T−13910 genotype and one patient (0.4% with the T/T−13910 genotype had a positive H2/CH4 breath test result, indicating secondary lactose malabsorption. Cohen's Kappa measuring agreement between the two methods was 0.44. Twenty patients (7.6% with a positive H2/CH4 peak within 60 minutes after lactose ingestion were classified as patients with lactose-dependent small intestinal bacterial overgrowth (SIBO. In conclusion, only moderate agreement between the breath test and the genetic test was shown. Secondary lactose malabsorption as well as preanalytical limitations of the combined H2/CH4 breath test procedure can cause discrepant results. This trial is registered with K-42-13.

  9. Genetic Test Results and Disclosure to Family Members: Qualitative Interviews of Healthcare Professionals' Perceptions of Ethical and Professional Issues in France. (United States)

    D' Audiffret Van Haecke, Diane; de Montgolfier, Sandrine


    The benefit of disclosing test results to next of kin is to improve prognosis and-in some cases-even prevent death though earlier monitoring or preventive therapies. Research on this subject has explored the question of intra-familial communication from the standpoint of patients and relatives but rarely, from the standpoint of healthcare professionals. The purpose of this study was to interview relevant healthcare professionals in France, where legislation framing the issue was recently passed. A qualitative study consisting of semi-structured interviews was set up to get a clearer picture of the challenges arising from this issue, its consequences in terms of medical care-service practices, and the positions that frontline professionals have taken in response to this new legal framework. The findings from eight interviews with 7 clinical geneticists and 1 genetic counselor highlight very different patterns of practices among care services and among the genetic diseases involved. It is equally crucial to investigate other issues such as the nature of genetic testing and its consequences in terms of disclosing results to kin, the question of the role of genetic counseling in the disclosure process, the question of prescription by non-geneticist clinicians, and practical questions linked to information content, consent and medical follow-up for patients and their relatives.

  10. Ibis DDT test results (United States)

    US Fish and Wildlife Service, Department of the Interior — This document contains test results from a study done to determine the organochlorine levels in the livers of white-faced ibis from Stillwater Wildlife Management...

  11. Behavioural changes, sharing behaviour and psychological responses after receiving direct-to-consumer genetic test results: a systematic review and meta-analysis. (United States)

    Stewart, Kelly F J; Wesselius, Anke; Schreurs, Maartje A C; Schols, Annemie M W J; Zeegers, Maurice P


    It has been hypothesised that direct-to-consumer genetic tests (DTC-GTs) could stimulate health behaviour change. However, genetic testing may also lead to anxiety and distress or unnecessarily burden the health care system. The aim is to review and meta-analyse the effects of DTC-GT on (1) behaviour change, (2) psychological response and (3) medical consumption. A systematic literature search was performed in three databases, using "direct-to-consumer genetic testing" as a key search term. Random effects meta-analyses were performed when at least two comparable outcomes were available. After selection, 19 articles were included involving 11 unique studies. Seven studies involved actual consumers who paid the retail price, whereas four included participants who received free genetic testing as part of a research trial (non-actual consumers). In meta-analysis, 23% had a positive lifestyle change. More specifically, improved dietary and exercise practices were both reported by 12%, whereas 19% quit smoking. Seven percent of participants had subsequent preventive checks. Thirty-three percent shared their results with any health care professional and 50% with family and/or friends. Sub-analyses show that behaviour change was more prevalent among non-actual consumers, whereas sharing was more prevalent among actual consumers. Results on psychological responses showed that anxiety, distress and worry were low or absent and that the effect faded with time. DTC-GT has potential to be effective as a health intervention, but the right audience needs to be addressed with tailored follow-up. Research is needed to identify consumers who do and do not change behaviour or experience adverse psychological responses.

  12. Genetic testing in cardiovascular diseases. (United States)

    Arndt, Anne-Karin; MacRae, Calum A


    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.

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

    Directory of Open Access Journals (Sweden)

    Alaa J. Hamada


    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.

  14. A comprehensive review of genetics and genetic testing in azoospermia. (United States)

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


    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.

  15. A comprehensive review of genetics and genetic testing in azoospermia (United States)

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


    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

  16. [Consent to genetic paternity testing]. (United States)

    Lach, Arkadiusz; Linkowska, Katarzyna; Grzybowski, Tomasz


    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.

  17. Genetic testing and risk interpretation

    Directory of Open Access Journals (Sweden)

    Talya Miron-Shatz


    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.

  18. Prenatal Genetic Diagnostic Tests (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 ...

  19. Genetic Testing (For Parents) (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 ...

  20. Prenatal Genetic Testing Chart (United States)

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

  1. Attitudes towards genetic testing: analysis of contradictions

    DEFF Research Database (Denmark)

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


    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....

  2. Results of Evolution Supervised by Genetic Algorithms

    CERN Document Server

    Jäntschi, Lorentz; Bălan, Mugur C; Sestraş, Radu E


    A series of results of evolution supervised by genetic algorithms with interest to agricultural and horticultural fields are reviewed. New obtained original results from the use of genetic algorithms on structure-activity relationships are reported.

  3. Understanding Your Test Results (United States)

    ... serum: IgA, IgM, and IgG. It measures both polyclonal (normal) and monoclonal (myeloma-related) immunoglobulin, so if an increase in one of the antibody isotypes is found, further testing with electrophoresis is ...

  4. Disclosing Huntington's Genetic Testing Results in the Context of Intellectual Disability and Guardianship: Using the Family Illness Narrative to Guide the Flow of Information. (United States)

    Warren, Mark B; Schak, Kathryn M


    A diagnosis of Huntington's disease has broad social, vocational, reproductive and psychological implications. The ability to accurately diagnose the illness via genetic testing is not new. However, given a persistent lack of robustly effective interventions, it remains an area of ethical concern. The difficulty is compounded in cases of intellectual disability. This paper presents a case of genetic testing for Huntington's disease conducted on a patient with intellectual disability with guardian consent, but without the patient's direct knowledge and how the family illness narrative and psychiatric care were employed in the eventual disclosure of the patient's diagnosis and subsequent management.

  5. The value of cardiac genetic testing. (United States)

    Ingles, Jodie; Semsarian, Christopher


    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.

  6. Analysis of 2 654 cases of non invasive prenatal genetic test results%2654例无创产前基因检测结果分析

    Institute of Scientific and Technical Information of China (English)

    冯暄; 闫有圣; 胡秀琴; 郝胜菊; 张庆华; 郑雷


    目的:探讨无创产前基因检测在胎儿染色体非整倍体疾病诊断中的临床应用价值。方法选择在该院行胎儿染色体非整倍体无创基因检测的单胎孕妇2654例,对孕妇外周血中游离DNA 进行高通量测序,对检测结果高风险者进行羊膜腔穿刺及胎儿染色体核型分析,对检测结果阴性者进行电话随访。结果2654例孕妇无创基因检测结果高风险29例,包括21‐三体14例,18‐三体6例,47,XXY 5例,45,XO 2例,常染色体异常1例,母体染色体异常1例。对29例高风险孕妇行羊膜腔穿刺羊水细胞染色体核型分析,结果显示21‐三体11例,18‐三体5例,性染色体异常4例。结论无创产前基因检测在诊断胎儿染色体非整倍体异常有较高的特异性和准确性,有较高的临床应用价值,但存在一定的假阳性,应掌握指征。%Objective To explore the clinical value of noninvasive prenatal genetic testing in diagnosis of fetal chromosomal non‐integral disease .Methods A total of 2 654 pregnant women receiving fetal chromosomal aneuploidy noninvasive prenatal genetic testing in the hospital were selected ,high‐throughput sequencing of free DNA in peripheral blood of pregnant women was conduc‐ted ,amniocentesis and fetal karyotyping were carried out among the high risk pregnant women ,the negative pregnant women were followed up by telephone .Results Among 2 654 pregnant women ,29 high risk pregnant women were found by noninvasive prenatal genetic testing ,including 14 cases with trisomy 21 ,6 cases with trisomy 18 ,5 cases with 47 ,XXY ,2 cases with 45 ,XO ,1 cases with abnormal chromosome ,1 cases with maternal chromosome abnormalities .29 cases of high‐risk pregnant women with amniotic fluid cell chromosome karyotype analysis ,the results show that 11 cases with trisomy 21 ,5 cases with trisomy 18 ,4 cases with sex chro‐mosome abnormalities .Conclusion Noninvasive prenatal genetic

  7. Your Kidney Test Results (United States)

    ... Less than 200 Your Result: HDL Cholesterol LDL Cholesterol Triglycerides Hemoglobin (Hgb) *Normal ranges may vary. Normal: More ... out of your arteries. LDL is the bad cholesterol and can clog your arteries. Triglyceride is a type of fat in the blood. ...

  8. Inbreeding and genetic diversity in dogs: results from DNA analysis. (United States)

    Wade, Claire M


    This review assesses evidence from DNA analysis to determine whether there is sufficient genetic diversity within breeds to ensure that populations are sustainable in the absence of cross breeding and to determine whether genetic diversity is declining. On average, dog breeds currently retain approximately 87% of the available domestic canine genetic diversity. Requirements that breeding stock must be 'clear' for all genetic disorders may firstly place undue genetic pressure on animals tested as being 'clear' of known genetic disorders, secondly may contribute to loss of diversity and thirdly may result in the dissemination of new recessive disorders for which no genetic tests are available. Global exchange of genetic material may hasten the loss of alleles and this practice should be discussed in relation to the current effective population size of a breed and its expected future popularity. Genomic data do not always support the results from pedigree analysis and possible reasons for this are discussed.

  9. Pressure locking test results

    Energy Technology Data Exchange (ETDEWEB)

    DeWall, K.G.; Watkins, J.C.; McKellar, M.G.; Bramwell, D. [Idaho National Engineering Lab., Idaho Falls, ID (United States)] [and others


    The U.S. Nuclear Regulatory Commission (NRC), Office of Nuclear Regulatory Research, is funding the Idaho National Engineering Laboratory (INEL) in performing research to provide technical input for their use in evaluating responses to Generic Letter 95-07, {open_quotes}Pressure Locking and Thermal Binding of Safety-Related Power-Operated Gate Valves.{close_quotes} Pressure locking and thermal binding are phenomena that make a closed gate valve difficult to open. This paper discusses only the pressure locking phenomenon in a flexible-wedge gate valve; the authors will publish the results of their thermal binding research at a later date. Pressure locking can occur when operating sequences or temperature changes cause the pressure of the fluid in the bonnet (and, in most valves, between the discs) to be higher than the pressure on the upstream and downstream sides of the disc assembly. This high fluid pressure presses the discs against both seats, making the disc assembly harder to unseat than anticipated by the typical design calculations, which generally consider friction at only one of the two disc/seat interfaces. The high pressure of the bonnet fluid also changes the pressure distribution around the disc in a way that can further contribute to the unseating load. If the combined loads associated with pressure locking are very high, the actuator might not have the capacity to open the valve. The results of the NRC/INEL research discussed in this paper show that the relationship between bonnet pressure and pressure locking stem loads appears linear. The results also show that for this valve, seat leakage affects the bonnet pressurization rate when the valve is subjected to thermally induced pressure locking conditions.

  10. Organic Separation Test Results

    Energy Technology Data Exchange (ETDEWEB)

    Russell, Renee L.; Rinehart, Donald E.; Peterson, Reid A.


    Separable organics have been defined as “those organic compounds of very limited solubility in the bulk waste and that can form a separate liquid phase or layer” (Smalley and Nguyen 2013), and result from three main solvent extraction processes: U Plant Uranium Recovery Process, B Plant Waste Fractionation Process, and Plutonium Uranium Extraction (PUREX) Process. The primary organic solvents associated with tank solids are TBP, D2EHPA, and NPH. There is concern that, while this organic material is bound to the sludge particles as it is stored in the tanks, waste feed delivery activities, specifically transfer pump and mixer pump operations, could cause the organics to form a separated layer in the tank farms feed tank. Therefore, Washington River Protection Solutions (WRPS) is experimentally evaluating the potential of organic solvents separating from the tank solids (sludge) during waste feed delivery activities, specifically the waste mixing and transfer processes. Given the Hanford Tank Waste Treatment and Immobilization Plant (WTP) waste acceptance criteria per the Waste Feed Acceptance Criteria document (24590-WTP-RPT-MGT-11-014) that there is to be “no visible layer” of separable organics in the waste feed, this would result in the batch being unacceptable to transfer to WTP. This study is of particular importance to WRPS because of these WTP requirements.

  11. Confronting Science: The Dilemma of Genetic Testing. (United States)

    Zallen, Doris T.


    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)

  12. Confronting Science: The Dilemma of Genetic Testing. (United States)

    Zallen, Doris T.


    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)

  13. Genetic Testing: MedlinePlus Health Topic (United States)

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

  14. Results of an intervention for individuals and families with BRCA mutations: a model for providing medical updates and psychosocial support following genetic testing. (United States)

    McKinnon, Wendy; Naud, Shelly; Ashikaga, Taka; Colletti, Rose; Wood, Marie


    : Providing medical management updates and long-term support to families with hereditary cancer syndromes in rural areas is a challenge. To address this, we designed a one-day retreat for BRCA1/2 carriers in our region. The retreat included educational updates about medical management, genetic privacy and discrimination, and addressed psychological and family issues. Evaluations completed at the conclusion of the retreat were overwhelmingly positive with requests for a similar event in the future. The impact of this retreat on a variety of health behaviors was assessed. Eligible participants completed questionnaires before and 6 months after the retreat. Questionnaires focused on lifestyle, cancer screening and prevention practices, psychological history and distress, decision-making regarding genetic testing, and family communication issues. For individuals who completed both the pre and post retreat questionnaires, one-half made lifestyle changes and nearly two-thirds increased cancer screening, initiated chemoprevention, completed or planned to complete preventative surgery in the future. We conclude that this type of forum provides a valuable opportunity for BRCA carriers and their families to receive updated medical information, share personal experiences, provide and receive support, as well as change health behaviors.

  15. [Quality assurance in human genetic testing]. (United States)

    Stuhrmann-Spangenberg, Manfred


    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.

  16. Perceiving cancer-risks and heredity-likelihood in genetic-counseling : how counselees recall and interpret BRCA1/2-test results

    NARCIS (Netherlands)

    Vos, J.; Oosterwijk, J. C.; Gomez-Garcia, E.; Menko, F. H.; Stoel, R. D.; van Asperen, C. J.; Tibben, A.; Stiggelbout, A. M.; JANSEN, AM


    Previous studies on the counsellees' perception of DNA test results did not clarify whether counsellees were asked about their recollections or interpretations, and focused only on patients' own risks and not on the likelihood that cancer is heritable in the family. We tested differences and correla

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


    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

  18. The Case against Preadoption Genetic Testing. (United States)

    Freundlich, Madelyn D.


    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)

  19. Genetic tests to identify risk for breast cancer. (United States)

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


    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.

  20. What Are the Risks and Limitations of Genetic Testing? (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 ( ...

  1. ISOCAM experiment cryogenic test results (United States)

    de Sa, L.; Collaudin, B.

    The thermal requirements for ISOCAM, an IR camera to be mounted aboard the ISO satellite, are reviewed, and model predictions are matched with test results. The degree of model validation suggested by analytical prediction vs test results is described. Predictions of thermal conduction through mounting screws, from ball bearings, and of the heat distribution in the rotor and stator of a cryogenic stepper motor correlate well with actual test results. It is shown that ISOCAM meets the thermal requirements necessary for successful on-orbit operation. The model predicted such phenomena as 'chopped' motor function and the twofold increase in temperature resulting from continuous motor operation.

  2. What Is Genetic Ancestry Testing? (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 ...

  3. Knowledge, Attitudes, and Practice Regarding Genetic Testing and Genetic Counselors in Jordan: A Population-Based Survey. (United States)

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


    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.

  4. Testing for Genetically Modified Foods Using PCR (United States)

    Taylor, Ann; Sajan, Samin


    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…

  5. Direct-to-Consumer Genetic Tests (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 ...

  6. Testing for Genetically Modified Foods Using PCR (United States)

    Taylor, Ann; Sajan, Samin


    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…

  7. Genes and genetic testing in hereditary ataxias. (United States)

    Sandford, Erin; Burmeister, Margit


    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.

  8. NCV Flow Diagnostic Test Results (United States)

    Cappuccio, Mina


    There were two objectives for this test. First, was to assess the reasons why there is approximately 1.5 drag counts (cts) discrepancy between measured and computed drag improvement of the Non-linear Cruise Validation (NCV) over the Technology Concept Airplane (TCA) wing body (WB) configurations. The Navier-Stokes (N-S) pre-test predictions from Boeing Commercial Airplane Group (BCAG) show 4.5 drag cts of improvement for NCV over TCA at a lift coefficient (CL) of 0. I at Mach 2.4. The pre-test predictions from Boeing Phantom Works - Long Beach, BPW-LB, show 3.75 drag cts of improvement. BCAG used OVERFLOW and BPW-LB used CFL3D. The first test entry to validate the improvement was held at the NASA Langley Research Center (LARC) UPV;T, test number 1687. The experimental results showed that the drag improvement was only 2.6 cts, not accounting for laminar run and trip drag. This is approximately 1.5 cts less than predicted computationally. In addition to the low Reynolds Number (RN) test, there was a high RN test in the Boeing Supersonic Wind Tunnel (BSWT) of NCV and TCA. BSV@T test 647 showed that the drag improvement of NCV over TCA was also 2.6 cts, but this did account for laminar run and trip drag. Every effort needed to be done to assess if the improvement measured in LaRC UPWT and BSWT was correct. The second objective, once the first objective was met, was to assess the performance increment of NCV over TCA accounting for the associated laminar run and trip drag corrections in LaRC UPWT. We know that the configurations tested have laminar flow on portions of the wing and have trip drag due to the mechanisms used to force the flow to go from laminar to turbulent aft of the transition location.

  9. Media coverage of direct-to-consumer genetic testing. (United States)

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


    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.

  10. Genetic testing for inheritable cardiac channelopathies. (United States)

    Szepesváry, Eszter; Kaski, Juan Pablo


    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.

  11. Genetic testing and your cancer risk (United States)

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

  12. [Genetic diagnostic testing in inherited retinal dystrophies]. (United States)

    Kohl, S; Biskup, S


    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.

  13. 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


    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.

  14. Ethics, policy, and educational issues in genetic testing. (United States)

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


    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.

  15. Implementation and utilization of genetic testing in personalized medicine

    Directory of Open Access Journals (Sweden)

    Abul-Husn NS


    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

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

    Directory of Open Access Journals (Sweden)

    Dušanka Savić Pavićević


    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.

  17. Acceptance of Genetic Testing in a General Population: Age, Education and Gender Differences. (United States)

    Aro, A. R.; Hakonen, A.; Hietala, M.; Lonnqvist, J.; Niemela, P.; Peltonen, L; Aula, P.


    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.…

  18. Acceptance of genetic testing in a general population

    DEFF Research Database (Denmark)

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


    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...

  19. RSG Deployment Case Testing Results

    Energy Technology Data Exchange (ETDEWEB)

    Owsley, Stanley L.; Dodson, Michael G.; Hatchell, Brian K.; Seim, Thomas A.; Alexander, David L.; Hawthorne, Woodrow T.


    The RSG deployment case design is centered on taking the RSG system and producing a transport case that houses the RSG in a safe and controlled manner for transport. The transport case was driven by two conflicting constraints, first that the case be as light as possible, and second that it meet a stringent list of Military Specified requirements. The design team worked to extract every bit of weight from the design while striving to meet the rigorous Mil-Spec constraints. In the end compromises were made primarily on the specification side to control the overall weight of the transport case. This report outlines the case testing results.

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

  1. 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.


    Directory of Open Access Journals (Sweden)

    Mariela Yaneva – Deliverska


    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

  3. ENRtool - BesTest results

    DEFF Research Database (Denmark)

    Wittchen, Kim Bjarne


    Test af beregninger gennemført med ENRtool over for BesTest valideringen under klimatiske forhold for Denver, Colorado.......Test af beregninger gennemført med ENRtool over for BesTest valideringen under klimatiske forhold for Denver, Colorado....

  4. Family Secrets: The Bioethics of Genetic Testing (United States)

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


    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,…

  5. Genetic Testing in Huntington’s Disease


    J Gordon Millichap


    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.

  6. Genetic testing and sports medicine ethics. (United States)

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


    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.

  7. Prognostic Factors for Distress After Genetic Testing for Hereditary Cancer. (United States)

    Voorwinden, Jan S; Jaspers, Jan P C


    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. Test Results for CSTR Test 4

    Energy Technology Data Exchange (ETDEWEB)

    Lee, D.D.


    One of the 3 technologies currently being developed for the Savannah River Salt Waste Processing Program is the Small-Tank Tetraphenylborate Process (STTP). This process uses sodium tetraphenylborate to precipitate and remove radioactive Cs from the waste and monosodium titanate to sorb and remove radioactive Sr and actinides. ORNL is demonstrating this process at the 1:4000 scale using a 20-liter continuous-flow stirred tank reactor (CSTR) system. The primary goal of Test 4 was to verify that the STTP process could achieve and maintain the necessary Cs decontamination while TPB was actively decomposing. Even with TPB being decomposed by the off-normal conditions of this test, the decontaimination factor for {sup 137}Cs obtained for the filtrate from the Slurry Concentrating Tank ranged from 47,000 to 646,000, exceeding the WAC standard.

  9. Genetic testing of the general population: ethical and informatic concerns. (United States)

    Smith, K


    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.

  10. Clopidogrel and genetic testing: is it necessary for everyone? (United States)

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


    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.


    Directory of Open Access Journals (Sweden)

    Luigi Cavazza


    Full Text Available An oedotensiometer was used to examine to examine the behaviour of sieved sample of a swelling soil (a vertisol as well as of the same soils treated with solution of Na+ + Ca2+ to simulate the soil changes from excessive irrigation with brackish water. The oedometer test consisted in an infiltration of water from below through a ceramic porous plate at a feeding pressure of +10 cm water and successive drainage under a depression mostly of -112 cm of water. The rate of water entry as well as the swelling rate of the sample were monitored. Preliminary considerations regards the domains in which the shrinkage curve of a swelling soil is subdivided and make hypothesis on the swelling process expected when the infiltration from below of the sample is applied. The results support the hypothesis that when the water pressure is applied some water enters rather rapidly in the larger structural pores and is followed later by the swelling in the smaller pores, responsible for the basic domain. This first conclusion demonstrates that the assumption of a simultaneous movement of solid and liquid components in the sample, which is the base of most theoretical developments for swelling soils, cannot be accepted for the tested samples. Some cases with water clogging on the sample surface confirm a late final swelling of the soil and permitted to evaluate the hydraulic conductivity of the swollen soil. These manifestations are more evident in sodicated soils. The loading of the sample reduces the swelling of the sample and seems to reduce its permeability. The reduction of the feeding water pressure further reduces the sample swelling. The draining process from saturated soil sample shows that most of the process occurs in the large pores of the structural domain. This gives the possibility to evaluate the water diffusivity coefficient for the structural domain of the sample. In draining the soil with the highest sodication there was a variation of soil volume

  12. Results of Aluminosilicate Inhibitor Testing

    Energy Technology Data Exchange (ETDEWEB)

    Wilmarth, W.R.


    The aluminosilicate scale in the 2H Evaporator has precluded operation since late 1999. The chemistry of scale formation is known but the mechanism(s) for deposition are not well understood. Tests have been conducted to determine if chemical agents could prevent aluminosilicate formation under conditions similar to Tank 43H. Additionally, particle growth inhibition is also tested.

  13. Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees' perception, the medical impact by the pathogenic or uninformative BRCA1/2-result

    NARCIS (Netherlands)

    Vos, Joel; Gomez-Garcia, Encarna; Oosterwijk, Jan C.; Menko, Fred H.; Stoel, Reinoud D.; van Asperen, Christi J.; Stiggelbout, Anne M.; Tibben, Aad; JANSEN, AM


    Background: It has been hypothesized that the Outcomes of DNA testing (O) are better predicted and/or mediated by the counselees' Perception P) than by the actually communicated genetic Information (I). In this study, we aimed at quantifying the effect that perception has in genetic counseling for h

  14. Genetic testing and genetic counseling in patients with sudden death risk due to heritable arrhythmias. (United States)

    Spoonamore, Katherine G; Ware, Stephanie M


    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.

  15. [Study on tests of genetics experiments in universities]. (United States)

    Jie, He; Hao, Zhang; Lili, Zhang


    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.

  16. [Present condition and problem of presymptomatic genetic testing]. (United States)

    Kukinaka, Chieko


    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.

  17. Chemical compatibility screening test results

    Energy Technology Data Exchange (ETDEWEB)

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


    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.

  18. Predictivity, genetic tests and insurance law. (United States)

    Romeo Casabona, Carlos Maria


    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.

  19. Ultrasonic Transducer Irradiation Test Results

    Energy Technology Data Exchange (ETDEWEB)

    Daw, Joshua [Idaho National Lab. (INL), Idaho Falls, ID (United States); Palmer, Joe [Idaho National Lab. (INL), Idaho Falls, ID (United States); Ramuhalli, Pradeep [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Keller, Paul [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Montgomery, Robert [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Chien, Hual-Te [Argonne National Lab. (ANL), Argonne, IL (United States); Kohse, Gordon [MIT (Massachusetts Inst. of Technology), Cambridge, MA (United States); Tittmann, Bernhard [Pennsylvania State Univ., University Park, PA (United States); Reinhardt, Brian [Pennsylvania State Univ., University Park, PA (United States); Rempe, Joy [Rempe and Associates, Idaho Falls, ID (United States)


    Ultrasonic technologies offer the potential for high-accuracy and -resolution in-pile measurement of a range of parameters, including geometry changes, temperature, crack initiation and growth, gas pressure and composition, and microstructural changes. Many Department of Energy-Office of Nuclear Energy (DOE-NE) programs are exploring the use of ultrasonic technologies to provide enhanced sensors for in-pile instrumentation during irradiation testing. For example, the ability of small diameter ultrasonic thermometers (UTs) to provide a temperature profile in candidate metallic and oxide fuel would provide much needed data for validating new fuel performance models. Other ongoing efforts include an ultrasonic technique to detect morphology changes (such as crack initiation and growth) and acoustic techniques to evaluate fission gas composition and pressure. These efforts are limited by the lack of identified ultrasonic transducer materials capable of long term performance under irradiation test conditions. For this reason, the Pennsylvania State University (PSU) was awarded an ATR NSUF project to evaluate the performance of promising magnetostrictive and piezoelectric transducers in the Massachusetts Institute of Technology Research Reactor (MITR) up to a fast fluence of at least 1021 n/cm2. The goal of this research is to characterize and demonstrate magnetostrictive and piezoelectric transducer operation during irradiation, enabling the development of novel radiation-tolerant ultrasonic sensors for use in Material Testing Reactors (MTRs). As such, this test is an instrumented lead test and real-time transducer performance data is collected along with temperature and neutron and gamma flux data. The current work bridges the gap between proven out-of-pile ultrasonic techniques and in-pile deployment of ultrasonic sensors by acquiring the data necessary to demonstrate the performance of ultrasonic transducers. To date, one piezoelectric

  20. What Is Direct-to-Consumer Genetic Testing? (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 ...

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

    NARCIS (Netherlands)

    Voorwinden, Jan S; Jaspers, Jan P C


    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

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

    NARCIS (Netherlands)

    Voorwinden, Jan S.; Jaspers, Jan P C


    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

  3. 2008 NWFSC Tidal Freshwater Genetics Results

    Energy Technology Data Exchange (ETDEWEB)

    David Teel


    Genetic Analysis of Juvenile Chinook Salmon for inclusion in 'Ecology of Juvenile Salmon in Shallow Tidal Freshwater Habitats in the Vicinity of the Sandy River Delta, Lower Columbia River, 2008. Annual Report to Bonneville Power Administration, Contract DE-AC05-76RL01830.'

  4. Genetic counseling issues in predictive genetic testing for familial adult-onset neurologic diseases. (United States)

    Burson, C M; Markey, K R


    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.

  5. Genetic testing by cancer site: endocrine system. (United States)

    Pilarski, Robert; Nagy, Rebecca


    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.

  6. Guidelines for genetic testing of inherited cardiac disorders. (United States)

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


    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.

  7. 40 CFR 799.12 - Test results. (United States)


    ... 40 Protection of Environment 31 2010-07-01 2010-07-01 true Test results. 799.12 Section 799.12... results. Except as set forth in specific chemical test rules in subpart B of this part, a positive or negative test result in any of the tests required under subpart B is defined in the TSCA test guidelines...

  8. Genetic Testing in a Drama and Discussion Workshop: Exploring Knowledge Construction (United States)

    Dawson, Emily; Hill, Anne; Barlow, John; Weitkamp, Emma


    In this pilot project, drama was used to situate genetic testing in a social and cultural context--that of the family. The drama was used to stimulate discussion about social issues relating to genetic testing, such as who has the right to know the results of the test and whether participants would want to know their "genetic future". A…

  9. [Huntington disease: presymptomatic testing, prenatal diagnosis, preimplantation genetic diagnosis experience]. (United States)

    Durr, A; Viville, S


    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.

  10. Clinical genetic testing of periodic fever syndromes. (United States)

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


    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.

  11. Clinical Genetic Testing of Periodic Fever Syndromes

    Directory of Open Access Journals (Sweden)

    Annalisa Marcuzzi


    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.

  12. Genetic Testing for Breast Cancer: Psychological and Social Impact (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' ...

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

  14. Secretary's advisory committee on genetic testing: its emerging role in public policy deliberation on genetic tests. (United States)

    Carr, S; Goodwin, S M


    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.

  15. Genetic Testing and Its Implications: Human Genetics Researchers Grapple with Ethical Issues. (United States)

    Rabino, Isaac


    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)

  16. Causal attributions of obese men and women in genetic testing: implications of genetic/biological attributions. (United States)

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


    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.

  17. [A novel approach to techniques in genetic testing for cancer]. (United States)

    Kato, Jun-ichi


    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.

  18. Abnormal Cervical Cancer Screening Test Results (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? • ...

  19. Common Diagnostic Test Results Over the Years

    Directory of Open Access Journals (Sweden)

    Aruvee Eve


    Full Text Available In this article, common test results over the years 2000 – 2016 are analysed. The test questions for new entrants were based on secondary school mathematics. The students took the test in the first lesson of the higher mathematics course. The test results were analysed by years, by tasks and by specialities, and their differences were found. The test results’ dependence on state-exams score was studied and other types of dependence were looked at.

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

    NARCIS (Netherlands)

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


    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

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

    NARCIS (Netherlands)

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


    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

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

    NARCIS (Netherlands)

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


    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

  3. Paragangliomas/Pheochromocytomas: Clinically Oriented Genetic Testing

    Directory of Open Access Journals (Sweden)

    Rute Martins


    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.

  4. Interactive Diagnostic Testing: Field Trial Results. (United States)

    McArthur, David L.; Cabello, Beverly

    A diagnostic testing system managed by microcomputer was evaluated in actual use at the upper elementary level. Two tests specifically designed to yield diagnostic indicators of erroneous performance were utilized, one a test of pronoun usage, the other a test of reading comprehension. The results are interpreted from the standpoint of the…

  5. [Issues on business of genetic testing in near future]. (United States)

    Takada, Fumio


    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.

  6. Ethical considerations of genetic presymptomatic testing for Huntington's disease. (United States)

    Coustasse, Alberto; Pekar, Alicia; Sikula, Andrew; Lurie, Sue


    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.


    Institute of Scientific and Technical Information of China (English)

    WU Jihua; XIE Minyu; PENG Rong; SUN Zhihua


    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.

  8. Do patents impede the provision of genetic tests in Australia? (United States)

    Nicol, Dianne; Liddicoat, John


    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

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

    DEFF Research Database (Denmark)

    Laegsgaard, Mett Marri; Mors, Ole


    and counseling, we surveyed attitudes toward psychiatric genetic testing among 397 patients with a psychiatric diagnosis, 164 of their relatives and 100 medical and psychology students. The results showed widespread interest in psychiatric genetic testing of self and child, but less support for prenatal testing...... as a guide in this field, but the optimal utilization of genetic testing has also been recognized to depend on knowledge of the potential consumers' attitudes. To provide knowledge to inform the public debate on mental illness and genetics, and the future conducting of psychiatric genetic testing....... Psychiatric and somatic genetic testing attracted the same amounts of accept. General attitudes toward access to psychiatric genetic testing and information revealed substantial support for bioethical principles of autonomy and privacy. However, questions describing more specific situations revealed...

  10. Optimal Trend Tests for Genetic Association Studies of Heterogeneous Diseases. (United States)

    Lee, Wen-Chung


    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.

  11. Counseling customers: emerging roles for genetic counselors in the direct-to-consumer genetic testing market. (United States)

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


    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.

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

    NARCIS (Netherlands)

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


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

  13. Genetic Testing in the Workplace: A Caste System for Workers? (United States)

    Samuels, Sheldon W.


    "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)

  14. Bioethical – Theological and Legal approach in genetic testing of adult persons

    Directory of Open Access Journals (Sweden)

    George Katsimigas


    Full Text Available Thorough genetic testing gives possibility's diagnosis of genetic diseases or identity individuals, who genetic predisposed for disease outbreak Aims: To present/identify the ethical and religious issues, which arise from the application of genetic testing in humans. Furthermore, the principles from the European and Greek legislation regarding genetic testing will be discussed. Materials & Methods: A literature review based on both review and research literature, conducted during the period of (1993-2010, derived from MEDLINE, SCOPUS and ΙΑΤΡΟΤΕΚ databases using as key words: Bioethics, genetic testing, bioethics, access, genetic information, orthodox ethics, Legislation. Results: Genetic testing for disease prevention is of primary importance. The main ethical concerns however, are related to the dissemination/ disclosure and use of this information from insurance companies, healthcare authorities, scientists, forensic departments/services and employers. Similarly, the orthodox religion accepts the use of genetic testing for the prevention and treatment of diseases as long as there is no break of confidentiality. Finally, considering the legal issues, it is apparent that genetic information is regarded as personal information and as such it is protected from the national (Greek and international law. Conclusions: It is necessary to ensure that the public authorities protect the rights of their citizens regarding genetic testing and all insurance companies, employers, schools etc. should not be allowed to have access to genetic information. Such an approach will ensure that social discrimination, obstructions or other inequalities between people on the basis of genetic information is avoided.

  15. Consumer preferences for the predictive genetic test for Alzheimer disease. (United States)

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


    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.

  16. 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...

  17. 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...

  18. [Survey on the attitude toward genetic testing of neurologists certified by the Japanese Society of Neurology]. (United States)

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


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

  19. Commercial Genetic Testing and Its Governance in Chinese Society (United States)

    Sui, Suli; Sleeboom-Faulkner, Margaret


    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…

  20. Commercial Genetic Testing and Its Governance in Chinese Society (United States)

    Sui, Suli; Sleeboom-Faulkner, Margaret


    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…

  1. Genetic Testing and Psychology: New Roles, New Responsibilities (United States)

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


    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. Epidemiology and Genetic Epidemiology of the Liver Function Test Proteins (United States)

    Rahmioglu, Nilufer; Andrew, Toby; Cherkas, Lynn; Surdulescu, Gabriela; Swaminathan, Ramasamyiyer; Spector, Tim; Ahmadi, Kourosh R.


    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

  3. Reproducibility of AMPLICOR enterovirus PCR test results.



    The reproducibility of AMPLICOR enterovirus PCR test results was determined with clinical samples of cerebrospinal fluid, serum, urine, and throat and rectal swabs. Among 608 samples from which duplicate aliquots were run simultaneously, only seven pairs gave discordant results. Among 104 samples from which duplicate aliquots were run in separate assays, no discordance was seen. Overall, the reproducibility of test kit results was 99% (705 of 712).

  4. Production LHC HTS power lead test results

    CERN Document Server

    Tartaglia, M; Fehér, S; Huang, Y; Orris, D F; Pischalnikov, Y; Rabehl, Roger Jon; Sylvester, C D; Zbasnik, J


    The Fermilab Magnet test facility has built and operated a test stand to characterize the performance of HTS power leads. We report here the results of production tests of 20 pairs of 7.5 kA HTS power leads manufactured by industry for installation in feed boxes for the LHC Interaction Region quadrupole strings. Included are discussions of the thermal, electrical, and quench characteristics under "standard" and "extreme" operating conditions, and the stability of performance across thermal cycles.

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

    DEFF Research Database (Denmark)

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


    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...

  6. Using Test Results to Improve Instruction. (United States)

    Bassler, Otto C.; Caulkins, Thomas G.

    A model for summarizing test scores and using them to modify instructional programs is presented. The proposed model consists of two types of summaries of the data gathered through standardized tests. The first summary contains individual and single class results. Information in a "Class Item Response Record" chart provides individual student…

  7. A Knowledge Base for Teaching Biology Situated in the Context of Genetic Testing (United States)

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


    Recent developments in the field of genomics will impact the daily practice of biology teachers who teach genetics in secondary education. This study reports on the first results of a research project aimed at enhancing biology teacher knowledge for teaching genetics in the context of genetic testing. The increasing body of scientific knowledge…

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

    DEFF Research Database (Denmark)

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


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

  9. A Knowledge Base for Teaching Biology Situated in the Context of Genetic Testing (United States)

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


    Recent developments in the field of genomics will impact the daily practice of biology teachers who teach genetics in secondary education. This study reports on the first results of a research project aimed at enhancing biology teacher knowledge for teaching genetics in the context of genetic testing. The increasing body of scientific knowledge concerning genetic testing and the related consequences for decision-making indicate the societal relevance of such a situated learning approach. What content knowledge do biology teachers need for teaching genetics in the personal health context of genetic testing? This study describes the required content knowledge by exploring the educational practice and clinical genetic practices. Nine experienced teachers and 12 respondents representing the clinical genetic practices (clients, medical professionals, and medical ethicists) were interviewed about the biological concepts and ethical, legal, and social aspects (ELSA) of testing they considered relevant to empowering students as future health care clients. The ELSA suggested by the respondents were complemented by suggestions found in the literature on genetic counselling. The findings revealed that the required teacher knowledge consists of multiple layers that are embedded in specific genetic test situations: on the one hand, the knowledge of concepts represented by the curricular framework and some additional concepts (e.g. multifactorial and polygenic disorder) and, on the other hand, more knowledge of ELSA and generic characteristics of genetic test practice (uncertainty, complexity, probability, and morality). Suggestions regarding how to translate these characteristics, concepts, and ELSA into context-based genetics education are discussed.

  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


    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. Results of the HESSI Test Mishap Investigation (United States)

    Worth, Daniel B.; Phillips, Rodney N.; Kross, Dennis A. (Technical Monitor)


    On March 21, 2000, the High-Energy Solar Spectroscopic Imager (HESSI) spacecraft was subjected to a series of vibration tests at the Jet Propulsion Laboratory (JPL) as a part of its flight certification program. The structural qualification test, denoted as the sineburst test, subjected the spacecraft to a major overtest that resulted in significant structural damage to the spacecraft. The HESSI Test Mishap Investigation Board (MIB) was formed on March 24, 2000, in response to a NASA headquarters request. Board membership included experts from NASA and the University of California at Berkeley. This paper will present the investigation methods, findings, and lessons learned from the HESSI mishap.

  12. Mucopolysaccharidosis VI in cats - clarification regarding genetic testing. (United States)

    Lyons, Leslie A; Grahn, Robert A; Genova, Francesca; Beccaglia, Michela; Hopwood, John J; Longeri, Maria


    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

  13. Genetic Testing for Hereditary Cancer Syndromes (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 ...

  14. Dynamic Tensile Test Results for Several Metals (United States)


    8217• AFWAL-TR-82-4026 SDYNAMIC TENSILE TEST RESULTS FOR SEVERAL METALS SUNIVERSITY OF DAYTON RESEA CH INSTITUTE ’ 300 COLLEGE PARK DR. DAYTON, OHIO... Tensile Test Results for March - September 1981 Several Metals 6. PERFORMING oDG. REPORT NUMBER UDR-TR-82-05 7. AUTHOR(s) S. CONTRACT OfR GRANT NUMBER(&) S...tensile stresses above 10 s The split Hopkinson bar tensile test (see next section) can extend this range another decade. Resolution of rapidly

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

    DEFF Research Database (Denmark)

    Zhai, Weiwei; Nielsen, Rasmus; Slatkin, Montgomery


    In this report, we investigate the statistical power of several tests of selective neutrality based on patterns of genetic diversity within and between species. The goal is to compare tests based solely on population genetic data with tests using comparative data or a combination of comparative...... selection. The Hudson-Kreitman-Aguadé test is the most powerful test for detecting positive selection among the population genetic tests investigated, whereas McDonald-Kreitman test typically has more power to detect negative selection. We discuss our findings in the light of the discordant results obtained...

  16. Adaptive structures - Test hardware and experimental results (United States)

    Wada, Ben K.; Fanson, James L.; Chen, Gun-Shing; Kuo, Chin-Po


    The facilities and procedures used at JPL to test adaptive structures such as the large deployable reflector (LDR) are described and preliminary results are reported. The applications of adaptive structures in future NASA missions are outlined, and the techniques which are employed to modify damping, stiffness, and isolation characteristics, as well as geometric changes, are listed. The development of adaptive structures is shown to be effective as a result of new actuators and sensors, and examples are listed for categories such as fiber optics, shape-memory materials, piezoelectrics, and electrorheological fluids. Some ground test results are described for laboratory truss structures and truss test beds, which are shown to be efficient and easy to assemble in space. Adaptive structures are shown to be important for precision space structures such as the LDR, and can alleviate ground test requirements.

  17. Genetic Test of New Cottonwood Clones at Nursery Stage

    Institute of Scientific and Technical Information of China (English)

    QINGuanghua; JIANGYuezhong


    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.

  18. Genetic heterogeneity in HER2 testing may influence therapy eligibility. (United States)

    Bernasconi, Barbara; Chiaravalli, Anna Maria; Finzi, Giovanna; Milani, Katia; Tibiletti, Maria Grazia


    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.

  19. Cryogenic Test Results of Hextek Mirror (United States)

    Hadaway, James; Stahl, H. Philip; Eng, Ron; Hogue, William


    A 250 mm diameter lightweight borosilicate mirror has been interferometrically tested from room-temperature down to 30 K at the X-Ray Calibration Facility (XRCF) at Marshall Space Flight Center (MSFC). The minor blank was manufactured by Hextek Corporation using a high-temperature gas fusion process and was then polished at MSFC. It is a sandwich-type mirror consisting of a thin face-sheet (approx.1.5 mm thick), a core structure (20 mm thick, approx.43 mm diameter cells, & 0.5-1.2 mm thick walls), and a thin back-sheet (3 mm thick). The mirror has a 2500 mm spherical radius-of- curvature @/lo). The areal density is 14 kg/sq m. The mirror was tested in the 1 m x 2 m chamber using an Instantaneous Phase Interferometer (PI) from ADE Phase Shift Technologies. The mirror was tested twice. The first test measured the change in surface figure from ambient to 30 K and the repeatability of the change. An attempt was then made by QED Technologies to cryo-figure the mirror using magnetorheological finishing. The second test measured the effectiveness of the cryo- figuring. This paper will describe the test goals, the test instrumentation, and the test results for these cryogenic tests.

  20. 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.


    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,

  1. 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.


    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,

  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.


    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.


    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. How Can Consumers Be Sure a Genetic Test Is Valid and Useful? (United States)

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

  5. Men's values-based factors on prostate cancer risk genetic testing: A telephone survey

    Directory of Open Access Journals (Sweden)

    Li Yuelin


    Full Text Available Abstract Background While a definitive genetic test for Hereditary Prostate Cancer (HPC is not yet available, future HPC risk testing may become available. Past survey data have shown high interest in HPC testing, but without an in-depth analysis of its underlying rationale to those considering it. Methods Telephone computer-assisted interviews of 400 men were conducted in a large metropolitan East-coast city, with subsequent development of psychometric scales and their correlation with intention to receive testing. Results Approximately 82% of men interviewed expressed that they "probably" or "definitely" would get genetic testing for prostate cancer risk if offered now. Factor analysis revealed four distinct, meaningful factors for intention to receive genetic testing for prostate cancer risk. These factors reflected attitudes toward testing and were labeled "motivation to get testing," "consequences and actions after knowing the test result," "psychological distress," and "beliefs of favorable outcomes if tested" (α = 0.89, 0.73, 0.73, and 0.60, respectively. These factors accounted for 70% of the total variability. The domains of motivation (directly, consequences (inversely, distress (inversely, and positive expectations (directly all correlated with intention to receive genetic testing (p Conclusions Men have strong attitudes favoring genetic testing for prostate cancer risk. The factors most associated with testing intention include those noted in past cancer genetics studies, and also highlights the relevance in considering one's motivation and perception of positive outcomes in genetic decision-making.

  6. Genetic Testing for Huntington's Disease in Parkinsonism. (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


    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.

  7. Genetic Testing for Autism Spectrum Disorders (United States)

    Bauer, Sarah C.; Msall, Michael E.


    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…

  8. Results of shielding characteristics tests in Monju

    Energy Technology Data Exchange (ETDEWEB)

    Usami, Shin; Suzuoki, Zenro; Deshimaru, Takehide; Nakashima, Fumiaki [Japan Nuclear Cycle Development Inst., Tsuruga, Fukui (Japan)


    In the prototype fast breeder reactor Monju, the shielding characteristics tests were made around the reactor core, the primary heat transport system, and the fuel handling and storage system as a part of the system start-up tests from 0% to 45% of rated power from October 1993 through December 1995. The results of the measurements, analyses and evaluations in these tests validated the FBR shielding analysis methods and demonstrated that there was a safe shielding design margin in Monju. The important basic data for use in future FBR shielding design were successfully acquired. In order to obtain more substantial basic data and to improve the accuracy of the analyses, the next shielding measurements are planned for the period of the system start-up tests at the restart of Monju. (author)

  9. Redox accountability test program: Initial results

    Energy Technology Data Exchange (ETDEWEB)

    Schneider, R.A.; Bray, L.A.


    This report details initial results of a large scale accountability test program which was recently carried out in the Redox Facility. The test, as originally planned which was to consist of the complete processing (no inventory-clean plant basis) of about 55 tons of selected metal in conjunction with an extensive analytical, sampling, and volume measurement program. With the exception of two incidents, the processing requirements (minimum inventory and measurement of all material) necessary to the success of the test, were met. The two incidents which increase the uncertainties associated with some of the material balance values obtained were: the discharge of an estimated 700 pounds of uranium to the floor in a transfer from F-5 to F-4 due tot he improper installation of the F-5 to F-4 transfer line (jumper) and the discovery of a large accumulation of plutonium ({approximately} 15 kg) in the L-2 stripping tower after completion of the test run.

  10. The Results of the Second NACEF Test

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jong-Hwan; Bae, Yoon-Yeong; Kim, Chan-Soo; Hong, Sung-Deok; Kim, Eung-Seon [Korea Atomic Energy Research Institute, Daejeon (Korea, Republic of)


    RCCS (Reactor Cavity Cooling System) is the only ex-vessel passive safety system that will ensure the safety of the PMR200, and its performance needs to be verified. For the difficulty of the fullscale test, a 1/4-scale RCCS facility, NACEF, was constructed at KAERI and a few tests have satisfactorily been performed. Here described are the results of the second main test which aimed at the evaluation of heat transfer with the scaled air velocity in the risers and the scaled air temperature increment during passing through the risers. The second main test was performed in the NACEF facility, the 1/4-scale RCCS mockup of PMR200. Natural convection cooling by buoyant force formed in the risers for a scaled condition. The RCCS in the prototypic PMR200 is expected to perform well. The heat transfer regime is in between the mixed convection and the forced convection.

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

    Directory of Open Access Journals (Sweden)

    Binder Gerhard


    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.

  12. Genetic testing in the epilepsies—Report of the ILAE Genetics Commission (United States)

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


    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

  13. J series thruster thermal test results (United States)

    Bechtel, R. T.; Dulgeroff, C. R.


    Test experience with J series ion thrusters have indicated that the present thruster design may result in excessive temperatures in areas which utilize organic materials such as wire insulation, with the resultant outgassing and potential contamination of insulating materials. Further, it appears that thermal data obtained with earlier thruster designs, such as the 700 series thruster, may not be directly applicable to the J series design. Two J series thrusters were fitted with thermocouples and critical temperatures measured for a variety of configurations and operating parameters. Completely enclosing the thruster to reduce facility contamination significantly increased temperatures prompting the selection of a compromise geometry for life testing. The operating parameter having the largest effect on temperatures was discharge power, while beam power affected little else than extraction system temperatures. Several off-normal operating modes were also investigated. Data believed to be sufficient to effectively modify existing thermal models were obtained from the tests.

  14. Cone Penetrometer N Factor Determination Testing Results

    Energy Technology Data Exchange (ETDEWEB)

    Follett, Jordan R.


    This document contains the results of testing activities to determine the empirical 'N Factor' for the cone penetrometer in kaolin clay simulant. The N Factor is used to releate resistance measurements taken with the cone penetrometer to shear strength.

  15. Conventional Anchor Test Results at Guam. (United States)


    TITLE (- s..suft.j S. TYPE OF REPORT 6 PERIOD COVERED GI NVENTIONAL INCHOR TEST RESULTS Not final; Jan 1980 - Jun 1980 AT- 6.GU- PERFORMING ORO. REPORT...Z.P. Bazant Evanston IL OREGON STATE UNIVERSITY (CE Dept Grace) Corvallis, OR: CORVALLIS, OR (CE DEPT. BELL): Corvalis OR (School of Oceanography

  16. Genetic counseling and testing for Huntington's disease: A historical review. (United States)

    Nance, Martha A


    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.

  17. Qualification test results for the TIRS cryocooler (United States)

    Marquardt, Eric; Gully, Wilfred; Marquardt, Jennifer; Boyle, Robert; Hale, Taylor


    Ball Aerospace has completed qualification testing of its flight Stirling-cycle mechanical cryocooler for the Thermal Infrared Sensor (TIRS), an instrument slated to fly on the Landsat Data Continuity Mission (LDCM) platform. The TIRS cooler, developed under subcontract to NASA Goddard Space Flight Center, consists of a sophisticated and highly reliable, two-stage, fixed regenerator Stirling cryocooler and its drive electronics. The TIRS cooler provides 2 W of 38 K cooling to the TIRS detectors and 9.8 W shield cooling to 85 K for less than 225 W total input power. Performance test results are reported.

  18. Genetic testing and counselling in inherited eye disease

    DEFF Research Database (Denmark)

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


    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....

  19. Psychiatrists’ views of the genetic bases of mental disorders and behavioral traits and their utilization of genetic tests


    Abbate, Kristopher J.; Chung, Wendy; Marder, Karen; Ottman, Ruth; Taber, Katherine Johansen; Leu, Cheng-Shiun; Appelbaum, Paul S.


    We examined how 372 psychiatrists view genetic aspects of mental disorders and behaviors, and use genetic tests (GTs). Most thought the genetic contribution was moderate/high for several disorders (e.g. bipolar, schizophrenia, depression, Alzheimer’s, intelligence, creativity, anxiety, suicidality). In the past 6 months, 14.1% ordered GTs, 18.3% discussed prenatal testing with patients, 36.0% initiated discussions about other GTs, 41.6% had patients ask about GTs, and 5.3% excluded GT results...

  20. Disparities in Cancer Genetic Risk Assessment and Testing. (United States)

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


    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.

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

    Directory of Open Access Journals (Sweden)

    Pamela Tozzo


    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.

  2. DTC genetic testing: pendulum swings and policy paradoxes. (United States)

    Caulfield, T


    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.

  3. Medical Students Knowledge and Attitude Towards Direct-To-Consumer Genetic Tests

    Directory of Open Access Journals (Sweden)

    Luca Giraldi


    Full Text Available Aims: This study reports on the attitudes of 179 Italian Medical Students to direct-to-consumer genetic test and to participation in research practices. Methods: Data were collected using a self-completion online questionnaire sent to 380 medical students at the faculty of Medicine of the Università Cattolica del Sacro Cuore in Rome, Italy. Questions pertained issues related to awareness and attitudes towards genetic testing, reactions to hypothetical results, and views about contributing to scientific research. Results: The response rate was 47.1%. Less than 50% of students were aware of DTC genetic test. Seventy-four percent of the sample were interested in undergoing DTC genetic test, and the main reason was being aware on genetic predisposition to diseases. Among those who were not willing to undergo a genetic test, the main reason was the lack of confidence in the results. In the hypothetical situations of an increased disease risk after undergoing DTC genetic testing, respondents would take actions to reduce that risk, while in the opposite scenario they would feel unaffected because of the probabilistic nature of the test. Conclusions: We reported a good level of awareness about DTC genetic test and a high interest in undergoing DTC genetic test in our sample. Nevertheless, opinions and reactions are strongly dependent by the hypothetical good or bad result that the test could provide and by the context whereby a genetic test could be performed. Respondents seem to be exposed to the risk of psychological harms, and a strong regulation regarding their use is required.

  4. Laboratory results of the AOF system testing (United States)

    Kolb, Johann; Madec, Pierre-Yves; Arsenault, Robin; Oberti, Sylvain; Paufique, Jérôme; La Penna, Paolo; Ströbele, Stefan; Donaldson, Robert; Soenke, Christian; Suárez Valles, Marcos; Kiekebusch, Mario; Argomedo, Javier; Le Louarn, Miska; Vernet, Elise; Haguenauer, Pierre; Duhoux, Philippe; Aller-Carpentier, Emmanuel; Valenzuela, Jose Javier; Guerra, Juan Carlos


    For two years starting in February 2014, the AO modules GRAAL for HAWK-I and GALACSI for MUSE of the Adaptive Optics Facility project have undergone System Testing at ESO's Headquarters. They offer four different modes: NGS SCAO, LGS GLAO in the IR, LGS GLAO and LTAO in the visible. A detailed characterization of those modes was made possible by the existence of ASSIST, a test bench emulating an adaptive VLT including the Deformable Secondary Mirror, a star simulator and turbulence generator and a VLT focal plane re-imager. This phase aimed at validating all the possible components and loops of the AO modules before installation at the actual VLT that comprises the added complexity of real LGSs, a harsher non-reproducible environment and the adaptive telescope control. In this paper we present some of the major results obtained and challenges encountered during the phase of System Tests, like the preparation of the Acquisition sequence, the testing of the Jitter loop, the performance optimization in GLAO and the offload of low-order modes from the DSM to the telescope (restricted to the M2 hexapod). The System Tests concluded with the successful acceptance, shipping, installation and first commissioning of GRAAL in 2015 as well as the acceptance and shipping of GALACSI, ready for installation and commissioning early 2017.

  5. Field Cone Penetration Tests with Various Penetration Rates - Test Results

    DEFF Research Database (Denmark)

    Poulsen, Rikke; Nielsen, Benjaminn Nordahl; Ibsen, Lars Bo

    The test site is located at Nordre Ringgade near the town called Dronninglund in the northern Jutland in Denmark. The site area is relatively flat, and was chosen because it has a size of approximately 3 ha and contains a relatively thick deposit of silty soils. Furthermore the groundwater...... was encountered at approximately 0.2-0.6 m below the ground level. The soil stratigraphy of the test site was before test start identified by geotechnical borings results. The geotechnical borings indicated that the site contains of sandy silt with clay stripes from approx. 4.0 to 10 m. In the top the silty soil...... is very sandy with few clay stripes, and gradually the clay stripes increases wherefore the soil from approx. 10 m contains of clay with sandy silt stripes. Large soil sample was also collected from the test site in order to determine basic soil properties in the laboratory....

  6. Statistical analysis of concrete quality testing results

    Directory of Open Access Journals (Sweden)

    Jevtić Dragica


    Full Text Available This paper statistically investigates the testing results of compressive strength and density of control concrete specimens tested in the Laboratory for materials, Faculty of Civil Engineering, University of Belgrade, during 2012. The total number of 4420 concrete specimens were tested, which were sampled on different locations - either on concrete production site (concrete plant, or concrete placement location (construction site. To be exact, these samples were made of concrete which was produced on 15 concrete plants, i.e. placed in at 50 different reinforced concrete structures, built during 2012 by 22 different contractors. It is a known fact that the achieved values of concrete compressive strength are very important, both for quality and durability assessment of concrete inside the structural elements, as well as for calculation of their load-bearing capacity limit. Together with the compressive strength testing results, the data concerning requested (designed concrete class, matching between the designed and the achieved concrete quality, concrete density values and frequency of execution of concrete works during 2012 were analyzed.

  7. Genetic Testing for Huntington's Disease: How Is the Decision Taken? (United States)

    Etchegary, Holly


    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.

  8. 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...

  9. Raising Awareness of Pre-Symptomatic Genetic Testing (United States)

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


    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…

  10. Nonprofit Groups Offer Genetic Testing for Jewish Students (United States)

    Supiano, Beckie


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

    Institute of Scientific and Technical Information of China (English)



    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.

  12. Psychological impact of genetic testing for cancer susceptibility: an update of the literature. (United States)

    Meiser, Bettina


    This article presents an overview of the rapidly evolving body of literature on the psychological impact of genetic testing for hereditary breast/ovarian cancer susceptibility, hereditary non-polyposis colorectal cancer (HNPCC) and familial adenomatous polyposis (FAP). Uptake of genetic testing for BRCA1/2 and HNPCC-related mutations is more consistently related to psychological factors, rather than sociodemographic variables. Most studies on the psychological impact of genetic testing amongst individuals who have never been affected by cancer demonstrate that non-carriers derive significant psychological benefits from genetic testing, while no adverse effects have been observed amongst carriers. These benefits are more clear-cut for HNPCC, compared to hereditary breast/ovarian cancer, reflecting differences in risk management options. The few studies available on individuals affected with cancer indicate that the impact of genetic testing is mediated and amplified by their former experience of cancer. Future directions and challenges of research in this area are reviewed. In particular, more empirical data are needed on the broader impact of genetic testing on those with inconclusive results or results of uncertain significance. As genetic testing is becoming available for other types of familial cancer, additional investigations will be needed as there is evidence to suggest that the impact of genetic testing may be unique to each type of familial cancer.

  13. Improved genetic testing: a new impetus toward universal coverage. (United States)

    Sureka, A


    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.

  14. Genetic Testing in the Multidisciplinary Management of Melanoma. (United States)

    Rashid, Omar M; Zager, Jonathan S


    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.

  15. 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


    ...: 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...

  16. Genetic testing for cystic fibrosis in adult patients

    Directory of Open Access Journals (Sweden)

    Marina Mencinger


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

  17. Large, Prospective Analysis of the Reasons Patients Do Not Pursue BRCA Genetic Testing Following Genetic Counseling. (United States)

    Hayden, Sommer; Mange, Sarah; Duquette, Debra; Petrucelli, Nancie; Raymond, Victoria M


    Genetic counseling (GC) and genetic testing (GT) identifies high-risk individuals who benefit from enhanced medical management. Not all individuals undergo GT following GC and understanding the reasons why can impact clinical efficiency, reduce GT costs through appropriate identification of high-risk individuals, and demonstrate the value of pre-GT GC. A collaborative project sponsored by the Michigan Department of Health and Human Services prospectively collects anonymous data on BRCA-related GC visits performed by providers in Michigan, including demographics, patient/family cancer history, GT results, and reasons for declining GT. From 2008 to 2012, 10,726 patients underwent GC; 3476 (32.4%) did not pursue GT. Primary reasons included: not the best test candidate (28.1%), not clinically indicated (23.3%), and insurance/out of pocket cost concerns (13.6%). Patient disinterest was the primary reason for declining in 17.1%. Insurance/out of pocket cost concerns were the primary reason for not testing in 13.4% of untested individuals with private insurance. Among untested individuals with breast and/or ovarian cancer, 22.5% reported insurance/out of pocket cost concerns as the primary reason for not testing and 6.6% failed to meet Medicare criteria. In a five-year time period, nearly one-third of patients who underwent BRCA GC did not pursue GT. GT was not indicated in almost half of patients. Insurance/out of pocket cost concerns continue to be barriers.

  18. Health and genetic ancestry testing: time to bridge the gap. (United States)

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


    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.

  19. Genetic Testing for Rare Cancer: The Wider Issues. (United States)

    Jacobs, Chris; Pichert, Gabriella


    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.


    Energy Technology Data Exchange (ETDEWEB)

    Steimke, J; Timothy Steeper, T


    This document reports the results of Phase I Single Cell testing of an SO{sub 2}-Depolarized Water Electrolyzer. Testing was performed primarily during the first quarter of FY 2008 at the Savannah River National Laboratory (SRNL) using an electrolyzer cell designed and built at SRNL. Other facility hardware were also designed and built at SRNL. This test further advances this technology for which work began at SRNL in 2005. This research is valuable in achieving the ultimate goal of an economical hydrogen production process based on the Hybrid Sulfur (HyS) Cycle. The focus of this work was to conduct single cell electrolyzer tests to further develop the technology of SO{sub 2}-depolarized electrolysis as part of the HyS Cycle. The HyS Cycle is a hybrid thermochemical cycle that may be used in conjunction with advanced nuclear reactors or centralized solar receivers to produce hydrogen by water-splitting. Like all other sulfur-based cycles, HyS utilizes the high temperature thermal decomposition of sulfuric acid to produce oxygen and regenerate sulfur dioxide. The unique aspect of HyS is the generation of hydrogen in a water electrolyzer that is operated under conditions where dissolved sulfur dioxide depolarizes the anodic reaction, resulting in substantial voltage reduction. Low cell voltage is essential for both thermodynamic efficiency and hydrogen cost. Sulfur dioxide is oxidized at the anode, producing sulfuric acid that is sent to the high temperature acid decomposition portion of the cycle. The electrolyzer cell uses the membrane electrode assembly (MEA) concept. The anode and cathode are formed by spraying platinum containing catalyst on both sides of a Proton Exchange Membrane (PEM). In most testing the material of the PEM was NafionR. The electrolyzer cell active area can be as large as 54.8 cm{sup 2}. Feed to the anode of the electrolyzer is a sulfuric acid solution containing sulfur dioxide. The partial pressure of sulfur dioxide could be varied in the

  1. Advanced Thermal Simulator Testing: Thermal Analysis and Test Results (United States)

    Bragg-Sitton, Shannon M.; Dickens, Ricky; Dixon, David; Reid, Robert; Adams, Mike; Davis, Joe


    Work at the NASA Marshall Space Flight Center seeks to develop high fidelity, electrically heated thermal simulators that represent fuel elements in a nuclear reactor design to support non-nuclear testing applicable to the development of a space nuclear power or propulsion system. Comparison between the fuel pins and thermal simulators is made at the outer fuel clad surface, which corresponds to the outer sheath surface in the thermal simulator. The thermal simulators that are currently being tested correspond to a SNAP derivative reactor design that could be applied for Lunar surface power. These simulators are designed to meet the geometric and power requirements of a proposed surface power reactor design, accommodate testing of various axial power profiles, and incorporate imbedded instrumentation. This paper reports the results of thermal simulator analysis and testing in a bare element configuration, which does not incorporate active heat removal, and testing in a water-cooled calorimeter designed to mimic the heat removal that would be experienced in a reactor core.

  2. Public attitudes towards genetic testing revisited: comparing opinions between 2002 and 2010 (United States)

    Henneman, Lidewij; Vermeulen, Eric; van El, Carla G; Claassen, Liesbeth; Timmermans, Danielle R M; Cornel, Martina C


    Ten years after the Human Genome Project, medicine is still waiting for many of the promised benefits, and experts have tempered their high expectations. Public opinion on genetic testing has generally been favourable but is this still the case? The aim of this study is to compare public experiences, beliefs and expectations concerning genetic testing over the years (2002 vs 2010). A cross-sectional questionnaire survey was conducted using the Dutch Health Care Consumer Panel in 2002 and 2010. Responses to questions in identical wording were compared. In 2002 and 2010, 817 (63%) and 978 (70%) members responded, respectively. Awareness and reported use of genetic tests remained stable over time. In 2010, more respondents expected genetic testing to become more widely applied, believed that knowledge about the genetic background of disease helps people live longer, and that testing should be promoted more intensively. In 2010, they were also more interested in their own genetic make-up. On the one hand, the concern that a dichotomy would emerge between people with ‘good genes' and ‘bad genes' was higher. On the other hand, respondents thought that insurance companies would be less likely to demand a genetic test in order to calculate health insurance premiums. In conclusion, the results suggest that in 8 years, expectations of benefits and potential use of genetic testing have been raised among the public, resulting in more positive opinions. Worries on inequity remain, although worries about premium differentiation by insurance companies have decreased. PMID:23249955

  3. Evaluating the psychological effects of genetic testing in symptomatic patients: a systematic review. (United States)

    Vansenne, Fleur; Bossuyt, Patrick M M; de Borgie, Corianne A J M


    Most research on the effects of genetic testing is performed in individuals at increased risk for a specific disease (presymptomatic subjects) but not in patients already affected by disease. If results of these studies in presymptomatic subjects can be applied to patients is unclear. We performed a systematic review to evaluate the effects of genetic testing in patients and describe the methodological instruments used. About 2611 articles were retrieved and 16 studies included. Studies reported great variety in designs, methods, and patient outcomes. In total, 2868 participants enrolled of which 62% were patients. Patients appeared to have a lower perceived general health and higher levels of anxiety and depression than presymptomatic subjects before genetic testing. In the long term no psychological impairment was shown. We conclude that patients differ from presymptomatic subjects and may be more vulnerable to negative effects of genetic testing. Conclusions from earlier research on presymptomatic genetic testing cannot be generalized to patients, and more standardized research is needed.

  4. Genetic testing legislation in Western Europe-a fluctuating regulatory target. (United States)

    Soini, Sirpa


    Rapid developments of biomedical science have initiated different fora to take stand on the protection of human rights and human dignity. In front of the new genomic era with the completion of the Human Genome Project in 2003, a plethora of instruments addressing human genetic testing emerged, some looking suspiciously like legal acts. The notion of genetic exceptionalism was characteristic to the normative reactions in the legal acts, but it can be questioned how justified this is. Despite the critique on genetic exceptionalism, it is argued that in certain situations detection of a serious genetic anomaly may cause extra anxiety in a person tested, if the knowledge has a great significance also to family members. Regulative needs should depend on the context and purpose of the test. This review examines the legal framework governing the use of genetic tests in the clinical setting in Western Europe. Five countries have enacted genetic specific laws, and three have comprehensive provisions pertaining genetic testing in their biomedical legislation. Central provisions cover informed consent, autonomy and integrity of the person tested, further uses of tests results, quality requirements of the personnel and facilities involved. Moreover, contemporary challenges related to whole genome sequencing, direct-to-consumer genetic tests and insurance are briefly discussed.

  5. Preimplantation genetic diagnosis for Huntington's disease with exclusion testing. (United States)

    Sermon, Karen; De Rijcke, Martine; Lissens, Willy; De Vos, Anick; Platteau, Peter; Bonduelle, Maryse; Devroey, Paul; Van Steirteghem, André; Liebaers, Inge


    Huntington's disease is an autosomal dominant, late-onset disorder, for which the gene and the causative mutation have been known since 1993. Some at-risk patients choose for presymptomatic testing and can make reproductive choices accordingly. Others however, prefer not to know their carrier status, but may still wish to prevent the birth of a carrier child. For these patients, exclusion testing after prenatal sampling has been an option for many years. A disadvantage of this test is that unaffected pregnancies may be terminated if the parent at risk (50%) has not inherited the grandparental Huntington gene, leading to serious moral and ethical objections. As an alternative, preimplantation genetic diagnosis (PGD) on embryos obtained in vitro may be proposed, after which only embryos free of risk are replaced. Embryos can then be selected, either by the amplification of the CAG repeat in the embryos without communicating results to the patients (ie non-disclosure testing), which brings its own practical and moral problems, or exclusion testing. We describe here the first PGD cycles for exclusion testing for Huntington's disease in five couples. Three couples have had at least one PGD cycle so far. One pregnancy ensued and a healthy female baby was delivered.

  6. 'Battling my biology': psychological effects of genetic testing for risk of weight gain. (United States)

    Meisel, S F; Wardle, J


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

  7. Factors influencing uptake of familial long QT syndrome genetic testing. (United States)

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


    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.

  8. Preliminary test results for the SVX4

    Energy Technology Data Exchange (ETDEWEB)

    Christofek, L.; Hanagaki, K.; Rapidis, P.; Utes, M.; /Fermilab


    We present and summarize the preliminary test results for SVX4 chip testing. There are presently two versions of the SVX4. Version 2 has on-chip bypassing and Version 1 does not. The on-chip bypassing is a layer of transistors under the front-end analog pipeline that acts as a bypassing capacitor for the voltage supply. Its size is about a microfarad. We aggressively choose to test Version 2 because of this feature. The feature is advantageous for hybrid design because it eliminates the need for an additional passive component on the hybrid itself by placing it on the actual SVX4 die. Also, the SVX4 was designed to operate in two modes: D. and CDF. One can set which mode the chip will operate by placing a jumper in the proper position on the SVX4 chip carrier. In either mode, the chip can either use the operating parameters from the shift register or the shadow register. Similarly, this is selected by placing a jumper on the SVX4 chip carrier. This chip has this feature because it was unknown whether the new design of the shadow register would be operable. The shadow register is also call the SEU register or Single Event Upset register. An introduction into the functionality of the chip and an explanation on the difference between D. and CDF mode can be found in the SVX4 User's Manual [1].

  9. Arc melter demonstration baseline test results

    Energy Technology Data Exchange (ETDEWEB)

    Soelberg, N.R.; Chambers, A.G.; Anderson, G.L.; Oden, L.L.; O`Connor, W.K.; Turner, P.C.


    This report describes the test results and evaluation for the Phase 1 (baseline) arc melter vitrification test series conducted for the Buried Waste Integrated Demonstration program (BWID). Phase 1 tests were conducted on surrogate mixtures of as-incinerated wastes and soil. Some buried wastes, soils, and stored wastes at the INEL and other DOE sites, are contaminated with transuranic (TRU) radionuclides and hazardous organics and metals. The high temperature environment in an electric arc furnace may be used to process these wastes to produce materials suitable for final disposal. An electric arc furnace system can treat heterogeneous wastes and contaminated soils by (a) dissolving and retaining TRU elements and selected toxic metals as oxides in the slag phase, (b) destroying organic materials by dissociation, pyrolyzation, and combustion, and (c) capturing separated volatilized metals in the offgas system for further treatment. Structural metals in the waste may be melted and tapped separately for recycle or disposal, or these metals may be oxidized and dissolved into the slag. The molten slag, after cooling, will provide a glass/ceramic final waste form that is homogeneous, highly nonleachable, and extremely durable. These features make this waste form suitable for immobilization of TRU radionuclides and toxic metals for geologic timeframes. Further, the volume of contaminated wastes and soils will be substantially reduced in the process.

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

    LENUS (Irish Health Repository)

    Murphy, Sinead M


    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.

  11. Evaluating online direct-to-consumer marketing of genetic tests: informed choices or buyers beware? (United States)

    Geransar, Rose; Einsiedel, Edna


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

  12. Impact of literacy and numeracy on motivation for behavior change after diabetes genetic risk testing. (United States)

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


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

  13. Updated Results of Ultrasonic Transducer Irradiation Test

    Energy Technology Data Exchange (ETDEWEB)

    Daw, Joshua; Palmer, Joe [Idaho National Laboratory, P.O. Box 1625, MS 4112, Idaho Falls, ID, 38415-3840 (United States); Ramuhalli, Pradeep; Keller, Paul; Montgomery, Robert [Pacific Northwest National Laboratory, 902 Battelle Blvd. Richland, WA, 99354 (United States); Chien, Hual-Te [Argonne National Laboratory, 9700 S. Cass Avenue Argonne, IL, 60439 (United States); Tittmann, Bernhard; Reinhardt, Brian [Pennsylvania State University, 212 Earth and Engr. Sciences Building, University Park, PA, 16802 (United States); Kohse, Gordon [Massachusetts Institute of Technology, 77 Massachusetts Ave. Cambridge, MA 02139 (United States); Rempe, Joy [Rempe and Associates, LLC, 360 Stillwater, Idaho Falls, ID 83404 (United States); Villard, J.F. [Commissariat a l' energie atomique et aux energies alternatives, Centre d' etudes de Cadarache, 13108 Saint-Paul-lez-Durance (France)


    Ultrasonic technologies offer the potential for high accuracy and resolution in-pile measurement of a range of parameters, including geometry changes, temperature, crack initiation and growth, gas pressure and composition, and microstructural changes. Many Department of Energy-Office of Nuclear Energy (DOE-NE) programs are exploring the use of ultrasonic technologies to provide enhanced sensors for in-pile instrumentation during irradiation testing. For example, the ability of small diameter ultrasonic thermometers (UTs) to provide a temperature profile in candidate metallic and oxide fuel would provide much needed data for validating new fuel performance models. These efforts are limited by the lack of identified ultrasonic transducer materials capable of long term performance under irradiation test conditions. To address this need, the Pennsylvania State University (PSU) was awarded an Advanced Test Reactor National Scientific User Facility (ATR NSUF) project to evaluate the performance of promising magnetostrictive and piezoelectric transducers in the Massachusetts Institute of Technology Research Reactor (MITR) up to a fast fluence of at least 10{sup 21} n/cm{sup 2}. A multi-National Laboratory collaboration funded by the Nuclear Energy Enabling Technologies Advanced Sensors and Instrumentation (NEET-ASI) program also provided initial support for this effort. This irradiation, which started in February 2014, is an instrumented lead test and real-time transducer performance data are collected along with temperature and neutron and gamma flux data. The irradiation is ongoing and will continue to approximately mid-2015. To date, very encouraging results have been attained as several transducers continue to operate under irradiation. (authors)

  14. Automated test data generation for branch testing using incremental genetic algorithm

    Indian Academy of Sciences (India)



    Cost of software testing can be reduced by automated test data generation to find a minimal set of data that has maximum coverage. Search-based software testing (SBST) is one of the techniques recently used for automated testing task. SBST makes use of control flow graph (CFG) and meta-heuristic search algorithms to accomplish the process. This paper focuses on test data generation for branch coverage. A major drawback in using meta-heuristic techniques is that the CFG paths have to be traversed from the starting node to end node for each automated test data. This kind of traversal could be improved by branch ordering, together with elitism. But still the population size and the number of iterations are maintained as the same to keep all the branches alive. In this paper, we present an incremental genetic algorithm (IGA) for branch coverage testing. Initially, a classical genetic algorithm (GA) is used to construct the population with the best parents for each branch node, and the IGA is started with these parents as the initial population. Hence, it is not necessary to maintain a huge population size and large number of iterations to cover all the branches. The performance is analyzed with five benchmark programs studied from the literature. The experimental results indicate that the proposed IGA search technique outperforms the other meta-heuristic search techniques in terms of memory usage and scalability.

  15. Reporting genetic results in research studies: summary and recommendations of an NHLBI working group. (United States)

    Bookman, Ebony B; Langehorne, Aleisha A; Eckfeldt, John H; Glass, Kathleen C; Jarvik, Gail P; Klag, Michael; Koski, Greg; Motulsky, Arno; Wilfond, Benjamin; Manolio, Teri A; Fabsitz, Richard R; Luepker, Russell V


    Prospective epidemiologic studies aid in identifying genetic variants associated with diseases, health risks, and physiologic traits. These genetic variants may eventually be measured clinically for purposes of diagnosis, prognosis, and treatment. As evidence of the potential clinical value of such information accrues, research studies face growing pressure to report these results to study participants or their physicians, even before sufficient evidence is available to support widespread screening of asymptomatic persons. There is thus a need to begin to develop consensus on whether and when genetic findings should be reported to participants in research studies. The National Heart, Lung, and Blood Institute (NHLBI) convened a Working Group on Reporting Genetic Results in Research Studies to discuss if, when, and how genetic information should be reported to study participants. The Working Group concluded that genetic test results should be reported to study participants when the associated risk for the disease is significant; the disease has important health implications such as premature death or substantial morbidity or has significant reproductive implications; and proven therapeutic or preventive interventions are available. Finally, the Working Group recommended procedures for reporting genetic research results and encouraged increased efforts to create uniform guidelines for this activity.

  16. 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


    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.

  17. 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'.

  18. A new era in clinical genetic testing for hypertrophic cardiomyopathy. (United States)

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


    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.

  19. Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients. (United States)

    George, Angela; Riddell, Daniel; Seal, Sheila; Talukdar, Sabrina; Mahamdallie, Shazia; Ruark, Elise; Cloke, Victoria; Slade, Ingrid; Kemp, Zoe; Gore, Martin; Strydom, Ann; Banerjee, Susana; Hanson, Helen; Rahman, Nazneen


    Advances in DNA sequencing have made genetic testing fast and affordable, but limitations of testing processes are impeding realisation of patient benefits. Ovarian cancer exemplifies the potential value of genetic testing and the shortcomings of current pathways to access testing. Approximately 15% of ovarian cancer patients have a germline BRCA1 or BRCA2 mutation which has substantial implications for their personal management and that of their relatives. Unfortunately, in most countries, routine implementation of BRCA testing for ovarian cancer patients has been inconsistent and largely unsuccessful. We developed a rapid, robust, mainstream genetic testing pathway in which testing is undertaken by the trained cancer team with cascade testing to relatives performed by the genetics team. 207 women with ovarian cancer were offered testing through the mainstream pathway. All accepted. 33 (16%) had a BRCA mutation. The result informed management of 79% (121/154) women with active disease. Patient and clinician feedback was very positive. The pathway offers a 4-fold reduction in time and 13-fold reduction in resource requirement compared to the conventional testing pathway. The mainstream genetic testing pathway we present is effective, efficient and patient-centred. It can deliver rapid, robust, large-scale, cost-effective genetic testing of BRCA1 and BRCA2 and may serve as an exemplar for other genes and other diseases.

  20. Attitudes of medical students towards human genome research and genetic counselling and testing

    Directory of Open Access Journals (Sweden)

    Schäfer, Mike Steffen


    Full Text Available Purpose: The study aimed to describe students' attitudes towards human genome research and towards genetic counselling and testing at cancer patients. The background of this investigation provided the increasing relevance ob human genetics research for clinical practice.Methods: A total of 167 medical students (54% female, aged 24 +/- 2 years from the second phase of their studies were surveyed in obligatory courses at the University of Leipzig, using a standardized questionnaire. Topics of the survey were attitudes towards human genome research and genetic counselling and testing at cancer patients as well as general values and socio-demographic data of the students.Results: The students consider human genome research as relevant and evaluate it positively, mainly based on expectations of medical uses. Genetic counselling and testing at cancer patients as an application of human genetics is also evaluated as important. The students attribute high relevance to clinical procedures for identification of genetic backgrounds for cancer (family history, information about genetic diagnostic. Nevertheless, deficits in their medical education are highlighted und reflected upon: the increased integration of human genetic content into medical curricula is demanded.Discussion: In accordance with the newly formulated „Approbationsordnung für Ärzte", the results suggest that current human genetic development should be more emphasized in medical education. This could be realized by an enlarged ratio of human genetic courses within curricula and by the transformation of these courses from facultative into obligatory.

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

    Directory of Open Access Journals (Sweden)

    Einsiedel Edna


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

  2. Unit cell sparger test program and analysis of test results

    Energy Technology Data Exchange (ETDEWEB)

    Park, Choon Kyung; Song, C. H.; Cho, S.; Yoon, Y. J


    This report presents the results of test data from CPT-3 test and the effect of important parameters on the IRWST load. The object of CPT-3 test is to determine the influence of air mass in the piping on the IRWST (In-containment Refueling Water Storage Tank) boundary during an operation of Safety Depressurization and Vent System (SDVS). The test was conducted from an initial system pressure of 15.2 MPa, a steam temperature of 343.3 .deg. C, and an air mass of 3.34 lb. Following valve actuation, the pressure within the discharge line underwent pressure transient due to high pressure steam from the pressurizer and the discharged high pressure air formed air bubbles, which expanded and compressed periodically in the simulated IRWST. Air bubble oscillation was terminated within 2 s into the test. The magnitude of the pressure wave during the air clearing period was inversely proportional to the distance and very abrupt pressure spikes were observed in case the distance from the sparger holes to the submerged structure was less than 0.9 m. After the isolation valves were closed, the water in the simulated IRWST was considered to rise up to the 2.4m from the water surface in the quench tank. The amount of air mass in the piping, water temperature in the simulated IRWST, air temperature in the piping had not significant effect on the pressure loading during an air clearing period. However, the opening time of the isolation valve, steam mass flow rate, and submergence of an sparger have been shown to have great effects on the pressure loading during an air clearing period. 2 % of sparger flow area seems to be sufficient for the vacuum breaker area to mitigate the water hammering caused by abrupt water level rising during valve closure.

  3. The psychological impact of predictive genetic testing for Huntington's disease: a systematic review of the literature. (United States)

    Crozier, S; Robertson, N; Dale, M


    Huntington's disease (HD) is a neurodegenerative genetic condition for which a predictive genetic test by mutation analysis has been available since 1993. However, whilst revealing the future presence of the disease, testing may have an adverse psychological impact given that the disease is progressive, incurable and ultimately fatal. This review seeks to systematically explore the psychological impact of genetic testing for individuals undergoing pre-symptomatic mutation analysis. Three databases (Medline, PsycInfo and Scopus) were interrogated for studies utilising standardised measures to assess psychological impact following predictive genetic testing for HD. From 100 papers initially identified, eight articles were eligible for inclusion. Psychological impact of predictive genetic testing was not found to be associated with test result. No detrimental effect of predictive genetic testing on non-carriers was found, although the process was not found to be psychologically neutral. Fluctuation in levels of distress was found over time for carriers and non-carriers alike. Methodological weaknesses of published literature were identified, notably the needs of individuals not requesting genetic testing, as well as inadequate support for individuals registering elevated distress and declining post-test follow-up. Further assessment of these vulnerable individuals is warranted to establish the extent and type of future psychological support.

  4. Results from the Cooler and Lead Tests

    Energy Technology Data Exchange (ETDEWEB)

    Green, Michael A


    The report presents the results of testing MICE spectrometer magnet current leads on a test apparatus that combines both the copper leads and the high temperature superconducting (HTS) leads with a single Cryomech PT415 cooler and liquid helium tank. The current is carried through the copper leads from 300 K to the top of the HTS leads. The current is then carried through the HTS leads to a feed-through from the vacuum space to the inside of a liquid helium tank. The experiment allows one to measure the performance of both cooler stages along with the performance of the leads. While the leads were powered we measured the voltage drops through the copper leads, through the HTS leads, through spliced to the feed-through, through the feed-through and through the low-temperature superconducting loop that connects one lead to the other. Measurements were made using the leads that were used in spectrometer magnet 1A and spectrometer magnet 2A. These are the same leads that were used for Superbend and Venus magnets at LBNL. The IL/A for these leads was 5.2 x 10{sup 6} m{sup -1}. The leads turned out to be too long. The same measurements were made using the leads that were installed in magnet 2B. The magnet 2B leads had an IL/A of 3.3 x 10{sup 6} A m{sup -1}. This report discusses the cooler performance and the measured electrical performance of the lead circuit that contains the copper leads and the superconducting leads. All of the HTS leads that were installed in magnet 2B were current tested using this apparatus.

  5. Bio science: genetic genealogy testing and the pursuit of African ancestry. (United States)

    Nelson, Alondra


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

  6. Subgroup effects despite homogeneous heterogeneity test results

    Directory of Open Access Journals (Sweden)

    Lubsen Jacobus


    Full Text Available Abstract Background Statistical tests of heterogeneity are very popular in meta-analyses, as heterogeneity might indicate subgroup effects. Lack of demonstrable statistical heterogeneity, however, might obscure clinical heterogeneity, meaning clinically relevant subgroup effects. Methods A qualitative, visual method to explore the potential for subgroup effects was provided by a modification of the forest plot, i.e., adding a vertical axis indicating the proportion of a subgroup variable in the individual trials. Such a plot was used to assess the potential for clinically relevant subgroup effects and was illustrated by a clinical example on the effects of antibiotics in children with acute otitis media. Results Statistical tests did not indicate heterogeneity in the meta-analysis on the effects of amoxicillin on acute otitis media (Q = 3.29, p = 0.51; I2 = 0%; T2 = 0. Nevertheless, in a modified forest plot, in which the individual trials were ordered by the proportion of children with bilateral otitis, a clear relation between bilaterality and treatment effects was observed (which was also found in an individual patient data meta-analysis of the included trials: p-value for interaction 0.021. Conclusions A modification of the forest plot, by including an additional (vertical axis indicating the proportion of a certain subgroup variable, is a qualitative, visual, and easy-to-interpret method to explore potential subgroup effects in studies included in meta-analyses.

  7. Flash lidar performance testing: configuration and results (United States)

    Poberezhskiy, Ilya; Johnson, Andrew; Chang, Daniel; Ek, Eric; Natzic, David; Spiers, Gary; Penniman, Steve; Short, Brad


    Future planetary and lunar landers can benefit from a hazard detection (HD) system that employs a lidar to create a highresolution 3D terrain map in the vicinity of the landing site and an onboard computer to process the lidar data and identify the safest landing site within the surveyed area. A divert maneuver would then be executed to land in this safe site. An HD system enables landing in regions with a relatively high hazard abundance that would otherwise be considered unacceptably risky, but are of high interest to the scientific community. A key component of a HD system is a lidar with the ability to generate a 3D terrain image with the required range precision in the prescribed time and fits within the project resource constraints. In this paper, we present the results obtained during performance testing of a prototype "GoldenEye" 3D flash lidar developed by ASC, Inc. The testing was performed at JPL with the lidar and the targets separated by 200 m. The analysis of the lidar performance obtained for different target types and albedos, pulse energies, and fields of view is presented and compared to key HD lidar requirements identified for the Mars 2018 lander.

  8. Tuned Chamber Core Panel Acoustic Test Results (United States)

    Schiller, Noah H.; Allen, Albert R.


    This report documents acoustic testing of tuned chamber core panels, which can be used to supplement the low-frequency performance of conventional acoustic treatment. The tuned chamber core concept incorporates low-frequency noise control directly within the primary structure and is applicable to sandwich constructions with a directional core, including corrugated-, truss-, and fluted-core designs. These types of sandwich structures have long, hollow channels (or chambers) in the core. By adding small holes through one of the facesheets, the hollow chambers can be utilized as an array of low-frequency acoustic resonators. These resonators can then be used to attenuate low-frequency noise (below 400 Hz) inside a vehicle compartment without increasing the weight or size of the structure. The results of this test program demonstrate that the tuned chamber core concept is effective when used in isolation or combined with acoustic foam treatments. Specifically, an array of acoustic resonators integrated within the core of the panels was shown to improve both the low-frequency absorption and transmission loss of the structure in targeted one-third octave bands.

  9. Analysis of CEDM test result(1)

    Energy Technology Data Exchange (ETDEWEB)

    Jun, H. G.; Chung, C. H.; Yoon, Y. J.; Donh, C. H.; Park, J. K. [Korea Atomic Energy Research Institute, Taejeon (Korea)


    The performance tests of the control element drive mechanism (CEDM) of Korean Next Generation Reactor(KNGR) were carried out. The performance tests consist of endurance test, power test, air cooling test and drop test. The endurance test was carried out to get 500,650 steps (31,290.6 ft) of CEDM movement. In power test, the motor driving power was measured for the cases of withdrawl, inserting, and holding states of CEDM. In air cooling test, the power to move the CEA was calculated from the measurements of temperature rising of air and it was compared with the measurement of power test. The 678 times of the drop test were carried out. For all drop tests, the drop time was shorter than the acceptance criteria of 4 sec. The effects of loop temperature and flow rate were investigated in drop test. After endurance test, the CEDM assembly was disassembled and visually inspected, and it was found out that the motor are not injured, bur the drive shaft is damaged seriously. 3 refs., 34 figs., 17 tabs. (Author)

  10. Commissioning of ALFABURST: initial tests and results

    CERN Document Server

    Rajwade, Kaustubh; Lorimer, Duncan; Karastergiou, Aris; Werthimer, Dan; Siemion, Andrew; MacMahon, David; Cobb, Jeff; Williams, Christopher; Armour, Wes


    Fast Radio Bursts (FRBs) are apparently one-time, relatively bright radio pulses that have been observed in recent years. The origin of FRBs is currently unknown and many instruments are being built to detect more of these bursts to better characterize their physical properties and identify the source population. ALFABURST is one such instrument. ALFABURST takes advantage of the 7-beam Arecibo L-band Feed Array (ALFA) receiver on the 305-m Arecibo Radio Telescope in Puerto Rico, to detect FRBs in real-time at L-band (1.4 GHz). We present the results of recent on-sky tests and observations undertaken during the commissioning phase of the instrument. ALFABURST is now available for commensal observations with other ALFA projects.

  11. What's New in Genetic Testing for Cancer Susceptibility? (United States)

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


    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.

  12. Results of the fourth Hanna field test

    Energy Technology Data Exchange (ETDEWEB)

    Covell, J. R.; Wojdac, L. F.; Barbour, F. A.; Gardner, G. W.; Glass, R.; Hommert, P. J.


    The second phase (Hanna IVB) of a coal gasification experiment near Hanna, Wyoming, was completed in September 1979. The experiment attempted to link and gasify coal between process wells spaced 34.3 meters apart. Intermediate wells were positioned between the process wells so that the link could be relayed over shorter distances. Reverse combustion linking was attempted over a 22.9-meter and a 11.4-meter distance of the total well spacing. Thermal activity was generally noted in the upper 3 meters of the coal seam during the link. Two attempts to gasify over the 34.3-meter distance resulted in the propagation of the burn front at the coal overburden interface. Post-burn evaluation indicates fractures as major influencing factors of the combustion process. The Hanna IVB field test provided much insight into influence that geologic features have on in situ coal combustion. The influence of these faults, permeable zones, and cleats, on the air flow patterns can drastically change the overall results of a gasification experiment and should be studied further. The overall results of Hanna IVB were discouraging because of the rapid decline in the heating values for the production gas and the amount of coal gasified. With more complete geologic characerization prior to experimentation and proper well completions, it is believed that most of the subsurface operational problems encountered during Hanna IV could have been avoided.

  13. 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


    ... 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...

  14. Psychiatrists' views of the genetic bases of mental disorders and behavioral traits and their use of genetic tests. (United States)

    Klitzman, Robert; Abbate, Kristopher J; Chung, Wendy K; Marder, Karen; Ottman, Ruth; Taber, Katherine Johansen; Leu, Cheng-Shiun; Appelbaum, Paul S


    We examined how 372 psychiatrists view genetic aspects of mental disorders and behaviors and use genetic tests (GTs). Most thought that the genetic contribution was moderate/high for bipolar disorder, schizophrenia, depression, Alzheimer's, intelligence, creativity, anxiety, and suicidality. In the past 6 months, 14.1% ordered GTs, 18.3% discussed prenatal testing with patients, 36.0% initiated discussions about other GTs, 41.6% had patients ask about GTs, and 5.3% excluded GT results from patient records. Many thought that GTs; were available for schizophrenia (24.3%) and major depression (19.6%). Women were more likely to report that patients asked about GTs; and were less certain about the degree of genetic contribution to several disorders. Psychiatrists perceive strong genetic bases for numerous disorders and traits, and many have discussed and ordered tests for GTs, but have relatively limited knowledge about available tests. These data suggest possible sex differences in psychiatrists' beliefs about genetic contributions to disorders and have implications for future research, education, policy, and care.

  15. Mainstreaming cancer genetics: A model integrating germline BRCA testing into routine ovarian cancer clinics. (United States)

    Kentwell, Maira; Dow, Eryn; Antill, Yoland; Wrede, C David; McNally, Orla; Higgs, Emily; Hamilton, Anne; Ananda, Sumitra; Lindeman, Geoffrey J; Scott, Clare L


    Owing to the rapid increase in clinical need, we aimed to implement and review the performance of a mainstreaming model of germline BRCA1/2 genetic testing in eligible women with high grade non-mucinous epithelial ovarian cancer via a Genetic Counselor embedded in the gynecology oncology clinic. The model implemented involved a specialized referral form, weekly genetics-lead multidisciplinary review of referrals, and pre- and post-test genetic counseling provided by an embedded genetic counselor during chemotherapy chair time. Performance and outcomes were retrospectively audited over the following two consecutive one year periods, including survey data on medical specialist comfort with mainstreaming and the model. Sixty-four women underwent mainstreamed BRCA1/2 testing over the two year post-implementation period with a rate of detection of BRCA1/2 pathogenic variants of 17%. The referral rate for eligible women significantly increased to over 90% (pgenetic testing results was less than five months, with >90% of patients receiving results during first line chemotherapy. Genetic counseling time decreased from 120 to 54min. Cancer specialists were comfortable with the model. The mainstreaming model proved effective, increasing uptake of genetic testing in eligible patients to over 90%; it was efficient for patients, genetic counselors and cancer specialists and acceptable to cancer specialists. It facilitated co-location of genetic and oncology service delivery but separation of clinical responsibility for genetic testing to a specialist genetics service, ensuring accurate and robust patient-centred care. Copyright © 2017 Elsevier Inc. All rights reserved.

  16. 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....

  17. Ethical Issues with Genetic Testing for Tay-Sachs. (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.

  18. A Test of Genetic Algorithms in Relevance Feedback. (United States)

    Lopez-Pujalte, Cristina; Guerrero Bote, Vicente P.; Moya Anegon, Felix de


    Discussion of information retrieval, query optimization techniques, and relevance feedback focuses on genetic algorithms, which are derived from artificial intelligence techniques. Describes an evaluation of different genetic algorithms using a residual collection method and compares results with the Ide dec-hi method (Salton and Buckley, 1990…

  19. Is genetic testing of value in predicting and treating obesity? (United States)

    Ng, Maggie C Y; Bowden, Donald W


    Obesity is a multifactorial disease resulting from the interaction between genetic factors and lifestyle. Identification of rare genetic variations with strong effects on obesity has been useful in diagnosing and designing personalized therapy for early-onset or syndromic obesity. However, common variants identified in recent genome-wide association studies have limited clinical value.

  20. Is Genetic Testing of Value in Predicting and Treating Obesity?


    Ng, Maggie C.Y.; Bowden, Donald W.


    Obesity is a multifactorial disease resulting from the interaction between genetic factors and lifestyle. Identification of rare genetic variations with strong effects on obesity has been useful in diagnosing and designing personalized therapy for early-onset or syndromic obesity. However, common variants identified in recent genome-wide association studies have limited clinical value.

  1. Genetic susceptibility testing from a stress and coping perspective. (United States)

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


    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.

  2. Summary of CPAS EDU Testing Analysis Results (United States)

    Romero, Leah M.; Bledsoe, Kristin J.; Davidson, John.; Engert, Meagan E.; Fraire, Usbaldo, Jr.; Galaviz, Fernando S.; Galvin, Patrick J.; Ray, Eric S.; Varela, Jose


    The Orion program's Capsule Parachute Assembly System (CPAS) project is currently conducting its third generation of testing, the Engineering Development Unit (EDU) series. This series utilizes two test articles, a dart-shaped Parachute Compartment Drop Test Vehicle (PCDTV) and capsule-shaped Parachute Test Vehicle (PTV), both of which include a full size, flight-like parachute system and require a pallet delivery system for aircraft extraction. To date, 15 tests have been completed, including six with PCDTVs and nine with PTVs. Two of the PTV tests included the Forward Bay Cover (FBC) provided by Lockheed Martin. Advancements in modeling techniques applicable to parachute fly-out, vehicle rate of descent, torque, and load train, also occurred during the EDU testing series. An upgrade from a composite to an independent parachute simulation allowed parachute modeling at a higher level of fidelity than during previous generations. The complexity of separating the test vehicles from their pallet delivery systems necessitated the use the Automatic Dynamic Analysis of Mechanical Systems (ADAMS) simulator for modeling mated vehicle aircraft extraction and separation. This paper gives an overview of each EDU test and summarizes the development of CPAS analysis tools and techniques during EDU testing.

  3. Consumer preferences for the predictive genetic tests for Alzheimer’s disease

    Directory of Open Access Journals (Sweden)

    Ming-Yi Huang


    Full Text Available With the advent of predictive genetic tests, individuals will have the option to investigate their future risk of developing diseases like Alzheimer’s disease (AD. This knowledge can benefit people as they start to prepare themselves as well as their families for the disease process. The use of predictive genetic tests will likely increase as technology and genetic marker identification continues to advance. Thus, aligning the clinical practice of predictive genetic testing for Alzheimer’s disease with patient values and preferences has the potential to improve healthcare delivery. Several issues have been identified in this review regarding people’s preference when making a decision to test for AD, which include prediction value (i.e. false-positive/false-negative results, availability of treatments that would prevent or delay onset of AD, and anonymity/confidentiality. Literature indicates the most relevant issues regarding consumer preference for AD genetic testing is predictive value (accuracy. While fewer studies have discussed the effects of treatment availability or anonymity on consumer preference, these issues may become more important as technology continues to advance and public awareness of these issues increases. Future research in the area of consumer behavior with regard to predictive genetic testing is suggested.Most previous studies regarding consumer intent and preference for AD genetic tests have used small samples, convenience samples, or samples which were predominantly Caucasian, female and high socioeconomic status. Additionally, effects of most socio-demographics on the preference for AD genetic test are unclear in the literature. Conflicting results have been found regarding gender, education, income, and culture. An extension of the previous work using a larger and randomized sample may help to provide clearer relationship between these socio-demographics and consumer preference for AD genetic test

  4. Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families. (United States)

    Wu, Rebecca L; Lawson, Cathleen S; Jabs, Ethylin Wang; Sanderson, Saskia C


    Treacher Collins syndrome (TCS) is a craniofacial syndrome that is both phenotypically variable and heterogeneous, caused by mutations in the TCOF1, POLR1C, and POLR1D genes. We examined attitudes towards TCS prenatal genetic testing among affected families using a telephone questionnaire. Participants were 31 affected adults and relatives recruited primarily through families cared for in the mid-Atlantic region. Nineteen participants (65%) reported that they would take a TCS prenatal genetic test which could not predict degree of disease severity. Interest in TCS genetic testing was associated with higher income, higher concern about having a child with TCS, lower religiosity, lower concern about genetic testing procedures, and having a sporadic rather than familial mutation. Over half reported that their decision to have TCS genetic testing would be influenced a great deal by their desire to relieve anxiety and attitudes toward abortion. Ten participants (32%) reported that they would be likely to end the pregnancy upon receiving a positive test result; this was lower amongst TCS affected individuals and higher amongst participants with children with TCS. Genetics healthcare providers need to be aware of affected individuals' and families' attitudes and interest in prenatal genetic testing for TCS, and the possible implications for other craniofacial disorders, so that patients' information needs can be met.

  5. Acknowledging the results of blood tests

    DEFF Research Database (Denmark)

    Torkilsheyggi, Arnvør Martinsdottir á; Hertzum, Morten

    At the studied hospital, physicians from the Medical and Surgical Departments work some of their shifts in the Emergency Department (ED). Though icons showing the blood-test process were introduced on electronic whiteboards in the ED, these icons did not lead to increased attention to test...

  6. Deaf genetic testing and psychological well-being in deaf adults. (United States)

    Palmer, Christina G S; Boudreault, Patrick; Baldwin, Erin E; Fox, Michelle; Deignan, Joshua L; Kobayashi, Yoko; Sininger, Yvonne; Grody, Wayne; Sinsheimer, Janet S


    Limited data suggest that enhanced self-knowledge from genetic information related to non-medical traits can have a positive impact on psychological well-being. Deaf individuals undertake genetic testing for deaf genes to increase self-knowledge. Because deafness is considered a non-medical trait by many individuals, we hypothesized that deaf individuals receiving a genetic explanation for why they are deaf will experience increased psychological well-being. We report results from a prospective, longitudinal study to determine the impact of genetic testing (GJB2, Cx26; GJB6, Cx30) on perceived personal control (PPC), anxiety, and depression in deaf adults (N = 209) assessed following pre-test genetic counseling as well as 1-month and 6-months following test result disclosure. Participants were classified as Cx positive (n = 82) or Cx negative/inconclusive (n = 127). There was significant evidence for Cx group differences in PPC and anxiety over time (PPC: Cx group*time interaction p = 0.0007; anxiety: Cx group*time interaction p = 0.002), where PPC scores were significantly higher, and anxiety scores were significantly lower for the Cx positive group relative to the negative/inconclusive group following test result disclosure. Compared to pre-test, PPC scores increased at 1-month (p = 0.07) and anxiety scores decreased at 6-months (p = 0.03) for the Cx positive group. In contrast, PPC scores decreased (p = 0.009, p test result disclosure. Genetic testing for deaf genes affects the psychological well-being of deaf individuals. Increasing deaf adults' access to genetic testing may potentially enhance self-knowledge and increase psychological well-being for those who receive a genetic explanation, which could offer downstream health benefits.

  7. A Parallel Genetic Algorithm Based on Spark for Pairwise Test Suite Generation

    Institute of Scientific and Technical Information of China (English)

    Rong-Zhi Qi; Zhi-Jian Wang; Shui-Yan Li


    Pairwise testing is an effective test generation technique that requires all pairs of parameter values to be covered by at least one test case. It has been proven that generating minimum test suite is an NP-complete problem. Genetic algorithms have been used for pairwise test suite generation by researchers. However, it is always a time-consuming process, which leads to significant limitations and obstacles for practical use of genetic algorithms towards large-scale test problems. Parallelism will be an effective way to not only enhance the computation performance but also improve the quality of the solutions. In this paper, we use Spark, a fast and general parallel computing platform, to parallelize the genetic algorithm to tackle the problem. We propose a two-phase parallelization algorithm including fitness evaluation parallelization and genetic operation parallelization. Experimental results show that our algorithm outperforms the sequential genetic algorithm and competes with other approaches in both test suite size and computational performance. As a result, our algorithm is a promising improvement of the genetic algorithm for pairwise test suite generation.

  8. [Genetic test for cancer and intra-family communication: freedom vs. responsibility]. (United States)

    Di Pietro, M L; Di Raimo, F R; Teleman, A A; Refolo, P


    Genetic tests affect not only single patients but also their genetic relatives. In some cases, they in fact allow to acquire information not only about a single patient, but also about those who are genetically linked (genetic relatives). By appealing to the principle of autonomy, the patient can refuse to be informed of the test result, or to inform their relatives on the risk of a pathology. How might the relatives' right to know be reconciled with the will of a patient who refuses to know or to inform? Among the large number of moral dilemmas that this field can raise, the article aims to reply to the above mentioned question and to analyse in depth some aspects of intra-family communication within the field of genetic tests for cancer.

  9. Pharmacogenomics Bias - Systematic distortion of study results by genetic heterogeneity

    Directory of Open Access Journals (Sweden)

    Zietemann, Vera


    Full Text Available Background: Decision analyses of drug treatments in chronic diseases require modeling the progression of disease and treatment response beyond the time horizon of clinical or epidemiological studies. In many such models, progression and drug effect have been applied uniformly to all patients; heterogeneity in progression, including pharmacogenomic effects, has been ignored. Objective: We sought to systematically evaluate the existence, direction and relative magnitude of a pharmacogenomics bias (PGX-Bias resulting from failure to adjust for genetic heterogeneity in both treatment response (HT and heterogeneity in progression of disease (HP in decision-analytic studies based on clinical study data. Methods: We performed a systematic literature search in electronic databases for studies regarding the effect of genetic heterogeneity on the validity of study results. Included studies have been summarized in evidence tables. In the case of lacking evidence from published studies we sought to perform our own simulation considering both HT and HP. We constructed two simple Markov models with three basic health states (early-stage disease, late-stage disease, dead, one adjusting and the other not adjusting for genetic heterogeneity. Adjustment was done by creating different disease states for presence (G+ and absence (G- of a dichotomous genetic factor. We compared the life expectancy gains attributable to treatment resulting from both models and defined pharmacogenomics bias as percent deviation of treatment-related life expectancy gains in the unadjusted model from those in the adjusted model. We calculated the bias as a function of underlying model parameters to create generic results. We then applied our model to lipid-lowering therapy with pravastatin in patients with coronary atherosclerosis, incorporating the influence of two TaqIB polymorphism variants (B1 and B2 on progression and drug efficacy as reported in the DNA substudy of the REGRESS

  10. An Adaptive Genetic Association Test Using Double Kernel Machines. (United States)

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


    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.

  11. Genetic testing for Lynch syndrome: family communication and motivation. (United States)

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


    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.

  12. Genetic erosion in crops: concept, research results and challenges

    NARCIS (Netherlands)

    Wouw, van de M.J.; Kik, C.; Hintum, van T.J.L.; Treuren, van R.; Visser, L.


    The loss of variation in crops clue to the modernization of agriculture has been described as genetic erosion The current paper discusses the different views that exist on the concept of genetic erosion in crops Genetic erosion of cultivated diversity is reflected in a modernization bottleneck in th

  13. Impact of Genetic Counseling and Testing on Altruistic Motivations to Test for BRCA1/2: a Longitudinal Study. (United States)

    Garg, Rahul; Vogelgesang, Joseph; Kelly, Kimberly


    Despite the importance of altruism in an individual's participation in genetic counseling and testing, little research has explored the change in altruistic motivations to test over time. This study analyzed altruistic motivations to test and change in altruistic motivations after genetic counseling and testing among individuals (N = 120) at elevated risk for BRCA1/2 mutations. The perceived benefits of genetic testing were assessed and utilized in a mixed-methods, repeated measures design at three time points: pre-counseling, counseling and post-genetic testing, along with transcripts of genetic counseling sessions. Qualitative analysis using an immersion/crystallization method resulted in six common perceived benefits of testing: cancer prevention, awareness, family's survival, relief from anxiety, for science, and future planning. Perceived benefits were then coded into three categories according to Hamilton's kin selection theory: altruistic motivation, personal motivation, and motivation for mutual benefit. At pre-counseling, those with a personal cancer history (p = 0.003) and those with one or more children (p = 0.013), were significantly more likely to cite altruistic motivations to test. Altruistic motivations significantly increased post-counseling (p = 0.01) but declined post-testing (p motivations. The possibility of a positive test result might have led those with personal history of cancer to have altruistic motivations for testing. Genetic counseling may have increased altruistic motivations to help family and may be a prime opportunity to discuss other forms of altruism.

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

    CERN Document Server

    Vinh, Nguyen Xuan


    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.

  15. Patients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophilia

    Directory of Open Access Journals (Sweden)

    Shepherd Maggie H


    Full Text Available Abstract Background UK and US policy initiatives have suggested that, in the future, patients and clinicians in mainstream medicine could use genetic information to prevent common illnesses. There are no studies on patients' experience and understanding of the process of testing for common genetic susceptibilities in mainstream medicine. Methods Qualitative interviews with 42 individuals who had undergone testing for a genetic susceptibility for deep vein thrombosis in primary and secondary care in the UK. Results Some participants, often from higher social classes, had a good understanding of the test and its implications. They had often sought additional information on thrombophilia from relatives and from the Internet. Others, often from less privileged backgrounds, had a poorer understanding of the test – seven individuals were unaware of having had the genetic test. Features of genetic information led to misunderstandings: (i at referral, (ii when communicating results, and (iii when making sense of the implications of testing. Participants' accounts indicated that non-specialist doctors may feel obliged to refer a patient for a genetic test they know little about, because a patient requests it after a relative had tested positive. Sometimes a referral for a genetic test was lost under information overload when multiple tests and issues were considered. The inconsistent and informal ways of communicating test results – for example by phone – in mainstream medicine also led to confusion. Participants did not generally overestimate their risk, but some were uncertain about whether they were taking the right preventive actions and/or whether their children were at risk. Information about genetic susceptibilities was difficult to make sense of, as it related to ambiguous risks for participants and family members, complicated and unfamiliar terminology and multiple genes and preventive strategies. Conclusion Policy visions of clinicians

  16. Psychological distress and quality of life associated with genetic testing for breast cancer risk. (United States)

    Smith, Ashley Wilder; Dougall, Angela Liegey; Posluszny, Donna M; Somers, Tamara J; Rubinstein, Wendy S; Baum, Andrew


    This study investigated short- and long-term psychological outcomes associated with BRCA1/2 genetic testing in women with a personal or family history of breast cancer. Participants included 126 women considering genetic testing. Questionnaires were administered prior to testing, one week, three and six months after result disclosure. Results indicated no systematic effects of testing based on personal cancer history. Mutation carriers and women who elected not to be tested reported greater perceived risk and intrusive and avoidant thoughts at follow-up time points than did women who received negative (uninformative) or variant results. Mutation carriers reported more distress at the three-month follow-up but by six months the effects of test result on distress dissipated and groups were comparable. Cluster analyses identified two groups of individuals based on distress at baseline; these groups were used to predict psychological outcomes after testing. Distress remained constant in both groups: those who were high at baseline remained high and those who were low remained low. Test results did not moderate this effect. Results suggest that genetic testing for BRCA1/2 does not increase distress or have deleterious effects on quality of life over the long term. However, sub-groups of women may report more distress over time. These data indicate the need for more targeted counseling to individuals who report high levels of distress when considering genetic testing.

  17. Medical Students Knowledge and Attitude Towards Direct-To-Consumer Genetic Tests


    Luca Giraldi; Marco Colotto; Roberta Pastorino; Dario Arzani; Christian Ineichen; Effy Vayena; Stefania Boccia


    Aims: This study reports on the attitudes of 179 Italian Medical Students to direct-to-consumer genetic test and to participation in research practices. Methods: Data were collected using a self-completion online questionnaire sent to 380 medical students at the faculty of Medicine of the Università Cattolica del Sacro Cuore in Rome, Italy. Questions pertained issues related to awareness and attitudes towards genetic testing, reactions to hypothetical results, and views about contributing...

  18. Role of phenotypic and genetic testing in managing clopidogrel therapy. (United States)

    Chan, Noel C; Eikelboom, John W; Ginsberg, Jeffrey S; Lauw, Mandy N; Vanassche, Thomas; Weitz, Jeffrey I; Hirsh, Jack


    The P2Y12 inhibitors, clopidogrel, prasugrel, and ticagrelor, are administered in fixed doses without laboratory monitoring. Randomized trials in acute coronary syndrome have shown that prasugrel and ticagrelor are more effective than standard-dose clopidogrel. Nonetheless, standard-dose clopidogrel remains widely used because it causes less bleeding and is less expensive. Patients treated with standard-dose clopidogrel have substantial variability in platelet inhibition, which is partly explained by genetic polymorphisms encoding CYP2C19, the hepatic enzyme involved in biotransformation of clopidogrel to its active metabolite. Some advocate tailoring P2Y12 inhibitor therapy according to the results of routine laboratory testing. Although there is good evidence for analytic, biological, and clinical validity of several phenotypic and genotypic biomarkers, the benefit of a management strategy that incorporates routine biomarker testing over standard of care without such testing remains unproven. Appropriately designed, adequately powered trials are needed but face the challenges of feasibility, cost, and the progressive switch from clopidogrel to prasugrel or ticagrelor.

  19. New Results on Quantum Property Testing

    CERN Document Server

    Chakraborty, Sourav; Matsliah, Arie; de Wolf, Ronald


    We present several new examples of speed-ups obtainable by quantum algorithms in the context of property testing. First, motivated by sampling algorithms, we consider probability distributions given in the form of an oracle $f:[n]\\to[m]$. Here the probability $\\PP_f(j)$ of an outcome $j\\in[m]$ is the fraction of its domain that $f$ maps to $j$. We give quantum algorithms for testing whether two such distributions are identical or $\\epsilon$-far in $L_1$-norm. Recently, Bravyi, Hassidim, and Harrow~\\cite{BHH10} showed that if $\\PP_f$ and $\\PP_g$ are both unknown (i.e., given by oracles $f$ and $g$), then this testing can be done in roughly $\\sqrt{m}$ quantum queries to the functions. We consider the case where the second distribution is known, and show that testing can be done with roughly $m^{1/3}$ quantum queries, which we prove to be essentially optimal. In contrast, it is known that classical testing algorithms need about $m^{2/3}$ queries in the unknown-unknown case and about $\\sqrt{m}$ queries in the kno...

  20. Flexible Ablators Char Depths LHMEL Test Results (United States)

    White, Susan; Qu, Vince; Fan, Wendy; Stackpoole, Mairead; Thornton, Jeremy


    Char and pyrolysis zone depths give physical evidence of peak temperature reached in depth: The pyrolyzing material acts as a temperature indicator within its characteristic thermal decomposition range. A matrix of novel flexible ablators were laser tested in one component of material screening for NASA Entry, Descent and Landing research for future Mars missions. LHMEL tests were run both on virgin materials, and on previously charred materials for a dual pulse simulation of the heating due to aerocapture followed by atmospheric entry. The test models were machined to expose the cross-sections. Char measurements were made at three locations near the center of the exposed area. Data are presented showing the char depths developed in these flexible materials, grouped by reinforcing fiber and pyrolyzing material type.

  1. Motivating factors for physician ordering of factor V Leiden genetic tests. (United States)

    Hindorff, Lucia A; Burke, Wylie; Laberge, Anne-Marie; Rice, Kenneth M; Lumley, Thomas; Leppig, Kathleen; Rosendaal, Frits R; Larson, Eric B; Psaty, Bruce M


    The factor V Leiden (FVL) genetic test is used by many physicians despite its uncertain clinical utility. We investigate whether self-reported motivations and behaviors concerning FVL genetic testing differ between 2 groups of primary care physicians defined by frequency of previous FVL test use. In January 2007, 112 physicians (60 frequent and 52 infrequent FVL test users) at Group Health, a large health care delivery system, were surveyed. Survey content areas included primary reasons and motivating factors for ordering the FVL test, the likelihood of ordering the FVL test for hypothetical patients, potential barriers to genetic testing, and practices and skills regarding FVL test ordering. Responses between groups agreed concerning most clinical- and patient-related factors. Frequent-FVL physicians were more likely than infrequent-FVL physicians to report ordering the FVL test for hypothetical patients with mesenteric venous thrombosis (adjusted odds ratio, 4.57; 95% confidence interval, 1.55-13.53) or venous thrombosis after hospital discharge (adjusted odds ratio, 3.42; 95% confidence interval, 1.30-8.95). Frequent-FVL physicians were also less likely to identify several items on the survey as barriers to genetic testing and were more likely to report high confidence in interpreting and explaining FVL test results. Generally, both physician groups reported similar motivating factors for ordering FVL tests, and reported behaviors were consistent with existing guidelines. More striking differences were observed for measures such as barriers to and confidence in using genetic tests. Although additional research is necessary to evaluate the impact of these results, they inform several knowledge-to-practice translation issues that are important for the successful integration of genetic testing into primary care.

  2. A Genetic Lung Cancer Susceptibility Test may have a Positive Effect on Smoking Cessation. (United States)

    Kammin, Tammy; Fenton, Andrew K; Thirlaway, Kathryn


    Smoking increases the risk of developing lung cancer. Genetic loci have been identified which could form the basis of a lung cancer susceptibility test; but little is known whether such a test would interest or motivate those trying to quit smoking. To address this, we investigated the attitudes of people trying to quit smoking towards genetic susceptibility testing for lung cancer. Participant's attitudes to topics associated with lung cancer susceptibility testing were assessed; were they interested in genetic testing? What impact would a hypothetical high- or low- risk result have on smoking cessation? 680 self-completion questionnaires were given to individuals attending National Health Service stop smoking clinics in three different areas of the United Kingdom between 2011 and 2012. 139 questionnaires were returned, giving a 20 % response rate. Participants expressed an interest in a genetic susceptibility test for lung cancer and almost all reported that a high-risk result would increase their motivation to stop smoking. However, many participants had a neutral attitude towards a low-risk result. Most participants agreed their smoking habit could lead to lung cancer. Lung cancer susceptibility testing may be a useful incentive to help people quit smoking. This study suggests the need for genetic services to work with smoking cessation teams if routine testing becomes available in the future.

  3. Identification of patients at high risk of psychological distress after BRCA1 genetic testing. (United States)

    Ertmański, Sławomir; Metcalfe, Kelly; Trempała, Janusz; Głowacka, Maria Danuta; Lubiński, Jan; Narod, Steven A; Gronwald, Jacek


    To predict which women might suffer from abnormally high levels of anxiety and depression after receiving a positive genetic BRCA1 test result, series of pregenetic testing and postgenetic testing psychological measurements were performed. Of 3524 women who returned the psychological test sheets before receiving their genetic test result, 111 women were found to carry a BRCA1 mutation. We found that overall, anxiety does not increase in women who receive a positive BRCA1 genetic test result; however, women who experience high levels of anxiety before genetic testing continue to experience high levels of anxiety up to 1 year posttesting. There were differences in cancer-related distress in affected and unaffected women. BRCA1 carriers with a previous diagnosis of cancer had significantly higher levels of cancer-related distress at 1 month posttest than those without cancer. Our findings suggest that healthcare providers should consider including a brief pretest psychological assessment before initiating genetic testing for BRCA1 and BRCA2.

  4. A Clinical Perspective on Ethical Issues in Genetic Testing

    NARCIS (Netherlands)

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


    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

  5. Round Robin Fatigue Crack Growth Testing Results (United States)


    Equipment and Setup a. SATEC b. 20 kip (7075-T6); 55 kip (2024-T351) c. Test control hardware/ software i. Hardware: Teststar Ilm ii. Software : Station...Stractlvrai Lif,"e Exteraiocn (CAStLE) DeOartn~ont of Enineering Mechanics, FIC US~.TA/DFFN 1DSA-FA-*rR-2006-10 23-54 arhi Drive, Suite 2J2, U-SAF Academy CO

  6. Results of Final Focus Test Beam

    Energy Technology Data Exchange (ETDEWEB)

    Walz, Dieter R


    The beam experiments of Final Focus Test Beam (FFTB) started in September 1993 at SLAC, and have produced a 1.7 {micro}m x 75 nm spot of 46 GeV electron beam. A number of new techniques involving two nanometer spot-size monitors have been developed. Several beam diagnostic/tuning schemes are applied to achieve and maintain the small spot. This experiment opens the way toward the nanometer world for future linear colliders.


    CERN Document Server

    Weingarten, W


    The report summarizes the requirements needed to further develop the technology of RF superconductivity for accelerator application beyond the present state of the art. In relation to emerging European accelerator projects present collaboration schemes are identified. The required test capacities are described and compared with the available ones. Based on a short historical review, the actual performance limits of superconducting cavities are evaluated and measures are proposed to overcome them.

  8. Preliminary Results of Field Emission Cathode Tests (United States)

    Sovey, James S.; Kovaleski, Scott D.


    Preliminary screening tests of field emission cathodes such as chemical vapor deposited (CVD) diamond, textured pyrolytic graphite, and textured copper were conducted at background pressures typical of electric thruster test facilities to assess cathode performance and stability. Very low power electric thrusters which provide tens to hundreds micronewtons of thrust may need field emission neutralizers that have a capability of tens to hundreds of microamperes. From current voltage characteristics, it was found that the CVD diamond and textured metals cathodes clearly satisfied the Fowler-Nordheim emission relation. The CVD diamond and a textured copper cathode had average current densities of 270 and 380 mA/sq cm, respectively, at the beginning-of-life. After a few hours of operation the cathode emission currents degraded by 40 to 75% at background pressures in the 10(exp -5) Pa to 10(exp -4) Pa range. The textured pyrolytic graphite had a modest current density at beginning-of-life of 84 mA/sq cm, but this cathode was the most stable of all. Extended testing of the most promising cathodes is warranted to determine if current degradation is a burn-in effect or whether it is a long-term degradation process. Preliminary experiments with ferroelectric emission cathodes, which are ceramics with spontaneous electric polarization, were conducted. Peak current densities of 30 to 120 mA/sq cm were obtained for pulse durations of about 500 ns in the 10(exp -4) Pa pressure range.

  9. Results of workplace drug testing in Norway

    Directory of Open Access Journals (Sweden)

    Hilde Marie Erøy Lund


    Full Text Available Workplace drug testing is less common in Norway than in many other countries. During the period from 2000-2006, 13469 urine or blood samples from employees in the offshore industry, shipping companies and aviation industry were submitted to the Norwegian Institute of Public Health for drug testing. The samples were analysed for benzodiazepines, illicit drugs, muscle relaxants with sedating properties, opioids and z-hypnotics. In total, 2.9% of the samples were positive for one or more substances. During the study period the prevalence decreased for morphine (from 1.9% to 1.1% and increased for amphetamine (from 0.04% to 0.6%, clonazepam (from 0% to 0.1%, methamphetamine (from 0.04% to 0.6%, nitrazepam (from 0% to 0.4% and oxazepam (from 0.5% to 1.3% (p<0.05. There was no significant change in prevalence for the other substances included in the analytical programme. Illicit drugs were significantly associated with lower age (OR: 0.93, p<0.05. This study found low prevalence of drugs among employees in companies with workplace drug testing programmes in Norway.

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

    Directory of Open Access Journals (Sweden)

    Kiely B


    Full Text Available Bridget Kiely, Sujit Vettam, Andrew Adesman Division of Developmental and Behavioral Pediatrics, Department of Pediatrics, Steven and Alexandra Cohen Children’s Medical Center of New York, New Hyde Park, NY, USA Purpose: Several professional societies recommend that genetic testing be routinely included in the etiologic workup of children with developmental disabilities. The aim of this study was to determine the rate at which genetic testing is performed in this population, based on data from a nationally representative survey.Methods: Data were analyzed from the Survey of Pathways to Diagnosis and Services, a telephone-based survey of parents and guardians of US school-age children with current or past developmental conditions. This study included 3,371 respondents who indicated that their child had an autism spectrum disorder (ASD, intellectual disability (ID, and/or developmental delay (DD at the time of survey administration. History of genetic testing was assessed based on report by the parent/s. Children were divided into the following five mutually exclusive condition groups: ASD with ID; ASD with DD, without ID; ASD only, without ID or DD; ID without ASD; and DD only, without ID or ASD. Logistic regression was used to assess the demographic correlates of genetic testing, to compare the rates of genetic testing across groups, and to examine associations between genetic testing and use of other health-care services.Results: Overall, 32% of this sample had a history of genetic testing, including 34% of all children with ASD and 43% of those with ID. After adjusting for demographics, children with ASD + ID were more than seven times as likely as those with ASD only, and more than twice as likely as those who had ID without ASD, to have undergone genetic testing. Prior specialist care (developmental pediatrician or neurologist and access to all needed providers within the previous year were associated with higher odds of genetic testing

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

    Directory of Open Access Journals (Sweden)

    Dolapchiev Ivaylo


    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.

  12. Psychological impact of genetic testing for Huntington's disease: an update of the literature. (United States)

    Meiser, B; Dunn, S


    Genetic testing has been available for Huntington's disease for longer than any other adult onset genetic disorder. The discovery of the genetic mutation causing Huntington's disease made possible the use of predictive testing to identify currently unaffected carriers. Concerns have been raised that predictive testing may lead to an increase in deaths by suicide among identified carriers, and these concerns set in motion research to assess the psychological impact of predictive testing for Huntington's disease. This review article provides an overview of the literature and draws implications for clinical practice. About 10%-20% of people at risk request testing when approached by registries or testing centres. Most of the evidence suggests that non-carriers and carriers differ significantly in terms of short term, but not long term, general psychological distress. Adjustment to results was found to depend more on psychological adjustment before testing than the testing result itself. Although risk factors for psychological sequelae have been identified, few adverse events have been described and no obvious contraindications for testing people at risk have been identified. The psychological impact of testing may depend on whether testing was based on linkage analysis or mutation detection. Cohorts enrolled in mutation detection programmes have higher levels of depression before and after testing, compared with people who sought genetic testing when linkage analysis was available. There is evidence that people who choose to be tested are psychologically selected for a favourable response to testing. The impact of testing on people in settings where less intensive counselling protocols and eligibility criteria are used is unknown, and genetic testing is therefore best offered as part of comprehensive specialist counselling.

  13. Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy. (United States)

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


    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.

  14. Attitudes Toward Breast Cancer Genetic Testing in Five Special Population Groups. (United States)

    Ramirez, Amelie G; Chalela, Patricia; Gallion, Kipling J; Muñoz, Edgar; Holden, Alan E; Burhansstipanov, Linda; Smith, Selina A; Wong-Kim, Evaon; Wyatt, Stephen W; Suarez, Lucina


    This study examined interest in and attitudes toward genetic testing in 5 different population groups. The survey included African American, Asian American, Latina, Native American, and Appalachian women with varying familial histories of breast cancer. A total of 49 women were interviewed in person. Descriptive and nonparametric statistical techniques were used to assess ethnic group differences. Overall, interest in testing was high. All groups endorsed more benefits than risks. There were group differences regarding endorsement of specific benefits and risks: testing to "follow doctor recommendations" (p=0.017), "concern for effects on family" (p=0.044), "distrust of modern medicine" (p=0.036), "cost" (p=0.025), and "concerns about communication of results to others" (p=0.032). There was a significant inverse relationship between interest and genetic testing cost (p<0.050), with the exception of Latinas, who showed the highest level of interest regardless of increasing cost. Cost may be an important barrier to obtaining genetic testing services, and participants would benefit by genetic counseling that incorporates the unique cultural values and beliefs of each group to create an individualized, culturally competent program. Further research about attitudes toward genetic testing is needed among Asian Americans, Native Americans, and Appalachians for whom data are severely lacking. Future study of the different Latina perceptions toward genetic testing are encouraged.

  15. Challenges in interpretation of thyroid hormone test results

    Directory of Open Access Journals (Sweden)

    Lalić Tijana


    Full Text Available Introduction. In interpreting thyroid hormones results it is preferable to think of interference and changes in concentration of their carrier proteins. Outline of Cases. We present two patients with discrepancy between the results of thyroid function tests and clinical status. The first case presents a 62-year-old patient with a nodular goiter and Hashimoto thyroiditis. Thyroid function test showed low thyroid-stimulating hormone (TSH and normal to low fT4. By determining thyroid status (ТSH, T4, fT4, T3, fT3 in two laboratories, basal and after dilution, as well as thyroxine-binding globulin (TBG, it was concluded that the thyroid hormone levels were normal. The results were influenced by heterophile antibodies leading to a false lower TSH level and suspected secondary hypothyroidism. The second case, a 40-year-old patient, was examined and followed because of the variable size thyroid nodule and initially borderline elevated TSH, after which thyroid status showed low level of total thyroid hormones and normal TSH. Based on additional analysis it was concluded that low T4 and T3 were a result of low TBG. It is a hereditary genetic disorder with no clinical significance. Conclusion. Erroneous diagnosis of thyroid disorders and potentially harmful treatment could be avoided by proving the interference or TBG deficiency whenever there is a discrepancy between the thyroid function results and the clinical picture.

  16. Results from some anode wire aging tests

    Energy Technology Data Exchange (ETDEWEB)

    Juricic, I.; Kadyk, J.A.


    Using twin setups to test anode wire aging in small gas avalanche tubes, a variety of different gas mixtures were tried and other parameters were varied to study their effects upon the gain drop, nomalized to charge transfer: - 1/Q dI/I. This was found to be quite sensitive to the purity of the gases, and also sensitive to the nominal gain and the gas flow rate. The wire surface material can also significantly affect the aging, as can additives, such as ethanol or water vapor. Certain gas mixtures have been found to be consistent with zero aging at the sensitivity level of this technique.

  17. Test Results of a Phi Monitoring System

    CERN Document Server

    Figueroa, Carlos; Burgos, C; Ferrrando, A; Matorras, Francisco; Molinero, Antonio; Rodriguo, T; Shvachkin, V


    The development and tests of a Phi monitoring system prototype designed for the CMS Muon Spectrometer alignment are described. The system, using a sweeping laser beam, defines a light reference plane to be used for the continuous monitoring of the Muon detectors. The performance of the system in the Laboratory was satisfactory. It showed good stability and linearity response behaviour. With the appropriate selection of components it can monitor large range position shifts ( up to 1-2 cm) with good accuracy at long distances ( ~ 60 mu accuracy at 10 m).

  18. Who Pays? Coverage Challenges for Cardiovascular Genetic Testing in U.S. Patients

    Directory of Open Access Journals (Sweden)

    Katherine Grace Spoonamore


    Full Text Available Inherited cardiovascular conditions are common, and comprehensive care of affected families often involves genetic testing. When the clinical presentations of these conditions overlap, genetic testing may clarify diagnoses, etiologies, and treatments in symptomatic individuals and facilitate the identification of asymptomatic, at-risk relatives, allowing for often life-saving preventative care. Although some professional society guidelines on inherited cardiac conditions include genetic testing recommendations, they quickly become outdated owing to the rapid expansion and use of such testing. Currently, these guidelines primarily discuss the benefits of targeted genetic testing for identifying at-risk relatives. Although most insurance policies acknowledge the benefit and necessity of this testing, many exclude coverage for testing altogether or are vague about coverage for testing in probands, which is imperative if clinicians are to have the best chance of accurately identifying pathogenic variant(s in a family. In response to uncertainties about coverage, many commercial cardiovascular genetic testing laboratories have shouldered the burden of working directly with commercial payers and protecting patients/institutions from out-of-pocket costs. As a result, many clinicians are unaware that payer coverage policies may not match professional recommendations for cardiovascular genetic testing. This conundrum has left patients, clinicians, payers, and laboratories at an impasse when determining the best path forward for meaningful and sustainable testing. Herein we discuss the need for all involved parties to recognize their common goals in this process, which should motivate collaboration in changing existing frameworks and creating more sustainable access to genetic information for families with inherited cardiovascular conditions.

  19. The Evaluation of Prick Test Results in Malatya

    Directory of Open Access Journals (Sweden)

    Hasan Kahraman


    Full Text Available Aim: Skin prick test used for determination of allergic diseases is an easy, cheap, safe, fast, and frequently utilized test. There are factors such as genetic tendency, climate, humidity, vegetation, and altitude affecting the development of allergy. Our goal is to determine the allergic susceptibility of allergic patient in Malatya province. Material and Method: The 403 patients who referred to our chest clinic in Malatya between January 2008 and June 2010 with complaint of respiratory allergic diseases including asthma and allergic rhinitis were retrospectively investigated. Skin prick test results were evaluated according to age and gender. Results: Of the 403 patients incorporated to the study, 177 (43.9% were male, 226 (56.1% were female. Most common reaction was against to grasses, in 78 patients (19.4%. The other common reactions were found against to grains, in 70 patients (17.4%; to D. Farinea in 51 patients (12.7%; to D Pteronyssinus in 44 patients (10.9%; to grass mix in 41 patients (10.2%. Although reactions were higher in men than in women, only against to D. Pteronyssinus was statistical significant (p=0.032. Reactions were observed most commonly in 10-19 age group and secondly in 20-29 age group. Discussion: Atopic patients in Malatya province should be careful especially against to grasses, grains, and house dust mites.


    Energy Technology Data Exchange (ETDEWEB)

    Nash, C. [Savannah River Site (SRS), Aiken, SC (United States). Savannah River National Lab. (SRNL); Fowley, M. [Savannah River Site (SRS), Aiken, SC (United States). Savannah River National Lab. (SRNL)


    This memo presents an experimental survey of aqueous phase chemical processes to remove aqueous ammonia from waste process streams. Ammonia is generated in both the current Hanford waste flowsheet and in future waste processing. Much ammonia will be generated in the Low Activity Waste (LAW) melters.i Testing with simulants in glass melters at Catholic University has demonstrated the significant ammonia production.ii The primary reaction there is the reducing action of sugar on nitrate in the melter cold cap. Ammonia has been found to be a problem in secondary waste stabilization. Ammonia vapors are noxious and destruction of ammonia could reduce hazards to waste treatment process personnel. It is easily evolved especially when ammonia-bearing solutions are adjusted to high pH.

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

    Directory of Open Access Journals (Sweden)

    Serena Oliveri


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

  2. Health Orientation, Knowledge, and Attitudes toward Genetic Testing and Personalized Genomic Services: Preliminary Data from an Italian Sample (United States)

    Arnaboldi, Paola; Cutica, Ilaria; Fioretti, Chiara


    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

  3. Impact of presymptomatic genetic testing on young adults: a systematic review. (United States)

    Godino, Lea; Turchetti, Daniela; Jackson, Leigh; Hennessy, Catherine; Skirton, Heather


    Presymptomatic and predictive genetic testing should involve a considered choice, which is particularly true when testing is undertaken in early adulthood. Young adults are at a key life stage as they may be developing a career, forming partnerships and potentially becoming parents: presymptomatic testing may affect many facets of their future lives. The aim of this integrative systematic review was to assess factors that influence young adults' or adolescents' choices to have a presymptomatic genetic test and the emotional impact of those choices. Peer-reviewed papers published between January 1993 and December 2014 were searched using eight databases. Of 3373 studies identified, 29 were reviewed in full text: 11 met the inclusion criteria. Thematic analysis was used to identify five major themes: period before testing, experience of genetic counselling, parental involvement in decision-making, impact of test result communication, and living with genetic risk. Many participants grew up with little or no information concerning their genetic risk. The experience of genetic counselling was either reported as an opportunity for discussing problems or associated with feelings of disempowerment. Emotional outcomes of disclosure did not directly correlate with test results: some mutation carriers were relieved to know their status, however, the knowledge they may have passed on the mutation to their children was a common concern. Parents appeared to have exerted pressure on their children during the decision-making process about testing and risk reduction surgery. Health professionals should take into account all these issues to effectively assist young adults in making decisions about presymptomatic genetic testing.

  4. Genetic testing in nephrotic syndrome--challenges and opportunities. (United States)

    Gbadegesin, Rasheed A; Winn, Michelle P; Smoyer, William E


    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.

  5. Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement (United States)

    Webborn, Nick; Williams, Alun; McNamee, Mike; Bouchard, Claude; Pitsiladis, Yannis; Ahmetov, Ildus; Ashley, Euan; Byrne, Nuala; Camporesi, Silvia; Collins, Malcolm; Dijkstra, Paul; Eynon, Nir; Fuku, Noriyuki; Garton, Fleur C; Hoppe, Nils; Holm, Søren; Kaye, Jane; Klissouras, Vassilis; Lucia, Alejandro; Maase, Kamiel; Moran, Colin; North, Kathryn N; Pigozzi, Fabio; Wang, Guan


    The general consensus among sport and exercise genetics researchers is that genetic tests have no role to play in talent identification or the individualised prescription of training to maximise performance. Despite the lack of evidence, recent years have witnessed the rise of an emerging market of direct-to-consumer marketing (DTC) tests that claim to be able to identify children's athletic talents. Targeted consumers include mainly coaches and parents. There is concern among the scientific community that the current level of knowledge is being misrepresented for commercial purposes. There remains a lack of universally accepted guidelines and legislation for DTC testing in relation to all forms of genetic testing and not just for talent identification. There is concern over the lack of clarity of information over which specific genes or variants are being tested and the almost universal lack of appropriate genetic counselling for the interpretation of the genetic data to consumers. Furthermore independent studies have identified issues relating to quality control by DTC laboratories with different results being reported from samples from the same individual. Consequently, in the current state of knowledge, no child or young athlete should be exposed to DTC genetic testing to define or alter training or for talent identification aimed at selecting gifted children or adolescents. Large scale collaborative projects, may help to develop a stronger scientific foundation on these issues in the future. PMID:26582191

  6. Panoramic night vision goggle flight test results (United States)

    Franck, Douglas L.; Geiselman, Eric E.; Craig, Jeffrey L.


    The Panoramic Night Vision Goggle (PNVG) has begun operational test and evaluation with its 100-degree horizontal by 40-degree vertical field of view (FOV) on different aircraft and at different locations. Two configurations of the PNVG are being evaluated. The first configuration design (PNVG I) is very low in profile and fits underneath a visor. PNVG I can be retained by the pilot during ejection. This configuration is interchangeable with a day helmet mounted tracker and display through a standard universal connector. The second configuration (PNVG II) resembles the currently fielded 40-degree circular FOV Aviator Night Vision Imaging Systems (ANVIS) and is designed for non-ejection seat aircraft and ground applications. Pilots completed subjective questionnaires after each flight to compare the capability of the 100-degree horizontal by 40-degree vertical PNVG to the 40-degree circular ANVIS across different operational tasks. This paper discusses current findings and pilot feedback from the flight trials objectives of the next phase of the PNVG program are also discussed.

  7. Results from DR and Instrumentation Test Facilities

    CERN Document Server

    Urakawa, Junji


    The KEK Accelerator Test Facility (ATF) is a 1.3GeV storage ring capable of producing ultra-low emittance electron beams and has a beam extraction line for ILC R&D. The ATF has proven to be an ideal place for researches with small, stable beams. 2x1010 single bunch and low current 20 bunch-train with 2.8nsec bunch spacing have been extracted to develop Nano-Cavity BPM’s, FONT, Nano Beam Orbit handling (FEATHER), Optical Diffraction Radiation (ODR) monitor, a precision multi-bunch laser-based beam profile monitor and polarized positron beam generation via backward-Compton scattering by the international collaboration. A set of three cavity BPM's is installed in the ATF extraction line on a set of extremely stiff supports. The KEK group installed another set of three BPM's, with their own support mechanism. The full set of 6 will prove extremely useful. In the DR (Damping Ring), we are researching the fast ion instability, micro-wave instability with four sets of damping wiggler and developing pul...

  8. Genetic citizenship: DNA testing and the Israeli Law of Return. (United States)

    McGonigle, Ian V; Herman, Lauren W


    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.

  9. 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


    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.

  10. Cost sharing and hereditary cancer risk: predictors of willingness-to-pay for genetic testing. (United States)

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


    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.

  11. Motivating factors for physician ordering of Factor V Leiden genetic tests (United States)

    Hindorff, Lucia A.; Burke, Wylie; Laberge, Anne-Marie; Rice, Kenneth M.; Lumley, Thomas; Leppig, Kathleen; Rosendaal, Frits R.; Larson, Eric B.; Psaty, Bruce M.


    Background The Factor V Leiden (FVL) genetic test is used by many physicians despite its uncertain clinical utility. This study investigated whether self-reported motivations and behaviors concerning FVL genetic testing differed between two groups of primary care physicians defined by frequency of prior FVL test use. Methods In January 2007, 112 primary care physicians (60 frequent, 52 infrequent FVL test users) at Group Health, a large health care delivery system, were surveyed. Survey content areas included: primary reasons and motivating factors for ordering FVL; likelihood of ordering FVL for hypothetical patients; potential barriers to genetic testing, and practices and skills regarding FVL test ordering. Results Responses between groups agreed concerning most clinical- or patient-related factors. Frequent-FVL physicians were more likely than infrequent-FVL physicians to report ordering FVL for hypothetical patients with mesenteric venous thrombosis (adjusted OR 4.57, 95% CI 1.55, 13.53) or venous thrombosis following hospital discharge (adjusted OR 3.42, 95% CI 1.30, 8.95). Frequent-FVL physicians were also less likely to agree with several potential barriers to genetic testing and more likely to report high confidence in interpreting and explaining FVL test results. Conclusions Generally, both groups of physicians reported similar motivating factors for ordering FVL, and reported behaviors were consistent with existing guidelines. More striking differences were observed for measures such as barriers to and confidence in using genetic tests. Though additional research is necessary to evaluate their impact, these results inform several knowledge-to-practice translation issues that are important to the successful integration of genetic testing into primary care. PMID:19139326

  12. Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: The patients' perspective

    NARCIS (Netherlands)

    Christiaans, Imke; Van Langen, Irene M.; Birnie, Erwin; Bonsel, Gouke J.; Wilde, Arthur A. M.; Smets, Ellen M. A.


    Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease associated with sudden cardiac death. Predictive genetic counseling and testing are performed using adapted Huntington guidelines, that is, psychosocial care and time for reflection are not obligatory and the test result can be d

  13. Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: The patients' perspective

    NARCIS (Netherlands)

    Christiaans, Imke; Van Langen, Irene M.; Birnie, Erwin; Bonsel, Gouke J.; Wilde, Arthur A. M.; Smets, Ellen M. A.


    Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease associated with sudden cardiac death. Predictive genetic counseling and testing are performed using adapted Huntington guidelines, that is, psychosocial care and time for reflection are not obligatory and the test result can be

  14. Uncertainty in in-place filter test results

    Energy Technology Data Exchange (ETDEWEB)

    Scripsick, R.C.; Beckman, R.J.; Mokler, B.V.


    Some benefits of accounting for uncertainty in in-place filter test results are explored. Information the test results provide relative to system performance acceptance limits is evaluated in terms of test result uncertainty. An expression for test result uncertainty is used to estimate uncertainty in in-place filter tests on an example air cleaning system. Modifications to the system test geometry are evaluated in terms of effects on test result uncertainty.

  15. Genetic Variation A mong European Lophodermium piceae Populations - Preliminary Results

    Directory of Open Access Journals (Sweden)

    MÜLLER, Michael M.


    Full Text Available Lophodermium piceae is a common needle endophyte of Norway spruce (Picea abies. The aim of the present study was to examine the degree of differentiation within and among European populations separated by various distances and geographical obstacles. For this purpose, populations (including > 10 isolates/subpopulation were collected along a north-south transect stretching from the northern timberline in Finnish Lapland to the southern border of the distribution area of Norway spruce in northern Italy. Differentiation between L. piceae populations was determined from DNA sequences of three genetic markers. One of the markers was the internal transcribed spacer (ITS of the ribosomal DNA and the other two (LP1 and LP2 were based on sequence characterized amplified regions (SCAR designed for L. piceae. Preliminary results including sequences of Finnish, Swiss and Italian isolates show low differentiation among populations. According to analysis of molecular variance the among population variation was 1%, 5% and 0% in ITS, LP1 and LP2 markers, respectively.

  16. Factors Motivating Individuals to Consider Genetic Testing for Type 2 Diabetes Risk Prediction.

    Directory of Open Access Journals (Sweden)

    Jennifer Wessel

    Full Text Available The purpose of this study was to identify attitudes and perceptions of willingness to participate in genetic testing for type 2 diabetes (T2D risk prediction in the general population. Adults (n = 598 were surveyed on attitudes about utilizing genetic testing to predict future risk of T2D. Participants were recruited from public libraries (53%, online registry (37% and a safety net hospital emergency department (10%. Respondents were 37 ± 11 years old, primarily White (54%, female (69%, college educated (46%, with an annual income ≥$25,000 (56%. Half of participants were interested in genetic testing for T2D (52% and 81% agreed/strongly agreed genetic testing should be available to the public. Only 57% of individuals knew T2D is preventable. A multivariate model to predict interest in genetic testing was adjusted for age, gender, recruitment location and BMI; significant predictors were motivation (high perceived personal risk of T2D [OR = 4.38 (1.76, 10.9]; family history [OR = 2.56 (1.46, 4.48]; desire to know risk prior to disease onset [OR = 3.25 (1.94, 5.42]; and knowing T2D is preventable [OR = 2.11 (1.24, 3.60], intention (if the cost is free [OR = 10.2 (4.27, 24.6]; and learning T2D is preventable [OR = 5.18 (1.95, 13.7] and trust of genetic testing results [OR = 0.03 (0.003, 0.30]. Individuals are interested in genetic testing for T2D risk which offers unique information that is personalized. Financial accessibility, validity of the test and availability of diabetes prevention programs were identified as predictors of interest in T2D testing.

  17. Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life. (United States)

    Ingles, Jodie; Yeates, Laura; O'Brien, Lisa; McGaughran, Julie; Scuffham, Paul A; Atherton, John; Semsarian, Christopher


    Purpose:A genetic diagnosis is an extremely useful tool in the management and care of families with inherited heart diseases, particularly in allowing clarification of risk status of asymptomatic family members. The psychosocial consequences of genetic testing in this group are poorly understood. This longitudinal pilot study sought to determine changes in health-related quality of life in patients and asymptomatic family members undergoing genetic testing for inherited heart diseases.Methods:Individuals attending two specialized multidisciplinary cardiac genetic clinics in Australia were invited to participate. Patients undergoing proband or predictive genetic testing for an inherited cardiomyopathy or primary arrhythmogenic disorder were eligible. The Medical Outcomes Short Form-36 (version 2) was administered before the genetic result was given, and follow-up surveys were completed 1-3, 6, and 12 months after the result was given.Results:A total of 54 individuals with hypertrophic cardiomyopathy, familial dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, and long QT syndrome completed baseline and at least one follow-up survey, including 33 probands and 21 asymptomatic relatives. Physical and mental component scores analyzed at baseline and 1-3 months were found to be unchanged in all groups. Furthermore, no significant differences were observed up to 12 months after result.Conclusion:In this longitudinal pilot study, no change in health-related quality of life was observed up to 12 months after the result was given in patients and their asymptomatic family members undergoing genetic testing for an inherited heart disease.Genet Med 2012 advance online publication 3 May 2012.

  18. High acceptance of an early dyslexia screening test involving genetic analyses in Germany. (United States)

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


    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.

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


    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

  20. 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

  1. Integrated patient and tumor genetic testing for individualized cancer therapy. (United States)

    Hertz, D L; McLeod, H L


    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.

  2. BRCA mutation genetic testing implications in the United States. (United States)

    Bayraktar, Soley; Arun, Banu


    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.

  3. 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. (United States)

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


    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.

  4. American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (United States)


    As the leading organization representing cancer specialists involved in patient care and clinical research, the American Society of Clinical Oncology (ASCO) reaffirms its commitment to integrating cancer risk assessment and management, including molecular analysis of cancer predisposition genes, into the practice of oncology and preventive medicine. The primary goal of this effort is to foster expanded access to, and continued advances in, medical care provided to patients and families affected by hereditary cancer syndromes. The 1996 ASCO Statement on Genetic Testing for Cancer Susceptibility set forth specific recommendations relating to clinical practice, research needs, educational opportunities, requirement for informed consent, indications for genetic testing, regulation of laboratories, and protection from discrimination, as well as access to and reimbursement for cancer genetics services. In updating this Statement, ASCO endorses the following principles: Indications for Genetic Testing: ASCO recommends that genetic testing be offered when 1) the individual has personal or family history features suggestive of a genetic cancer susceptibility condition, 2) the test can be adequately interpreted, and 3) the results will aid in diagnosis or influence the medical or surgical management of the patient or family members at hereditary risk of cancer. ASCO recommends that genetic testing only be done in the setting of pre- and post-test counseling, which should include discussion of possible risks and benefits of cancer early detection and prevention modalities. Special Issues in Testing Children for Cancer Susceptibility: ASCO recommends that the decision to offer testing to potentially affected children should take into account the availability of evidence-based risk-reduction strategies and the probability of developing a malignancy during childhood. Where risk-reduction strategies are available or cancer predominantly develops in childhood, ASCO believes that

  5. Organizational Benchmarks for Test Utilization Performance: An Example Based on Positivity Rates for Genetic Tests. (United States)

    Rudolf, Joseph; Jackson, Brian R; Wilson, Andrew R; Smock, Kristi J; Schmidt, Robert L


    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.

  6. Cost-effectiveness of MODY genetic testing: translating genomic advances into practical health applications. (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


    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.

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

    Directory of Open Access Journals (Sweden)

    Ruthie Su


    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.

  8. Will Genetic Testing for Complex Diseases Increase Motivation to Quit Smoking? Anticipated Reactions in a Survey of Smokers (United States)

    Sanderson, Saskia C.; Wardle, Jane


    The aim of this study was to improve understanding of smokers' potential reactions to genetic testing for smoking-related diseases. One thousand twenty-four respondents completed a postal survey; 186 were smokers. Questions addressed anticipated psychological and behavioral reactions to genetic test results using hypothetical scenarios. Of…

  9. Will Genetic Testing for Complex Diseases Increase Motivation to Quit Smoking? Anticipated Reactions in a Survey of Smokers (United States)

    Sanderson, Saskia C.; Wardle, Jane


    The aim of this study was to improve understanding of smokers' potential reactions to genetic testing for smoking-related diseases. One thousand twenty-four respondents completed a postal survey; 186 were smokers. Questions addressed anticipated psychological and behavioral reactions to genetic test results using hypothetical scenarios. Of…

  10. A heterogeneity test for fine-scale genetic structure. (United States)

    Smouse, Peter E; Peakall, Rod; Gonzales, Eva


    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.

  11. Using Workflow Modeling to Identify Areas to Improve Genetic Test Processes in the University of Maryland Translational Pharmacogenomics Project. (United States)

    Cutting, Elizabeth M; Overby, Casey L; Banchero, Meghan; Pollin, Toni; Kelemen, Mark; Shuldiner, Alan R; Beitelshees, Amber L

    Delivering genetic test results to clinicians is a complex process. It involves many actors and multiple steps, requiring all of these to work together in order to create an optimal course of treatment for the patient. We used information gained from focus groups in order to illustrate the current process of delivering genetic test results to clinicians. We propose a business process model and notation (BPMN) representation of this process for a Translational Pharmacogenomics Project being implemented at the University of Maryland Medical Center, so that personalized medicine program implementers can identify areas to improve genetic testing processes. We found that the current process could be improved to reduce input errors, better inform and notify clinicians about the implications of certain genetic tests, and make results more easily understood. We demonstrate our use of BPMN to improve this important clinical process for CYP2C19 genetic testing in patients undergoing invasive treatment of coronary heart disease.

  12. Knowledge, attitudes and preferences regarding genetic testing for smoking cessation. A cross-sectional survey among Dutch smokers (United States)

    Smerecnik, Chris; van Schooten, Frederik J; de Vries, Hein; van Schayck, Constant P


    Objectives Recent research strongly suggests that genetic variation influences smokers' ability to stop. Therefore, the use of (pharmaco) genetic testing may increase cessation rates. This study aims to assess the intention of smokers concerning undergoing genetic testing for smoking cessation and their knowledge, attitudes and preferences about this subject. Design Online cross-sectional survey. Setting Database internet research company of which every inhabitant of the Netherlands of ≥12 years with an email address and capable of understanding Dutch can become a member. Participants 587 of 711 Dutch smokers aged ≥18 years, daily smokers for ≥5 years and smoke on average ≥10 cigarettes/day (response rate=83%). Primary and secondary outcome measures Smokers' knowledge, attitudes and preferences and their intention to undergo genetic testing for smoking cessation. Results Knowledge on the influence of genetic factors in smoking addiction and cessation was found to be low. Smokers underestimated their chances of having a genetic predisposition and the influence of this on smoking cessation. Participants perceived few disadvantages, some advantages and showed moderate self-efficacy towards undergoing a genetic test and dealing with the results. Smokers were mildly interested in receiving information and participating in genetic testing, especially when offered by their general practitioner (GP). Conclusions For successful implementation of genetic testing for smoking in general practice, several issues should be addressed, such as the knowledge on smoking cessation, genetics and genetic testing (including advantages and disadvantages) and the influence of genetics on smoking addiction and cessation. Furthermore, smokers allocate their GPs a crucial role in the provision of information and the delivery of a genetic test for smoking; however, it is unclear whether GPs will be able and willing to take on this role. PMID:22223839

  13. Interpreting Behavioral Genetic Results: Suggestions for Counselors and Clients. (United States)

    Gatz, Margaret


    Contends treatment strategies often are premised on modifying either environmental factors or clients' interpretations of the interpersonal environment, but a more complete analysis would take into account the role played by genetic transmission in an individual's personality. Recommends when developing interventions both counselors and clients…

  14. BRCA1/2 genetic testing uptake and psychosocial outcomes in men. (United States)

    Graves, Kristi D; Gatammah, Rhoda; Peshkin, Beth N; Krieger, Ayelet; Gell, Christy; Valdimarsdottir, Heiddis B; Schwartz, Marc D


    Few studies have quantitatively evaluated the uptake and outcomes of BRCA1/2 genetic counseling and testing in men. We conducted a prospective longitudinal study to describe and compare uptake of and psychosocial outcomes following BRCA1/2 testing in a sample of men and women at high-risk for carrying a BRCA1/2 mutation. Men (n = 98) and women (n = 243) unaffected with cancer completed baseline assessments prior to genetic counseling and testing and then 6- and 12-months post-testing. Most men (n = 94; 95.9%) opted to have genetic testing, of whom 44 received positive BRCA1/2 genetic test results and 50 received true negative results. Among women, 93.4% had genetic testing, of whom 79 received positive results and 148 received negative results. In multivariate models, male BRCA1/2 carriers reported significantly higher genetic testing distress (6-months: Z = 4.48, P < 0.0001; 12-months: Z = 2.78, P < 0.01) than male non-carriers. After controlling for baseline levels of distress, no statistically significant differences emerged between male and female BRCA1/2 carriers in psychological distress at 12-months post-testing, although absolute differences were evident over time. Predictors of distress related to genetic testing among male carriers at 12-months included higher baseline cancer-specific distress (Z = 4.73, P < 0.0001) and being unmarried (Z = 2.18, P < 0.05). Similarly, baseline cancer-specific distress was independently associated with cancer-specific distress at 6- (Z = 3.66, P < 0.001) and 12-months (Z = 4.44, P < 0.0001) post-testing among male carriers. Clinically, our results suggest that pre-test assessment of distress and creation of educational materials specifically tailored to the needs and concerns of male carriers may be appropriate in this important but understudied high-risk group.

  15. Results of the 2015 Relationship Testing Workshop of the English Speaking Working Group

    DEFF Research Database (Denmark)

    Friis, Susanne Lunøe; Hallenberg, Charlotte; Simonsen, Bo Thisted


    Annually, members of the English Speaking Working Group of the International Society for Forensic Genetics are invited to participate in a Relationship Testing Workshop. In 2015, 64 laboratories participated. Here, we present the results from the 2015 workshop, which included relationship testing...

  16. Lay responses to health messages about the genetic risk factors for salt sensitivity: do mass media genetic health messages result in genetic determinism? (United States)

    Smerecnik, Chris M R


    Media coverage of genetics may lead to overestimation of the impact of genetics on disease development. In this study, we presented one student sample and one general public sample from the Netherlands with a general or a genetic health message (HM) about salt sensitivity. After reading the genetic (but not the general) HM, participants reported higher perceived impact of genetic versus lifestyle factors and a higher attributable fraction of genetics on disease development. Nevertheless, participants were able to recognise the balance between lifestyle and genetic risk factors in disease development. They also contextualised and restricted the message's implications to the specific information provided, and did not extrapolate these implications to other diseases. These results illustrate the nuanced understanding the general public may have concerning genetic risk factors.

  17. Points to consider for prioritizing clinical genetic testing services

    DEFF Research Database (Denmark)

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


    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...

  18. 77 FR 3748 - Request for Comments and Notice of Public Hearings on Genetic Diagnostic Testing (United States)


    ... in gathering information on the genetic diagnostic testing for purposes of preparing a report on the... testing. Public Hearings: The USPTO will hold two public hearings in support of the genetic testing study... ``Genetic Testing Study.'' Because written comments and testimony will be made available for...

  19. Integrating social science and behavioral genetics: testing the origin of socioeconomic disparities in depression using a genetically informed design. (United States)

    Mezuk, Briana; Myers, John M; Kendler, Kenneth S


    We tested 3 hypotheses-social causation, social drift, and common cause-regarding the origin of socioeconomic disparities in major depression and determined whether the relationship between socioeconomic status (SES) and major depression varied by genetic liability for major depression. Data were from a sample of female twins in the baseline Virginia Adult Twin Study of Psychiatric and Substance Use Disorders interviewed between 1987 and 1989 (n = 2153). We used logistic regression and structural equation twin models to evaluate these 3 hypotheses. Consistent with the social causation hypothesis, education (odds ratio [OR] = 0.78; 95% confidence interval [CI] = 0.66, 0.93; P social mobility was associated with lower risk of depression. There was no evidence that childhood SES was related to development of major depression (OR = 0.98; 95% CI = 0.89, 1.09; P > .1). Consistent with a common genetic cause, there was a negative correlation between the genetic components of major depression and education (r(2) = -0.22). Co-twin control analyses indicated a protective effect of education and income on major depression even after accounting for genetic liability. This study utilized a genetically informed design to address how social position relates to major depression. Results generally supported the social causation model.

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

    Directory of Open Access Journals (Sweden)

    Klajn-Tatić Vesna


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

  1. Karyotype versus microarray testing for genetic abnormalities after stillbirth. (United States)

    Reddy, Uma M; Page, Grier P; Saade, George R; Silver, Robert M; Thorsten, Vanessa R; Parker, Corette B; Pinar, Halit; Willinger, Marian; Stoll, Barbara J; Heim-Hall, Josefine; Varner, Michael W; Goldenberg, Robert L; Bukowski, Radek; Wapner, Ronald J; Drews-Botsch, Carolyn D; O'Brien, Barbara M; Dudley, Donald J; Levy, Brynn


    Genetic abnormalities have been associated with 6 to 13% of stillbirths, but the true prevalence may be higher. Unlike karyotype analysis, microarray analysis does not require live cells, and it detects small deletions and duplications called copy-number variants. The Stillbirth Collaborative Research Network conducted a population-based study of stillbirth in five geographic catchment areas. Standardized postmortem examinations and karyotype analyses were performed. A single-nucleotide polymorphism array was used to detect copy-number variants of at least 500 kb in placental or fetal tissue. Variants that were not identified in any of three databases of apparently unaffected persons were then classified into three groups: probably benign, clinical significance unknown, or pathogenic. We compared the results of karyotype and microarray analyses of samples obtained after delivery. In our analysis of samples from 532 stillbirths, microarray analysis yielded results more often than did karyotype analysis (87.4% vs. 70.5%, P<0.001) and provided better detection of genetic abnormalities (aneuploidy or pathogenic copy-number variants, 8.3% vs. 5.8%; P=0.007). Microarray analysis also identified more genetic abnormalities among 443 antepartum stillbirths (8.8% vs. 6.5%, P=0.02) and 67 stillbirths with congenital anomalies (29.9% vs. 19.4%, P=0.008). As compared with karyotype analysis, microarray analysis provided a relative increase in the diagnosis of genetic abnormalities of 41.9% in all stillbirths, 34.5% in antepartum stillbirths, and 53.8% in stillbirths with anomalies. Microarray analysis is more likely than karyotype analysis to provide a genetic diagnosis, primarily because of its success with nonviable tissue, and is especially valuable in analyses of stillbirths with congenital anomalies or in cases in which karyotype results cannot be obtained. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development.).

  2. Are indirect genetic benefits associated with polyandry? Testing predictions in a natural population of lemon sharks. (United States)

    DiBattista, Joseph D; Feldheim, Kevin A; Gruber, Samuel H; Hendry, Andrew P


    Multiple mating has clear fitness benefits for males, but uncertain benefits and costs for females. We tested for indirect genetic benefits of polyandry in a natural population, by using data from a long-term genetic and demographic study of lemon sharks (Negaprion brevirostris) at Bimini, Bahamas. To do so, we followed the fates of individuals from six cohorts (450 age-0 and 254 age-1 fish) in relation to their individual level of genetic variation, and whether they were from polyandrous or monoandrous litters. We find that offspring from polyandrous litters did not have a greater genetic diversity or greater survival than did the offspring of monoandrous litters. We also find no evidence of positive associations between individual offspring genetic diversity metrics and our surrogate measure of fitness (i.e. survival). In fact, age-1 individuals with fewer heterozygous microsatellite loci and more genetically similar parents were more likely to survive to age-2. Thus, polyandry in female lemon sharks does not appear to be adaptive from the perspective of indirect genetic benefits to offspring. It may instead be the result of convenience polyandry, whereby females mate multiply to avoid harassment by males. Our inability to find indirect genetic benefits of polyandry despite detailed pedigree and survival information suggests the need for similar assessments in other natural populations.

  3. A systematic review of perceived risks, psychological and behavioral impacts of genetic testing. (United States)

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


    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.

  4. Genetically determined patozoospermia. Literature review and research results

    Directory of Open Access Journals (Sweden)

    E. E. Bragina


    Full Text Available Genetic factors (chromosomal aberrations and point mutations are the cause of infertility in 10–15 % of men with impaired fertility. Homogeneous structural and functional defects in the sperm or the total terato-, asthenozoospermia – rare cases of genetically determined male infertility, are autosomal recessive diseases. Currently, described 4 types of «syndromic» spermopatology. 1. Primary ciliary dyskinesia (PCD in men with total asthenozoospermia. Affects axoneme structures (microtubules, dynein arms, radial spokes. It identified more than 20 chromosomal loci responsible for the development of the PCD. 2. Dysplasia of the fibrous sheath of sperm tail in men with asthenozoospermia. The shortened and thickened sperm tail observed with disorganization of vertical columns and cross ribs of the fibrous sheath. Candidate genes – genes family ACAP. 3. Globozoospermia in men with teratozoospermia characterized by the presence of sperm with round heads, primary lack of acrosome and disorganization middle part of the flagellum. Found mutations or deletions of genes SPATA16, PICK1 and DPY19L2. 4. Syndrome decapitated spermatozoa in men with teratozoospermia (microcephaly. Abnormalities in the spermiogenesis development of connecting part jf the tail and proximal (morphologically normal centrioles.In 2012–2014 years we have studied the ultrastructure of 2267 semen samples of men with impaired fertility. Globozoospermia revealed in 7 patients, dysplasia of the fibrous sheath – 13, decapitated sperm – in one. PCD was revealed in 4 patients (lack of axoneme dynein arms was found in 1 patient, absence of axoneme radial spokes – in 3 patients.The problem of genetically determined patozoospermya must be taken into account when the assisted reproductive technologies practises. There are few cases of successful assisted reproductive technologies with sperm of these patients. We don»t know the etiological factors of syndromic spermopatologe, so

  5. Engagement with Genetic Information and Uptake of Genetic Testing: the Role of Trust and Personal Cancer History. (United States)

    Roberts, Megan C; Taber, Jennifer M; Klein, William M


    We used national survey data to (1) determine the extent to which individuals trust the sources from which they are most likely to receive information about cancer-related genetic tests (BRCA1/2, Lynch syndrome), (2) examine how level of trust for sources of genetic information might be related to cancer-related genetic testing uptake, and (3) determine whether key factors, such as cancer history and numeracy, moderate the latter association. We used cross-sectional data from the Health Information National Trends Survey. Our study sample included individuals who responded that they had heard or read about genetic tests (n = 1117). All analyses accounted for complex survey design. Although respondents trusted information from health professionals the most, they were significantly less likely to report hearing about genetic testing from such professionals than via television (p information source from which participants heard about genetic tests were associated with increased odds of genetic testing uptake, particularly among those with a personal cancer history. Numeracy was not associated with genetic testing uptake. Because health professionals were among the most trusted health information sources, they may serve as important brokers of genetic testing information for those with a personal cancer history.

  6. Attitudes about Future Genetic Testing for Posttraumatic Stress Disorder and Addiction among Community-Based Veterans. (United States)

    Lent, Michelle R; Hoffman, Stuart N; Kirchner, H Lester; Urosevich, Thomas G; Boscarino, Joseph J; Boscarino, Joseph A


    This study explored attitudes toward hypothetical genetic testing for posttraumatic stress disorder (PTSD) and addiction among veterans. We surveyed a random sample of community-based veterans (n = 700) by telephone. One year later, we asked the veterans to provide a DNA sample for analysis and 41.9% of them returned the DNA samples. Overall, most veterans were not interested in genetic testing neither for PTSD (61.7%) nor for addiction (68.7%). However, bivariate analyses suggested there was an association between having the condition of interest and the likelihood of genetic testing on a 5-point scale (p < 0.001 for PTSD; p = 0.001 for alcohol dependence). While ordinal regressions confirmed these associations, the models with the best statistical fit were bivariate models of whether the veteran would likely test or not. Using logistic regressions, significant predictors for PTSD testing were receiving recent mental health treatment, history of a concussion, younger age, having PTSD, having alcohol dependence, currently taking opioids for pain, and returning the DNA sample during the follow-up. For addiction testing, significant predictors were history of concussion, younger age, psychotropic medication use, having alcohol dependence, and currently taking opioids for pain. Altogether, 25.9% of veterans reported that they would have liked to have known their genetic results before deployment, 15.6% reported after deployment, and 58.6% reported they did not want to know neither before nor after deployment. As advancements in genetic testing continue to evolve, our study suggests that consumer attitudes toward genetic testing for mental disorders are complex and better understanding of these attitudes and beliefs will be crucial to successfully promote utilization.

  7. Attitudes about Future Genetic Testing for Posttraumatic Stress Disorder and Addiction among Community-Based Veterans

    Directory of Open Access Journals (Sweden)

    Michelle R. Lent


    Full Text Available This study explored attitudes toward hypothetical genetic testing for posttraumatic stress disorder (PTSD and addiction among veterans. We surveyed a random sample of community-based veterans (n = 700 by telephone. One year later, we asked the veterans to provide a DNA sample for analysis and 41.9% of them returned the DNA samples. Overall, most veterans were not interested in genetic testing neither for PTSD (61.7% nor for addiction (68.7%. However, bivariate analyses suggested there was an association between having the condition of interest and the likelihood of genetic testing on a 5-point scale (p < 0.001 for PTSD; p = 0.001 for alcohol dependence. While ordinal regressions confirmed these associations, the models with the best statistical fit were bivariate models of whether the veteran would likely test or not. Using logistic regressions, significant predictors for PTSD testing were receiving recent mental health treatment, history of a concussion, younger age, having PTSD, having alcohol dependence, currently taking opioids for pain, and returning the DNA sample during the follow-up. For addiction testing, significant predictors were history of concussion, younger age, psychotropic medication use, having alcohol dependence, and currently taking opioids for pain. Altogether, 25.9% of veterans reported that they would have liked to have known their genetic results before deployment, 15.6% reported after deployment, and 58.6% reported they did not want to know neither before nor after deployment. As advancements in genetic testing continue to evolve, our study suggests that consumer attitudes toward genetic testing for mental disorders are complex and better understanding of these attitudes and beliefs will be crucial to successfully promote utilization.

  8. Paternity Testing Commission of the International Society of Forensic Genetics: recommendations on genetic investigations in paternity cases. (United States)

    Morling, Niels; Allen, Robert W; Carracedo, Angel; Geada, Helena; Guidet, Francois; Hallenberg, Charlotte; Martin, Wolfgang; Mayr, Wolfgang R; Olaisen, Bjørnar; Pascali, Vince L; Schneider, Peter M


    The International Society for Forensic Genetics (ISFG) has established a Paternity Testing Commission (PTC) with the purpose of formulating international recommendations concerning genetic investigations in paternity testing. The PTC recommends that paternity testing be performed in accordance with the ISO 17025 standards. The ISO 17025 standards are general standards for testing laboratories and the PTC offers explanations and recommendations concerning selected areas of special importance to paternity testing.

  9. Paternity Testing Commission of the International Society of Forensic Genetics: recommendations on genetic investigations in paternity cases

    DEFF Research Database (Denmark)

    Morling, Niels; Allen, Robert W; Carracedo, Angel


    The International Society for Forensic Genetics (ISFG) has established a Paternity Testing Commission (PTC) with the purpose of formulating international recommendations concerning genetic investigations in paternity testing. The PTC recommends that paternity testing be performed in accordance wi...... with the ISO 17025 standards. The ISO 17025 standards are general standards for testing laboratories and the PTC offers explanations and recommendations concerning selected areas of special importance to paternity testing....

  10. Primary care physicians' concerns about offering a genetic test to tailor smoking cessation treatment. (United States)

    Levy, Douglas E; Youatt, Emily J; Shields, Alexandra E


    We assessed the importance assigned by primary care physicians to eight factors influencing whether they would order a genetic test to individually tailor smoking cessation treatment. A random sample of United States primary care physicians was surveyed about how important each of eight factors were in the decision to order the test. Broadly, these factors included the ability of the test to improve treatment, the patient's reaction to test results, concern about misuse of test results, and the ability of the physician's office to manage informed consent for the test. Physicians indicated the most important factor they would consider in ordering a genetic test to tailor smoking cessation treatment was the ability to improve cessation outcomes. However, when told the genotype identified by the test was associated with stigma-inducing mental health conditions, physicians emphasized the importance of possible racial, insurance, and employment discrimination in their decisions. Primary care physicians are eager to improve smoking cessation treatment, but the collateral information generated by genetic testing to tailor treatment may be an impediment unless proper antidiscrimination measures are in place.

  11. Illusions of scientific legitimacy: misrepresented science in the direct-to-consumer genetic-testing marketplace. (United States)

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


    Marketers of genetic tests often openly or implicitly misrepresent the utility of genetic information. Scientists who are well aware of the current limitations to the utility of such tests are best placed to publicly counter misrepresentations of the science.

  12. Misinterpretation of TPMT by a DTC genetic testing company. (United States)

    Brownstein, C A; Margulies, D M; Manzi, S F


    23andme has suspended marketing of health-related reports due to US Food and Drug Administration approval violations. This has fostered discussions on the actual risks associated with consumer use of these reports. In the case described below, rare genotypes for the gene encoding thiopurine methyltransferase (TPMT) were misinterpreted by a direct-to-consumer (DTC) company, and risk calculations for breast cancer were offered when accuracy was not possible from the available information. Politics aside, these examples illustrate risks associated with DTC genetic testing without professional interpretation.

  13. Experimental test of genetic rescue in isolated populations of brook trout (United States)

    Robinson, Zachary L.; Coombs, Jason A.; Hudy, Mark; Nislow, Keith H.; Letcher, Benjamin H.; Whiteley, Andrew R.


    Genetic rescue is an increasingly considered conservation measure to address genetic erosion associated with habitat loss and fragmentation. The resulting gene flow from facilitating migration may improve fitness and adaptive potential, but is not without risks (e.g., outbreeding depression). Here, we conducted a test of genetic rescue by translocating ten (five of each sex) brook trout (Salvelinus fontinalis) from a single source to four nearby and isolated stream populations. To control for the demographic contribution of translocated individuals, ten resident individuals (five of each sex) were removed from each recipient population. Prior to the introduction of translocated individuals, the two smallest above-barrier populations had substantially lower genetic diversity, and all populations had reduced effective number of breeders relative to adjacent below-barrier populations. In the first reproductive bout following translocation, 31 of 40 (78%) translocated individuals reproduced successfully. Translocated individuals contributed to more families than expected under random mating and generally produced larger full-sibling families. We observed relatively high (>20%) introgression in three of the four recipient populations. The translocations increased genetic diversity of recipient populations by 45% in allelic richness and 25% in expected heterozygosity. Additionally, strong evidence of hybrid vigour was observed through significantly larger body sizes of hybrid offspring relative to resident offspring in all recipient populations. Continued monitoring of these populations will test for negative fitness effects beyond the first generation. However, these results provide much-needed experimental data to inform the potential effectiveness of genetic rescue-motivated translocations.

  14. Ethical and clinical practice considerations for genetic counselors related to direct-to-consumer marketing of genetic tests. (United States)

    Wade, Christopher H; Wilfond, Benjamin S


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

  15. Cost-Effectiveness Analysis of Different Genetic Testing Strategies for Lynch Syndrome in Taiwan. (United States)

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


    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

  16. 49 CFR 199.109 - Review of drug testing results. (United States)


    ... 49 Transportation 3 2010-10-01 2010-10-01 false Review of drug testing results. 199.109 Section... MATERIALS SAFETY ADMINISTRATION, DEPARTMENT OF TRANSPORTATION (CONTINUED) PIPELINE SAFETY DRUG AND ALCOHOL TESTING Drug Testing § 199.109 Review of drug testing results. (a) MRO appointment. Each operator shall...

  17. Public reaction to direct-to-consumer online genetic tests: Comparing attitudes, trust and intentions across commercial and conventional providers. (United States)

    Critchley, Christine; Nicol, Dianne; Otlowski, Margaret; Chalmers, Don


    The success of personalised medicine depends upon the public's embracing genetic tests. Tests that claim to predict an individual's future health can now be accessed via online companies outside of conventional health regulations. This research assessed the extent to which the public embrace direct-to-consumer (DTC) genetic tests relative to those obtained by a conventional medical practitioner (MP). It also examined the reasons for differences across providers using a randomised experimental telephone survey of 1000 Australians. Results suggest that people were significantly less likely to approve of, and order a DTC genetic test administered by a company compared to a MP because they were less trusting of companies' being able to protect their privacy and provide them with access to genetic expertise and counselling. Markets for DTC genetic tests provided by companies would therefore significantly increase if trust in privacy protection and access to expertise are enhanced through regulation.

  18. Perceptions and understanding of genetics and genetic eye disease and attitudes to genetic testing and gene therapy in a primary eye care setting. (United States)

    Ganne, Pratyusha; Garrioch, Robert; Votruba, Marcela


    Genetic eye pathology represents a significant percentage of the causes of blindness in industrialized countries. This study explores the level of understanding and perceptions of genetics and inherited eye diseases and the attitudes to genetic testing and gene therapy. The study was conducted in two parts. Participant groups included were: undergraduate students of optometry, primary eye care professionals and members of the general public. A preliminary study aimed to understand perceptions and to explore the level of knowledge about genetics in general, eye genetics and gene therapy. A second survey was designed to explore attitudes to genetic testing and gene therapy. The majority of participants (82%) perceived genetics as an important science. However, none of them showed a high level of understanding of genetics and inherited eye diseases. Undergraduate students and primary eye care professionals were better informed about inherited eye diseases than the general public (p = 0.001). The majority (80%) across all three groups had a positive attitude to genetic testing and gene therapy. There was a lack of knowledge about the genetic services available among all groups of participants. This calls for serious thinking about the level of dissemination of information about genetics and inherited eye diseases. It shows a broadly supportive attitude to genomic medicine among the public. Improving public awareness and education in inherited eye diseases can improve the utility of genetic testing and therapy.

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

    Miah, Andy; Rich, Emma


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

  20. Maximizing influence in a social network: Improved results using a genetic algorithm (United States)

    Zhang, Kaiqi; Du, Haifeng; Feldman, Marcus W.


    The influence maximization problem focuses on finding a small subset of nodes in a social network that maximizes the spread of influence. While the greedy algorithm and some improvements to it have been applied to solve this problem, the long solution time remains a problem. Stochastic optimization algorithms, such as simulated annealing, are other choices for solving this problem, but they often become trapped in local optima. We propose a genetic algorithm to solve the influence maximization problem. Through multi-population competition, using this algorithm we achieve an optimal result while maintaining diversity of the solution. We tested our method with actual networks, and our genetic algorithm performed slightly worse than the greedy algorithm but better than other algorithms.

  1. False positive test results for pheochromocytoma from 2000 to 2008. (United States)

    Yu, R; Wei, M


    Testing for pheochromocytoma becomes more frequent in clinical practice. False positive test results may cause patient anxiety and unnecessary imaging studies. The data on false positive results for pheochromocytoma in routine clinical practice are lacking. To examine the prevalence of false positive results and to reveal the clinical features and laboratory tests of patients with markedly elevated but false positive test results, a database of tests for pheochromocytoma at a large general hospital between 2000 and 2008 was reviewed. Of 1,896 patients tested, 417 (22.0%) had at least one abnormal test result and 66 (3.5%) had markedly elevated results. 24 patients with markedly elevated but false positive results received 65 imaging studies and 1 adrenalectomy. The causes of the misleading results included physiological variations (33%), laboratory errors (29%), and drug interference with measurement (21%). The false positive rate of a markedly elevated result was lowest for vanillylmandelic acid (9%) and highest for urine metanephrines (50%) (p = 0.03). Nearly half of all test results were normal and 79% of patients had at least one normal result. Therefore false positive test results for pheochromocytoma are rather common. Markedly elevated but false positive test results can potentially be avoided by judicious selection of patients and tests. Pretest risk, physiological variations of catecholamine levels, laboratory errors, and drug interference should be considered in interpreting abnormal test results. © J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York.

  2. Comprehension and Data-Sharing Behavior of Direct-To-Consumer Genetic Test Customers. (United States)

    McGrath, Scott P; Coleman, Jason; Najjar, Lotfollah; Fruhling, Ann; Bastola, Dhundy R


    The aim of this study was to evaluate current direct-to-consumer (DTC) genetic customers' ability to interpret and comprehend test results and to determine if honest brokers are needed. One hundred and twenty-two customers of the DTC genetic testing company 23andMe were polled in an online survey. The subjects were asked about their personal test results and to interpret the results of two mock test cases (type 2 diabetes and multiple sclerosis), where results were translated into disease probability for an individual compared to the public. When asked to evaluate the risk, 72.1% correctly assessed the first case and 77% were correct on the second case. Only 23.8% of those surveyed were able to interpret both cases correctly. x03C7;2 and logistic regression were used to interpret the results. Participants who took the time to read the DTC test-provided supplemental material were 3.93 times (p = 0.040) more likely to correctly interpret the test results than those who did not. The odds for correctly interpreting the test cases were 3.289 times (p = 0.011) higher for those who made more than USD 50,000 than those who made less. Survey results were compared to the Health Information National Trends Survey (HINTS) phase 4 cycle 3 data to evaluate national trends. Most of the subjects were able to correctly interpret the test cases, yet a majority did not share their results with a health-care professional. As the market for DTC genetic testing grows, test comprehension will become more critical. Involving more health professionals in this process may be necessary to ensure proper interpretations. © 2016 S. Karger AG, Basel.

  3. Direct-to-Consumer Genetic Testing and Orphan Drug Development. (United States)

    Mason, Matthew; Levenson, James; Quillin, John


    Since the introduction of the Orphan Drug Act (ODA) in 1983, orphan drug approvals in the United States have jumped from testing companies. This emerging trend is the subject of this article, which begins by considering how rare-disease drugs are regulated and the rising interest in nonclinical genetic testing. It then outlines how DTC companies analyze DNA and how their techniques benefit researchers and drug developers. Then, after an overview of the current partnerships between DTCs and drug developers, it examines concerns about privacy and cost brought up by these partnerships. The article concludes by contrasting the enormous positive potential of DTC-pharma relationships and their concomitant dangers, especially to consumer privacy and cost to the healthcare system.

  4. Sulfonylurea Treatment Before Genetic Testing in Neonatal Diabetes: Pros and Cons (United States)

    Carmody, David; Bell, Charles D.; Hwang, Jessica L.; Dickens, Jazzmyne T.; Sima, Daniela I.; Felipe, Dania L.; Zimmer, Carrie A.; Davis, Ajuah O.; Kotlyarevska, Kateryna; Naylor, Rochelle N.; Philipson, Louis H.


    Context: Diabetes in neonates nearly always has a monogenic etiology. Earlier sulfonylurea therapy can improve glycemic control and potential neurodevelopmental outcomes in children with KCNJ11 or ABCC8 mutations, the most common gene causes. Objective: Assess the risks and benefits of initiating sulfonylurea therapy before genetic testing results become available. Design, Setting, and Patients: Observational retrospective study of subjects with neonatal diabetes within the University of Chicago Monogenic Diabetes Registry. Main Outcome Measures: Response to sulfonylurea (determined by whether insulin could be discontinued) and treatment side effects in those treated empirically. Results: A total of 154 subjects were diagnosed with diabetes before 6 months of age. A genetic diagnosis had been determined in 118 (77%), with 73 (47%) having a mutation in KCNJ11 or ABCC8. The median time from clinical diagnosis to genetic diagnosis was 10.4 weeks (range, 1.6 to 58.2 wk). In nine probands, an empiric sulfonylurea trial was initiated within 28 days of diabetes diagnosis. A genetic cause was subsequently found in eight cases, and insulin was discontinued within 14 days of sulfonylurea initiation in all of these cases. Conclusions: Sulfonylurea therapy appears to be safe and often successful in neonatal diabetes patients before genetic testing results are available; however, larger numbers of cases must be studied. Given the potential beneficial effect on neurodevelopmental outcome, glycemic control, and the current barriers to expeditious acquisition of genetic testing, an empiric inpatient trial of sulfonylurea can be considered. However, obtaining a genetic diagnosis remains imperative to inform long-term management and prognosis. PMID:25238204

  5. Non-genetic health professionals' attitude towards, knowledge of and skills in discussing and ordering genetic testing for hereditary cancer. (United States)

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


    Non-genetic health professionals (NGHPs) have insufficient knowledge of cancer genetics, express educational needs and are unprepared to counsel their patients regarding their genetic test results. So far, it is unclear how NGHPs perceive their own communication skills. This study was undertaken to gain insight in their perceptions, attitudes and knowledge. Two publically accessible databases were used to invite NGHPs providing cancer genetic services to complete a questionnaire. The survey assessed: sociodemographic attributes, experience in ordering hereditary cancer genetic testing, attitude, knowledge, perception of communication skills (e.g. information giving, decision-making) and educational needs. Of all respondents (N = 49, response rate 11%), most have a positive view of their own information giving (mean = 53.91, range 13-65) and decision making skills (64-77% depending on topic). NGHPs feel responsible for enabling disease and treatment related behavior (89-91%). However, 20-30% reported difficulties managing patients' emotions and did not see management of long-term emotions as their responsibility. Correct answers on knowledge questions ranged between 41 and 96%. Higher knowledge was associated with more confidence in NGHPs' own communication skills (r(s) = .33, p = 0.03). Although NGHPs have a positive view of their communication skills, they perceive more difficulties managing emotions. The association between less confidence in communication skills and lower knowledge level suggests awareness of knowledge gaps affects confidence. NGHPs might benefit from education about managing client emotions. Further research using observation of actual counselling consultations is needed to investigate the skills of this specific group of providers.

  6. The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges

    Directory of Open Access Journals (Sweden)

    Benjamin John Landis


    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.

  7. A test sheet generating algorithm based on intelligent genetic algorithm and hierarchical planning (United States)

    Gu, Peipei; Niu, Zhendong; Chen, Xuting; Chen, Wei


    In recent years, computer-based testing has become an effective method to evaluate students' overall learning progress so that appropriate guiding strategies can be recommended. Research has been done to develop intelligent test assembling systems which can automatically generate test sheets based on given parameters of test items. A good multisubject test sheet depends on not only the quality of the test items but also the construction of the sheet. Effective and efficient construction of test sheets according to multiple subjects and criteria is a challenging problem. In this paper, a multi-subject test sheet generation problem is formulated and a test sheet generating approach based on intelligent genetic algorithm and hierarchical planning (GAHP) is proposed to tackle this problem. The proposed approach utilizes hierarchical planning to simplify the multi-subject testing problem and adopts genetic algorithm to process the layered criteria, enabling the construction of good test sheets according to multiple test item requirements. Experiments are conducted and the results show that the proposed approach is capable of effectively generating multi-subject test sheets that meet specified requirements and achieve good performance.

  8. Life insurance and breast cancer risk assessment: adverse selection, genetic testing decisions, and discrimination. (United States)

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


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

  9. Role of genetic testing in the management of patients with inherited porphyria and their families. (United States)

    Whatley, S D; Badminton, M N


    The porphyrias are a group of mainly inherited metabolic conditions that result from partial deficiency of individual enzymes in the haem biosynthesis pathway. Clinical presentation is either with acute neurovisceral attacks, skin photosensitivity or both, and is due to overproduction of pathway intermediates. The primary diagnosis in the proband is based on biochemical testing of appropriate samples, preferably during or soon after onset of symptoms. The role of genetic testing in the autosomal dominant acute porphyrias (acute intermittent porphyria, hereditary coproporphyria and variegate porphyria) is to identify presymptomatic carriers of the family specific pathogenic mutation so that they can be counselled on how to minimize their risk of suffering an acute attack. At present the additional genetic factors that influence penetrance are not known, and all patients are treated as equally at risk. Genetic testing in the erythropoietic porphyrias (erythropoietic protoporphyria, congenital erythropoietic porphyria and X-linked dominant protoporphyria) is focused on predictive and preconceptual counselling, prenatal testing and genotype-phenotype correlation. Recent advances in analytical technology have resulted in increased sensitivity of mutation detection with success rates of greater than 90% for most of the genes. The ethical and consent issues are discussed. Current research into genetic factors that affect penetrance is likely to lead to a more refined approach to counselling for presymptomatic gene carriers.

  10. Improving Decision Making about Genetic Testing in the Clinic: An Overview of Effective Knowledge Translation Interventions (United States)

    Légaré, France; Robitaille, Hubert; Gane, Claire; Hébert, Jessica; Labrecque, Michel; Rousseau, François


    Background Knowledge translation (KT) interventions are attempts to change behavior in keeping with scientific evidence. While genetic tests are increasingly available to healthcare consumers in the clinic, evidence about their benefits is unclear and decisions about genetic testing are thus difficult for all parties. Objective We sought to identify KT interventions that involved decisions about genetic testing in the clinical context and to assess their effectiveness for improving decision making in terms of behavior change, increased knowledge and wellbeing. Methods We searched for trials assessing KT interventions in the context of genetic testing up to March 2014 in all systematic reviews (n = 153) published by two Cochrane review groups: Effective Practice and Organisation of Care (EPOC) and Consumers and Communication. Results We retrieved 2473 unique trials of which we retained only 28 (1%). Two EPOC reviews yielded two trials of KT interventions: audit and feedback (n = 1) and educational outreach (n = 1). Both targeted health professionals and the KT intervention they assessed was found to be effective. Four Consumers and Communication reviews yielded 26 trials: decision aids (n = 15), communication of DNA-based disease risk estimates (n = 7), personalized risk communication (n = 3) and mobile phone messaging (n = 1). Among these, 25 trials targeted only health consumers or patients and the KT interventions were found to be effective in four trials, partly effective in seven, and ineffective in four. Lastly, only one trial targeted both physicians and patients and was found to be effective. Conclusions More research on the effectiveness of KT interventions regarding genetic testing in the clinical context may contribute to patients making informed value-based decisions and drawing the maximum benefit from clinical applications of genetic and genomic innovations. PMID:26938633

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


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


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

  12. 49 CFR 219.605 - Positive drug test results; procedures. (United States)


    ... ADMINISTRATION, DEPARTMENT OF TRANSPORTATION CONTROL OF ALCOHOL AND DRUG USE Random Alcohol and Drug Testing Programs § 219.605 Positive drug test results; procedures. (a) [Reserved] (b) Procedures for administrative... 49 Transportation 4 2010-10-01 2010-10-01 false Positive drug test results; procedures. 219.605...

  13. A prenatal case with discrepant findings between non-invasive prenatal testing and fetal genetic testings. (United States)

    Pan, Qiong; Sun, Baojuan; Huang, Xiaoli; Jing, Xin; Liu, Hailiang; Jiang, Fuman; Zhou, Jie; Lin, Mengmeng; Yue, Hongni; Hu, Ping; Ning, Ying


    At 17(+4) week, non-invasive prenatal testing (NIPT) results of a 24-years-old mother showed high risk of monosomy X (45, X). Abnormally shaped head and cardiac defects were observed in prenatal ultrasound scan at 19(+3) week. Amniocentesis conducted at 19(+3) week identified karyotype 47, XX, +18, which suggested that the NIPT failed to detect trisomy 18 (T18) in this case. With a further massively parallel sequencing (MPS) of maternal blood, fetal and placental tissues, we found a confined placental mosaicism (CPM) with non-mosaic T18 fetus and multiclonal placenta with high prevalence of 45, X and low level of T18 cells. FISH and SNP-array evidence from the placental tissue confirmed genetic discrepancy between the fetus and placenta. Because the primary source of the fetal cell-free DNA that NIPT assesses is mostly originated from trophoblast cells, the level of T18 placental mosaicism may cause false negative NIPT result in this rare case of double aneuploidy.

  14. Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases. (United States)

    Krabbenborg, Lotte; Vissers, L E L M; Schieving, J; Kleefstra, T; Kamsteeg, E J; Veltman, J A; Willemsen, M A; Van der Burg, S


    The use of whole exome sequencing (WES) for diagnostics of children with rare genetic diseases raises questions about best practices in genetic counselling. While a lot of attention is now given to pre-test counselling procedures for WES, little is known about how parents experience the (positive, negative, or inconclusive) WES results in daily life. To fill this knowledge gap, data were gathered through in-depth interviews with parents of 15 children who underwent WES analysis. WES test results, like results from other genetic tests, evoked relief as well as worries, irrespective of the type of result. Advantages of obtaining a conclusive diagnosis included becoming more accepting towards the situation, being enabled to attune care to the needs of the child, and better coping with feelings of guilt. Disadvantages experienced included a loss of hope for recovery, and a loss by parents of their social network of peers and the effort necessary to re-establish that social network. While parents with conclusive diagnoses were able to re-establish a peer community with the help of social media, parents receiving a possible diagnosis experienced hurdles in seeking peer support, as peers still needed to be identified. These types of psychosocial effects of WES test results for parents are important to take into account for the development of successful genetic counselling strategies.

  15. Sickle Cell Trait in Blacks Can Skew Diabetes Test Results (United States)

    ... page: Sickle Cell Trait in Blacks Can Skew Diabetes Test Results ... less accurate in black people who have the sickle cell anemia trait, a new study says. The test ...

  16. Effects of testing conditions on conceptual survey results

    Directory of Open Access Journals (Sweden)

    Lin Ding


    Full Text Available Pre-testing and post-testing is a commonly used method in Physics Education Research to assess student learning gains. It is well recognized in the community that timings and incentives in delivering conceptual tests can impact test results. However, it is difficult to control these variables across different studies. As a common practice, a pre-test is often administered either at or near the beginning of a course, while a post-test can be given either at or near the end of a course. Also, in conducting such tests there often is no norm as to whether incentives should be offered to students. Because these variations can significantly affect test results, it is important to study and document their impact. We analyzed five years of data that were collected at The Ohio State University from over 2100 students, who took both the pre-test and post-test of the Conceptual Survey of Electricity and Magnetism under various timings and incentives. We observed that the actual time frame for giving a test has a marked effect on the test results and that incentive granting also has a significant influence on test outcomes. These results suggest that one should carefully monitor and document the conditions under which tests are administered.

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

    Directory of Open Access Journals (Sweden)

    Summer L. Cox


    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.

  18. Return of individual genetic results in a high-risk sample: enthusiasm and positive behavioral change. (United States)

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


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

  19. Genetic Counseling and Evaluation for BRCA1/2 Testing (United States)

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

  20. Unambiguous test results or individual independence? The role of clients and families in predictive BRCA-testing in the Netherlands compared to the USA

    NARCIS (Netherlands)

    Boenink, Marianne


    It has been frequently acknowledged that results of predictive genetic tests may have implications for relatives as well as for the individual client. Ethicists have noted that an individual’s right to know her genetic risk may conflict with a relative’s right not to know this risk. It is hardly rec

  1. Irradiation Effects Test Series: Test IE-2. Test results report. [PWR

    Energy Technology Data Exchange (ETDEWEB)

    Allison, C. M.; Croucher, D. W.; Ploger, S. A.; Mehner, A. S.


    The report describes the results of a test using four 0.97-m long PWR-type fuel rods with differences in diametral gap and cladding irradiation. The objective of this test was to provide information about the effects of these differences on fuel rod behavior during quasi-equilibrium and film boiling operation. The fuel rods were subjected to a series of preconditioning power cycles of less than 30 kW/m. Rod powers were then increased to 68 kW/m at a coolant mass flux of 4900 kg/s-m/sup 2/. After one hour at 68 kW/m, a power-cooling-mismatch sequence was initiated by a flow reduction at constant power. At a flow of 2550 kg/s-m/sup 2/, the onset of film boiling occurred on one rod, Rod IE-011. An additional flow reduction to 2245 kg/s-m/sup 2/ caused the onset of film boiling on the remaining three rods. Data are presented on the behavior of fuel rods during quasiequilibrium and during film boiling operation. The effects of initial gap size, cladding irradiation, rod power cycling, a rapid power increase, and sustained film boiling are discussed. These discussions are based on measured test data, preliminary postirradiation examination results, and comparisons of results with FRAP-T3 computer model calculations.

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

    Energy Technology Data Exchange (ETDEWEB)

    Duster, T.


    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.

  3. On Generating Optimal Signal Probabilities for Random Tests: A Genetic Approach

    Directory of Open Access Journals (Sweden)

    M. Srinivas


    Full Text Available Genetic Algorithms are robust search and optimization techniques. A Genetic Algorithm based approach for determining the optimal input distributions for generating random test vectors is proposed in the paper. A cost function based on the COP testability measure for determining the efficacy of the input distributions is discussed. A brief overview of Genetic Algorithms (GAs and the specific details of our implementation are described. Experimental results based on ISCAS-85 benchmark circuits are presented. The performance of our GAbased approach is compared with previous results. While the GA generates more efficient input distributions than the previous methods which are based on gradient descent search, the overheads of the GA in computing the input distributions are larger.

  4. Lay perceptions of predictive testing for diabetes based on DNA test results versus family history assessment: a focus group study

    Directory of Open Access Journals (Sweden)

    Cornel Martina C


    Full Text Available Abstract Background This study assessed lay perceptions of issues related to predictive genetic testing for multifactorial diseases. These perceived issues may differ from the "classic" issues, e.g. autonomy, discrimination, and psychological harm that are considered important in predictive testing for monogenic disorders. In this study, type 2 diabetes was used as an example, and perceptions with regard to predictive testing based on DNA test results and family history assessment were compared. Methods Eight focus group interviews were held with 45 individuals aged 35-70 years with (n = 3 and without (n = 1 a family history of diabetes, mixed groups of these two (n = 2, and diabetes patients (n = 2. All interviews were transcribed and analysed using Atlas-ti. Results Most participants believed in the ability of a predictive test to identify people at risk for diabetes and to motivate preventive behaviour. Different reasons underlying motivation were considered when comparing DNA test results and a family history risk assessment. A perceived drawback of DNA testing was that diabetes was considered not severe enough for this type of risk assessment. In addition, diabetes family history assessment was not considered useful by some participants, since there are also other risk factors involved, not everyone has a diabetes family history or knows their family history, and it might have a negative influence on family relations. Respect for autonomy of individuals was emphasized more with regard to DNA testing than family history assessment. Other issues such as psychological harm, discrimination, and privacy were only briefly mentioned for both tests. Conclusion The results suggest that most participants believe a predictive genetic test could be used in the prevention of multifactorial disorders, such as diabetes, but indicate points to consider before both these tests are applied. These considerations differ with regard to the method of assessment

  5. A test of genetic models for the evolutionary maintenance of same-sex sexual behaviour. (United States)

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


    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.

  6. Tests for genetic interactions in type 1 diabetes

    DEFF Research Database (Denmark)

    Morahan, Grant; Mehta, Munish; James, Ian


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

  7. Genetic testing of children for predisposition to mood disorders: anticipating the clinical issues. (United States)

    Erickson, Jessica A; Kuzmich, Lili; Ormond, Kelly E; Gordon, Erynn; Christman, Michael F; Cho, Mildred K; Levinson, Douglas F


    Large-scale sequencing information may provide a basis for genetic tests for predisposition to common disorders. In this study, participants in the Coriell Personalized Medicine Collaborative (N = 53) with a personal and/or family history of Major Depressive Disorder or Bipolar Disorder were interviewed based on the Health Belief Model around hypothetical intention to test one's children for probability of developing a mood disorder. Most participants (87 %) were interested in a hypothetical test for children that had high ("90 %") positive predictive value, while 51 % of participants remained interested in a modestly predictive test ("20 %"). Interest was driven by beliefs about effects of test results on parenting behaviors and on discrimination. Most participants favored testing before adolescence (64 %), and were reluctant to share results with asymptomatic children before adulthood. Participants anticipated both positive and negative effects of testing on parental treatment and on children's self-esteem. Further investigation will determine whether these findings will generalize to other complex disorders for which early intervention is possible but not clearly demonstrated to improve outcomes. More information is also needed about the effects of childhood genetic testing and sharing of results on parent-child relationships, and about the role of the child in the decision-making process.

  8. 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 (United States)

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


    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…

  9. Comparison of Fluorescence In Situ Hybridization and Chromogenic In Situ Hybridization for Low and High Throughput HER2 Genetic Testing

    DEFF Research Database (Denmark)

    Poulsen, Tim S; Espersen, Maiken Lise Marcker; Kofoed, Vibeke


    results show that the differences between the HER2 genetic assays do not have an effect on the analytic performance and the CISH technology is superior to high throughput HER2 genetic testing due to scanning speed, while the IQ-FISH may still be a choice for fast low throughput HER2 genetic testing.......The purpose was to evaluate and compare 5 different HER2 genetic assays with different characteristics that could affect the performance to analyze the human epidermal growth factor 2 (HER2) gene copy number under low and high throughput conditions. The study included 108 tissue samples from breast...... cancer patients with HER2 immunohistochemistry (IHC) results scored as 0/1+, 2+, and 3+. HER2 genetic status was analysed using chromogenic in situ hybridization (CISH) and fluorescence in situ hybridization (FISH). Scoring results were documented through digital image analysis. The cancer region...


    Directory of Open Access Journals (Sweden)

    A. Bramante


    Full Text Available Safety and quality foods of animal origin are extremely important for consumers. The aim of this work was to evaluate the feasibility of a method to track the breed origin of sheep meat all along the production chain using molecular genetics tools. A total of 800 samples evenly distributed among seven Italian sheep breeds have been typed at 19 STR markers, together with 90 samples from both imported sheep animals and local crossbred animals withdrawn at slaughterhouses. A maximum likelihood assignment test was adopted to evaluate STR ability to allocate samples to their true breed of origin. Sarda animals were all correctly allocated, as well as more than 98% of samples from the other breeds. Only slightly worst allocation performances were observed for imported and crossbred animals. Preliminary results seem quite promising, though further analyses will be needed in order to better understand the statistical power of such an assignment test before implementation in the sheep meat production chain.

  11. 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


    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

  12. Learners in dialogue. Teacher experise and learning in the context of genetic testing



    Learners in Dialogue; this thesis aims at the exploration of teacher expertise for teachers who want to teach genetics in the context of genetic testing and at finding ways to foster teacher learning concerning this expertise. Recent developments in the field of genomics will impact the daily practice of biology teachers who teach genetics in secondary education. A special focus was on moral reasoning because reasoning and decision-making based on genetic information in such test situations i...

  13. Are the Federal Reserve's Stress Test Results Predictable?


    Paul Glasserman; Gowtham Tangirala


    Regulatory stress tests have become a key tool for setting bank capital levels. Publicly disclosed results for four rounds of stress tests suggest that as the stress testing process has evolved, its outcomes have become more predictable and therefore arguably less informative. In particular, projected stress losses in the 2013 and 2014 stress tests are nearly perfectly correlated for bank holding companies that participated in both rounds. We also compare projected losses across different sce...

  14. Hawaiian Electric Advanced Inverter Test Plan - Result Summary

    Energy Technology Data Exchange (ETDEWEB)

    Hoke, Anderson; Nelson, Austin; Prabakar, Kumaraguru; Nagarajan, Adarsh


    This presentation is intended to share the results of lab testing of five PV inverters with the Hawaiian Electric Companies and other stakeholders and interested parties. The tests included baseline testing of advanced inverter grid support functions, as well as distribution circuit-level tests to examine the impact of the PV inverters on simulated distribution feeders using power hardware-in-the-loop (PHIL) techniques. hardware-in-the-loop (PHIL) techniques.

  15. Testing the influence of habituation on genetic structure of brown bear (Ursus arctos

    Directory of Open Access Journals (Sweden)

    Ancuţa Cotovelea


    Full Text Available Adult bear individuals live solitary and haveprolonged parent–offspring relationships, therefore the share of learned skills compared to the inherited ones is much larger than in other carnivores. This promotes acquisition of deviated behavior and simultaneously establishment of a kinship structure. However, deviated bear behavior and human food conditioning are the symptoms of habituation. The aim of this paper is to test the genetic structuring of habituated and non-habituated individuals located in the central region of Romania (Braşov and Prahova districts, a hotspot in terms of human-bear conflicts. Seven microsatellites were used to genotype 145 samples (ear clips and tissue, out of which 82 were classified as habituated and 63 as wild individuals, respectively. Our results suggest the presence of kinship structures in habituated bear group and a reduction of genetic diversity (He = 0.75, while the group located in the wild registered a higher genetic diversity (He = 0.78 and more private alleles. The genetic differentiation suggested by the Neighbor joining cluster analysis has been strengthened by the two percent (AMOVA differences between the two groups and highlights the negative impact of brown bear kinship structure, caused by the human expansion on wilderness. The genetic analyses indicated that the two groups share genetic variants due to the dispersal and breeding patterns of male adult bears. The emergence of genetic differences between the two groups can be avoided by preventing bears to become human-food conditioned; over time, kinship structure can pose a threat to genetic diversity.

  16. Development of a Tool to Guide Parents Carrying a BRCA1/2 Mutation Share Genetic Results with Underage Children. (United States)

    Santerre-Theil, Ariane; Bouchard, Karine; St-Pierre, Dominique; Drolet, Anne-Marie; Chiquette, Jocelyne; Dorval, Michel


    Although most parents carrying a BRCA1/2 genetic mutation share their test result with their underage children, they report needing support to decide if, when, and how to share risk information and what reactions to expect from their children. We developed a tool to guide parents carrying a BRCA1/2 mutation share their genetic result with underage children. Here, we report on the development of this tool using a qualitative methodology. A tool prototype was developed based on the International Patient Decision Aids Standards Collaboration framework. Content was assessed using feedback from focus groups, individual interviews, and a 12-item reading grid. Participants were nine BRCA1/2 mutation carriers with underage children and three cancer genetics health professionals. Thematic content analysis was conducted on interview transcripts. The tool was developed using an iterative process until saturation of data. An independent advisory committee was involved in all steps of tool development until reaching consensus. Rather than a decision aid per se (to communicate or not), the parents wanted a more comprehensive tool to help them communicate genetic test result to their children. To meet parents' needs, a communication guidance booklet was developed, setting out the pros and cons of communication, steps to prepare sharing the test result, communication tips, and parents' testimonies. This communication tool responds to a significant unmet need faced by parents carrying a genetic predisposition to cancer. Future studies are needed to assess how the information from the parent's genetic test result impacts the child's development, health behaviors, and relationship with the parent.

  17. [Direct-to-consumer genetic testing through Internet: marketing, ethical and social issues]. (United States)

    Ducournau, Pascal; Gourraud, Pierre-Antoine; Rial-Sebbag, Emmanuelle; Bulle, Alexandre; Cambon-Thomsen, Anne


    We probably did not anticipate all the consequences of the direct to consumer genetic tests on Internet, resulting from the combined skills of communication and genomic advances. What are the commercial strategies used by the companies offering direct-to-consumer genetic tests on Internet and what are the different social expectations on which they focus? Through a quantitative and qualitative analysis of the web sites offering such tests, it seems that these companies target a triple market based on: the "healthism" which raises health and hygiene to the top of the social values; the contemporary demands of the users to become actual actors of health decisions; and finally on the need for bio-social relationships. These three commercial strategies underlie various ethical and societal issues justifying a general analysis.

  18. Testing for Hardy–Weinberg equilibrium at biallelic genetic markers on the X chromosome (United States)

    Graffelman, J; Weir, B S


    Testing genetic markers for Hardy–Weinberg equilibrium (HWE) is an important tool for detecting genotyping errors in large-scale genotyping studies. For markers at the X chromosome, typically the χ2 or exact test is applied to the females only, and the hemizygous males are considered to be uninformative. In this paper we show that the males are relevant, because a difference in allele frequency between males and females may indicate HWE not to hold. The testing of markers on the X chromosome has received little attention, and in this paper we lay down the foundation for testing biallelic X-chromosomal markers for HWE. We develop four frequentist statistical test procedures for X-linked markers that take both males and females into account: the χ2 test, likelihood ratio test, exact test and permutation test. Exact tests that include males are shown to have a better Type I error rate. Empirical data from the GENEVA project on venous thromboembolism is used to illustrate the proposed tests. Results obtained with the new tests differ substantially from tests that are based on female genotype counts only. The new tests detect differences in allele frequencies and seem able to uncover additional genotyping error that would have gone unnoticed in HWE tests based on females only. PMID:27071844

  19. Direct-to-consumer genetic testing: a systematic review of european guidelines, recommendations, and position statements. (United States)

    Rafiq, Muhammad; Ianuale, Carolina; Ricciardi, Walter; Boccia, Stefania


    Personalized healthcare is expected to yield promising results, with a paradigm shift toward more personalization in the practice of medicine. This emerging field has wide-ranging implications for all the stakeholders. Commercial tests in the form of multiplex genetic profiles are currently being provided to consumers, without the physicians' consultation, through the Internet, referred to as direct-to-consumer genetic tests (DTC GT). The objective was to review all the existing European guidelines on DTC GT, and its associated interventions, to list all the supposed benefits and harms, issues and concerns, and recommendations. We conducted a systematic review of position statements, policies, guidelines, and recommendations, produced by professional organizations or other relevant bodies for use of DTC GT in Europe. Seventeen documents met the inclusion criteria, which were subjected to thematic analysis, and the texts were coded for statements related to use of DTC GT. Professional societies and associations are currently more suggestive of potential disadvantages of DTC GT, recommending improved genetic literacy of both populations and health professionals, and implementation research on the genetic tests to integrate public health genomics into healthcare systems.

  20. An investigation of genetic counselors' testing recommendations: pedigree analysis and the use of multiplex breast cancer panel testing. (United States)

    Lundy, Meghan G; Forman, Andrea; Valverde, Kathleen; Kessler, Lisa


    Genetic testing recommendations for hereditary breast and ovarian cancer involve pedigree analysis and consultation of testing guidelines. The testing landscape for hereditary cancer syndromes is shifting as multiplex panel tests become more widely integrated into clinical practice. The purpose of the current study was to assess how genetic counselors utilize pedigrees to make recommendations for genetic testing, to determine consistency of these recommendations with National Comprehensive Cancer Network (NCCN) Guidelines and to explore current use of multiplex panel testing. Sixty-nine genetic counselors were recruited through the National Society of Genetic Counselors Cancer Special Interest Group's Discussion Forum. Participation involved pedigree analysis and completion of an online questionnaire assessing testing recommendations and use of multiplex panel testing. Pedigree analysis and test recommendations were scored for consistency with NCCN guidelines. The average score was 12.83/15 indicating strong consistency with NCCN guidelines. Participants were more likely to consider multiplex testing when pedigrees demonstrated highly penetrant dominant inheritance but were not indicative of a particular syndrome. Participant concerns about multiplex panel testing include limited guidelines for both testing eligibility and medical management. This study demonstrates high utilization of pedigree analysis and raises new questions about its use in multiplex genetic testing.

  1. Results of Detailed Hydrologic Characterization Tests - Fiscal Year 1999

    Energy Technology Data Exchange (ETDEWEB)

    Spane, Frank A.; Thorne, Paul D.; Newcomer, Darrell R.


    This report provides the results of detailed hydrologic characterization tests conducted within newly constructed Hanford Site wells during FY 1999. Detailed characterization tests performed during FY 1999 included: groundwater flow characterization, barometric response evaluation, slug tests, single-well tracer tests, constant-rate pumping tests, and in-well vertical flow tests. Hydraulic property estimates obtained from the detailed hydrologic tests include: transmissivity, hydraulic conductivity, specific yield, effective porosity, in-well lateral flow velocity, aquifer flow velocity, vertical distribution of hydraulic conductivity (within the well-screen section) and in-well vertical flow velocity. In addition, local groundwater flow characteristics (i.e., hydraulic gradient and flow direction) were determined for four sites where detailed well testing was performed.

  2. Artificial insemination in captive Whooping Cranes: Results from genetic analyses (United States)

    Jones, K.L.; Nicolich, Jane M.


    Artificial insemination has been used frequently in the captive whooping crane (Grus americana) population. In the 1980s, it was necessary at times to inseminate females with semen from several males during the breeding season or with semen from multiple males simultaneously due to unknown sperm viability of the breeding males. The goals of this study were to apply microsatellite DNA profiles to resolve uncertain paternities and to use these results to evaluate the current paternity assignment assumptions used by captive managers. Microsatellite DNA profiles were successful in resolving 20 of 23 paternity questions. When resolved paternities were coupled with data on insemination timing, substantial information was revealed on fertilization timing in captive whooping cranes. Delayed fertilization from inseminations 6+ days pre-oviposition suggests capability of sperm storage.

  3. Genetic parameters for tunisian holsteins using a test-day random regression model. (United States)

    Hammami, H; Rekik, B; Soyeurt, H; Ben Gara, A; Gengler, N


    Genetic parameters of milk, fat, and protein yields were estimated in the first 3 lactations for registered Tunisian Holsteins. Data included 140,187; 97,404; and 62,221 test-day production records collected on 22,538; 15,257; and 9,722 first-, second-, and third-parity cows, respectively. Records were of cows calving from 1992 to 2004 in 96 herds. (Co)variance components were estimated by Bayesian methods and a 3-trait-3-lactation random regression model. Gibbs sampling was used to obtain posterior distributions. The model included herd x test date, age x season of calving x stage of lactation [classes of 25 days in milk (DIM)], production sector x stage of lactation (classes of 5 DIM) as fixed effects, and random regression coefficients for additive genetic, permanent environmental, and herd-year of calving effects, which were defined as modified constant, linear, and quadratic Legendre coefficients. Heritability estimates for 305-d milk, fat and protein yields were moderate (0.12 to 0.18) and in the same range of parameters estimated in management systems with low to medium production levels. Heritabilities of test-day milk and protein yields for selected DIM were higher in the middle than at the beginning or the end of lactation. Inversely, heritabilities of fat yield were high at the peripheries of lactation. Genetic correlations among 305-d yield traits ranged from 0.50 to 0.86. The largest genetic correlation was observed between the first and second lactation, potentially due to the limited expression of genetic potential of superior cows in later lactations. Results suggested a lack of adaptation under the local management and climatic conditions. Results should be useful to implement a BLUP evaluation for the Tunisian cow population; however, results also indicated that further research focused on data quality might be needed.

  4. Bend it like Beckham! The Ethics of Genetically Testing Children for Athletic Potential. (United States)

    Camporesi, Silvia


    The recent boom of direct-to-consumer (DTC) genetic tests, aimed at measuring children's athletic potential, is the latest wave in the 'pre-professionalization' of children that has characterized, especially but not exclusively, the USA in the last 15 years or so. In this paper, I analyse the use of DTC genetic tests, sometimes coupled with more traditional methods of 'talent scouting', to assess a child's predisposition to athletic performance. I first discuss the scientific evidence at the basis of these tests, and the parental decision in terms of education, and of investing in the children's future, taken on the basis of the results of the tests. I then discuss how these parental practices impact on the children's right to an open future, and on their developing sense of autonomy. I also consider the meaning and role of sports in childhood, and conclude that the use of DTC genetic tests to measure children's athletic potential should be seen as a 'wake up' call for other problematic parental attitudes aimed at scouting and developing children's talent.

  5. Environmental testing results over a tracker drive train (United States)

    Martínez, María; Calvo-Parra, Gustavo; Gil, Eduardo; de la Rubia, Oscar; Hillebrand, Mario; Rubio, Francisca; Aipperspach, Wolfgang; Gombert, Andreas


    Environmental testing following the draft of the IEC62817 standard has been carried out at ISFOC using a Soitec Solar tracker drive. The objective of this work is twofold; first to assure that the tracker design can perform under varying conditions and survive under extreme conditions and secondly to test the viability and usefulness of the tests described in the standard. After some changes in the device under test (specifically, gear-box oil) the drive system produced satisfactory results, assuring its performance under operational temperatures. Therefore, this work has demonstrated that the tests described in the standard are useful for detecting early failures.

  6. Internet-Based Direct-to-Consumer Genetic Testing: A Systematic Review. (United States)

    Covolo, Loredana; Rubinelli, Sara; Ceretti, Elisabetta; Gelatti, Umberto


    Direct-to-consumer genetic tests (DTC-GT) are easily purchased through the Internet, independent of a physician referral or approval for testing, allowing the retrieval of genetic information outside the clinical context. There is a broad debate about the testing validity, their impact on individuals, and what people know and perceive about them. The aim of this review was to collect evidence on DTC-GT from a comprehensive perspective that unravels the complexity of the phenomenon. A systematic search was carried out through PubMed, Web of Knowledge, and Embase, in addition to Google Scholar according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist with the key term "Direct-to-consumer genetic test." In the final sample, 118 articles were identified. Articles were summarized in five categories according to their focus on (1) knowledge of, attitude toward use of, and perception of DTC-GT (n=37), (2) the impact of genetic risk information on users (n=37), (3) the opinion of health professionals (n=20), (4) the content of websites selling DTC-GT (n=16), and (5) the scientific evidence and clinical utility of the tests (n=14). Most of the articles analyzed the attitude, knowledge, and perception of DTC-GT, highlighting an interest in using DTC-GT, along with the need for a health care professional to help interpret the results. The articles investigating the content analysis of the websites selling these tests are in agreement that the information provided by the companies about genetic testing is not completely comprehensive for the consumer. Given that risk information can modify consumers' health behavior, there are surprisingly few studies carried out on actual consumers and they do not confirm the overall concerns on the possible impact of DTC-GT. Data from studies that investigate the quality of the tests offered confirm that they are not informative, have little predictive power, and do not measure genetic risk

  7. Awareness, knowledge, perceptions, and attitudes towards genetic testing for cancer risk among ethnic minority groups: a systematic review. (United States)

    Hann, Katie E J; Freeman, Madeleine; Fraser, Lindsay; Waller, Jo; Sanderson, Saskia C; Rahman, Belinda; Side, Lucy; Gessler, Sue; Lanceley, Anne


    Genetic testing for risk of hereditary cancer can help patients to make important decisions about prevention or early detection. US and UK studies show that people from ethnic minority groups are less likely to receive genetic testing. It is important to understand various groups' awareness of genetic testing and its acceptability to avoid further disparities in health care. This review aims to identify and detail awareness, knowledge, perceptions, and attitudes towards genetic counselling/testing for cancer risk prediction in ethnic minority groups. A search was carried out in PsycInfo, CINAHL, Embase and MEDLINE. Search terms referred to ethnicity, genetic testing/counselling, cancer, awareness, knowledge, attitudes, and perceptions. Quantitative and qualitative studies, written in English, and published between 2000 and 2015, were included. Forty-one studies were selected for review: 39 from the US, and two from Australia. Results revealed low awareness and knowledge of genetic counselling/testing for cancer susceptibility amongst ethnic minority groups including African Americans, Asian Americans, and Hispanics. Attitudes towards genetic testing were generally positive; perceived benefits included positive implications for personal health and being able to inform family. However, negative attitudes were also evident, particularly the anticipated emotional impact of test results, and concerns about confidentiality, stigma, and discrimination. Chinese Australian groups were less studied, but of interest was a finding from qualitative research indicating that different views of who close family members are could impact on reported family history of cancer, which could in turn impact a risk assessment. Interventions are needed to increase awareness and knowledge of genetic testing for cancer risk and to reduce the perceived stigma and taboo surrounding the topic of cancer in ethnic minority groups. More detailed research is needed in countries other than the US and

  8. Test results judgment method based on BIT faults

    Institute of Scientific and Technical Information of China (English)

    Wang Gang; Qiu Jing; Liu Guanjun; Lyu Kehong


    Built-in-test (BIT) is responsible for equipment fault detection, so the test data correct-ness directly influences diagnosis results. Equipment suffers all kinds of environment stresses, such as temperature, vibration, and electromagnetic stress. As embedded testing facility, BIT also suffers from these stresses and the interferences/faults are caused, so that the test course is influenced, resulting in incredible results. Therefore it is necessary to monitor test data and judge test failures. Stress monitor and BIT self-diagnosis would redound to BIT reliability, but the existing anti-jamming researches are mainly safeguard design and signal process. This paper focuses on test results monitor and BIT equipment (BITE) failure judge, and a series of improved approaches is proposed. Firstly the stress influences on components are illustrated and the effects on the diagnosis results are summarized. Secondly a composite BIT program is proposed with information integra-tion, and a stress monitor program is given. Thirdly, based on the detailed analysis of system faults and forms of BIT results, the test sequence control method is proposed. It assists BITE failure judge and reduces error probability. Finally the validation cases prove that these approaches enhance credibility.

  9. Results of recent KROTOS FCI tests. Alumina vs. corium melts

    Energy Technology Data Exchange (ETDEWEB)

    Huhtiniemi, I.; Magallon, D.; Hohmann, H. [Commission of the European Communities, Ispra (Italy). Joint Research Center


    Recent results from KROTOS fuel-coolant interaction experiments are discussed. Five tests with alumina were performed under highly subcooled conditions, all of these tests resulted in spontaneous steam explosions. Additionally, four tests were performed at low subcooling to confirm, on one hand, the suppression of spontaneous steam explosions under such conditions and, on the other hand, that such a system is still triggerable using an external initiator. The other test parameters in these alumina tests included the melt superheat and the initial pressure. All the tests in the investigated superheat range (150 K - 750 K) produced a steam explosion and no evidence of the explosion suppression by the elevated initial pressure (in the limited range of 0.1 - 0.375 MPa) was observed in the alumina tests. The corium test series include a test with 3 kg of melt under both subcooled and near saturated conditions at ambient pressure. Two additional tests were performed with subcooled water; one test was performed at an elevated pressure of 0.2 MPa with 2.4 kg of melt and another test with 5.1 kg of melt at ambient pressure. None of these tests with corium produced a propagating energetic steam explosion. However, propagating low energy (about twice the energy of the trigger pulse) events were observed. All corium tests produced significantly higher water level swells during the mixing phase than the corresponding alumina tests. Present experimental evidence suggests that the water depletion in the mixing zone suppresses energetic steam explosions with corium melts at ambient pressure and in the present pour geometry. Processes that could produce such a difference in void generation are discussed. (author)

  10. How genetic analysis tests theories of animal aging. (United States)

    Hekimi, Siegfried


    Each animal species displays a specific life span, rate of aging and pattern of development of age-dependent diseases. The genetic bases of these related features are being studied experimentally in invertebrate and vertebrate model systems as well as in humans through medical records. Three types of mutants are being analyzed: (i) short-lived mutants that are prone to age-dependent diseases and might be models of accelerated aging; (ii) mutants that show overt molecular defects but that do not live shorter lives than controls, and can be used to test specific theories about the molecular causes of aging and age-dependent diseases; and (iii) long-lived mutants that might advance the understanding of the molecular physiology of slow-aging animals and aid the discovery of molecular targets that could be used to manipulate rates of aging to benefit human health. Here, I analyze some of what we know today and discuss what we should try to find out in the future to understand the aging phenomenon.

  11. [Non-invasive Genetic Prenatal Testing - A Serious Challenge for Society as a Whole]. (United States)

    Zerres, K


    Non-invasive genetic prenatal tests nowadays allow a highly reliable identification of pregnancies with foetal aneuploidies. Due to the general availability of these tests for all pregnant women, non-invasive genetic prenatal testing raises many ethical questions whieh can only be answered by a debate focused on society as a whole.

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

    NARCIS (Netherlands)

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


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

  13. Choice of Reading Comprehension Test Influences the Outcomes of Genetic Analyses (United States)

    Betjemann, Rebecca S.; Keenan, Janice M.; Olson, Richard K.; DeFries, John C.


    Does the choice of test for assessing reading comprehension influence the outcome of genetic analyses? A twin design compared two types of reading comprehension tests classified as primarily associated with word decoding (RC-D) or listening comprehension (RC-LC). For both types of tests, the overall genetic influence is high and nearly identical.…

  14. 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 q

  15. Finite Element Analysis and Test Results Comparison for the Hybrid Wing Body Center Section Test Article (United States)

    Przekop, Adam; Jegley, Dawn C.; Rouse, Marshall; Lovejoy, Andrew E.


    This report documents the comparison of test measurements and predictive finite element analysis results for a hybrid wing body center section test article. The testing and analysis efforts were part of the Airframe Technology subproject within the NASA Environmentally Responsible Aviation project. Test results include full field displacement measurements obtained from digital image correlation systems and discrete strain measurements obtained using both unidirectional and rosette resistive gauges. Most significant results are presented for the critical five load cases exercised during the test. Final test to failure after inflicting severe damage to the test article is also documented. Overall, good comparison between predicted and actual behavior of the test article is found.

  16. Ethical aspects of undergoing a predictive genetic testing for Huntington's disease. (United States)

    Andersson, Petra Lilja; Juth, Niklas; Petersén, Åsa; Graff, Caroline; Edberg, Anna-Karin


    The aim of this study was to describe the experiences of undergoing a presymptomatic genetic test for the hereditary and fatal Huntington's disease, using a case study approach. The study was based on 18 interviews with a young woman and her husband from the decision to undergo the test, to receiving the results and trying to adapt to them, which were analysed using a life history approach. The findings show that the process of undergoing a presymptomatic test involves several closely connected ethical and medical questions, such as the reason for the test, the consequences of the test results and how health-care services can be developed to support people in this situation.

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


    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.

  18. Mechanical properties testing and results for thermal barrier coatings

    Energy Technology Data Exchange (ETDEWEB)

    Cruse, T.A.; Johnsen, B.P.; Nagy, A.


    The paper reports on several years of mechanical testing of thermal barrier coatings. The test results were generated to support the development of durability models for the coatings in heat engine applications. The test data that are reviewed include modulus, static strength, and fatigue strength data. The test methods and results are discussed, along with the significant difficulties inherent in mechanical testing of thermal barrier coating materials. The materials include 7 percent wt. and 8 percent wt. yttria, partially stabilized zirconia as well as a cermet material. Both low pressure plasma spray and electron-beam physical vapor deposited coatings were tested. The data indicate the basic trends in the mechanical properties of the coatings over a wide range of isothermal conditions. Some of the trends are correlated with material density.

  19. Mechanical properties testing and results for thermal barrier coatings (United States)

    Cruse, Thomas A.; Johnsen, B. P.; Nagy, Andrew


    The paper reports on several years of mechanical testing of thermal barrier coatings. The test results were generated to support the development of durability models for the coatings in heat engine applications. The test data that are reviewed include modulus, static strength, and fatigue strength data. The test methods and results are discussed, along with the significant difficulties inherent in mechanical testing of thermal barrier coating materials. The materials include 7 percent wt. and 8 percent wt. yttria, partially stabilized zirconia as well as a cermet material. Both low pressure plasma spray and electron-beam physical vapor deposited coatings were tested. The data indicate the basic trends in the mechanical properties of the coatings over a wide range of isothermal conditions. Some of the trends are correlated with material density.

  20. Physical and chemical test results of electrostatic safe flooring materials (United States)

    Gompf, R. H.


    This test program was initiated because a need existed at the Kennedy Space Center (KSC) to have this information readily available to the engineer who must make the choice of which electrostatic safe floor to use in a specific application. The information, however, should be of value throughout both the government and private industry in the selection of a floor covering material. Included are the test results of 18 floor covering materials which by test evaluation at KSC are considered electrostatically safe. Tests were done and/or the data compiled in the following areas: electrostatics, flammability, hypergolic compatibility, outgassing, floor type, material thickness, and available colors. Each section contains the test method used to gather the data and the test results.

  1. New results from pulse tests in the CABRI reactor

    Energy Technology Data Exchange (ETDEWEB)

    Schmitz, F.; Papin, J.; Haessler, M. [Institut de Proterction et de Surete Nucleaire, Saint Paul Lez Durance (France)] [and others


    At the 21st and 22nd WRSM (1,2), the motivation and objectives of the French program on the behaviour of high burnup PWR fuel under RIA conditions in the CABRI test reactor has been presented. The major results of the three first tests of the test matrix were presented and in particular REP-Na1, which failed at an unexpected low level of fuel enthalpy, was exposed to the community of nuclear safety research. At this time, no final understanding was reached for the origin of the failure. This objective is reached now. Two further tests, REP-Na4 and 5, have been performed in 1995, they demonstrated a satisfactory and safe behaviour by resisting to the early phase of severe loading during the RIA pulse test. Further examination work and analytical testing is in progress and the next tests with MOX fuel are being prepared.

  2. Genetic counseling and presymptomatic testing programs for Machado-Joseph disease: lessons from Brazil and Portugal

    Directory of Open Access Journals (Sweden)

    Lavínia Schuler-Faccini


    Full Text Available Machado-Joseph disease (MJD is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 gene. Presymptomatic testing (PST can be used to identify persons at risk of developing the disease. Genetic counseling provides patients with information about the disease, genetic risks, PST, and the decision-making process. In this study, we present the protocol used in PST for MJD and the relevant observations from two centers: Brazil (Porto Alegre and Portugal (Porto. We provide a case report that illustrates the significant ethical and psychological issues related to PST in late-onset neurological disorders. In both centers, counseling and PST are performed by a multidisciplinary team, and genetic testing is conducted at the same institutions. From 1999 to 2012, 343 individuals sought PST in Porto Alegre; 263 (77% of these individuals were from families with MJD. In Porto, 1,530 individuals sought PST between 1996 and 2013, but only 66 (4% individuals were from families with MJD. In Brazil, approximately 50% of the people seeking PST eventually took the test and received their results, whereas 77% took the test in Portugal. In this case report, we highlight several issues that might be raised by the consultand and how the team can extract significant information. Literature about PST testing for MJD and other SCAs is scarce, and we hope this report will encourage similar studies and enable the implementation of PST protocols in other populations, mainly in Latin America.

  3. Colorectal Tumour Microsatellite Instability Test Results: Perspectives from Patients

    Directory of Open Access Journals (Sweden)

    Lindor Noralane M


    Full Text Available Abstract Purpose To determine which individuals with colorectal cancer (CRC were interested in knowing the results of their tumour microsatellite instability (MSI and immunohistochemistry (IHC testing. We were also interested in the patients' reasons for choosing to learn their results and in the impact of those results on overall self-assessed quality of life. Patients and Methods CRCs from 414 individuals were assayed for MSI and IHC for DNA mismatch repair gene products (MLH1, MSH2, MSH6. Individuals were invited to learn their MSI/IHC results. They randomly received either brief or extended educational materials about the testing and a pretest survey to learn reasons for their interest and to assess their pretest quality of life. Results Of the 414 individuals, 307 (74% chose to learn their results. There was no significant difference in interest in knowing test results according to gender, age, educational level, or family history of colon cancer. The level of detail in the information piece received by the patients did not influence their desire to know their test results. Self-assessed quality of life was not altered by receiving results and was not correlated with the test outcome. Conclusions Individuals with colorectal cancer had a high level of interest in learning their individual MSI/IHC test results and did not seem deterred by the inherent complexity or ambiguity of this information. Regardless of test outcome, results did not significantly affect self-assessed quality of life. Further studies are needed to assess comprehension of results and behavioural changes resulting from the learning of MSI/IHC results.

  4. Genetics, Genetic Testing, and Management of Hemochromatosis: 15 Years Since Hepcidin. (United States)

    Pietrangelo, Antonello


    The discovery of hepcidin in 2000 and the subsequent unprecedented explosion of research and discoveries in the iron field have dramatically changed our understanding of human disorders of iron metabolism. Today, hereditary hemochromatosis, the paradigmatic iron-loading disorder, is recognized as an endocrine disease due to the genetic loss of hepcidin, the iron hormone produced by the liver. This syndrome is due to unchecked transfer of iron into the bloodstream in the absence of increased erythropoietic needs and its toxic effects in parenchymatous organs. It is caused by mutations that affect any of the proteins that help hepcidin to monitor serum iron, including HFE and, in rarer instances, transferrin-receptor 2 and hemojuvelin, or make its receptor ferroportin, resistant to the hormone. In Caucasians, C282Y HFE homozygotes are numerous, but they are only predisposed to hemochromatosis; complete organ disease develops in a minority, due to alcohol abuse or concurrent genetic modifiers that are now being identified. HFE gene testing can be used to diagnose hemochromatosis in symptomatic patients, but analyses of liver histology and full gene sequencing are required to identify patients with rare, non-HFE forms of the disease. Due to the central pathogenic role of hepcidin, it is anticipated that nongenetic causes of hepcidin loss (eg, end-stage liver disease) can cause acquired forms of hemochromatosis. The mainstay of hemochromatosis management is still removal of iron by phlebotomy, first introduced in 1950s, but identification of hepcidin has not only shed new light on the pathogenesis of the disease and the approach to diagnosis, but etiologic therapeutic applications from these advances are now foreseen.

  5. Sims Prototype System 2 Test Results - Engineering Analysis

    Energy Technology Data Exchange (ETDEWEB)



    This report describes the testing, the problems encountered, and the results and conclusions obtained from tests performed on the IBM Prototype system 2, solar hot water system, at the Marshall space flight Center Solar Test Facility. System 2 is a liquid, non-draining solar energy system for supplying domestic hot water to singe residences. The system consists of collectors, storage tank, heat exchanger, pumps and associated plumbing and controls.

  6. Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy

    National Research Council Canada - National Science Library

    Christiaans, Imke; Birnie, Erwin; Bonsel, Gouke J; Wilde, Arthur A.M; van Langen, Irene M


    .... In 97 hypertrophic cardiomyopathy families with a sarcomere gene mutation we retrospectively determined uptake of genetic counselling and predictive DNA testing in relatives within 1 year after...

  7. Online cognition: factors facilitating reliable online neuropsychological test results. (United States)

    Feenstra, Heleen E M; Vermeulen, Ivar E; Murre, Jaap M J; Schagen, Sanne B


    Online neuropsychological test batteries could allow for large-scale cognitive data collection in clinical studies. However, the few online neuropsychological test batteries that are currently available often still require supervision or lack proper psychometric evaluation. In this paper, we have outlined prerequisites for proper development and use of online neuropsychological tests, with the focus on reliable measurement of cognitive function in an unmonitored setting. First, we identified several technical, contextual, and psychological factors that should be taken into account in order to facilitate reliable test results of online tests in the unmonitored setting. Second, we outlined a methodology of quality assurance needed in order to obtain reliable cognitive data in the long run. Based on factors that distinguish the online unmonitored test setting from the traditional face-to-face setting, we provide a set of basic requirements and suggestions for optimal development and use of unmonitored online neuropsychological tests, including suggestions on acquiring reliability, validity, and norm scores. When properly addressing factors that could hamper reliable test results during development and use, online neuropsychological tests could aid large-scale data collection for clinical studies in the future. Investment in both proper development of online neuropsychological test platforms and the performance of accompanying psychometric studies is currently required.

  8. Expertise for Teaching Biology Situated in the Context of Genetic Testing (United States)

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


    Contemporary genomics research will impact the daily practice of biology teachers who want to teach up-to-date genetics in secondary education. This article reports on a research project aimed at enhancing biology teachers' expertise for teaching genetics situated in the context of genetic testing. The increasing body of scientific knowledge…

  9. Genetic Testing for Deafness--GJB2 and SLC26A4 as Causes of Deafness. (United States)

    Smith, Richard J. H.; Robin, Nathaniel H.


    This article introduces the concept of genetic testing for deafness. Two genes that make appreciable contributions to the autosomal recessive non-syndromic deafness (ARNSD) genetic load are reviewed, GJB2 and SLC26A4. In addition, the unique aspects of genetic counseling for deafness and recurrence chance estimates are explained. (Contains…

  10. Ethical and Social Implications of Genetic Testing for Communication Disorders (United States)

    Arnos, Kathleen S.


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

  11. Proposal for a Test Protocol for Genetically Modified Plants

    DEFF Research Database (Denmark)

    Strandberg, B.; Kjær, C.


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

  12. Results of EMC market surveillance tests for UPS systems

    Energy Technology Data Exchange (ETDEWEB)

    Rajamaeki, J. [Safety Technology Authority, Helsinki (Finland)


    This paper reports the first wide electromagnetic compatibility (EMC) market surveillance project in Finland in which the uninterruptible power systems (UPS) on the Finnish market are monitored. Altogether 11 UPS units are EMC tested and the results of these tests are described in this paper. The effect of basic characters of UPS on the level of electromagnetic interference are analysed. (orig.) 3 refs.

  13. 49 CFR 199.229 - Reporting of alcohol testing results. (United States)


    ... ALCOHOL TESTING Alcohol Misuse Prevention Program § 199.229 Reporting of alcohol testing results. (a) Each... 49 CFR part 40 (at § 40.25 and appendix H to part 40), not later than March 15 of each year for the...

  14. Test results for SEU and SEL immune memory circuits (United States)

    Wiseman, D.; Canaris, J.; Whitaker, S.; Gambles, J.; Arave, K.; Arave, L.


    Test results for three SEU logic/circuit hardened CMOS memory circuits verify upset and latch-up immunity for two configurations to be in excess of 120 MeV cm(exp 2)/mg using a commercial, non-radiation hardened CMOS process. Test chips from three separate fabrication runs in two different process were evaluated.

  15. Covariance Association Test (CVAT) Identifies Genetic Markers Associated with Schizophrenia in Functionally Associated Biological Processes

    DEFF Research Database (Denmark)

    Rohde, Palle Duun; Demontis, Ditte; Castro Dias Cuyabano, Beatriz;


    Schizophrenia is a psychiatric disorder with large personal and social costs, and understanding the genetic etiology is important. Such knowledge can be obtained by testing the association between a disease phenotype and individual genetic markers; however, such single-marker methods have limited...... power to detect genetic markers with small effects. Instead, aggregating genetic markers based on biological information might increase the power to identify sets of genetic markers of etiological significance. Several set test methods have been proposed: Here we propose a new set test derived from...... genomic best linear unbiased prediction (GBLUP), the covariance association test (CVAT). We compared the performance of CVAT to other commonly used set tests. The comparison was conducted using a simulated study population having the same genetic parameters as for schizophrenia. We found that CVAT...

  16. Development and Results of a First Generation Least Expensive Approach to Fission: Module Tests and Results (United States)

    Houts, Mike; Godfroy, Tom; Pederson, Kevin; Sena, J. Tom; VanDyke, Melissa; Dickens, Ricky; Reid, Bob J.; Martin, Jim


    The use of resistance heaters to simulate heat from fission allows extensive development of fission systems to be performed in non-nuclear test facilities, saving time and money. Resistance heated tests on the Module Unfueled Thermal-hydraulic Test (MUTT) article has been performed at the Marshall Space Flight Center. This paper discusses the results of these experiments and identifies future tests to be performed.

  17. Applying Genetic Algorithms to Test JUH DBs Exceptions

    Directory of Open Access Journals (Sweden)

    Mohammad Alshraideh


    Full Text Available Database represents an essential part of software applications. Many organizations use database as a repository for large amount of current and historical information. With this context testing database applications is a key issue that deserves attention. SQL Exception handling mechanism can increase the reliability of the system and improve the robustness of the software. But the exception handling code that is used to respond to exceptional conditions tends to be the source of the systems failure. It is difficult to test the exception handling by traditional methods. This paper presents a new technique that combines mutation testing and global optimization based search algorithm to test exceptions code in Jordan University Hospital (JUH database application. Thus, using mutation testing to speed the raising of exception and global optimization technique in order to automatically generate test cases, we used fitness function depends on range of data related to each query. We try to achieve the coverage of three types of PL/SQL exceptions, which are No_Data_Found (NDF, Too_Many_Rows (TMR and Others exceptions. The results show that TMR exception is not always covered this due to existence of primary key in the query, also uncovered status appear in nested exceptions.

  18. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. (United States)

    Sloan-Heggen, Christina M; Bierer, Amanda O; Shearer, A Eliot; Kolbe, Diana L; Nishimura, Carla J; Frees, Kathy L; Ephraim, Sean S; Shibata, Seiji B; Booth, Kevin T; Campbell, Colleen A; Ranum, Paul T; Weaver, Amy E; Black-Ziegelbein, E Ann; Wang, Donghong; Azaiez, Hela; Smith, Richard J H


    Hearing loss is the most common sensory deficit in humans, affecting 1 in 500 newborns. Due to its genetic heterogeneity, comprehensive diagnostic testing has not previously been completed in a large multiethnic cohort. To determine the aggregate contribution inheritance makes to non-syndromic hearing loss, we performed comprehensive clinical genetic testing with targeted genomic enrichment and massively parallel sequencing on 1119 sequentially accrued patients. No patient was excluded based on phenotype, inheritance or previous testing. Testing resulted in identification of the underlying genetic cause for hearing loss in 440 patients (39%). Pathogenic variants were found in 49 genes and included missense variants (49%), large copy number changes (18%), small insertions and deletions (18%), nonsense variants (8%), splice-site alterations (6%), and promoter variants (hearing loss or when the loss was congenital and symmetric. The spectrum of implicated genes showed wide ethnic variability. These findings support the more efficient utilization of medical resources through the development of evidence-based algorithms for the diagnosis of hearing loss.

  19. Preliminary results of steel containment vessel model test

    Energy Technology Data Exchange (ETDEWEB)

    Luk, V.K.; Hessheimer, M.F. [Sandia National Labs., Albuquerque, NM (United States); Matsumoto, T.; Komine, K.; Arai, S. [Nuclear Power Engineering Corp., Tokyo (Japan); Costello, J.F. [Nuclear Regulatory Commission, Washington, DC (United States)


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

  20. Genetic diversity in migratory bats: Results from RADseq data for three tree bat species at an Ohio windfarm

    Directory of Open Access Journals (Sweden)

    Michael G. Sovic


    Full Text Available Genetic analyses can identify the scale at which wildlife species are impacted by human activities, and provide demographic information useful for management. Here, we use thousands of nuclear DNA genetic loci to assess whether genetic structure occurs within Lasiurus cinereus (Hoary Bat, L. borealis (Red Bat, and Lasionycteris noctivagans (Silver-Haired Bat bats found at a wind turbine site in Ohio, and to also estimate demographic parameters in each of these three groups. Our specific goals are to: 1 demonstrate the feasibility of isolating RADseq loci from these tree bat species, 2 test for genetic structure within each species, including any structure that may be associated with time (migration period, and 3 use coalescent-based modeling approaches to estimate genetically-effective population sizes and patterns of population size changes over evolutionary timescales. Thousands of loci were successfully genotyped for each species, demonstrating the value of RADseq for generating polymorphic loci for population genetic analyses in these bats. There was no evidence for genetic differentiation between groups of samples collected at different times throughout spring and fall migration, suggesting that individuals from each species found at the wind facility are from single panmictic populations. Estimates of present-day effective population sizes varied across species, but were consistently large, on the order of 105–106. All populations show evidence of expansions that date to the Pleistocene. These results, along with recent work also suggesting limited genetic structure in bats across North America, argue that additional biomarker systems such as stable-isotopes or trace elements should be investigated as alternative and/or complementary approaches to genetics for sourcing individuals collected at single wind farm sites.

  1. Analysis of genetic diversity of maize hybrids in the regional tests in Sichuan and Southwest China

    Institute of Scientific and Technical Information of China (English)


    In this study,analyses of phenotypic characters,SSR molecular markers and pedigrees were done to study the genetic diversity in 186 maize hybrids that were tested in regional trials in Sichuan and Southwest China.The results showed that there were differences in the variation coefficients of different characteristics,but all of the variation coefficients changed within a narrow range.Sixty pairs of simple sequence repeat (SSR) primer distributed on the ten chromosomes of maize produced stable amplified bands and 608 alleles were detected among the hybrids.The average number of alleles per locus was 10.1 ranging from 3 to 23.The values of polymorphism information content (PIC) for each SSR locus varied from 0.5179 to 0.9256 with an average of 0.7826.The genetic similarities of SSR marker pattern among the 186 hybrids ranged from 0.6067 to 0.9162,with an average of 0.7722.There were 16499 pairs of genetic similarity,in which 96.9% were 0.70000 to 0.9256.The cluster analysis showed that the hybrids could be classified into ten clusters,with 88.2% of the hybrids included in Cluster 4,Cluster 8 and Cluster 10.The analysis of pedigree sources of 51 hybrids showed that 36 hybrids had close genetic relationships with the hybrids developed by the Pioneer Company in the late 1980s and early 1990s in the United States,such as Y78599,Y7865 and Y78698,accounting for 70.58%.Meanwhile,13 hybrids had close genetic relationships with Y78599,accounting for 8.66%.The genetic similarities of SSR marker pattern among the 51 hybrids ranged from 0.66192 to 0.8799,with an average of 0.7686.There were 1196 pairs of genetic similarity ranged between 0.7000 to 0.8796,accounting for 93.80% of all the genetic similarity pairs.The cluster analysis showed that 88.2% of the 51 hybrids were in Cluster 4,Cluster 8 and Cluster 10,which indicated that similarity was high and genetic diversity narrow among the 186 hybrids.This showed that it is necessary to broaden the genetic basis of breeding

  2. Results of Lunar Rover Drivetrain TRL-6 Environmental Testing (United States)

    Visscher, P.; Edmundson, P.; Ghafoor, N.; Jones, H.; Kleinhenz, J.; Picard, M.


    Latest results of work performed by Ontario Drive and Gear Ltd., Canadensys Aerospace Corporation, and partners on Canadian lunar rover development activities for the Canadian Space Agency, including "dirty" thermal vacuum testing of drivetrain unit.

  3. Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome. (United States)

    Yang, Hang; Luo, Mingyao; Chen, Qianlong; Fu, Yuanyuan; Zhang, Jing; Qian, Xiangyang; Sun, Xiaogang; Fan, Yuxin; Zhou, Zhou; Chang, Qian


    Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder typically involving the ocular, skeletal and cardiovascular systems, and aortic aneurysms/dissection mainly contributes to its mortality. Here, we performed genetic testing of the FBN1 gene in 39 Chinese probands with Marfan/Marfan-like syndrome and their related family members by Sanger sequencing. In total, 29 pathogenic/likely pathogenic FBN1 mutations, including 17 novel ones, were identified. In addition, most MFS patients with aortic disease (62%) had a truncating or splicing mutation. These results expand the FBN1 mutation spectrum and enrich our knowledge of genotype-phenotype correlations. Genetic testing for MFS and its related aortic diseases is increasingly important for early intervention and treatment.

  4. Calibration of Results of Water Meter Test Facility


    Andrius Bončkus; Gediminas Gediminas


    The results of water meter test facility calibration are presented. More than 30 test facilities are used in Lithuania nowadays. All of them are certificated for water meter of class 2 verification. The results of inter-laboratory comparison of multi-jet water meter calibration at flow rate Q = 5 m3/h are presented. Lithuanian Energy Institute was appointed as reference laboratory for the comparison. Twelve water meter verification and calibration laboratories from Lithuania participated in t...

  5. Influence of diet on the results of laboratory tests

    Directory of Open Access Journals (Sweden)

    Kinga Lis


    Full Text Available Blood and urine laboratory tests are necessary to diagnose the state of the patient. These tests are also helpful in the assessment of diet and nutritional status of the organism. It is recommended that both blood and urine for laboratory tests be collected in the morning, from fasting patients after an overnight rest. These conditions are defined as the standard conditions for collection of material for laboratory testing. Before testing, patients should follow their natural diet and avoid physical exertion, night work, long-distance travel, as well as consumption of alcohol and drugs. They should also reduce the consumption of synthetic vitamins and herbal remedies and other dietary supplements. Medications should be limited to those that are absolutely necessary. All of these factors can affect the results of laboratory tests.

  6. The clinical utility of a positive antinuclear antibody test result. (United States)

    Abeles, Aryeh M; Abeles, Micha


    This retrospective study investigated the clinical utility of a positive antinuclear antibody (ANA) test performed outside of the rheumatology setting. Prior studies have investigated the frequency of ANA positivity within the general population. The purpose of this investigation was to evaluate the clinical utility of a positive ANA test result in a real-world setting by reviewing the final diagnoses of patients who were referred to a tertiary rheumatology clinic for evaluation of a positive ANA test result. We reviewed the records of patients presenting to the authors between July 2007 and July 2009. Patients were included in the evaluation if they were referred for a positive ANA test result. All relevant descriptive and laboratory data were collated, as were the initial reasons for ordering ANA testing and the ultimate diagnoses reached. Positive predictive values for a "positive ANA test result" were calculated for all antinuclear antibody-associated rheumatic diseases and for lupus specifically. A total of 232 patients were referred for a positive ANA test result. The positive predictive value of a positive ANA test result in this cohort was 2.1% for lupus and 9.1% for any antinuclear antibody-associated rheumatic disease. No antinuclear antibody-associated rheumatic disease was identified in patients with an ANAresult had no evidence for an ANA-associated rheumatic disease. The poor predictive value of a positive ANA in this cohort was largely attributable to unnecessary testing in patients with low pretest probabilities for ANA-associated rheumatic disease. Copyright © 2013 Elsevier Inc. All rights reserved.

  7. Consumers' cognitions with regard to genetically modified foods: Results of a qualitative study in four countries

    DEFF Research Database (Denmark)

    Bredahl, Lone


    -national differences, differences relating to different outcome groups considered, and differences relating to the presence or non-presence of genetically modified material in the end product. German and Danish results were generally more elaborate and revealed more complex cognitive structures than the results from...... Italy and the United Kingdom. In all four countries, however, genetic modification was associated with unnaturalness and low trustworthiness of the resulting product, independently of whether the genetically modified material was traceable in the product. Moral considerations were voiced as well...

  8. Genetic testing and Alzheimer disease: recommendations of the Stanford Program in Genomics, Ethics, and Society. (United States)

    McConnell, L M; Koenig, B A; Greely, H T; Raffin, T A


    Several genes associated with Alzheimer disease (AD) have been localized and cloned; two genetic tests are already commercially available, and new tests are being developed. Genetic testing for AD--either for disease prediction or for diagnosis--raises critical ethical concerns. The multidisciplinary Alzheimer Disease Working Group of the Stanford Program in Genomics, Ethics, and Society (PGES) presents comprehensive recommendations on genetic testing for AD. The Group concludes that under current conditions, genetic testing for AD prediction or diagnosis is only rarely appropriate. Criteria for judging the readiness of a test for introduction into routine clinical practice typically rely heavily on evaluation of technical efficacy. PGES recommends a broader and more comprehensive approach, considering: 1) the unique social and historical meanings of AD; 2) the availability of procedures to promote good surrogate decision making for incompetent patients and to safeguard confidentiality; 3) access to sophisticated genetic counselors able to communicate complex risk information and effectively convey the social costs and psychological burdens of testing, such as unintentional disclosure of predictive genetic information to family members; 4) protection from inappropriate advertising and marketing of genetic tests; and 5) recognition of the need for public education about the meaning and usefulness of predictive and diagnostic tests for AD. In this special issue of Genetic Testing, the PGES recommendations are published along with comprehensive background papers authored by Working Group members.

  9. Congenital syphilis in neonates with nonreactive nontreponemal test results. (United States)

    Wozniak, P S; Cantey, J B; Zeray, F; Leos, N K; Sheffield, J S; Wendel, G D; Sánchez, P J


    Infants whose mothers had syphilis during pregnancy were studied to determine how often exposed newborns with normal physical examinations and nonreactive nontreponemal serologic tests had abnormal laboratory or radiographic studies. Retrospective analysis of prospectively collected data from infants born to mothers with syphilis and had a normal examination and a nonreactive nontreponemal test. Some infants had IgM immunoblotting, PCR testing or rabbit infectivity testing (RIT) performed. From 1984 to 2002, 115 infants had a nonreactive serum Venereal Disease Research Laboratory (VDRL)/rapid plasma reagin (RPR) test and a normal physical examination at birth. Among 87 infants born to mothers who had untreated syphilis, 4 had a positive serum IgM immunoblot or PCR test, but none had spirochetes recovered by RIT. Two infants had anemia, one had an elevated serum alanine aminotransferase concentration and one with Down's syndrome had direct hyperbilirubinemia. Among 14 infants born to mothers treated laboratory or radiographic tests, although 1 of 11 had a reactive serum IgM immunoblot. Among 14 infants born to mothers treated ⩾4 weeks before delivery, none had abnormal laboratory or radiographic tests. Newborns with normal physical examination and nonreactive nontreponemal test results are unlikely to have abnormalities detected on conventional laboratory and radiographic testing.Journal of Perinatology advance online publication, 6 July 2017; doi:10.1038/jp.2017.103.

  10. Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis

    Directory of Open Access Journals (Sweden)

    Michael Castro


    Full Text Available Background: Synchronous cancers have occasionally been detected at initial diagnosis among patients with breast and ovarian cancer. However, simultaneous coexistence and diagnosis of breast and pancreas cancer has not previously been reported. Case Report: Paternal transmission of a germline BRCA2 mutation to a patient who was diagnosed at age 40 with locally advanced breast and pancreas cancer is presented. Somatic genomic analysis of both cancers with next-generation DNA sequencing confirmed the germline result and reported a variety of variants of unknown significance alterations, of which two were present in both the breast and pancreas cancers. Discussion: The possibility that genomic alterations could have been responsible for modulating the phenotypic or clinical expression of this rare presentation is considered. The authors call attention to the practice of privatizing the clinicogenetic information gained from genetic testing and call for health policy that will facilitate sharing in order to advance the outcomes of patients diagnosed with hereditary cancers.

  11. Results from the Astronomy Diagnostic Test National Project (United States)

    Deming, G. L.


    During 2000 and 2001, the validity and reliability of the Astronomy Diagnostic Test Version 2.0 (ADT 2.0) were formally investigated through the Astronomy Diagnostic Test National Project. The ADT 2.0 was administered as a pre-test to 5346 students and as a post-test to 3842 students. Student test results were collected from 97 classes that ranged in size from 4 to 320 students with 30 states represented. The 68 professors participating in the ADT National Project taught classes at universities (54%), 4-year colleges (27%), and 2-year colleges (19%). The database was analyzed for reliability at the Ontario Institute for Studies in Education. A pre-test value for Cronbach's alpha of 0.65 and post-test value of 0.76 demonstrate an acceptable degree of internal consistency. The average score for the 44 participating professors who completed the ADT as experts was 98%. Face and content validity were established by combining results from the experts with feedback from 60 student interviews. Student results from the National Project yielded an average score of 32.4% for the pre-test and 47.3% for the post-test. There is a gender discrepancy in favor of males that persists in both the pre-test (11% points) and the post-test (12% points) scores. The variations across geographic distribution and institution types were not significant. In addition to the 21 content items, the ADT 2.0 has 12 student background questions enabling instructors to have a better understanding of who takes introductory astronomy. This research was supported by the National Science Foundation through grants REC-0089239 (GD) and DGE-9714489 (BH).

  12. A report on the psychological test results of battering parents. (United States)

    Hyman, C A


    The short form of the Wechsler Adult Intelligence Scale and Cattell's 16PF test have been given to patients attending the National Advisory Centre on the Battered Child (NSPCC) and in the case of the personality questionnaire the results compared to non-battering control adults' scores. The intelligence levels of battering parents conform to normal expectation although there is a non-significant trend to marginally lower than normal results especially in verbal tests. The 16PF test reveals immature impetuosity on the part of the mothers as a main finding and introversion in the fathers. The relevance of these findings to battering is discussed.

  13. A social network analysis of communication about hereditary nonpolyposis colorectal cancer genetic testing and family functioning. (United States)

    Koehly, Laura M; Peterson, Susan K; Watts, Beatty G; Kempf, Kari K G; Vernon, Sally W; Gritz, Ellen R


    Hereditary cancers are relational diseases. A primary focus of research in the past has been the biological relations that exist within the families and how genes are passed along family lines. However, hereditary cancers are relational in a psychosocial sense, as well. They can impact communication relationships within a family, as well as support relationships among family members. Furthermore, the familial culture can affect an individual's participation in genetic counseling and testing endeavors. Our aims are (a) to describe the composition of familial networks, (b) to characterize the patterns of family functioning within families, (c) to analyze how these patterns relate to communications about genetic counseling and testing among family members, and (d) to identify influential family members. Specifically, we asked how the relationship between mutation status, kinship ties, and family functioning constructs, e.g., communication, cohesion, affective involvement, leadership, and conflict, was associated with discussions about genetic counseling and testing. We used social network analysis and random graph techniques to examine 783 dyadic relationships in 36 members of 5 hereditary nonpolyposis colorectal cancer (HNPCC) families interviewed from 1999-2000. Results suggest that in these five HNPCC families, two family members are more likely to discuss genetic counseling and testing if either one carries the mutation, if either one is a spouse or a first-degree relative of the other, or if the relationship is defined by positive cohesion, leadership, or lack of conflict. Furthermore, the family functioning patterns suggest that mothers tend to be the most influential persons in the family network. Results of this study suggest encouraging family members who act in the mother role to take a "team approach" with the family proband when discussing HNPCC risks and management with family members.

  14. Autism genetic testing: a qualitative study of awareness, attitudes, and experiences among parents of children with autism spectrum disorders. (United States)

    Chen, Lei-Shih; Xu, Lei; Huang, Tse-Yang; Dhar, Shweta U


    The goal of this first-of-its-kind qualitative study was to examine the awareness, attitudes, and experiences among parents of autistic children regarding autism genetic testing. We conducted in-depth, individual, and semistructured interviews with 42 parents of autistic children with diverse racial/ethnic backgrounds. All interviews were audio-taped, transcribed, and coded into major themes and subthemes. Approximately one-quarter of participants had two or more autistic children, and about half of them were ethnic/racial minorities. The majority of participants postulated favorable attitudes toward autism genetic testing for three main reasons: early intervention and treatment, identifying the etiology of autism, and informed family planning. Nevertheless, among parents who had taken their children for genetic testing, some expressed frustration and questioned the competency of their providers in interpreting test results. Asian parents and those with a low socioeconomic status expressed lower awareness and tended to have more limited access to autism genetic testing. As health-care providers play a vital role in providing genetic services and education, these professionals should be educated and be sensitive to the needs of parents with autistic children. Further quantitative research is required to examine the effects of socio-demographic factors on parents' awareness, attitudes, and experiences regarding autism genetic testing.

  15. Assessment of Galileo modal test results for mathematical model verification (United States)

    Trubert, M.


    The modal test program for the Galileo Spacecraft was completed at the Jet Propulsion Laboratory in the summer of 1983. The multiple sine dwell method was used for the baseline test. The Galileo Spacecraft is a rather complex 2433 kg structure made of a central core on which seven major appendages representing 30 percent of the total mass are attached, resulting in a high modal density structure. The test revealed a strong nonlinearity in several major modes. This nonlinearity discovered in the course of the test necessitated running additional tests at the unusually high response levels of up to about 21 g. The high levels of response were required to obtain a model verification valid at the level of loads for which the spacecraft was designed. Because of the high modal density and the nonlinearity, correlation between the dynamic mathematical model and the test results becomes a difficult task. Significant changes in the pre-test analytical model are necessary to establish confidence in the upgraded analytical model used for the final load verification. This verification, using a test verified model, is required by NASA to fly the Galileo Spacecraft on the Shuttle/Centaur launch vehicle in 1986.

  16. Uprated OMS Engine Status-Sea Level Testing Results (United States)

    Bertolino, J. D.; Boyd, W. C.


    The current Space Shuttle Orbital Maneuvering Engine (OME) is pressure fed, utilizing storable propellants. Performance uprating of this engine, through the use of a gas generator driven turbopump to increase operating pressure, is being pursued by the NASA Johnson Space Center (JSC). Component level design, fabrication, and test activities for this engine system have been on-going since 1984. More recently, a complete engine designated the Integrated Component Test Bed (ICTB), was tested at sea level conditions by Aerojet. A description of the test hardware and results of the sea level test program are presented. These results, which include the test condition operating envelope and projected performance at altitude conditions, confirm the capability of the selected Uprated OME (UOME) configuration to meet or exceed performance and operational requirements. Engine flexibility, demonstrated through testing at two different operational mixture ratios, along with a summary of projected Space Shuttle performance enhancements using the UOME, are discussed. Planned future activities, including ICTB tests at simulated altitude conditions, and recommendations for further engine development, are also discussed.

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


    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.

  18. Importance of genetic evaluation and testing in pediatric cardiomyopathy (United States)

    Tariq, Muhammad; Ware, Stephanie M


    Pediatric cardiomyopathies are clinically heterogeneous heart muscle disorders that are responsible for significant morbidity and mortality. Phenotypes include hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, left ventricular noncompaction and arrhythmogenic right ventricular cardiomyopathy. There is substantial evidence for a genetic contribution to pediatric cardiomyopathy. To date, more than 100 genes have been implicated in cardiomyopathy, but comprehensive genetic diagnosis has been problematic because of the large number of genes, the private nature of mutations, and difficulties in interpreting novel rare variants. This review will focus on current knowledge on the genetic etiologies of pediatric cardiomyopathy and their diagnostic relevance in clinical settings. Recent developments in sequencing technologies are greatly impacting the pace of gene discovery and clinical diagnosis. Understanding the genetic basis for pediatric cardiomyopathy and establishing genotype-phenotype correlations may help delineate the molecular and cellular events necessary to identify potential novel therapeutic targets for heart muscle dysfunction in children. PMID:25429328

  19. Importance of genetic evaluation and testing in pediatric cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    Muhammad; Tariq; Stephanie; M; Ware


    Pediatric cardiomyopathies are clinically heterogeneous heart muscle disorders that are responsible for significant morbidity and mortality. Phenotypes include hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, left ventricular noncompaction and arrhythmogenic right ventricular cardiomyopathy. There is substantial evidence for a genetic contribution to pediatric cardiomyopathy. To date, more than 100 genes have been implicated in cardiomyopathy, but comprehensive genetic diagnosis has been problematic because of the large number of genes, the private nature of mutations, and difficulties in interpreting novel rare variants. This review will focus on current knowledge on the genetic etiologies of pediatric cardiomyopathy and their diagnostic relevance in clinical settings. Recent developments in sequencing technologies are greatly impacting the pace of gene discovery and clinical diagnosis. Understanding the genetic basis for pediatric cardiomyopathy and establishing genotypephenotype correlations may help delineate the molecular and cellular events necessary to identify potential novel therapeutic targets for heart muscle dysfunction in children.

  20. Measurement of ability emotional intelligence: results for two new tests. (United States)

    Austin, Elizabeth J


    Emotional intelligence (EI) has attracted considerable interest amongst both individual differences researchers and those in other areas of psychology who are interested in how EI relates to criteria such as well-being and career success. Both trait (self-report) and ability EI measures have been developed; the focus of this paper is on ability EI. The associations of two new ability EI tests with psychometric intelligence, emotion perception, and the Mayer-Salovey-Caruso EI test (MSCEIT) were examined. The new EI tests were the Situational Test of Emotion Management (STEM) and the Situational Test of Emotional Understanding (STEU). Only the STEU and the MSCEIT Understanding Emotions branch were significantly correlated with psychometric intelligence, suggesting that only understanding emotions can be regarded as a candidate new intelligence component. These understanding emotions tests were also positively correlated with emotion perception tests, and STEM and STEU scores were positively correlated with MSCEIT total score and most branch scores. Neither the STEM nor the STEU were significantly correlated with trait EI tests, confirming the distinctness of trait and ability EI. Taking the present results as a starting-point, approaches to the development of new ability EI tests and models of EI are suggested.

  1. Personalized Genetic Testing as a Tool for Integrating Ethics Instruction into Biology Courses

    Directory of Open Access Journals (Sweden)

    Tenny R. Zhang


    Full Text Available Personalized genetic testing (PGT has been used by some educational institutions as a pedagogical tool for teaching human genetics. While work has been done that examines the potential for PGT to improve students’ interest and understanding of the science involved in genetic testing, there has been less dialogue about how this method might be useful for integrating ethical and societal issues surrounding genetic testing into classroom discussions. Citing the importance of integrating ethics into the biology classroom, we argue that PGT can be an effective educational tool for integrating ethics and science education, and discuss relevant ethical considerations for instructors using this approach. 

  2. Testing Result Statistics-Based Rapid Testing Method for Safety-Critical System

    Institute of Scientific and Technical Information of China (English)

    Zhi-Yao Deng; Nan Sang


    Safety-critical system (SCS) has highly demand for dependability, which requires plenty of resource to ensure that the system under test (SUT) satisfies the dependability requirement. In this paper, a new SCS rapid testing method is proposed to improve SCS adaptive dependability testing. The result of each test execution is saved in calculation memory unit and evaluated as an algorithm model. Then the least quantity of scenario test case for next test execution will be calculated according to the promised SUT's confidence level. The feedback data are generated to weight controller as the guideline for the further testing. Finally, a compre- hensive experiment study demonstrates that this adaptive testing method can really work in practice. This rapid testing method, testing result statistics-based adaptive control, makes the SCS dependability testing much more effective.

  3. Knowledge and attitudes towards genetic testing: a two year follow-up study in patients with asthma, diabetes mellitus and cardiovascular disease. (United States)

    Calsbeek, Hiske; Morren, Mattijn; Bensing, Jozien; Rijken, Mieke


    Adequate knowledge and personal attitudes towards DNA-testing are major determinants of optimal utilization of genetic testing. This study aims to (1) assess the genetic knowledge and attitude towards genetic testing of patients with asthma, diabetes mellitus type II and cardiovascular diseases, (2) determine whether their knowledge or attitude changed since 2002, and (3) investigate the predictive role of knowledge on attitude. Data were collected within the Panel of Patients with Chronic Diseases in 2002 and 2004, resulting in 398 data-pairs. Results show that factual knowledge mainly relates to associations between genes and diseases, less is known on associations between genes, chromosomes, cells and body. The perceived knowledge on DNA-testing has not increased since 2002. The attitude towards genetic testing also appeared to be rather consistent. Less perceived medical genetic knowledge and more perceived social genetic knowledge were found predictive for a more reserved attitude towards genetic testing. In conclusion, advanced developments in the field of genetics are not accompanied by increased knowledge of patients with common multi-factorial diseases. The finding that more perceived social genetic knowledge results in more reluctance can be considered an indicator for the necessity of social debates on genetic testing.

  4. Changes over time in milk test results following pancreatectomy

    Institute of Scientific and Technical Information of China (English)

    Hideki Aoki; Masashi Utsumi; Kenta Sui; Nobuhiko Kanaya; Tomoyoshi Kunitomo; Hitoshi Takeuchi; Norihisa Takakura; Shigehiro Shiozaki; Hiroyoshi Matsukawa


    AIM: To investigate changes over time in, and effects of sealing technology on, milk test results following pancreatectomy. METHODS: From April 2008 to October 2013, 66 pancreatic resections were performed at the Iwakuni Clinical Center. The milk test has been routinely conducted at the institute whenever possible during pancreatectomy. The milk test comprises the following procedure: A nasogastric tube is inserted until the third portion of the duodenum, followed by injection of 100 mL of milk through the tube. If a chyle leak is present, the patient tests positive in this milk test based on the observation of a white milky discharge. Positive milk test rates, leakage sites, and chylous ascites incidence were examined. Liga Sure?(LS; Covidien, Dublin, Ireland), a vessel-sealing device, is routinely used in pancreatectomy. Positive milk test rates before and after use of LS, as well as drain discharge volume at the 2nd and 3rd postoperative days, were compared retrospectively. Finally, positive milk test rates and chylous ascites incidence were compared with the results of a previous report.RESULTS: Fifty-nine milk tests were conducted during pancreatectomy. The positive milk test rate for all pancreatectomy cases was 13.6%(8 of 59 cases). One case developed postoperative chylous ascites(2.1% among the pancreatoduedenectomy cases and 1.7% among all pancreatectomies). Positive rates by procedure were 12.8% for pancreatoduodenectomy and 22.2% for distal pancreatectomy. Positive rates by disease were 17.9% for pancreatic and 5.9% for biliary diseases. When comparing results from before and after use of LS, positive milk test rates in pancreatoduodenectomy were 13.0% before and 12.5% after, while those in distal pancreatectomy were 33.3% and 0%. Drainage volume tended to decrease when LS was used on the 3rd postoperative day(volumes were 424 ± 303 mL before LS and 285 ± 185 mL after, P = 0.056). Both chylous ascites incidence and positive milk test

  5. Cold vacuum drying proof of performance (first article testing) test results

    Energy Technology Data Exchange (ETDEWEB)



    This report presents and details the test results of the first of a kind process referred to as Cold Vacuum Drying (CVD). The test results are compiled from several months of testing of the first process equipment skid and ancillary components to de-water and dry Multi-Canister Overpacks (MCO) filled with Spent Nuclear Fuel (SNF). The tests results provide design verifications, equipment validations, model validation data, and establish process parameters.

  6. RF Test Results from Cryomodule 1 at the Fermilab SRF Beam Test Facility

    CERN Document Server

    Harms, E; Chase, B; Cullerton, E; Hocker, A; Jensen, C; Joireman, P; Klebaner, A; Kubicki, T; Kucera, M; Legan, A; Leibfritz, J; Martinez, A; McGee, M; Nagaitsev, S; Nezhevenko, O; Nicklaus, D; Pfeffer, H; Pischalnikov, Y; Prieto, P; Reid, J; Schappert, W; Tupikov, V; Varghese, P; Branlard, J


    Powered operation of Cryomodule 1 (CM-1) at the Fermilab SRF Beam Test Facility began in late 2010. Since then a series of tests first on the eight individual cavities and then the full cryomodule have been performed. We report on the results of these tests and lessons learned which will have an impact on future module testing at Fermilab.

  7. Survey on Knowledge, Attitudes, and Training Needs of Italian Residents on Genetic Tests for Hereditary Breast and Colorectal Cancer

    Directory of Open Access Journals (Sweden)

    Nikola Panic


    Full Text Available Objectives. The aim of the study was to assess knowledge and attitudes of medical residents working in Università Cattolica del Sacro Cuore, Rome, Italy, on genetic tests for breast and colorectal cancer. Methods. We distributed self-administered questionnaire to the residents. Logistic regression models were used to evaluate the determinants of knowledge and attitudes towards the tests. Results. Of 754 residents, 364 filled in questionnaire. Around 70% and 20% answered correctly >80% of questions on breast and colorectal cancer tests, respectively. Knowledge on tests for breast cancer was higher among residents who attended course on cancer genetic testing during graduate training (odds ratio (OR: 1.72; 95% confidence interval (CI: 1.05–2.82 and inversely associated with male gender (OR: 0.55; 95% CI: 0.35–0.87. As for colorectal cancer, residents were more knowledgeable if they attended courses on cancer genetic testing (OR: 2.08; 95% CI: 1.07–4.03 or postgraduate training courses in epidemiology and evidence-based medicine (OR: 1.95; 95% CI: 1.03–3.69. More than 70% asked for the additional training on the genetic tests for cancer during the specialization school. Conclusion. The knowledge of Italian residents on genetic tests for colorectal cancer appears to be insufficient. There is a need for additional training in this field.

  8. Psychological responses to genetic testing for weight gain: a vignette study. (United States)

    Meisel, Susanne F; Walker, Catherine; Wardle, Jane


    Genetic testing for obesity risk is increasingly available to the public but few studies have examined motivational or affective reactions. Here we report findings from a "vignette" study investigating reactions to "higher-risk" and "average-risk" results for the obesity-related FTO gene in two groups: a panel sample of individuals with weight concerns, for whom testing may have treatment implications (n = 306, mean age = 45 years, mean BMI = 35) and a student sample (n = 395, mean age = 25 years, mean BMI = 23), for whom testing would have implications for obesity prevention. Participants were given FTO gene information that described higher-risk alleles as linked with modest weight gain and slightly higher risk of obesity. They responded to both higher- and average-risk vignettes, with order randomized. Interest in genetic testing was high overall, and higher in panel respondents than students (93% vs. 78% would "probably" or "definitely" have the test; P testing has the potential to be a useful clinical or preventive tool when combined with appropriate information.

  9. Proposed Interventions to Decrease the Frequency of Missed Test Results (United States)

    Wahls, Terry L.; Cram, Peter


    Numerous studies have identified that delays in diagnosis related to the mishandling of abnormal test results are an import contributor to diagnostic errors. Factors contributing to missed results included organizational factors, provider factors and patient-related factors. At the diagnosis error conference continuing medical education conference…

  10. TEG® and ROTEM® in trauma: similar test but different results?

    Directory of Open Access Journals (Sweden)

    Sankarankutty Ajith


    Full Text Available Abstract Introduction Transfusion in trauma is often empiric or based on traditional lab tests. Viscoelastic tests such as thromboelastography (TEG® and rotational thromboelastometry (ROTEM® have been proposed as superior to traditional lab tests. Due to the similarities between the two tests, general opinion seems to consider them equivalent with interchangeable interpretations. However, it is not clear whether the results can be similarly interpreted. This review evaluates the comparability between TEG and ROTEM and performs a descriptive review of the parameters utilized in each test in adult trauma patients. Methods PUBMED database was reviewed using the keywords “thromboelastography” and “compare”, between 2000 and 2011. Original studies directly comparing TEG® with ROTEM® in any area were retrieved. To verify the individual test parameter used in studies involving trauma patients, we further performed a review using the keywords “thromboelastography” and “trauma” in the PUBMED database. Results Only 4 studies directly compared TEG® with ROTEM®. One in liver transplantation found that transfusion practice could differ depending on the device in use. Another in cardiac surgery concluded that all measurements are not completely interchangeable. The third article using commercially available plasma detected clinically significant differences in the results from the two devices. The fourth one was a head-to-head comparison of the technical aspects. The 24 articles reporting the use of viscoelastic tests in trauma patients, presented considerable heterogeneity. Conclusion Both tests are potentially useful as means to rapidly diagnose coagulopathy, guide transfusion and determine outcome in trauma patients. Differences in the activators utilized in each device limit the direct comparability. Standardization and robust clinical trials comparing the two technologies are needed before these tests can be widely recommended for

  11. Tensile and fracture toughness test results of neutron irradiated beryllium

    Energy Technology Data Exchange (ETDEWEB)

    Chaouadi, R.; Moons, F.; Puzzolante, J.L. [Centre d`Etude de l`Energie Nucleaire, Mol (Belgium)


    Tensile and fracture toughness test results of four Beryllium grades are reported here. The flow and fracture properties are investigated by using small size tensile and round compact tension specimens. Irradiation was performed at the BR2 material testing reactor which allows various temperature and irradiation conditions. The fast neutron fluence (>1 MeV) ranges between 0.65 and 2.45 10{sup 21} n/cm{sup 2}. In the meantime, un-irradiated specimens were aged at the irradiation temperatures to separate if any the effect of temperature from irradiation damage. Test results are analyzed and discussed, in particular in terms of the effects of material grade, test temperature, thermal ageing and neutron irradiation. (author)

  12. Steel Containment Vessel Model Test: Results and Evaluation

    Energy Technology Data Exchange (ETDEWEB)

    Costello, J.F.; Hashimote, T.; Hessheimer, M.F.; Luk, V.K.


    A high pressure test of the steel containment vessel (SCV) model was conducted on December 11-12, 1996 at Sandia National Laboratories, Albuquerque, NM, USA. The test model is a mixed-scaled model (1:10 in geometry and 1:4 in shell thickness) of an improved Mark II boiling water reactor (BWR) containment. A concentric steel contact structure (CS), installed over the SCV model and separated at a nominally uniform distance from it, provided a simplified representation of a reactor shield building in the actual plant. The SCV model and contact structure were instrumented with strain gages and displacement transducers to record the deformation behavior of the SCV model during the high pressure test. This paper summarizes the conduct and the results of the high pressure test and discusses the posttest metallurgical evaluation results on specimens removed from the SCV model.


    Directory of Open Access Journals (Sweden)

    Golubev Stanislav Sergeevich


    Full Text Available Results of thermal tests of balcony doors are presented in the article. In the course of the research project, two types of doors were tested. The first type represents a PVC frame door (width 82 mm; it has a triple glazing (4K-16Ar-4-16Ar-K4; its blank part represents a polystyrene sandwich panel (width 40 mm. The second type represents a PVC frame door (width 82 mm, that has a triple glazing (4K-16Ar-4-16Ar-K4 and composite PVC panels. The testing procedure and processing results are described in the article. The test has demonstrated that the thermal resistance value of the balcony door of the first type exceeds the thermal resistance value of the balcony door of the second type.

  14. Wellbore inertial navigation system (WINS) software development and test results

    Energy Technology Data Exchange (ETDEWEB)

    Wardlaw, R. Jr.


    The structure and operation of the real-time software developed for the Wellbore Inertial Navigation System (WINS) application are described. The procedure and results of a field test held in a 7000-ft well in the Nevada Test Site are discussed. Calibration and instrumentation error compensation are outlined, as are design improvement areas requiring further test and development. Notes on Kalman filtering and complete program listings of the real-time software are included in the Appendices. Reference is made to a companion document which describes the downhole instrumentation package.

  15. The Role of the Family in Genetic Testing: Theoretical Perspectives, Current Knowledge, and Future Directions (United States)

    Peterson, Susan K.


    This article addresses conceptual challenges and theoretical approaches for examining the role of the family in responding and adapting to genetic testing for inherited conditions. Using a family systems perspective, family-based constructs that are relevant to genetic testing may be organized into three domains: family communication, organization…

  16. Limitations of direct-to-consumer advertising for clinical genetic testing. (United States)

    Gollust, Sarah E; Hull, Sara Chandros; Wilfond, Benjamin S


    Although direct-to-consumer (DTC) advertisements for pharmaceuticals have been appearing in the mass media for 20 years, DTC advertisements for genetic testing have only recently appeared. Advertisements for genetic testing can provide both consumers and physicians with information about test availability in an expanding market. However, 3 factors limit the value and appropriateness of advertisements: complex information, a complicated social context surrounding genetics, and a lack of consensus about the clinical utility of some tests. Consideration of several advertisements suggests that they overstate the value of genetic testing for consumers' clinical care. Furthermore, advertisements may provide misinformation about genetics, exaggerate consumers' risks, endorse a deterministic relationship between genes and disease, and reinforce associations between diseases and ethnic groups. Advertising motivated by factors other than evidence of the clinical value of genetic tests can manipulate consumers' behavior by exploiting their fears and worries. At this time, DTC advertisements are inappropriate, given the public's limited sophistication regarding genetics and the lack of comprehensive premarket review of tests or oversight of advertisement content. Existing Federal Trade Commission and Food and Drug Administration regulations for other types of health-related advertising should be applied to advertisements for genetic tests.

  17. Physical separations soil washing system cold test results

    Energy Technology Data Exchange (ETDEWEB)

    McGuire, J.P.


    This test summary describes the objectives, methodology, and results of a physical separations soil-washing system setup and shakedown test using uncontaminated soil. The test is being conducted in preparation for a treatability test to be conducted in the North Pond of the 300-FF-1 Operable Unit. It will be used to assess the feasibility of using a physical separations process to reduce the volume of contaminated soils in the 300-FF-1 Operable Unit. The test is described in DOE-RL (1993). The setup test was conducted at an uncontrolled area located approximately 3.2 km northwest of the 300-FF-1 Operable Unit. The material processed was free of contamination. The physical separation equipment to be used in the test was transferred to the US Department of Energy (DOE) by the US Environmental Protection Agency (EPA) Risk Reduction Engineering Laboratory. On May 13, 1993, soil-washing equipment was moved to the cold test location. Design assistance and recommendation for operation was provided by the EPA.

  18. Thermal Analysis of Low Layer Density Multilayer Insulation Test Results (United States)

    Johnson, Wesley L.


    Investigation of the thermal performance of low layer density multilayer insulations is important for designing long-duration space exploration missions involving the storage of cryogenic propellants. Theoretical calculations show an analytical optimal layer density, as widely reported in the literature. However, the appropriate test data by which to evaluate these calculations have been only recently obtained. As part of a recent research project, NASA procured several multilayer insulation test coupons for calorimeter testing. These coupons were configured to allow for the layer density to be varied from 0.5 to 2.6 layer/mm. The coupon testing was completed using the cylindrical Cryostat-l00 apparatus by the Cryogenics Test Laboratory at Kennedy Space Center. The results show the properties of the insulation as a function of layer density for multiple points. Overlaying these new results with data from the literature reveals a minimum layer density; however, the value is higher than predicted. Additionally, the data show that the transition region between high vacuum and no vacuum is dependent on the spacing of the reflective layers. Historically this spacing has not been taken into account as thermal performance was calculated as a function of pressure and temperature only; however the recent testing shows that the data is dependent on the Knudsen number which takes into account pressure, temperature, and layer spacing. These results aid in the understanding of the performance parameters of MLI and help to complete the body of literature on the topic.

  19. [Current situation and ethical-social issues of pediatric genetic testing]. (United States)

    Yamamoto, Toshiyuki


    Many pediatric neurological disorders are caused by genetic factors. Therefore, genetic testing is often required for final diagnosis, prognosis prediction, and genetic counseling. Prior to performing genetic research, pediatric neurologists must obtain the approval of the Institutional Review Board. Moreover, according to the "Ethical Guidelines for Human Genome/Gene Analysis Research," anonymity of patient samples must be maintained. Although the guideline for genetic research are not generally applied for genetic testing in routine bedside medical care, the guideline adopted by the Japan Medical Association must be followed, because genetic information from a personal genome is patient-specific. Pediatric neurologists must also be aware of the policies adopted to obtain informed consent from children and patients who are incapable of making their own decisions. They should develop a strategy for collaboration with clinical geneticists and for making a prenatal diagnosis.

  20. Usefulness of Genetic Testing in PD and PD Trials: A Balanced Review. (United States)

    Gasser, Thomas


    An increasing proportion of the individual and population risk to develop Parkinson's disease (PD) can be explained by genetic variants of different effect strength, forming a continuum from rare high penetrance gain or loss of function mutations to relatively common genetic risk variants that only mildly modify disease risk. In the coming years, further advances in molecular genetic technologies, in particular the increasing use of next generation sequencing, is likely to generate a wealth of new knowledge about the genetic basis of PD. Although specific treatments for PD based on the underlying genetic etiology will probably not be available in the near future, genetic testing is therefore likely to play an increasing role, both in the counselling of individual patients and their families with respect to the expected disease course and recurrence risks, and in the stratification of patient groups in clinical trials. Thus, the usefulness of genetic testing strongly depends on question asked and needs to be considered within each particular setting.

  1. Cost-effectiveness of a genetic test for breast cancer risk. (United States)

    Folse, Henry J; Green, Linda E; Kress, Andrea; Allman, Richard; Dinh, Tuan A


    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.

  2. Patch Test Results in Patients with Allergic Contact Dermatitis / Mucositis

    Directory of Open Access Journals (Sweden)

    Özlem Su


    Full Text Available Background and Design: The aims of our study were to determine the frequency of positive patch reactions and the most common allergens in patients with allergic contact dermatitis (ACD and/or mucositis(M who underwent with T.R.U.E. “Thin-layer Rapid-Use Epicutaneous” test and evaluate supplemantal series used with T.R.U.E. test effect on patch test results.Material and Method: In this study 161 ACD, 5 ACM, 1 ACD and ACM were enrolled. While 139 of all patients were patch tested with T.R.U.E. test alone,out of 28 patients were tested for T.R.U.E. test and also with supplemental series that included textile colours (9 of tested patients, plastic and glues (9, dental screening (6, backery (2, cosmetic (1 and plastic and glues and dental screening (1. Supplemental series were chosen according to patient’s occupation and clinic presentation. The data from our patients were analyzed as percentage. The relationship between contact sensitization and atopic status was evaluated with Yate’s correlation x2 test.Results: Eighty-six male, 81 female were taken into this study. The median age was 36.5.While 25.9% of 139 patients tested with T.R.U.E. test alone,46.4% of 28 patients applied supplemental series in addition to T.R.U.E. test showed positive reaction to one or more allergens. The most common allergens were nickel sulphate (14.4%, potassium dichromate (4.8%, fragrance mix (2.9% and colophony (2.9%. The most common supplemental allergens were octil gallat (50% in bakery and copper sulphate, goldsodiumthiosulphate (42.8% in dental screening. Positive patch reactions were detected 83.3% in 6 patients with AKM, 80% of these positive reactions was againts dental screening. The rate of contact sensitization between atopics and non-atopics was not significant (p>0.05. Conclusion: We suggest in presence of mucositis and/or occupational dermatoses using supplemental series in addition to T.R.U.E. test would be more beneficial in identifing the

  3. Direct-to-consumer Genetic Testing: Changes in the EU Regulatory Landscape. (United States)

    Slokenberga, Santa


    Rapid advances in genomics and technology have rendered genetic testing services easily accessible to consumers over the Internet in the form of direct-to-consumer genetic testing. In the EU, the IVD Directive has been animadverted for its inability to tackle the challenges direct-to-consumer genetic testing has posed. Currently, the EU legislation is in a transition state. It is thus, timely to assess, to what extent the proposed IVD Regulation is intended to address the performance requirements and utility of direct-to-consumer genetic tests, which are made available to consumers within the EU over the Internet, and discuss the developments vis-à-vis the IVD Directive. To compare with the IVD Directive, the IVD Regulation presents a major shift in how direct-to-consumer genetic testing is treated in the E U. It remains unclear, whether and how the EU requirements can be applied beyond the EU market.

  4. Compendium of Test Results of Recent Single Event Effect Tests Conducted by the Jet Propulsion Laboratory (United States)

    McClure, Steven S.; Allen, Gregory R.; Irom, Farokh; Scheick, Leif Z.; Adell, Philippe C.; Miyahira, Tetsuo F.


    This paper reports heavy ion and proton-induced single event effect (SEE) results from recent tests for a variety of microelectronic devices. The compendium covers devices tested over the last two years by the Jet Propulsion Laboratory.

  5. Evaluation of the screening test results before marriage

    Directory of Open Access Journals (Sweden)

    Süleyman Durmaz


    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.

  6. Small-Scale Spray Releases: Initial Aerosol Test Results

    Energy Technology Data Exchange (ETDEWEB)

    Mahoney, Lenna A.; Gauglitz, Phillip A.; Kimura, Marcia L.; Brown, Garrett N.; Kurath, Dean E.; Buchmiller, William C.; Smith, Dennese M.; Blanchard, Jeremy; Song, Chen; Daniel, Richard C.; Wells, Beric E.; Tran, Diana N.; Burns, Carolyn A.


    One of the events postulated in the hazard analysis at the Waste Treatment and Immobilization Plant (WTP) and other U.S. Department of Energy (DOE) nuclear facilities is a breach in process piping that produces aerosols with droplet sizes in the respirable range. The current approach for predicting the size and concentration of aerosols produced in a spray leak involves extrapolating from correlations reported in the literature. These correlations are based on results obtained from small engineered spray nozzles using pure liquids with Newtonian fluid behavior. The narrow ranges of physical properties on which the correlations are based do not cover the wide range of slurries and viscous materials that will be processed in the WTP and across processing facilities in the DOE complex. Two key technical areas were identified where testing results were needed to improve the technical basis by reducing the uncertainty due to extrapolating existing literature results. The first technical need was to quantify the role of slurry particles in small breaches where the slurry particles may plug and result in substantially reduced, or even negligible, respirable fraction formed by high-pressure sprays. The second technical need was to determine the aerosol droplet size distribution and volume from prototypic breaches and fluids, specifically including sprays from larger breaches with slurries where data from the literature are scarce. To address these technical areas, small- and large-scale test stands were constructed and operated with simulants to determine aerosol release fractions and net generation rates from a range of breach sizes and geometries. The properties of the simulants represented the range of properties expected in the WTP process streams and included water, sodium salt solutions, slurries containing boehmite or gibbsite, and a hazardous chemical simulant. The effect of antifoam agents was assessed with most of the simulants. Orifices included round holes and

  7. Observers' reactions to genetic testing: the role of hindsight bias and judgements of responsibility. (United States)

    Menec, V H; Weiner, B


    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.

  8. Calibration of Results of Water Meter Test Facility

    Directory of Open Access Journals (Sweden)

    Andrius Bončkus


    Full Text Available The results of water meter test facility calibration are presented. More than 30 test facilities are used in Lithuania nowadays. All of them are certificated for water meter of class 2 verification. The results of inter-laboratory comparison of multi-jet water meter calibration at flow rate Q = 5 m3/h are presented. Lithuanian Energy Institute was appointed as reference laboratory for the comparison. Twelve water meter verification and calibration laboratories from Lithuania participated in the ILC. The deviations from reference values were described by the normalized deviation En.Article in Lithuanian

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

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


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

  10. Healthy Efficient New Gas Homes (HENGH) Pilot Test Results

    Energy Technology Data Exchange (ETDEWEB)

    Chan, Wanyu R. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Maddalena, Randy L [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Stratton, Chris [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Hotchi, Toshifumi [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Singer, Brett C. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Walker, Iain S. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Sherman, Max H. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)


    The Healthy Efficient New Gas Homes (HENGH) is a field study that will collect data on ventilation systems and indoor air quality (IAQ) in new California homes that were built to 2008 Title 24 standards. A pilot test was performed to help inform the most time and cost effective approaches to measuring IAQ in the 100 test homes that will be recruited for this study. Two occupied, single-family detached homes built to 2008 Title 24 participated in the pilot test. One of the test homes uses exhaust-only ventilation provided by a continuous exhaust fan in the laundry room. The other home uses supply air for ventilation. Measurements of IAQ were collected for two weeks. Time-resolved concentrations of particulate matter (PM), nitrogen dioxide (NO2), carbon dioxide (CO2), carbon monoxide (CO), and formaldehyde were measured. Measurements of IAQ also included time-integrated concentrations of volatile organic compounds (VOCs), volatile aldehydes, and NO2. Three perfluorocarbon tracers (PFTs) were used to estimate the dilution rate of an indoor emitted air contaminant in the two pilot test homes. Diagnostic tests were performed to measure envelope air leakage, duct leakage, and airflow of range hood, exhaust fans, and clothes dryer vent when accessible. Occupant activities, such as cooking, use of range hood and exhaust fans, were monitored using various data loggers. This document describes results of the pilot test.

  11. Comparison between Genetic Algorithms and Particle Swarm Optimization Methods on Standard Test Functions and Machine Design

    DEFF Research Database (Denmark)

    Nica, Florin Valentin Traian; Ritchie, Ewen; Leban, Krisztina Monika


    , genetic algorithm and particle swarm are shortly presented in this paper. These two algorithms are tested to determine their performance on five different benchmark test functions. The algorithms are tested based on three requirements: precision of the result, number of iterations and calculation time......Nowadays the requirements imposed by the industry and economy ask for better quality and performance while the price must be maintained in the same range. To achieve this goal optimization must be introduced in the design process. Two of the best known optimization algorithms for machine design....... Both algorithms are also tested on an analytical design process of a Transverse Flux Permanent Magnet Generator to observe their performances in an electrical machine design application....

  12. Comparison between Genetic Algorithms and Particle Swarm Optimization Methods on Standard Test Functions and Machine Design

    DEFF Research Database (Denmark)

    Nica, Florin Valentin Traian; Ritchie, Ewen; Leban, Krisztina Monika


    , genetic algorithm and particle swarm are shortly presented in this paper. These two algorithms are tested to determine their performance on five different benchmark test functions. The algorithms are tested based on three requirements: precision of the result, number of iterations and calculation time......Nowadays the requirements imposed by the industry and economy ask for better quality and performance while the price must be maintained in the same range. To achieve this goal optimization must be introduced in the design process. Two of the best known optimization algorithms for machine design....... Both algorithms are also tested on an analytical design process of a Transverse Flux Permanent Magnet Generator to observe their performances in an electrical machine design application....

  13. Planar Pixel Sensors for the ATLAS Upgrade: Beam Tests results

    CERN Document Server

    Weingarten, J; Beimforde, M; Benoit, M; Bomben, M; Calderini, G; Gallrapp, C; George, M; Gibson, S; Grinstein, S; Janoska, Z; Jentzsch, J; Jinnouchi, O; Kishida, T; La Rosa, A; Libov, V; Macchiolo, A; Marchiori, G; Münstermann, D; Nagai, R; Piacquadio, G; Ristic, B; Rubinskiy, I; Rummler, A; Takubo, Y; Troska, G; Tsiskaridtze, S; Tsurin, I; Unno, Y; Weigel, P; Wittig, T


    Results of beam tests with planar silicon pixel sensors aimed towards the ATLAS Insertable B-Layer and High Luminosity LHC (HL-LHC) upgrades are presented. Measurements include spatial resolution, charge collection performance and charge sharing between neighbouring cells as a function of track incidence angle for different bulk materials. Measurements of n-in-n pixel sensors are presented as a function of fluence for different irradiations. Furthermore p-type silicon sensors from several vendors with slightly differing layouts were tested. All tested sensors were connected by bump-bonding to the ATLAS Pixel read-out chip. We show that both n-type and p-type tested planar sensors are able to collect significant charge even after integrated fluences expected at HL-LHC.

  14. PFR fuel cladding transient test results and analysis (United States)

    Cannon, N. S.; Hunter, C. W.; Kear, K. L.; Wood, M. H.


    Fuel Cladding Transient Tests (FCTT) were performed on M316 cladding specimens obtained from mixed-oxide fuel pins irradiated in the Prototype Fast Reactor (PFR) to burnups of 4 and 9 atom percent. In these tests, specimens of fuel cladding were pressurized and heated until failure occurred. Samples of cladding from PFR fuel pins exhibited generally greater strength and ductility than specimens from Experimental Breeder Reactor-II (EBR-II) mixed-oxide fuel pins tested under similar conditions. Apparently, the PFR cladding properties were not degraded by a fuel adjacency effect (FAE) observed in fuel pin cladding from EBR-II irradiations. A recently developed model of grain boundary cavity growth was used to predict the results of the tests conducted on PFR cladding. It was found that the predicted failure temperatures for the relevant internal pressures were in good agreement with experimental failure temperatures.

  15. Selected Test Results from the Encell Technology Nickel Iron Battery

    Energy Technology Data Exchange (ETDEWEB)

    Ferreira, Summer Kamal Rhodes [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States). Advanced Power Sources R& D; Baca, Wes Edmund [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States). Advanced Power Sources R& D; Avedikian, Kristan [Encell Technology, Alachua, FL (United States)


    The performance of the Encell Nickel Iron (NiFe) battery was measured. Tests included capacity, capacity as a function of rate, capacity as a function of temperature, charge retention (28-day), efficiency, accelerated life projection, and water refill evaluation. The goal of this work was to evaluate the general performance of the Encell NiFe battery technology for stationary applications and demonstrate the chemistry's capabilities in extreme conditions. Test results have indicated that the Encell NiFe battery technology can provide power levels up to the 6C discharge rate, ampere-hour efficiency above 70%. In summary, the Encell batteries have met performance metrics established by the manufacturer. Long-term cycle tests are not included in this report. A cycle test at elevated temperature was run, funded by the manufacturer, which Encell uses to predict long-term cycling performance, and which passed their prescribed metrics.

  16. Test results on silicon micro-strip detectors for ATLAS

    Energy Technology Data Exchange (ETDEWEB)

    DeWitt, J.; Dorfan, D.E.; Dubbs, T.; Grillo, A.A.; Kashigin, S.; Kroeger, W.; Pulliam, T.; Rahn, J.; Rowe, W.A.; Sadrozinski, H.F.-W.; Seiden, A.; Spencer, E.; Webster, A.; Wichmann, R.; Wilder, M.; Williams, D.C.; Dane, J.; Lankford, A.; Pier, S.; Schmid, B.; Bonino, R.; Couyoumtzelis, C.; Demierre, P.; Fujita, K.; Handa, T.; Iwata, Y.; Ohsugi, T.; Iwasaki, H.; Kohriki, T.; Kondo, T.; Terada, S.; Unno, Y.; Takashima, R.; Ciocio, A.; Collins, T.; Emes, J.; Gilchriese, M.G.D.; Haber, C.; Kipnis, I.; Shapiro, M.; Siegrist, J.; Spieler, H.; Moorhead, G.; Nakao, M.; Tamura, N.; Dabrowski, W.; Idzik, M.; Godlewski, J.; Grewal, A.; Nickerson, R.; Wastie, R.; Gao, Y.; Gonzalez, S.; Walsh, A.M.; Feng, Z. [California Univ., Santa Cruz, CA (United States). Inst. for Particle Phys.]|[California Univ., Irvine, CA (United States)]|[Geneva Univ. (Switzerland)]|[Hiroshima Univ. (Japan)]|[KEK, Tsukuba (Japan)]|[Kyoto Univ. Education (Japan)]|[Lawrence Berkeley National Lab., CA (United States)]|[Melbourne Univ. (Australia)]|[Okayama Univ. (Japan)]|[IPNT, Krakow (Poland)]|[INP, Krakow (Poland)]|[Oxford Univ. (United Kingdom)]|[Wisconsin Univ., Madison, WI (United States)


    We report results from beam tests on silicon microstrip detectors using a binary readout system for ATLAS. The data were collected during the H8 beam test at CERN in August/September 1995 and the KEK test in February 1996. The binary modules tested had been assembled from silicon microstrip detectors of different layout and from front-end electronics chips of different architecture. The efficiency, noise occupancy and position resolution were determined as a function of the threshold setting for various bias voltages and angles of incidence for both irradiated and non-irradiated detectors. In particular, the high spatial resolution of the beam telescope allowed the evaluation of the performance as a function of the track location in between detector strips. (orig.).

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

    Directory of Open Access Journals (Sweden)

    Peter D Paré


    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. Testing for a genetic response to sexual selection in a wild Drosophila population. (United States)

    Gosden, T P; Thomson, J R; Blows, M W; Schaul, A; Chenoweth, S F


    In accordance with the consensus that sexual selection is responsible for the rapid evolution of display traits on macroevolutionary scales, microevolutionary studies suggest sexual selection is a widespread and often strong form of directional selection in nature. However, empirical evidence for the contemporary evolution of sexually selected traits via sexual rather than natural selection remains weak. In this study, we used a novel application of quantitative genetic breeding designs to test for a genetic response to sexual selection on eight chemical display traits from a field population of the fly, Drosophila serrata. Using our quantitative genetic approach, we were able to detect a genetically based difference in means between groups of males descended from fathers who had either successfully sired offspring or were randomly collected from the same wild population for one of these display traits, the diene (Z,Z)-5,9-C27 : 2 . Our experimental results, in combination with previous laboratory studies on this system, suggest that both natural and sexual selection may be influencing the evolutionary trajectories of these traits in nature, limiting the capacity for a contemporary evolutionary response.

  19. Genetic Correlations between Young Horse and Dressage Competition Results in Danish Warmblood Horses

    DEFF Research Database (Denmark)

    Jönsson, Lina Johanna Maria; Christiansen, Karina; Holm, Maiken;


    ABSTRACT: Young horse results of conformation and gaits were studied for their heritability and genetic correlation to future dressage competition results, to assess their value as young horse indicator traits. The young horse gait- and conformation scores generally had higher heritabilities (0.......13˗0.48) than the breeding goal trait of dressage competition results (0.16). Young horse results showed medium high to high genetic correlations to dressage competition results (0.32˗0.91) where most recorded young horse gait- and conformation scores contributed with considerable information to future dressage...... competition results. If considering both accuracy of each young horse trait and genetic correlation to dressage competition results, as rg×rIA, the best young horse indicator traits for future performance were capacity, trot, canter, and rideability, all under own rider. Most important conformation traits...

  20. Genetic Correlations between Young Horse and Dressage Competition Results in Danish Warmblood Horses

    DEFF Research Database (Denmark)

    Jönsson, Lina Johanna Maria; Christiansen, Karina; Holm, Maiken


    ABSTRACT: Young horse results of conformation and gaits were studied for their heritability and genetic correlation to future dressage competition results, to assess their value as young horse indicator traits. The young horse gait- and conformation scores generally had higher heritabilities (0.......13˗0.48) than the breeding goal trait of dressage competition results (0.16). Young horse results showed medium high to high genetic correlations to dressage competition results (0.32˗0.91) where most recorded young horse gait- and conformation scores contributed with considerable information to future dressage...... competition results. If considering both accuracy of each young horse trait and genetic correlation to dressage competition results, as rg×rIA, the best young horse indicator traits for future performance were capacity, trot, canter, and rideability, all under own rider. Most important conformation traits...