Sample records for national genetic evaluations

  1. National Pork Producers Council Maternal Line National Genetic Evaluation Program: a comparison of sow longevity and trait associations with sow longevity.

    PubMed

    Serenius, T; Stalder, K J; Baas, T J; Mabry, J W; Goodwin, R N; Johnson, R K; Robison, O W; Tokach, M; Miller, R K

    2006-09-01

    Data from the National Pork Producers Council Maternal Line National Genetic Evaluation Program were used to compare longevity of sows from 6 commercial genetic lines and to estimate the phenotypic associations of sow longevity with gilt backfat thickness, ADG, age at first farrowing, litter size at first farrowing, litter weight at first farrowing, average feed intake during lactation, and average backfat loss during lactation. The lines evaluated were American Diamond Genetics, Danbred North America, Dekalb-Monsanto DK44, Dekalb-Monsanto GPK347, Newsham Hybrids, and National Swine Registry. The data set contained information from 3,251 gilts, of which 17% had censored longevity records (sows lived longer than 6 parities). The line comparison was carried out by analyzing all lines simultaneously. Because the survival distribution functions differed among genetic lines, later analyses were carried out separately for each genetic line. All analyses were based on the non-parametric proportional hazard (Cox model). Dekalb-Monsanto GPK347 sows had a lower risk of being culled than sows from the other lines. Moreover, the shape of the survival distribution function of the Delkab-Monsanto GPK347 line was different from the other 5 lines. The Dekalb-Monsanto 347 line had lower culling rates because they had lower gilt reproductive failure before the first parity than gilts from the other lines. Within line, sows with lower feed intake and greater backfat loss during lactation had a shorter productive lifetime. Thus, producers should implement management practices having positive effects on sow lactation feed intake. Additionally, the swine genetics industry is challenged to simultaneously improve efficiency of gain of their terminal market pigs and to obtain high feed intake during lactation of their maternal lines for future improvement of sow longevity. Recording sow feed intake and backfat loss during lactation in nucleus and multiplication breeding herds should be

  2. Coverage of genetic technologies under national health reform.

    PubMed Central

    Mehlman, M. J.; Botkin, J. R.; Scarrow, A.; Woodhall, A.; Kass, J.; Siebenschuh, E.

    1994-01-01

    This article examines the extent to which the technologies expected to emerge from genetic research are likely to be covered under Government-mandated health insurance programs such as those being proposed by advocates of national health reform. Genetic technologies are divided into three broad categories; genetic information services, including screening, testing, and counseling; experimental technologies; and gene therapy. This article concludes that coverage of these technologies under national health reform is uncertain. The basic benefits packages provided for in the major health reform plans are likely to provide partial coverage of experimental technologies; relatively broad coverage of information services; and varying coverage of gene therapies, on the basis of an evaluation of their costs, benefits, and the degree to which they raise objections on political and religious grounds. Genetic services that are not included in the basic benefits package will be available only to those who can purchase supplemental insurance or to those who can purchase the services with personal funds. The resulting multitiered system of access to genetic services raises serious questions of fairness. PMID:7977343

  3. Applied genetic evaluations for production and functional traits in dairy cattle.

    PubMed

    Mark, T

    2004-08-01

    The objective of this study was to review the current status of genetic evaluation systems for production and functional traits as practiced in different Interbull member countries and to discuss that status in relation to research results and potential improvements. Thirty-one countries provided information. Substantial variation was evident for number of traits considered per country, trait definition, genetic evaluation procedure within trait, effects included, and how these were treated in genetic evaluation models. All countries lacked genetic evaluations for one or more economically important traits. Improvement in the genetic evaluation models, especially for many functional traits, could be achieved by closing the gaps between research and practice. More detailed and up to date information about national genetic evaluation systems for traits in different countries is available at www.interbull.org. Female fertility and workability traits were considered in many countries and could be next in line for international genetic evaluations.

  4. Genetic conditions of joint Nordic genetic evaluations of lifetime competition performance in warmblood sport horses.

    PubMed

    Viklund, Å; Furre, S; Eriksson, S; Vangen, O; Philipsson, J

    2015-08-01

    Breeding programmes for warmblood sport horses are similar in the Nordic countries Sweden, Denmark, Finland and Norway, and stallions of same origin are used. The aim was to investigate whether a joint Nordic genetic evaluation based on lifetime competition performance is feasible and beneficial for breeding competitive sport horses in the Nordic countries. Results for almost 45,000 horses in show jumping and 30,000 horses in dressage were available. The larger populations in Sweden and Denmark contributed with 85% of the results. Heritabilities and genetic correlations between performances in the different countries were estimated, and comparisons of accuracies of estimated breeding values (EBVs) and number of stallions with EBVs based on national or joint data were studied. The heritabilities ranged between 0.25 and 0.42 for show jumping and between 0.14 and 0.55 for dressage. The genetic correlations between competition performances in the Nordic countries were estimated to 0.63-1.00. EBVs based on joint data increased accuracies for EBVs for stallions by 38-81% and increased the number of available stallions with EBVs by 40-288%, compared to EBVs based on national data only. A joint Nordic genetic evaluation for sport horses is recommended. © 2015 Blackwell Verlag GmbH.

  5. Evaluating a hybrid web-based basic genetics course for health professionals.

    PubMed

    Wallen, Gwenyth R; Cusack, Georgie; Parada, Suzan; Miller-Davis, Claiborne; Cartledge, Tannia; Yates, Jan

    2011-08-01

    Health professionals, particularly nurses, continue to struggle with the expanding role of genetics information in the care of their patients. This paper describes an evaluation study of the effectiveness of a hybrid basic genetics course for healthcare professionals combining web-based learning with traditional face-to-face instructional techniques. A multidisciplinary group from the National Institutes of Health (NIH) created "Basic Genetics Education for Healthcare Providers" (BGEHCP). This program combined 7 web-based self-education modules with monthly traditional face-to-face lectures by genetics experts. The course was pilot tested by 186 healthcare providers from various disciplines with 69% (n=129) of the class registrants enrolling in a pre-post evaluation trial. Outcome measures included critical thinking knowledge items and a Web-based Learning Environment Inventory (WEBLEI). Results indicated a significant (p<0.001) change in knowledge scores. WEBLEI scores indicated program effectiveness particularly in the area of convenience, access and the course structure and design. Although significant increases in overall knowledge scores were achieved, scores in content areas surrounding genetic risk identification and ethical issues regarding genetic testing reflected continued gaps in knowledge. Web-based genetics education may help overcome genetics knowledge deficits by providing access for health professionals with diverse schedules in a variety of national and international settings. Published by Elsevier Ltd.

  6. A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report.

    PubMed

    Resta, Robert; Biesecker, Barbara Bowles; Bennett, Robin L; Blum, Sandra; Hahn, Susan Estabrooks; Strecker, Michelle N; Williams, Janet L

    2006-04-01

    The Genetic Counseling Definition Task Force of the National Society of Genetic Counselors (NSGC) developed the following definition of genetic counseling that was approved by the NSGC Board of Directors: Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. Education about inheritance, testing, management, prevention, resources and research. Counseling to promote informed choices and adaptation to the risk or condition. The definition was approved after a peer review process with input from the NSGC membership, genetic professional organizations, the NSGC legal counsel, and leaders of several national genetic advocacy groups.

  7. Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline.

    PubMed

    Weissman, Scott M; Burt, Randall; Church, James; Erdman, Steve; Hampel, Heather; Holter, Spring; Jasperson, Kory; Kalady, Matt F; Haidle, Joy Larsen; Lynch, Henry T; Palaniappan, Selvi; Wise, Paul E; Senter, Leigha

    2012-08-01

    Identifying individuals who have Lynch syndrome (LS) involves a complex diagnostic work up that includes taking a detailed family history and a combination of various genetic and immunohistochemical tests. The National Society of Genetic Counselors (NSGC) and the Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC) have come together to publish this clinical practice testing guideline for the evaluation of LS. The purpose of this practice guideline is to provide guidance and a testing algorithm for LS as well as recommendations on when to offer testing. This guideline does not replace a consultation with a genetics professional. This guideline includes explanations in support of this and a summary of background data. While this guideline is not intended to serve as a review of LS, it includes a discussion of background information on LS, and cites a number of key publications which should be reviewed for a more in-depth understanding of LS. These guidelines are intended for genetic counselors, geneticists, gastroenterologists, surgeons, medical oncologists, obstetricians and gynecologists, nurses and other healthcare providers who evaluate patients for LS.

  8. National coalition for health professional education in genetics.

    PubMed

    Kenner, C

    1998-11-01

    With the explosion of genetic information, there has been a recognized need for more genetic knowledge among health care professionals. The National Coalition for Health Professional Education in Genetics (NCHPEG) was established in 1996 to address this need. This article briefly outlines the mission of this Coalition and gives an overview of its relationship to acute and critical care nurses.

  9. Genetic variation and seed zones of Douglas-fir in the Siskiyou National Forest.

    Treesearch

    Robert K. Campbell; Albert I. Sugano

    1993-01-01

    Provisional seed zones and breeding zones were developed for Douglas-fir (Pseudotsuga menziesii (Mirb.) Franco) in the Siskiyou National Forest in southwestern Oregon. Zones were based on maps of genetic variation patterns obtained by evaluating genotypes of trees from 260 locations in the region. Genotypes controlling growth vigor and growth...

  10. Genetic evaluation for cow livability

    USDA-ARS?s Scientific Manuscript database

    When genetic evaluations for Productive Life were introduced by USDA in 1994, U.S. dairy producers had an opportunity to produce healthier cows, and it happened. The genetic evaluations were incorporated into selection programs and the deterioration occurring in pregnancy rate and somatic cell score...

  11. Genetic Evaluation of Short Stature

    PubMed Central

    Rosenfeld, Ron G.

    2014-01-01

    Context: Genetics plays a major role in determining an individual's height. Although there are many monogenic disorders that lead to perturbations in growth and result in short stature, there is still no consensus as to the role that genetic diagnostics should play in the evaluation of a child with short stature. Evidence Acquisition: A search of PubMed was performed, focusing on the genetic diagnosis of short stature as well as on specific diagnostic subgroups included in this article. Consensus guidelines were reviewed. Evidence Synthesis: There are a multitude of rare genetic causes of severe short stature. There is no high-quality evidence to define the optimal approach to the genetic evaluation of short stature. We review genetic etiologies of a number of diagnostic subgroups and propose an algorithm for genetic testing based on these subgroups. Conclusion: Advances in genomic technologies are revolutionizing the diagnostic approach to short stature. Endocrinologists must become facile with the use of genetic testing in order to identify the various monogenic disorders that present with short stature. PMID:24915122

  12. Experiences from the National Institute of Nursing Research: Summer Genetics Institute 2004.

    PubMed

    Whitt, Karen J

    2005-02-01

    The National Institute of Nursing Research (NINR) Summer Genetics Institute (SGI) prepares nurses with training in molecular genetics for use in clinical practice, research, and education. Experiences from the SGI 2004 are recounted. More than 35 genetic experts from National Institutes of Health and surrounding universities in Washington, D.C., provided lecture and laboratory experiences. The lecture portion of the SGI focused on the molecular aspect of genetics and the laboratory component included experiments designed to provide an understanding of genetic approaches for diagnostic and research purposes. The SGI prepares nurses with the genetic foundation to meet the healthcare challenges of the future.

  13. Genetic evaluations for growth heat tolerance in Angus cattle.

    PubMed

    Bradford, H L; Fragomeni, B O; Bertrand, J K; Lourenco, D A L; Misztal, I

    2016-10-01

    The objectives were to assess the impact of heat stress and to develop a model for genetic evaluation of growth heat tolerance in Angus cattle. The American Angus Association provided weaning weight (WW) and yearling weight (YW) data, and records from the Upper South region were used because of the hot climatic conditions. Heat stress was characterized by a weaning (yearling) heat load function defined as the mean temperature-humidity index (THI) units greater than 75 (70) for 30 (150) d prior to the weigh date. Therefore, a weaning (yearling) heat load of 5 units corresponded to 80 (75) for the corresponding period prior to the weigh date. For all analyses, 82,669 WW and 69,040 YW were used with 3 ancestral generations in the pedigree. Univariate models were a proxy for the Angus growth evaluation, and reaction norms using 2 B-splines for heat load were fit separately for weaning and yearling heat loads. For both models, random effects included direct genetic, maternal genetic, maternal permanent environment (WW only), and residual. Fixed effects included a linear age covariate, age-of-dam class (WW only), and contemporary group for both models and fixed regressions on the B-splines in the reaction norm. Direct genetic correlations for WW were strong for modest heat load differences but decreased to less than 0.50 for large differences. Reranking of proven sires occurred for only WW direct effects for the reaction norms with extreme heat load differences. Conversely, YW results indicated little effect of heat stress on genetic merit. Therefore, weaning heat tolerance was a better candidate for developing selection tools. Maternal heritabilities were consistent across heat loads, and maternal genetic correlations were greater than 0.90 for nearly all heat load combinations. No evidence existed for a genotype × environment interaction for the maternal component of growth. Overall, some evidence exists for phenotypic plasticity for the direct genetic effects of WW

  14. Ecological genetics at the USGS National Wetlands Research Center

    USGS Publications Warehouse

    Travis, Steven

    2006-01-01

    The Ecological Genetics Program at the USGS National Wetlands Research Center (NWRC) employs state-of-the-art DNA fingerprinting technologies in characterizing critical management aspects of the population biology of species of concern (fig. 1). The overarching themes of this program have been (1) the critical role that genetic diversity plays in maintaining population viability and (2) how management strategies might incorporate genetic information in preventing the decline of desirable species or in controlling the spread of invasive species.

  15. Genetic connectivity for two bear species at wildlife crossing structures in Banff National Park.

    PubMed

    Sawaya, Michael A; Kalinowski, Steven T; Clevenger, Anthony P

    2014-04-07

    Roads can fragment and isolate wildlife populations, which will eventually decrease genetic diversity within populations. Wildlife crossing structures may counteract these impacts, but most crossings are relatively new, and there is little evidence that they facilitate gene flow. We conducted a three-year research project in Banff National Park, Alberta, to evaluate the effectiveness of wildlife crossings to provide genetic connectivity. Our main objective was to determine how the Trans-Canada Highway and crossing structures along it affect gene flow in grizzly (Ursus arctos) and black bears (Ursus americanus). We compared genetic data generated from wildlife crossings with data collected from greater bear populations. We detected a genetic discontinuity at the highway in grizzly bears but not in black bears. We assigned grizzly bears that used crossings to populations north and south of the highway, providing evidence of bidirectional gene flow and genetic admixture. Parentage tests showed that 47% of black bears and 27% of grizzly bears that used crossings successfully bred, including multiple males and females of both species. Differentiating between dispersal and gene flow is difficult, but we documented gene flow by showing migration, reproduction and genetic admixture. We conclude that wildlife crossings allow sufficient gene flow to prevent genetic isolation.

  16. Genetic connectivity for two bear species at wildlife crossing structures in Banff National Park

    PubMed Central

    Sawaya, Michael A.; Kalinowski, Steven T.; Clevenger, Anthony P.

    2014-01-01

    Roads can fragment and isolate wildlife populations, which will eventually decrease genetic diversity within populations. Wildlife crossing structures may counteract these impacts, but most crossings are relatively new, and there is little evidence that they facilitate gene flow. We conducted a three-year research project in Banff National Park, Alberta, to evaluate the effectiveness of wildlife crossings to provide genetic connectivity. Our main objective was to determine how the Trans-Canada Highway and crossing structures along it affect gene flow in grizzly (Ursus arctos) and black bears (Ursus americanus). We compared genetic data generated from wildlife crossings with data collected from greater bear populations. We detected a genetic discontinuity at the highway in grizzly bears but not in black bears. We assigned grizzly bears that used crossings to populations north and south of the highway, providing evidence of bidirectional gene flow and genetic admixture. Parentage tests showed that 47% of black bears and 27% of grizzly bears that used crossings successfully bred, including multiple males and females of both species. Differentiating between dispersal and gene flow is difficult, but we documented gene flow by showing migration, reproduction and genetic admixture. We conclude that wildlife crossings allow sufficient gene flow to prevent genetic isolation. PMID:24552834

  17. Genetic ancestry of participants in the National Children's Study.

    PubMed

    Smith, Erin N; Jepsen, Kristen; Arias, Angelo D; Shepard, Peter J; Chambers, Christina D; Frazer, Kelly A

    2014-02-03

    The National Children's Study (NCS) is a prospective epidemiological study in the USA tasked with identifying a nationally representative sample of 100,000 children, and following them from their gestation until they are 21 years of age. The objective of the study is to measure environmental and genetic influences on growth, development, and health. Determination of the ancestry of these NCS participants is important for assessing the diversity of study participants and for examining the effect of ancestry on various health outcomes. We estimated the genetic ancestry of a convenience sample of 641 parents enrolled at the 7 original NCS Vanguard sites, by analyzing 30,000 markers on exome arrays, using the 1000 Genomes Project superpopulations as reference populations, and compared this with the measures of self-reported ethnicity and race. For 99% of the individuals, self-reported ethnicity and race agreed with the predicted superpopulation. NCS individuals self-reporting as Asian had genetic ancestry of either South Asian or East Asian groups, while those reporting as either Hispanic White or Hispanic Other had similar genetic ancestry. Of the 33 individuals who self-reported as Multiracial or Non-Hispanic Other, 33% matched the South Asian or East Asian groups, while these groups represented only 4.4% of the other reported categories. Our data suggest that self-reported ethnicity and race have some limitations in accurately capturing Hispanic and South Asian populations. Overall, however, our data indicate that despite the complexity of the US population, individuals know their ancestral origins, and that self-reported ethnicity and race is a reliable indicator of genetic ancestry.

  18. Drosophila Genetic Resource and Stock Center; The National BioResource Project.

    PubMed

    Yamamoto, Masa-Toshi

    2010-01-01

    The fruit fly, Drosophila melanogaster, is not categorized as a laboratory animal, but it is recognised as one of the most important model organisms for basic biology, life science, and biomedical research. This tiny fly continues to occupy a core place in genetics and genomic approaches to studies of biology and medicine. The basic principles of genetics, including the variations of phenotypes, mutations, genetic linkage, meiotic chromosome segregation, chromosome aberrations, recombination, and precise mapping of genes by genetic as well as cytological means, were all derived from studies of Drosophila. Recombinant DNA technology was developed in the 1970s and Drosophila DNA was the first among multicellular organisms to be cloned. It provided a detailed characterization of genes in combination of classical cytogenetic data. Drosophila thus became the pioneering model organism for various fields of life science research into multicellular organisms. Here, I briefly describe the history of Drosophila research and provide a few examples of the application of the abundant genetic resources of Drosophila to basic biology and medical investigations. A Japanese national project, the National BioResource Project (NBRP) for collection, maintainance, and provision of Drosophila resources, that is well known and admired by researchers in other countries as an important project, is also briefly described.

  19. Genotype by environment interaction effects in genetic evaluation of preweaning gain for Line 1 Hereford cattle from Miles City, Montana

    USDA-ARS?s Scientific Manuscript database

    That genotype by environment interaction potentially influences genetic evaluation of beef cattle has long been recognized. However, this recognition has largely been ignored in systems for national cattle evaluation. The objective of this investigation was to determine if direct and maternal geneti...

  20. Georeferenced evaluation of genetic breeding value patterns in Brazilian Holstein cattle.

    PubMed

    Costa, N S; Hermuche, P; Cobuci, J A; Paiva, S R; Guimaraes, R F; Carvalho, O A; Gomes, R A T; Costa, C N; McManus, C M

    2014-11-27

    The aim of this study was to analyze the relationship between environmental and genetic values for milk production and type traits in Holstein cattle in Brazil. The genetic value of 65,383 animals for milk production and 53,626 for type classification were available. Socioeconomic and environmental data were obtained from the Brazilian Institute of Geography and Statistics, the Food and Agriculture Organization of the United Nations, the National Aeronautics and Space Administration, and the National Institute of Meteorology. Five to six clusters were generated for each of the groups of type traits and production levels. The relationships between these traits were assessed using the STEPDISC, DISCRIM and CANDISC procedures in SAS(®). Traits within the clusters behaved differently, but, in general, animals with lower genetic values were found in environments that were more stressful for animal production. These differences were mainly associated with temperature, humidity, precipitation and the Normalized Difference Vegetative Index. Genetic values for milk production showed best discrimination between different environments, while type traits showed poor discrimination, possibly because farmers mainly select for milk production. Environmental variations for genetic values in dairy cattle in Brazil should be further examined.

  1. Genetic ancestry of participants in the National Children’s Study

    PubMed Central

    2014-01-01

    Background The National Children’s Study (NCS) is a prospective epidemiological study in the USA tasked with identifying a nationally representative sample of 100,000 children, and following them from their gestation until they are 21 years of age. The objective of the study is to measure environmental and genetic influences on growth, development, and health. Determination of the ancestry of these NCS participants is important for assessing the diversity of study participants and for examining the effect of ancestry on various health outcomes. Results We estimated the genetic ancestry of a convenience sample of 641 parents enrolled at the 7 original NCS Vanguard sites, by analyzing 30,000 markers on exome arrays, using the 1000 Genomes Project superpopulations as reference populations, and compared this with the measures of self-reported ethnicity and race. For 99% of the individuals, self-reported ethnicity and race agreed with the predicted superpopulation. NCS individuals self-reporting as Asian had genetic ancestry of either South Asian or East Asian groups, while those reporting as either Hispanic White or Hispanic Other had similar genetic ancestry. Of the 33 individuals who self-reported as Multiracial or Non-Hispanic Other, 33% matched the South Asian or East Asian groups, while these groups represented only 4.4% of the other reported categories. Conclusions Our data suggest that self-reported ethnicity and race have some limitations in accurately capturing Hispanic and South Asian populations. Overall, however, our data indicate that despite the complexity of the US population, individuals know their ancestral origins, and that self-reported ethnicity and race is a reliable indicator of genetic ancestry. PMID:24490717

  2. International genetic evaluation of Holstein bulls for overall type traits and body condition score.

    PubMed

    Battagin, M; Forabosco, F; Jakobsen, J H; Penasa, M; Lawlor, T J; Cassandro, M

    2012-08-01

    . Harmonization of trait definition and increasing genetic ties could improve genetic correlations across countries and reduce the distances. In each national selection index, all countries, except Estonia and New Zealand, included at least one overall trait, whereas none included BCS. Out of 18 countries, 9 have started genomic evaluation of conformation traits. The first were Canada, France, New Zealand, and United States in 2009, followed by Switzerland, Germany, and the Netherlands in 2010, and Australia and Denmark-Finland-Sweden (joint evaluation) in 2011. Six countries are planning to start soon. Copyright © 2012 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  3. Options and legal requirements for national and regional animal genetic resources collections

    USDA-ARS?s Scientific Manuscript database

    The contraction of animal genetic resources on a global scale has motivated countries to establish gene banks as a mechanism to conserve national resources. Gene banks should establish a set of policies that insure they are complying with national laws. The two primary areas of consideration are ho...

  4. Multiple Query Evaluation Based on an Enhanced Genetic Algorithm.

    ERIC Educational Resources Information Center

    Tamine, Lynda; Chrisment, Claude; Boughanem, Mohand

    2003-01-01

    Explains the use of genetic algorithms to combine results from multiple query evaluations to improve relevance in information retrieval. Discusses niching techniques, relevance feedback techniques, and evolution heuristics, and compares retrieval results obtained by both genetic multiple query evaluation and classical single query evaluation…

  5. Acceptance of genetically modified foods: the relation between technology and evaluation.

    PubMed

    Tenbült, Petra; De Vries, Nanne K; van Breukelen, Gerard; Dreezens, Ellen; Martijn, Carolien

    2008-07-01

    This study investigates why consumers accept different genetically modified food products to different extents. The study shows that whether food products are genetically modified or not and whether they are processed or not are the two important features that affect the acceptance of food products and their evaluation (in terms of perceived healthiness, naturalness, necessity and tastiness). The extent to which these evaluation attributes and acceptance of a product are affected by genetic modification or processing depends on whether the product is negatively affected by the other technology: Any technological change to a 'natural' product (when nonprocessed products are genetically modified or when non-genetically modified products are processed) affect evaluation and acceptance stronger than a change to an technologically adapted product (when processed products are also genetically modified or vice versa). Furthermore, evaluation attributes appear to mediate the effects of genetic modification and processing on acceptance.

  6. 76 FR 35396 - Notice of Intent To Reestablish the National Genetic Resources Advisory Council, and Request for...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-06-17

    ... DEPARTMENT OF AGRICULTURE Agricultural Research Service Notice of Intent To Reestablish the National Genetic Resources Advisory Council, and Request for Nominations AGENCY: Agricultural Research... intent to reestablish the National Genetic Resources Advisory Council. The notice was published in the...

  7. Psychiatric genetic research at the National Institute of Mental Health

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Berg, K.; Mullican, C.; Maestri, N.

    For some time it has been known through the results of family, twin, and adoption studies that hereditary appears to play a significant casual role in many mental disorders, including schizophrenia, bipolar disorder, and other mood disorders, Alzheimer`s Disease, panic disorder, obsessive compulsive disorder, autism, dyslexia, and Tourette`s syndrome. The precise patterns of inheritance of these complex disorders have not been determined, nor have the relevant genes been localized or cloned. Because the genetics are complex and because there is also clearly an environmental contribution to behavior, we expect the analysis of the genetics of mental illness to be arduousmore » and not quickly resolved. There are several compelling reasons to continue to focus our attention on uncovering the genetic factors for severe mental illness. Prominent among these are the implications for better treatment of mental disorders. The National Institute of Mental Health supports a wide range of studies on psychiatric genetic research. 16 refs.« less

  8. Human neuroscience at National Institute on Drug Abuse: Implications for genetics research

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Gordon, H.W.

    It is becoming clear that there is a genetic component to drug abuse. Family studies, adoption studies, and critical twin studies have all pointed to some genetic vulnerability or risk factors for an individual to abuse psychoactive drugs depending on certain psychopathologies in the biological parents and/or parents` own drug use. The question for the next generation of research at the National Institute on Drug Abuse (NIDA) is to apply the rapidly developing technology in molecular genetics in an effort to determine the candidate genes contributing to the risk. 19 refs.

  9. [Genetic study on somatotype of child and adolescent twins in Han nationality].

    PubMed

    Li, Yu-Ling; Ji, Cheng-Ye; Lu, Shun-Hua; Suo, Li-Ya; Chen, Tian-Jiao

    2006-11-01

    To assess the genetic and environmental influences on the somatotype of children and adolescents, and the effects of sex and age. The components of somatotype were calculated by using Heather-Cater method in a total of 376 twin pairs of Han nationality, including 245 monozygotic (MZ) and 131 like-sex dizygotic (DZ) twin pairs aged 6 to 18 years. Model-fitting method by Mx package was performed to evaluate the proportion of variance components and to analyze the effects of sex and age on each component of somatotype using the adjusted data for other two somatotype components. The heritability of each component in different development periods divided by growth spurt was also evaluated. The estimated heritabilities of endomorphic, mesomorphic and ectomorphic components were 0.45, 0.80, 0.44 in boys, 0.82, 0.79 and 0.81 in girls respectively after adjusting age. In boys, the heritability of endomorphic component during late puberty was significantly higher than that during pre-puberty (t = 4.99, P < 0.01) and puberty (t = 6.16, P < 0.01), while the heritability of ectomorphic component during late puberty was significantly lower than that during pre-puberty (t = 3.35, P < 0.01) and puberty (t = 4.12, P < 0.01). In girls, the heritability of endomorphic (t = 2.77, P < 0.01) or mesomorphic (t = 2.08, P < 0.05) component during pre-puberty was significantly higher than that in early puberty. The genetic influence on somatotype of girls should be much more than that of boys, especially on the endomorphic and ectomorphic components. For boys, the mesomorphic component is mainly determined by genetic factors, but the other components are mainly affected by environmental ones. The effects of the development periods on the heritability of somatotype should be paid much attention to.

  10. Genetic algorithm for nuclear data evaluation

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Arthur, Jennifer Ann

    These are slides on genetic algorithm for nuclear data evaluation. The following is covered: initial population, fitness (outer loop), calculate fitness, selection (first part of inner loop), reproduction (second part of inner loop), solution, and examples.

  11. National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer.

    PubMed

    Childers, Christopher P; Childers, Kimberly K; Maggard-Gibbons, Melinda; Macinko, James

    2017-12-01

    Purpose In the United States, 3.8 million women have a history of breast (BC) or ovarian cancer (OC). Up to 15% of cases are attributable to heritable mutations, which, if identified, provide critical knowledge for treatment and preventive care. It is unknown how many patients who are at high risk for these mutations have not been tested and how rates vary by risk criteria. Methods We used pooled cross-sectional data from three Cancer Control Modules (2005, 2010, 2015) of the National Health Interview Survey, a national in-person household interview survey. Eligible patients were adult females with a history of BC and/or OC meeting select 2017 National Comprehensive Cancer Network eligibility criteria on the basis of age of diagnosis and family history. Outcomes included the proportion of individuals reporting a history of discussing genetic testing with a health professional, being advised to undergo genetic testing, or undergoing genetic testing for BC or OC. Results Of 47,218 women, 2.7% had a BC history and 0.4% had an OC history. For BC, 35.6% met one or more select eligibility criteria; of those, 29.0% discussed, 20.2% were advised to undergo, and 15.3% underwent genetic testing. Testing rates for individual eligibility criteria ranged from 6.2% (relative with OC) to 18.2% (diagnosis ≤ 45 years of age). For OC, 15.1% discussed, 13.1% were advised to undergo, and 10.5% underwent testing. Using only four BC eligibility criteria and all patients with OC, an estimated 1.2 to 1.3 million individuals failed to receive testing. Conclusion Fewer than one in five individuals with a history of BC or OC meeting select National Cancer Comprehensive Network criteria have undergone genetic testing. Most have never discussed testing with a health care provider. Large national efforts are warranted to address this unmet need.

  12. Awareness of cancer susceptibility genetic testing: the 2000, 2005, and 2010 National Health Interview Surveys.

    PubMed

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

    2014-05-01

    Genetic testing for several cancer susceptibility syndromes is clinically available; however, existing data suggest limited population awareness of such tests. To examine awareness regarding cancer genetic testing in the U.S. population aged ≥25 years in the 2000, 2005, and 2010 National Health Interview Surveys. The weighted percentages of respondents aware of cancer genetic tests, and percent changes from 2000-2005 and 2005-2010, overall and by demographic, family history, and healthcare factors were calculated. Interactions were used to evaluate the patterns of change in awareness between 2005 and 2010 among subgroups within each factor. To evaluate associations with awareness in 2005 and 2010, percentages were adjusted for covariates using multiple logistic regression. The analysis was performed in 2012. Awareness decreased from 44.4% to 41.5% (p<0.001) between 2000 and 2005, and increased to 47.0% (p<0.001) in 2010. Awareness increased between 2005 and 2010 in most subgroups, particularly among individuals in the South (pinteraction=0.03) or with a usual place of care (pinteraction=0.01). In 2005 and 2010, awareness was positively associated with personal or family cancer history and high perceived cancer risk, and inversely associated with racial/ethnic minorities, age 25-39 or ≥60 years, male gender, lower education and income levels, public or no health insurance, and no provider contact in 12 months. Despite improvement from 2005 to 2010, ≤50% of the U.S. adult population was aware of cancer genetic testing in 2010. Notably, disparities persist for racial/ethnic minorities and individuals with limited health care access or income. Published by Elsevier Inc.

  13. Genetics education for health professionals: strategies and outcomes from a national initiative in the United Kingdom.

    PubMed

    Farndon, Peter A; Bennett, Catherine

    2008-04-01

    The National Health Service (NHS) National Genetics Education and Development Centre was established by the Department of Health in 2004 to help drive and co-ordinate genetics education for health professionals working outside specialist genetic services. This paper reviews the experiences and lessons learned to date. At the outset, it was clear that understanding the learning ethos, preferred delivery methods and attitudes towards genetics of different NHS healthcare groups was vital. We collected evidence by undertaking needs assessments with educators, practitioners and patients. We have determined the genetics knowledge, skills and attitudes which they said were needed and translated these into learning outcomes and workforce competences in a continuum of education. Beginning with core concepts introduced (and examined) pre-registration, the continuum continues with development of concepts post-registration as appropriate for role, leading to practical application and assessment of competences in the workplace. These are supported by a portfolio of resources which draw heavily on patient based scenarios to demonstrate to staff that genetics is relevant to their work, and to convince educators and policy makers that genetic education is likely to result in real clinical benefit. A long term educational policy, inclusive of learners, educationalists and their institutions must be evidence based, flexible and responsive to changes in workforce structure, provision of clinical services and conceptual and financial commitments to education. The engagement of national policy, regulatory and professional bodies is vital (www.geneticseducation.nhs.uk).

  14. National Security Technology Incubator Evaluation Process

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    None, None

    This report describes the process by which the National Security Technology Incubator (NSTI) will be evaluated. The technology incubator is being developed as part of the National Security Preparedness Project (NSPP), funded by a Department of Energy (DOE)/National Nuclear Security Administration (NNSA) grant. This report includes a brief description of the components, steps, and measures of the proposed evaluation process. The purpose of the NSPP is to promote national security technologies through business incubation, technology demonstration and validation, and workforce development. The NSTI will focus on serving businesses with national security technology applications by nurturing them through critical stages ofmore » early development. An effective evaluation process of the NSTI is an important step as it can provide qualitative and quantitative information on incubator performance over a given period. The vision of the NSTI is to be a successful incubator of technologies and private enterprise that assist the NNSA in meeting new challenges in national safety and security. The mission of the NSTI is to identify, incubate, and accelerate technologies with national security applications at various stages of development by providing hands-on mentoring and business assistance to small businesses and emerging or growing companies. To achieve success for both incubator businesses and the NSTI program, an evaluation process is essential to effectively measure results and implement corrective processes in the incubation design if needed. The evaluation process design will collect and analyze qualitative and quantitative data through performance evaluation system.« less

  15. [Genetic Polymorphisms of 26 Y-STR Loci in Fujian She Nationality and Its Forensic Application].

    PubMed

    Bian, Ying-nan; Siyit, Tele T; Zhu, Ru-xin; Zhao, Qi; Zhang Su-hua

    2015-08-01

    To study the forensic application of Goldeneye DNA ID 26Y Kit in the She nationality. Through capillary electrophoresis, the genotype of 26 Y-STR loci were analyzed in 53 unrelated male individuals from Fujian She nationality. The population genetics parameters such as allele frequency and haplotype diversity were calculated. The comparisons among the She nationality and the other nationalities were analyzed. A total of 126 alleles were observed on the 26 Y-STR loci of 53 unrelated male individuals. The allele frequencies and GD value ranged from 0.010 1 to 0.886 8 and 0.211 2 to 0.846 2, respectively. The GD value was greater than 0.5 in the 19 loci. A total of 47 haplotypes were observed. Based on R(ST), multidimensional scaling plot indicated that the genetic relationship among Fujian She nationality and Minnan Han nationality was closest, followed by Southern China Han nationality and Northern China nationality. Goldeneye™ DNA ID 26Y Kit including 26 Y-STR loci has good polymorphism in the She nationality. As an additional system, it has forensic application value in some special cases.

  16. The U.S. Forest Service National Seed Laboratory and Fraxinus ex situ genetic conservation

    Treesearch

    Robert P. Karrfalt

    2010-01-01

    The U.S. Forest Service's National Seed Laboratory (NSL) has as part of its mission the conservation of genetic resources for the Forest Service and Forest Service cooperators through long-term seed storage. The Forest Service recognizes ash as one of four priority species for genetic conservation. The NSL is in charge of the Forest Service ash preservation plan...

  17. Multiple-trait multiple-country genetic evaluation of Holstein bulls for female fertility and milk production traits.

    PubMed

    Nilforooshan, M A; Jakobsen, J H; Fikse, W F; Berglund, B; Jorjani, H

    2014-06-01

    The aim of this study was to investigate the effect of including milk yield data in the international genetic evaluation of female fertility traits to reduce or eliminate a possible bias because of across-country selection for milk yield. Data included two female fertility traits from Great Britain, Italy and the Netherlands, together with milk yield data from the same countries and from the United States, because the genetic trends in other countries may be influenced by selection decisions on bulls in the United States. Potentially, female fertility data had been corrected nationally for within-country selection and management biases for milk yield. Using a multiple-trait multiple across-country evaluation (MT-MACE) for the analysis of female fertility traits with milk yield, across-country selection patterns both for female fertility and milk yield can be considered simultaneously. Four analyses were performed; one single-trait multiple across-country evaluation analysis including only milk yield data, one MT-MACE analysis including only female fertility traits, and one MT-MACE analysis including both female fertility and milk yield traits. An additional MT-MACE analysis was performed including both female fertility and milk yield traits, but excluding the United States. By including milk yield traits to the analysis, female fertility reliabilities increased, but not for all bulls in all the countries by trait combinations. The presence of milk yield traits in the analysis did not considerably change the genetic correlations, genetic trends or bull rankings of female fertility traits. Even though the predicted genetic merits of female fertility traits hardly changed by including milk yield traits to the analysis, the change was not equally distributed to the whole data. The number of bulls in common between the two sets of Top 100 bulls for each trait in the two analyses of female fertility traits, with and without the four milk yield traits and their rank

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

    PubMed

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

    2012-10-01

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

  19. Genetic diversity among wheat accessions from the USDA National Small Grains Collection

    USDA-ARS?s Scientific Manuscript database

    Accessions of Triticum aestivum subsp. aestivum from the USDA-ARS National Small Grains Collection (NSGC) are a resource for wheat scientists worldwide. The genetic diversity of the wheat core subset, representing approximately 10% of the collection’s 42138 T. aestivum accessions, was examined using...

  20. Genetic improvement of shortleaf pine on the Mark Twain, Ouachita, and Ozark National Forests

    Treesearch

    Charly Studyvin; David Gwaze

    2007-01-01

    A genetic conservation and breeding program for shortleaf pine (Pinus echinata Mill.) was initiated in the 1960s by the Mark Twain National Forest in Missouri. Superior trees were selected from natural stands throughout the Forest. Fifty of the top-ranked superior trees were grafted into a first generation seed orchard at the Ouachita National Forest...

  1. Genetic status and conservation of Westslope Cutthroat Trout in Glacier National Park

    USGS Publications Warehouse

    Muhlfeld, Clint C.; D'Angelo, Vincent S.; Downs, Christopher C.; Powell, John D.; Amish, Stephen J.; Luikart, Gordon; Kovach, Ryan; Boyer, Matthew; Kalinowski, Steven T.

    2016-01-01

    Invasive hybridization is one of the greatest threats to the persistence of Westslope Cutthroat Trout Oncorhynchus clarkii lewisi. Large protected areas, where nonhybridized populations are interconnected and express historical life history and genetic diversity, provide some of the last ecological and evolutionary strongholds for conserving this species. Here, we describe the genetic status and distribution of Westslope Cutthroat Trout throughout Glacier National Park, Montana. Admixture between Westslope Cutthroat Trout and introduced Rainbow Trout O. mykiss and Yellowstone Cutthroat Trout O. clarkii bouvieri was estimated by genotyping 1,622 fish collected at 115 sites distributed throughout the Columbia, Missouri, and South Saskatchewan River drainages. Currently, Westslope Cutthroat Trout occupy an estimated 1,465 km of stream habitat and 45 lakes (9,218 ha) in Glacier National Park. There was no evidence of introgression in samples from 32 sites along 587 km of stream length (40% of the stream kilometers currently occupied) and 17 lakes (2,555 ha; 46% of the lake area currently occupied). However, nearly all (97%) of the streams and lakes that were occupied by nonhybridized populations occurred in the Columbia River basin. Based on genetic status (nonnative genetic admixture ≤ 10%), 36 Westslope Cutthroat Trout populations occupying 821 km of stream and 5,482 ha of lakes were identified as “conservation populations.” Most of the conservation populations (N = 27; 736 km of stream habitat) occurred in the Columbia River basin, whereas only a few geographically restricted populations were found in the South Saskatchewan River (N = 7; 55 km) and Missouri River (N = 2; 30 km) basins. Westslope Cutthroat Trout appear to be at imminent risk of genomic extinction in the South Saskatchewan and Missouri River basins, whereas populations in the Columbia River basin are widely distributed and conservation efforts are actively addressing threats from

  2. Genetic diversity and population structure of the Ethiopian sorghum [Sorghum bicolor (L.) Moench] germplasm collection maintained by the USDA-ARS, National Plant Germplasm System using SSR markers

    USDA-ARS?s Scientific Manuscript database

    The genetic diversity and population structure present in the Ethiopia sorghum collection maintained by the USDA-ARS, National Plant Germplasm System (USDA-ARS-NPGS) is unknown. In addition, passport information is absent for 83% of these accessions which limit its evaluation and utility. Therefor...

  3. Genotype by environment interaction effects in genetic evaluation of preweaning gain for Line 1 Hereford cattle from Miles City, Montana.

    PubMed

    MacNeil, M D; Cardoso, F F; Hay, E

    2017-09-01

    It has long been recognized that genotype × environment interaction potentially influences genetic evaluation of beef cattle. However, this recognition has largely been ignored in systems for national cattle evaluation. The objective of this investigation was to determine if direct and maternal genetic effects on preweaning gain would be reranked depending on an environmental gradient as determined by year effects. Data used were from the 76-yr selection experiment with the Line 1 Hereford cattle raised at Miles City, MT. The data comprised recorded phenotypes from 7,566 animals and an additional 1,862 ancestral records included in the pedigree. The presence of genotype × environment interaction was examined using reaction norms wherein year effects on preweaning gain were hypothesized to linearly influence the EBV. Estimates of heritability for direct and maternal effects, given the average environment, were 10 ± 2 and 26 ± 3%, respectively. In an environment that is characterized by the 5th (95th) percentile of the distribution of year effects, the corresponding estimates of heritability were 18 ± 3 (22 ± 3%) and 30 ± 3% (30 ± 3%), respectively. Rank correlations of direct and maternal EBV appropriate to the 5th and 95th percentiles of the year effects were 0.67 and 0.92, respectively. In the average environment, the genetic trends were 255 ± 1 g/yr for direct effects and 557 ± 3 g/yr for maternal effects. In the fifth percentile environment, the corresponding estimates of genetic trend were 271 ± 1 and 540 ± 3 g/yr, respectively, and in the 95th percentile environment, they were 236 ± 1 and 578 ± 3 g/yr, respectively. Linear genetic trends in environmental sensitivity were observed for both the direct (-8.06 × 10 ± 0.49 × 10) and maternal (8.72 × 10 ± 0.43 × 10) effects. Therefore, changing systems of national cattle evaluation to more fully account for potential genotype × environment interaction would improve the assessment of breeding

  4. Genetically altered mice for evaluation of mode-of-action (MOA)

    EPA Science Inventory

    Genetically altered mice for evaluation of mode-of-action (MOA). Barbara D. Abbott, Cynthia J. Wolf, Kaberi P. Das, Christopher S. Lau. (Presented by B. Abbott). This presentation provides an example of the use of genetically modified mice to determine the mode-of-action of r...

  5. Assessing Genetic Literacy Awareness and Knowledge Gaps in the US Population: Results from the Health Information National Trends Survey.

    PubMed

    Krakow, Melinda; Ratcliff, Chelsea L; Hesse, Bradford W; Greenberg-Worisek, Alexandra J

    2018-05-31

    Public understanding of the role of genetics in disease risk is key to appropriate disease prevention and detection. This study assessed the current extent of awareness and use of genetic testing in the US population. Additionally, the study identified characteristics of subgroups more likely to be at risk for low genetic literacy. The study used data from the National Cancer Institute's 2017 Health Information National Trends Survey, including measures of genetic testing awareness, genetic testing applications and genetic testing usage. Multivariable logistic regression models estimated associations between sociodemographics, genetic testing awareness, and genetic testing use. Fifty-seven percent of respondents were aware of genetic tests. Testing awareness differed by age, household income, and race/ethnicity. Most participants had heard of using tests to determine personal disease risk (82.58%) or inherited disease risk in children (81.41%), but less were familiar with determining treatment (38.29%) or drug efficacy (40.76%). Among those with genetic testing awareness, actual testing uptake was low. A large portion of the general public lacks genetic testing awareness and may benefit from educational campaigns. As precision medicine expands, increasing public awareness about genetic testing applications for disease prevention and treatment will be important to support population health. This is a work of the US Government and is not subject to copyright protection in the United States. Foreign copyrights may apply. Published by S. Karger AG, Basel.

  6. 78 FR 14549 - National Contact Center; Information Collection; National Contact Center Customer Evaluation Survey

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-03-06

    ...] National Contact Center; Information Collection; National Contact Center Customer Evaluation Survey AGENCY: Contact Center Services, Federal Citizen Information Center, Office of Citizen Services and Innovative... National Contact Center customer evaluation surveys. In this request, the previously approved surveys have...

  7. Genetic evaluation of aspects of temperament in Nellore-Angus calves.

    PubMed

    Riley, D G; Gill, C A; Herring, A D; Riggs, P K; Sawyer, J E; Lunt, D K; Sanders, J O

    2014-08-01

    The objective of this work was to estimate heritability of each of 5 subjectively measured aspects of temperament of cattle and the genetic correlations of pairs of those traits. From 2003 to 2013, Nellore-Angus F2 and F3 calves (n = 1,816) were evaluated for aspects of temperament at an average 259 d of age, which was approximately 2 mo after weaning. Calves were separated from a group and subjectively scored from 1 (calm, good temperament) to 9 (wild, poor temperament) for aggressiveness (willingness to hit an evaluator), nervousness, flightiness, gregariousness (willingness to separate from the group), and a distinct overall score by 4 evaluators. Data were analyzed using threshold and linear models with additive genetic random effects. Two-trait animal models (nonthreshold) included the additive genetic covariance for pairs of traits and were used to estimate additive genetic correlations. Contemporary groups (n = 104) represented calves penned together for evaluation on given evaluation days. Heifers had greater (worse) means for all traits than steers (P < 0.05). The regression of score on age in days was included in final models for flightiness (P = 0.05; -0.006 ± 0.003) and gregariousness (P = 0.025; -0.007 ± 0.003). Estimates of heritability were large (0.51, 0.4, 0.45, 0.49, and 0.47 for aggressiveness, nervousness, flightiness, gregariousness, and overall temperament, respectively; SE = 0.07 for each). The ability to use this methodology to distinctly separate different aspects of calf temperament appeared to be limited, as estimates of additive genetic correlations were near unity for all pairs of traits; estimates of phenotypic correlation ranged from 0.88 ± 0.01 to 0.99 ± 0.002 for pairs of traits. Distinct subsequent analyses indicated a significant negative relationship of 4 of the various temperament scores with weight at weaning (regression coefficients ranged from -0.008 ± 0.002 for nervousness, flightiness, and gregariousness to -0.003 ± 0

  8. An economic evaluation of a genetic screening program for Tay-Sachs disease.

    PubMed Central

    Nelson, W B; Swint, J M; Caskey, C T

    1978-01-01

    The resolution of policy questions relating to medical genetic screening programs will not be without considerable difficulty. Examples include such issues as the optimal degree of screening program expansion, the relative values of screening for different genetic diseases, the appropriate sources of program funding (public vs. private), and the relative value of funding expanded genetic screening programs vs. research directed toward elimination of genetic traits themselves. Information on the net impact of the relevant alternatives is greatly needed, and this need will increase if the National Genetics Act receives funding approval. We have provided what is hopefully a contribution toward this end. While our analysis pertains to a specific disease and a specific screening program for that disease, the methodology is readily generalizable to other genetic diseases, as well as programs of any size or structure. Hopefully, this will serve to stimulate further research efforts that we believe are needed for the objective consideration of resource allocation alternatives. PMID:418675

  9. An economic evaluation of a genetic screening program for Tay-Sachs disease.

    PubMed

    Nelson, W B; Swint, J M; Caskey, C T

    1978-03-01

    The resolution of policy questions relating to medical genetic screening programs will not be without considerable difficulty. Examples include such issues as the optimal degree of screening program expansion, the relative values of screening for different genetic diseases, the appropriate sources of program funding (public vs. private), and the relative value of funding expanded genetic screening programs vs. research directed toward elimination of genetic traits themselves. Information on the net impact of the relevant alternatives is greatly needed, and this need will increase if the National Genetics Act receives funding approval. We have provided what is hopefully a contribution toward this end. While our analysis pertains to a specific disease and a specific screening program for that disease, the methodology is readily generalizable to other genetic diseases, as well as programs of any size or structure. Hopefully, this will serve to stimulate further research efforts that we believe are needed for the objective consideration of resource allocation alternatives.

  10. Computational Integration of Human Genetic Data to Evaluate AOP-Specific Susceptibility

    EPA Science Inventory

    There is a need for approaches to efficiently evaluate human genetic variability and susceptibility related to environmental chemical exposure. Direct estimation of the genetic contribution to variability in susceptibility to environmental chemicals is only possible in special ca...

  11. Dominance genetic and maternal effects for genetic evaluation of egg production traits in dual-purpose chickens.

    PubMed

    Jasouri, M; Zamani, P; Alijani, S

    2017-10-01

    1. A study was conducted to study direct dominance genetic and maternal effects on genetic evaluation of production traits in dual-purpose chickens. The data set consisted of records of body weight and egg production of 49 749 Mazandaran fowls from 19 consecutive generations. Based on combinations of different random effects, including direct additive and dominance genetic and maternal additive genetic and environmental effects, 8 different models were compared. 2. Inclusion of a maternal genetic effect in the models noticeably improved goodness of fit for all traits. Direct dominance genetic effect did not have noticeable effects on goodness of fit but simultaneous inclusion of both direct dominance and maternal additive genetic effects improved fitting criteria and accuracies of genetic parameter estimates for hatching body weight and egg production traits. 3. Estimates of heritability (h 2 ) for body weights at hatch, 8 weeks and 12 weeks of age (BW0, BW8 and BW12, respectively), age at sexual maturity (ASM), average egg weights at 28-32 weeks of laying period (AEW), egg number (EN) and egg production intensity (EI) were 0.08, 0.21, 0.22, 0.22, 0.21, 0.09 and 0.10, respectively. For BW0, BW8, BW12, ASM, AEW, EN and EI, proportion of dominance genetic to total phenotypic variance (d 2 ) were 0.06, 0.08, 0.01, 0.06, 0.06, 0.08 and 0.07 and maternal heritability estimates (m 2 ) were 0.05, 0.04, 0.03, 0.13, 0.21, 0.07 and 0.03, respectively. Negligible coefficients of maternal environmental effect (c 2 ) from 0.01 to 0.08 were estimated for all traits, other than BW0, which had an estimate of 0.30. 4. Breeding values (BVs) estimated for body weights at early ages (BW0 and BW8) were considerably affected by components of the models, but almost similar BVs were estimated by different models for higher age body weight (BW12) and egg production traits (ASM, AEW, EN and EI). Generally, it could be concluded that inclusion of maternal effects (both genetic and

  12. How is genetic testing evaluated? A systematic review of the literature.

    PubMed

    Pitini, Erica; De Vito, Corrado; Marzuillo, Carolina; D'Andrea, Elvira; Rosso, Annalisa; Federici, Antonio; Di Maria, Emilio; Villari, Paolo

    2018-05-01

    Given the rapid development of genetic tests, an assessment of their benefits, risks, and limitations is crucial for public health practice. We performed a systematic review aimed at identifying and comparing the existing evaluation frameworks for genetic tests. We searched PUBMED, SCOPUS, ISI Web of Knowledge, Google Scholar, Google, and gray literature sources for any documents describing such frameworks. We identified 29 evaluation frameworks published between 2000 and 2017, mostly based on the ACCE Framework (n = 13 models), or on the HTA process (n = 6), or both (n = 2). Others refer to the Wilson and Jungner screening criteria (n = 3) or to a mixture of different criteria (n = 5). Due to the widespread use of the ACCE Framework, the most frequently used evaluation criteria are analytic and clinical validity, clinical utility and ethical, legal and social implications. Less attention is given to the context of implementation. An economic dimension is always considered, but not in great detail. Consideration of delivery models, organizational aspects, and consumer viewpoint is often lacking. A deeper analysis of such context-related evaluation dimensions may strengthen a comprehensive evaluation of genetic tests and support the decision-making process.

  13. Population genetics of the California National Primate Research Center’s (CNPRC) captive Callicebuscupreus colony

    PubMed Central

    Mendoza, Adrian; Ng, Jillian; Bales, Karen; Mendoza, Sally P.; George, Debra A.; Smith, David Glenn; Kanthaswamy, Sree

    2014-01-01

    The California National Primate Research Center (CNPRC) maintains a small colony of titi monkeys (Callicebuscupreus) for behavioral studies. While short tandem repeat (STR) markers are critical for the genetic management of the center’s rhesus macaque (Macacamulatta) breeding colony, STRs are not used for this purpose in the maintenance of the center’s titi monkey colony. Consequently, the genetic structure of this titi monkey population has not been characterized. A lack of highly informative genetic markers in titi monkeys has also resulted in scant knowledge of the species’ genetic variation in the wild. The purpose of this study was to develop a panel of highly polymorphic titi monkey STRs using a cross-species PCR amplification protocol that could be used for the genetic management of the titi monkey colony. We screened 16 STR primer pairs and selected those that generated robust and reproducible polymorphic amplicons. Loci that were found to be highly polymorphic, very likely to be useful for parentage verification, pedigree assessment, and for studying titi monkey population genetics, were validated using Hardy-Weinberg equilibrium and linkage disequilibrium analyses. The genetic data generated in this study were also used to directly assess the impact of a recent adenovirus outbreak on the colony’s genetic diversity. While the adenovirus epizootic disease caused significant mortality (19 deaths among the 65 colony animals), our results suggest that the disease exhibited little or no influence on the overall genetic diversity of the colony. PMID:25179309

  14. Prioritization of Malus accessions for collection cryopreservation at the USDA-ARS National Center for Genetic Resources Preservation

    USDA-ARS?s Scientific Manuscript database

    The USDA-ARS National Plant Germplasm System maintains a grafted collection of apple accessions representing 49 taxa in Geneva, NY. Dormant buds of many of these accessions have been routinely cryopreserved at the USDA-ARS National Center for Genetic Resources Preservation (NCGRP) in Fort Collins, C...

  15. 75 FR 6032 - National Contact Center; Submission for OMB Review; National Contact Center Customer Evaluation...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-02-05

    ... GENERAL SERVICES ADMINISTRATION [OMB Control No. 3090-0278] National Contact Center; Submission for OMB Review; National Contact Center Customer Evaluation Survey AGENCY: Citizen Services and... collection requirement regarding the National Contact Center customer evaluation survey. A request for public...

  16. Early genetic evaluation of open-pollinated Douglas-fir families

    Treesearch

    Kurt H. Riitters; David A. Perry

    1987-01-01

    In a test of early genetic evaluation of the growth potential of 14 families of open-pollinated Douglas-fir (Pseudotsuga menziesii) [Mirb.] Franco), measures of growth and phenology of seedligns grown in a coldframe were correlated with height of saplings in evaluation plantations at 9, 12, and 15 years. fifteen-year height was most strongly...

  17. Multiple trait genetic evaluation of clinical mastitis in three dairy cattle breeds.

    PubMed

    Govignon-Gion, A; Dassonneville, R; Baloche, G; Ducrocq, V

    2016-04-01

    In 2010, a routine genetic evaluation on occurrence of clinical mastitis in three main dairy cattle breeds-- Montbéliarde (MO), Normande (NO) and Holstein (HO)--was implemented in France. Records were clinical mastitis events reported by farmers to milk recording technicians and the analyzed trait was the binary variable describing the occurrence of a mastitis case within the first 150 days of the first three lactations. Genetic parameters of clinical mastitis were estimated for the three breeds. Low heritability estimates were found: between 2% and 4% depending on the breed. Despite its low heritability, the trait exhibits genetic variation so efficient genetic improvement is possible. Genetic correlations with other traits were estimated, showing large correlations (often>0.50, in absolute value) between clinical mastitis and somatic cell score (SCS), longevity and some udder traits. Correlation with milk yield was moderate and unfavorable (ρ=0.26 to 0.30). High milking speed was genetically associated with less mastitis in MO (ρ=-0.14) but with more mastitis in HO (ρ=0.18). A two-step approach was implemented for routine evaluation: first, a univariate evaluation based on a linear animal model with permanent environment effect led to pre-adjusted records (defined as records corrected for all non-genetic effects) and associated weights. These data were then combined with similar pre-adjusted records for others traits in a multiple trait BLUP animal model. The combined breeding values for clinical mastitis obtained are the official (published) ones. Mastitis estimated breeding values (EBV) were then combined with SCSs EBV into an udder health index, which receives a weight of 14.5% to 18.5% in the French total merit index (ISU) of the three breeds. Interbull genetic correlations for mastitis occurrence were very high (ρ=0.94) with Nordic countries, where much stricter recording systems exist reflecting a satisfactory quality of phenotypes as reported by the

  18. 78 FR 30303 - National Contact Center; Submission for OMB Review; National Contact Center Customer Evaluation...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-05-22

    ...] National Contact Center; Submission for OMB Review; National Contact Center Customer Evaluation Survey AGENCY: Contact Center Services, Federal Citizen Information Center, Office of Citizen Services and... regarding the National Contact Center customer evaluation surveys. In this request, the previously approved...

  19. Genetic evaluation of Jatropha curcas: an important oilseed for biodiesel production.

    PubMed

    Freitas, R G; Missio, R F; Matos, F S; Resende, M D V; Dias, L A S

    2011-01-01

    Jatropha curcas, internationally and locally known, respectively, as physic nut and pinhão manso, is a highly promising species for biodiesel production in Brazil and other countries in the tropics. It is rustic, grows in warm regions and is easily cultivated. These characteristics and high-quality oil yields from the seeds have made this plant a priority for biodiesel programs in Brazil. Consequently, this species merits genetic investigations aimed at improving yields. Some studies have detected genetic variability in accessions in Africa and Asia. We have made the first genetic evaluation of J. curcas collected from Brazil. Our objective was to quantify genetic diversity and to estimate genetic parameters for growth and production traits and seed oil content. We evaluated 75 J. curcas progenies collected from Brazil and three from Cambodia. The mean oil content in the seeds was 31%, ranging from 16 to 45%. No genetic correlation between growth traits and seed oil content was found. However, high coefficients of genetic variation were found for plant height, number of branches, height of branches, and stem diameter. The highest individual narrow-sense heritabilities were found for leaf length (0.35) and width (0.34), stem diameter (0.24) and height of branches (0.21). We used a clustering algorithm to genetically identify the closest and most distant progenies, to assist in the development of new cultivars. Geographical diversity did not necessarily represent the genetic diversity among the accessions collected. These results are important for the continuity of breeding programs, aimed at obtaining cultivars with high grain yield and high oil content in seeds.

  20. Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss

    PubMed Central

    2002-01-01

    The advent of hearing screening in newborns in many states has led to an increase in the use of genetic testing and related genetic services in the follow-up of infants with hearing loss. A significant proportion of those with congenital hearing loss have genetic etiologies underlying their hearing loss. To ensure that those identified with congenital hearing loss receive the genetic services appropriate to their conditions, the Maternal and Child Health Bureau of the Health Resources and Services Administration funded the American College of Medical Genetics to convene an expert panel to develop guidelines for the genetic evaluation of congential hearing loss. After a brief overview of the current knowledge of hearing loss, newborn screening, and newborn hearing screening, we provide an overview of genetic services and a guideline that describes how best to ensure that patients receive appropriate genetic services. The significant contribution of genetic factors to these conditions combined with the rapid evolution of knowledge about the genetics of these conditions overlaid with the inherently multidisciplinary nature of genetic services provides an example of a condition for which a well-integrated multidisciplinary approach to care is clearly needed. PMID:12180152

  1. Population genetics and evaluation of genetic evidence for subspecies in the Semipalmated Sandpiper (Calidris pusilla)

    USGS Publications Warehouse

    Miller, Mark P.; Gratto-Trevor, Cheri; Haig, Susan M.; Mizrahi, David S.; Mitchell, Melanie M.; Mullins, Thomas D.

    2013-01-01

    Semipalmated Sandpipers (Calidris pusilla) are among the most common North American shorebirds. Breeding in Arctic North America, this species displays regional differences in migratory pathways and possesses longitudinal bill length variation. Previous investigations suggested that genetic structure may occur within Semipalmated Sandpipers and that three subspecies corresponding to western, central, and eastern breeding groups exist. In this study, mitochondrial control region sequences and nuclear microsatellite loci were used to analyze DNA of birds (microsatellites: n = 120; mtDNA: n = 114) sampled from seven North American locations. Analyses designed to quantify genetic structure and diversity patterns, evaluate genetic evidence for population size changes, and determine if genetic data support the existence of Semipalmated Sandpiper subspecies were performed. Genetic structure based only on the mtDNA data was observed, whereas the microsatellite loci provided no evidence of genetic differentiation. Differentiation among locations and regions reflected allele frequency differences rather than separate phylogenetic groups, and similar levels of genetic diversity were noted. Combined, the two data sets provided no evidence to support the existence of subspecies and were not useful for determining migratory connectivity between breeding sites and wintering grounds. Birds from western and central groups displayed signatures of population expansions, whereas the eastern group was more consistent with a stable overall population. Results of this analysis suggest that the eastern group was the source of individuals that colonized the central and western regions currently utilized by Semipalmated Sandpipers.

  2. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

    PubMed

    Hampel, Heather; Bennett, Robin L; Buchanan, Adam; Pearlman, Rachel; Wiesner, Georgia L

    2015-01-01

    The practice guidelines of the American College of Medical Genetics and Genomics (ACMG) and the National Society of Genetic Counselors (NSGC) are developed by members of the ACMG and NSGC to assist medical geneticists, genetic counselors, and other health-care providers in making decisions about appropriate management of genetic concerns, including access to and/or delivery of services. Each practice guideline focuses on a clinical or practice-based issue and is the result of a review and analysis of current professional literature believed to be reliable. As such, information and recommendations within the ACMG and NSGC joint practice guidelines reflect the current scientific and clinical knowledge at the time of publication, are current only as of their publication date, and are subject to change without notice as advances emerge. In addition, variations in practice, which take into account the needs of the individual patient and the resources and limitations unique to the institution or type of practice, may warrant approaches, treatments, and/or procedures that differ from the recommendations outlined in this guideline. Therefore, these recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. Genetic counseling practice guidelines are never intended to displace a health-care provider's best medical judgment based on the clinical circumstances of a particular patient or patient population. Practice guidelines are published by the ACMG or the NSGC for educational and informational purposes only, and neither the ACMG nor the NSGC "approve" or "endorse" any specific methods, practices, or sources of information.Cancer genetic consultation is an important aspect of the care of individuals at increased risk of a hereditary cancer syndrome. Yet several patient, clinician, and system-level barriers hinder identification of individuals appropriate for cancer genetics

  3. National Fuel Cell Technology Evaluation Center | Hydrogen and Fuel Cells |

    Science.gov Websites

    NREL National Fuel Cell Technology Evaluation Center National Fuel Cell Technology Evaluation Center The National Fuel Cell Technology Evaluation Center (NFCTEC) at NREL's Energy Systems Integration Cell Technology Evaluation Center to process and analyze data for a variety of hydrogen and fuel cell

  4. Genetic Influences on Language, Reading, and Mathematics Skills in a National Sample: An Analysis Using the National Longitudinal Survey of Youth

    ERIC Educational Resources Information Center

    Hart, Sara A.; Petrill, Stephen A.; Kamp Dush, Claire M.

    2010-01-01

    Purpose: The present study had two purposes: provide an illustration of use of the National Longitudinal Survey of Youth 1979 Children's (CNLSY; U.S. Department of Labor, 2009) database and use the database to seek convergent evidence regarding the magnitude and significance of genetic effects influencing low and typical performers on measures of…

  5. Aerodynamic Optimization of a Supersonic Bending Body Projectile by a Vector-Evaluated Genetic Algorithm

    DTIC Science & Technology

    2016-12-01

    Evaluated Genetic Algorithm prepared by Justin L Paul Academy of Applied Science 24 Warren Street Concord, NH 03301 under contract W911SR...Supersonic Bending Body Projectile by a Vector-Evaluated Genetic Algorithm prepared by Justin L Paul Academy of Applied Science 24 Warren Street... Genetic Algorithm 5a. CONTRACT NUMBER W199SR-15-2-001 5b. GRANT NUMBER 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) Justin L Paul 5d. PROJECT

  6. Genetic evaluation of mastitis liability and recovery through longitudinal analysis of transition probabilities

    PubMed Central

    2012-01-01

    Background Many methods for the genetic analysis of mastitis use a cross-sectional approach, which omits information on, e.g., repeated mastitis cases during lactation, somatic cell count fluctuations, and recovery process. Acknowledging the dynamic behavior of mastitis during lactation and taking into account that there is more than one binary response variable to consider, can enhance the genetic evaluation of mastitis. Methods Genetic evaluation of mastitis was carried out by modeling the dynamic nature of somatic cell count (SCC) within the lactation. The SCC patterns were captured by modeling transition probabilities between assumed states of mastitis and non-mastitis. A widely dispersed SCC pattern generates high transition probabilities between states and vice versa. This method can model transitions to and from states of infection simultaneously, i.e. both the mastitis liability and the recovery process are considered. A multilevel discrete time survival model was applied to estimate breeding values on simulated data with different dataset sizes, mastitis frequencies, and genetic correlations. Results Correlations between estimated and simulated breeding values showed that the estimated accuracies for mastitis liability were similar to those from previously tested methods that used data of confirmed mastitis cases, while our results were based on SCC as an indicator of mastitis. In addition, unlike the other methods, our method also generates breeding values for the recovery process. Conclusions The developed method provides an effective tool for the genetic evaluation of mastitis when considering the whole disease course and will contribute to improving the genetic evaluation of udder health. PMID:22475575

  7. Competences, education and support for new roles in cancer genetics services: outcomes from the cancer genetics pilot projects.

    PubMed

    Bennett, Catherine; Burton, Hilary; Farndon, Peter

    2007-01-01

    In 2004 the Department of Health in collaboration with Macmillan Cancer Support set up service development projects to pilot the integration of genetics in mainstream medicine in the area of cancer genetics.In developing these services, new roles and responsibilities were devised that required supporting programmes of education and training. The NHS National Genetics Education and Development Centre has worked with the projects to draw together their experience in these aspects. New roles include the Cancer Family Nurse Specialist, in which a nurse working in a cancer setting was trained to identify and manage genetic or family history concerns, and the Genetic Risk Assessment Practitioner--a small team of practitioners working within a secondary care setting to deliver a standardised risk assessment pathway. Existing roles were also adapted for a different setting, in particular the use of genetic counsellors working in a community ethnic minority setting. These practitioners undertook a range of clinical activities that can be mapped directly to the 'UK National Workforce Competences for Genetics in Clinical Practice for Non-genetics Healthcare Staff' framework developed by Skills for Health and the NHS National Genetics Education and Development Centre (2007; draft competence framework). The main differences between the various roles were in the ordering of genetic tests and the provision of advice on invasive preventive options such as mastectomy. Those involved in service development also needed to develop competences in project management, business skills, audit and evaluation, working with users, general management (personnel, multi-agency work and marketing), educational supervision, IT, public and professional outreach, and research. Important resources to support the development of new roles and competences included pathways and guidelines, a formal statement of competences, a recognised syllabus, appropriate and timely courses, the availability of a

  8. Evaluation of the National FFA Nominating Committee Training

    ERIC Educational Resources Information Center

    Bruce, Jacklyn; Ricketts, Kristina

    2007-01-01

    The purpose of this qualitative study was to evaluate if the environment of the National FFA Organization's Nominating Committee training fosters transfer of training to the job they are required to perform, selecting National FFA Officers. Nominating Committee members, advisors, National FFA staff, and National Officer candidates participated in…

  9. Framework for a National Testing and Evaluation Program ...

    EPA Pesticide Factsheets

    Abstract:The National STEPP Program seeks to improve water quality by accelerating the effective implementation and adoption of innovative stormwater management technologies. Itwill attempt to accomplish this by establishing practices through highly reliable, and cost-effective Stormwater control measures (SCM) testing, evaluation, and verification services. The program will aim to remove barriers to innovation, minimize duplicative performance evaluation needs, increase confidence that regulatory requirements are met by creating consistency among testing and evaluation protocols, and establishing equity between public domain and proprietary SCM evaluation approaches.The Environmental Technology Verification Program, established by the U.S. Environmental Protection Agency (EPA) 18 years ago, was the only national program of its kindin the stormwater sector, but is now defunct, leaving a national leadership void. The STEPP initiative was triggered in part by regulatory demands in the government and private sectors to fill this vacuum. A concerted focus and study of this matter led to the release of a Water Environment Federation (WEF) white paper entitled “Investigation into the Feasibility of a National Testing and Evaluation Program for Stormwater Products and Practices” in February 2014. During this second phase of the STEPP initiative, and with EPA support, five analogous technology evaluation programs related to both stormwater and non-stormwater were an

  10. [The role of S.N. Davidenkov School in becoming of national neuro-genetics].

    PubMed

    Fando, R A

    2013-01-01

    The article considers the biography of prominent Russian scientist, full member of the Academy of medical sciences of the USSR Sergei Nikolayevitch Davidenkov studying genetics of nervous diseases. The main directions of activities of the scientific school created by him are analyzed. The significance of this school in development of biology and medicine is established. The staff organizational structure, specificity of considered scientific school are established. The role of leader in organization of non-formal research community and development of scientific program is demonstrated. It is marked that in solution of many fundamental and practical tasks of medical genetics an immense merit belonged to scientific schools as a "strong side" of national science of the first half of XX century.

  11. Climbing the Ladder: Experience with Developing a Large Group Genetic Counselor Career Ladder at Children's National Health System.

    PubMed

    Kofman, Laura; Seprish, Mary Beth; Summar, Marshall

    2016-08-01

    Children's National Health System (CNHS) is a not-for-profit pediatric hospital that employs around twenty genetic counselors in a range of specialties, including clinical pediatric, neurology, fetal medicine, research, and laboratory. CNHS lacked a structured system of advancement for their genetic counselors; therefore, a formal career ladder was proposed by the genetic counselors based on years of experience, responsibility, and job performance. This career ladder utilized monetary, academic, and seniority incentives to encourage advancement and continue employment at CNHS. The creation and ultimate approval of the career ladder required direct input from genetic counselors, Department Chairs, and Human Resource personnel. The establishment of a genetic counselor career ladder at CNHS will hopefully benefit the profession of genetic counselors as a whole and allow other facilities to create and maintain their own career ladder to meet the needs of the growing, competitive, field of genetic counseling.

  12. Fifty years after Welles and Welles: Distribution and genetic structure of Desert Bighorn Sheep in Death Valley National Park

    USGS Publications Warehouse

    Epps, Clinton W.; Wehausen, John D.; Sloan, William B.; Holt, Stacy; Creech, Tyler G.; Crowhurst, Rachel S.; Jaeger, Jef R.; Longshore, Kathleen M.; Monello, Ryan J.

    2013-01-01

    Where possible, we revisited many of the water sources and other locations originally investigated by Welles and Welles (1961) and earlier researchers. We extracted DNA from fecal pellets, carcass tissue samples, and blood samples archived from earlier captures and genotyped them using highly variable genetic markers (15 microsatellite loci) with sufficient power to distinguish individuals and characterize gene flow and genetic structure. We also analyzed DNA samples collected from other bighorn sheep populations extending north to the White Mountains, west to the Inyo Mountains, south to the Avawatz Mountains, and southeast to the Clark Mountain Range, Kingston Range, and Spring Mountains of Nevada. We estimated genetic structure and recent gene flow among nearly all known populations of bighorn sheep in and around Death Valley National Park (DEVA), and used assignment tests to evaluate individual and population-level genetic structure to infer connectivity across the region. We found that bighorn sheep are still widely distributed in mountain ranges throughout DEVA, including many of the areas described by Welles and Welles (1961), although some use patterns appear to have changed and other areas still require resurvey. Gene flow was relatively high through some sections of fairly continuous habitat, such as the Grapevine and Funeral Mountains along the eastern side of Death Valley, but other populations were more isolated. Genetic diversity was relatively high throughout the park. Although southern Death Valley populations were genetically distinct from populations to the southeast, population assignment tests and recent gene flow estimates suggested that individuals occasionally migrate between those regions, indicating the potential for the recent outbreak of respiratory disease in the southern Mojave Desert to spread into the Death Valley system. We recommend careful monitoring of bighorn sheep using remote cameras to check for signs of respiratory disease in

  13. Public Awareness of Direct-to-Consumer Genetic Tests: Findings from the 2013 U.S. Health Information National Trends Survey.

    PubMed

    Agurs-Collins, Tanya; Ferrer, Rebecca; Ottenbacher, Allison; Waters, Erika A; O'Connell, Mary E; Hamilton, Jada G

    2015-12-01

    Although the availability of direct-to-consumer (DTC) genetic testing has increased in recent years, the general public's awareness of this testing is not well understood. This study examined levels of public awareness of DTC genetic testing, sources of information about testing, and psychosocial factors associated with awareness of testing in the USA. Data were obtained from the nationally representative 2013 U.S. Health Information National Trends Survey. Guided by a social-cognitive conceptual framework, univariable and multivariable logistic regressions were conducted to identify factors associated with awareness of DTC genetic tests. Of 3185 participants, 35.6% were aware of DTC genetic tests, with the majority learning about these tests through radio, television, and the Internet. In the final adjusted model, participants with annual incomes of $99,999 or less had lower odds of being aware of DTC genetic testing (ORs ranging from 0.46-0.61) than did those participants with incomes of $100,000 or more. The odds of awareness of DTC genetic tests were significantly higher for those who actively seek cancer information (OR=1.91, 95% CI=1.36-2.69), use the Internet (OR=1.81, 95% CI=1.05-3.13), and have high numeracy skills (OR=1.67, 95% CI=1.17-2.38). It will be critical for healthcare researchers and practitioners to understand predictors and consequences of the public's awareness of DTC genetic tests, as well as how such awareness may translate into DTC genetic testing uptake, health behavior change, and ultimately disease prevention.

  14. National Newborn Screening and Genetics Resource Center

    MedlinePlus

    ... GENERAL INFORMATION Conditions Screened by US Programs General Resources Genetics Birth Defects Hearing Screening FOR PROFESSIONALS ACT Sheets(ACMG) General Resources Newborn Screening Genetics Birth Defects FOR FAMILIES FAQs ...

  15. Genetic Evaluation for the Scoliosis Gene(s) in Patients with Neurofibromatosis 1 and Scoliosis

    DTIC Science & Technology

    2012-08-01

    AD_________________ Award Number: W81XWH-10-1-0469 TITLE: Genetic Evaluation for the Scoliosis ...Gene(s) in Patients with Neurofibromatosis 1 and Scoliosis PRINCIPAL INVESTIGATOR: David W. Polly, Jr., M.D...2011 – 31 July 2012 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER Genetic Evaluation for the Scoliosis Gene(s) in Patients with Neurofibromatosis 1

  16. Genetic overlap between impulsivity and alcohol dependence: a large-scale national twin study.

    PubMed

    Khemiri, L; Kuja-Halkola, R; Larsson, H; Jayaram-Lindström, N

    2016-04-01

    Alcohol dependence is associated with increased levels of impulsivity, but the genetic and environmental underpinnings of this overlap remain unclear. The purpose of the current study was to investigate the degree to which genetic and environmental factors contribute to the overlap between alcohol dependence and impulsivity. Univariate and bivariate twin model fitting was conducted for alcohol dependence and impulsivity in a national sample of 16 819 twins born in Sweden from 1959 to 1985. The heritability estimate for alcohol dependence was 44% [95% confidence interval (CI) 31-57%] for males and 62% (95% CI 52-72%) for females. For impulsivity, the heritability was 33% (95% CI 30-36%) in males and females. The bivariate twin analysis indicated a statistically significant genetic correlation between alcohol dependence and impulsivity of 0.40 (95% CI 0.23-0.58) in males and 0.20 (95% CI 0.07-0.33) in females. The phenotypic correlation between alcohol dependence and impulsivity was 0.20 and 0.17 for males and females, respectively, and the bivariate heritability was 80% (95% CI 47-117%) for males and 53% (95% CI 19-86%) for females. The remaining variance in all models was accounted for by non-shared environmental factors. The association between alcohol dependence and impulsivity can be partially accounted for by shared genetic factors. The genetic correlation was greater in men compared with women, which may indicate different pathways to the development of alcohol dependence between sexes. The observed genetic overlap has clinical implications regarding treatment and prevention, and partially explains the substantial co-morbidity between alcohol dependence and psychiatric disorders characterized by impulsive behaviour.

  17. 75 FR 63497 - National Institute on Aging; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-15

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute on Aging... personal privacy. Name of Committee: National Institute on Aging Special Emphasis Panel; Genetic Determinants of Healthy Aging. Date: November 10, 2010. Time: 1 p.m. to 5 p.m. Agenda: To review and evaluate...

  18. ETHNOS: A versatile electronic tool for the development and curation of national genetic databases

    PubMed Central

    2010-01-01

    National and ethnic mutation databases (NEMDBs) are emerging online repositories, recording extensive information about the described genetic heterogeneity of an ethnic group or population. These resources facilitate the provision of genetic services and provide a comprehensive list of genomic variations among different populations. As such, they enhance awareness of the various genetic disorders. Here, we describe the features of the ETHNOS software, a simple but versatile tool based on a flat-file database that is specifically designed for the development and curation of NEMDBs. ETHNOS is a freely available software which runs more than half of the NEMDBs currently available. Given the emerging need for NEMDB in genetic testing services and the fact that ETHNOS is the only off-the-shelf software available for NEMDB development and curation, its adoption in subsequent NEMDB development would contribute towards data content uniformity, unlike the diverse contents and quality of the available gene (locus)-specific databases. Finally, we allude to the potential applications of NEMDBs, not only as worldwide central allele frequency repositories, but also, and most importantly, as data warehouses of individual-level genomic data, hence allowing for a comprehensive ethnicity-specific documentation of genomic variation. PMID:20650823

  19. ETHNOS : A versatile electronic tool for the development and curation of national genetic databases.

    PubMed

    van Baal, Sjozef; Zlotogora, Joël; Lagoumintzis, George; Gkantouna, Vassiliki; Tzimas, Ioannis; Poulas, Konstantinos; Tsakalidis, Athanassios; Romeo, Giovanni; Patrinos, George P

    2010-06-01

    National and ethnic mutation databases (NEMDBs) are emerging online repositories, recording extensive information about the described genetic heterogeneity of an ethnic group or population. These resources facilitate the provision of genetic services and provide a comprehensive list of genomic variations among different populations. As such, they enhance awareness of the various genetic disorders. Here, we describe the features of the ETHNOS software, a simple but versatile tool based on a flat-file database that is specifically designed for the development and curation of NEMDBs. ETHNOS is a freely available software which runs more than half of the NEMDBs currently available. Given the emerging need for NEMDB in genetic testing services and the fact that ETHNOS is the only off-the-shelf software available for NEMDB development and curation, its adoption in subsequent NEMDB development would contribute towards data content uniformity, unlike the diverse contents and quality of the available gene (locus)-specific databases. Finally, we allude to the potential applications of NEMDBs, not only as worldwide central allele frequency repositories, but also, and most importantly, as data warehouses of individual-level genomic data, hence allowing for a comprehensive ethnicity-specific documentation of genomic variation.

  20. 76 FR 69761 - National Earthquake Prediction Evaluation Council (NEPEC)

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-11-09

    ... DEPARTMENT OF THE INTERIOR U.S. Geological Survey National Earthquake Prediction Evaluation... 96-472, the National Earthquake Prediction Evaluation Council (NEPEC) will hold a 1\\1/2\\-day meeting.... Geological Survey on proposed earthquake predictions, on the completeness and scientific validity of the...

  1. Woman's Pre-Conception Evaluation: Genetic and Fetal Risk Considerations for Counselling and Informed Choice.

    PubMed

    Wilson, R Douglas

    2017-10-11

    To inform reproductive and other health care providers about genetic and fetal risk information to consider during a woman/couples' pre-conception evaluation, including considerations for genetic risk assessment, genetic screening, or testing to allow for improved counselling and informed choice. This genetic information can be used for patient education, planning, and possible pre-conception and/or prenatal testing. This information may allow improved risk assessment for pre-conception counselling for individual patients and their families. PubMed or Medline and the Cochrane Database were searched in May 2017 using appropriate key words ("pre-conception," "genetic disease," "maternal," "family history," "genetic," "health risk," "genetic health surveillance," "prenatal screening," "prenatal diagnosis," "birth defects," and "teratogen"). Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, and national and international medical specialty societies. The benefits for the patient and her family include an increased understanding of relevant genetic risk pre-conception and in early pregnancy, and better pregnancy outcomes as a result of use of the information. The harm includes potential increased anxiety or psychological stress associated with the possibility of identifying genetic risks. The evidence obtained was peer-reviewed by the Genetics Committee of The Society of Obstetricians and Gynaecologists of Canada. Consideration for Care Statements For this review article, the Consideration for Care Statements use the GRADE strength and quality as it is comparable for the clinician and the patient/public user. [GRADE from the Canadian Task Force on Preventive Health Care (www.canadiantaskforce.ca). For clinicians, Strong = The recommendation would apply to most individuals. Formal discussion aids are not likely to be

  2. Uptake of Predictive Genetic Testing and Cardiac Evaluation for Children at Risk for an Inherited Arrhythmia or Cardiomyopathy.

    PubMed

    Christian, Susan; Atallah, Joseph; Clegg, Robin; Giuffre, Michael; Huculak, Cathleen; Dzwiniel, Tara; Parboosingh, Jillian; Taylor, Sherryl; Somerville, Martin

    2018-02-01

    Predictive genetic testing in minors should be considered when clinical intervention is available. Children who carry a pathogenic variant for an inherited arrhythmia or cardiomyopathy require regular cardiac screening and may be prescribed medication and/or be told to modify their physical activity. Medical genetics and pediatric cardiology charts were reviewed to identify factors associated with uptake of genetic testing and cardiac evaluation for children at risk for long QT syndrome, hypertrophic cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy. The data collected included genetic diagnosis, clinical symptoms in the carrier parent, number of children under 18 years of age, age of children, family history of sudden cardiac arrest/death, uptake of cardiac evaluation and if evaluated, phenotype for each child. We identified 97 at risk children from 58 families found to carry a pathogenic variant for one of these conditions. Sixty six percent of the families pursued genetic testing and 73% underwent cardiac screening when it was recommended. Declining predictive genetic testing was significantly associated with genetic specialist recommendation (p < 0.001) and having an asymptomatic carrier father (p = 0.006). Cardiac evaluation was significantly associated with uptake of genetic testing (p = 0.007). This study provides a greater understanding of factors associated with uptake of genetic testing and cardiac evaluation in children at risk of an inherited arrhythmia or cardiomyopathy. It also identifies a need to educate families about the importance of cardiac evaluation even in the absence of genetic testing.

  3. Prenatal Testing for Adult-Onset Conditions: the Position of the National Society of Genetic Counselors.

    PubMed

    Hercher, Laura; Uhlmann, Wendy R; Hoffman, Erin P; Gustafson, Shanna; Chen, Kelly M

    2016-12-01

    Advances in genetic testing and the availability of such testing in pregnancy allows prospective parents to test their future child for adult-onset conditions. This ability raises several complex ethical issues. Prospective parents have reproductive rights to obtain information about their fetus. This information may or may not alter pregnancy management. These rights can be in conflict with the rights of the future individual, who will be denied the right to elect or decline testing. This paper highlights the complexity of these issues, details discussions that went into the National Society of Genetic Counselors (NSGC) Public Policy Task Force's development of the Prenatal testing for Adult-Onset Conditions position statement adopted in November 2014, and cites relevant literature on this topic through December 2015. Issues addressed include parental rights and autonomy, rights of the future child, the right not to know, possible adverse effects on childhood and the need for genetic counseling. This paper will serve as a reference to genetic counselors and healthcare professionals when faced with this situation in clinical practice.

  4. Media Exposure and Genetic Literacy Skills to Evaluate Angelina Jolie's Decision for Prophylactic Mastectomy.

    PubMed

    Abrams, Leah R; Koehly, Laura M; Hooker, Gillian W; Paquin, Ryan S; Capella, Joseph N; McBride, Colleen M

    2016-01-01

    To examine public preparedness to evaluate and respond to Angelina Jolie's well-publicized decision to have a prophylactic mastectomy. A consumer panel (n = 1,008) completed an online survey in November 2013, reporting exposure to Jolie's story, confidence applying genomic knowledge to evaluate her decision, and ability to interpret provided genetic risk information (genetic literacy skills). Linear and logistic regressions tested mediating/moderating models of these factors in association with opinions regarding mastectomies. Confidence with genomics was associated with increased genetic literacy skills and increased media exposure, with a significant interaction between the two. Confidence was also associated with favoring mastectomies for women with BRCA mutations, mediating the relationship with media exposure. Respondents were more likely to form opinions about mastectomies if they had high genetic literacy skills. These findings suggest that having higher genetic literacy skills may increase the public's ability to form opinions about clinical applications of genomic discovery. However, repeated media exposure to high-profile stories may artificially inflate confidence among those with low genetic literacy. © 2016 S. Karger AG, Basel.

  5. Development of a Nationally Coordinated Evaluation Plan for the Ghana National Strategy for Key Populations

    PubMed Central

    Reynolds, Heidi W; Atuahene, Kyeremeh; Sutherland, Elizabeth; Amenyah, Richard; Kwao, Isaiah Doe; Larbi, Emmanuel Tettey

    2015-01-01

    Objective Just as HIV prevention programs need to be tailored to the local epidemic, so should evaluations be country-owned and country-led to ensure use of those results in decision making and policy. The objective of this paper is to describe the process undertaken in Ghana to develop a national evaluation plan for the Ghana national strategy for key populations. Methods This was a participatory process that involved meetings between the Ghana AIDS Commission (GAC), other partners in Ghana working to prevent HIV among key populations, and MEASURE Evaluation. The process included three two-day, highly structured yet participatory meetings over the course of 12 months during which participants shared information about on-going and planned data and identified research questions and methods. Results An evaluation plan was prepared to inform stakeholders about which data collection activities need to be prioritized for funding, who would implement the study, the timing of data collection, the research question the data will help answer, and the analysis methods. The plan discusses various methods that can be used including the recommendation for the study design using multiple data sources. It has an evaluation conceptual model, proposed analyses, proposed definition of independent variables, estimated costs for filling data gaps, roles and responsibilities of stakeholders to carry out the plan, and considerations for ethics, data sharing and authorship. Conclusion The experience demonstrates that it is possible to design an evaluation responsive to national strategies and priorities with country leadership, regardless of stakeholders' experiences with evaluations. This process may be replicable elsewhere, where stakeholders want to plan and implement an evaluation of a large-scale program at the national or subnational level that is responsive to national priorities and part of a comprehensive monitoring and evaluation system. PMID:26120495

  6. Utilizing cattle genetic trends to evaluate the robust nature of gene bank collections

    USDA-ARS?s Scientific Manuscript database

    The National Animal Germplasm Program has developed substantial germplasm collections (>800,000 samples) for more than 300 unique livestock populations or breeds. Gene bank utilization is relatively new to the livestock sector and the long term genetic relevance of such collections has not been docu...

  7. Moderation of genetic factors by parental divorce in adolescents' evaluations of family functioning and subjective wellbeing.

    PubMed

    van der Aa, Niels; Boomsma, Dorret I; Rebollo-Mesa, Irene; Hudziak, James J; Bartels, Meike

    2010-04-01

    Adolescents' evaluations of family functioning may have a significant impact on their subjective well-being and adjustment. The aim of the study was to investigate the degree to which genetic and environmental influences affect variation in evaluations of general family functioning, family conflict, and quality of life and the overlap between them. We assessed whether genetic and environmental influences are moderated by parental divorce by analyzing self-report data from 6,773 adolescent twins and their non-twin siblings. Genetic, shared, and nonshared environmental influences accounted for variation in general family functioning and family conflict, with genetic influences being relatively more important in girls than boys in general family functioning. Genetic and nonshared environmental influences accounted for variation in quality of life, with genetic influences being relatively more important in girls. Evidence was found for interaction between genetic factors and parental divorce: genetic influence on general family functioning was larger in participants from divorced families. The overlap between general family functioning and quality of life, and family conflict and quality of life was accounted for the largest part by genetic effects, with nonshared environmental effects accounting for the remaining part. By examining the data from monozygotic twins, we found evidence for interaction between genotype and nonshared, non-measured, environmental influences on evaluations of general family functioning, family conflict, and quality of life.

  8. Evaluating Genetic Counseling for Family Members of Individuals With Schizophrenia in the Molecular Age

    PubMed Central

    Bassett, Anne S.

    2014-01-01

    Background: Myths and concerns about the extent and meaning of genetic risk in schizophrenia may contribute to significant stigma and burden for families. Genetic counseling has long been proposed to be a potentially informative and therapeutic intervention for schizophrenia. Surprisingly, however, available data are limited. We evaluated a contemporary genetic counseling protocol for use in a community mental health-care setting by non–genetics professionals. Methods: We used a pre-post study design with longitudinal follow-up to assess the impact of genetic counseling on family members of individuals with schizophrenia, where molecular testing had revealed no known clinically relevant genetic risk variant. We assessed the outcome using multiple measures, including standard items and scales used to evaluate genetic counseling for other complex diseases. Results: Of the 122 family members approached, 78 (63.9%) actively expressed an interest in the study. Participants (n = 52) on average overestimated the risk of familial recurrence at baseline, and demonstrated a significant improvement in this estimate postintervention (P < .0001). This change was associated with an enduring decrease in concern about recurrence (P = .0003). Significant and lasting benefits were observed in other key areas, including increased knowledge (P < .0001) and a decreased sense of stigma (P = .0047). Endorsement of the need for genetic counseling was high (96.1%). Conclusions: These results provide initial evidence of the efficacy of schizophrenia genetic counseling for families, even in the absence of individually relevant genetic test results or professional genetics services. The findings support the integration of contemporary genetic counseling for families into the general management of schizophrenia in the community. PMID:23104866

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

    PubMed

    White, Paul A; Johnson, George E

    2016-05-01

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

  10. Testing the Participatory Education Evaluation Concept in a National Context

    ERIC Educational Resources Information Center

    Pietilainen, Ville

    2012-01-01

    The article focuses on the realisation of participatory evaluation (PE) in national educational evaluation activity. The realisation of PE is examined by adapting the Daigneault and Jacob model (2009; originally Cousins & Whitmore, 1998) to five national-level educational evaluations carried out in Finland. According to the chosen frame of…

  11. Portfolio Evaluation for Professional Competence: Credentialing in Genetics for Nurses.

    ERIC Educational Resources Information Center

    Cook, Sarah Sheets; Kase, Ron; Middelton, Lindsay; Monsen, Rita Black

    2003-01-01

    Describes the process used by the Credentialing Committee of the International Society of Nurses in Genetics to validate evaluation criteria for nursing portfolios using neural network programs. Illustrates how standards are translated into measurable competencies and provides a scoring guide. (SK)

  12. Effects of Cancer Genetic Panel Testing on at-Risk Individuals.

    PubMed

    Frost, Anja S; Toaff, Miriam; Biagi, Tara; Stark, Elizabeth; McHenry, Allison; Kaltman, Rebecca

    2018-06-01

    To evaluate the role of screening patients at increased risk for hereditary cancer syndromes with an extended panel of cancer predisposition genes to identify actionable genetic mutations. A retrospective chart review was conducted of all patients presenting to a multidisciplinary cancer program for genetic counseling and testing from January 2015 to December 2016. Individuals presenting to the program were identified as at-risk by a personal or family history of cancer, by their health care provider, or by self-referral. All participants met current National Comprehensive Cancer Network criteria for genetic risk evaluation for hereditary cancer. The results of testing and its implications for management, based on National Comprehensive Cancer Network guidelines, were recorded. Of 670 at-risk patients who underwent genetic testing, 66 (9.9%) had BRCA-limited testing; of these, 26 of 670 (3.9%) had a deleterious or likely pathogenic mutation. Expanded panel testing was done for 560 of the 670 patients (83.4%), and abnormal results were found in 65 of 670 (9.7%); non-BRCA mutations (predominantly CHEK2) were found in 49 of the 65 (75%). Abnormal genetic testing was associated with increased surveillance in 96% of those with deleterious mutations, whereas negative testing for a known familial mutation in 45 patients was associated with a downgrade of their risk and reduction of subsequent surveillance and management. Guideline-based management is frequently altered by genetic testing, including panel testing, in patients at risk for cancer. We recommend that obstetrics and gynecology providers routinely refer at-risk patients for genetic counseling and testing when clinically appropriate.

  13. Postdeployment military mental health training: cross-national evaluations.

    PubMed

    Foran, Heather M; Garber, Bryan G; Zamorski, Mark A; Wray, Mariane; Mulligan, Kathleen; Greenberg, Neil; Castro, Carl Andrew; Adler, Amy B

    2013-05-01

    Deployments increase risk for adjustment problems in service members. To mitigate this increased risk, mental health training programs have been developed and implemented in several nations. As part of a coordinated effort, three nations adapted a U.S. mental health training program that had been validated by a series of group randomized trials demonstrating improvement in postdeployment adjustment. Implementation of evidence-based programs in a new context is challenging: How much of the original program needs to remain intact in order to retain its utility? User satisfaction rates can provide essential data to assess how well a program is accepted. This article summarizes service member ratings of postdeployment mental health training and compares ratings from service members across four nations. The participating nations (Canada, New Zealand, United Kingdom, and the United States) administered mental health training to active duty military personnel in their respective nations. Following the training, military personnel completed an evaluation of the training. Overall, across the four nations, more than 70% of military personnel agreed or strongly agreed that they were satisfied with the mental health training. Although some differences in evaluations were observed across nations, components of training that were most important to overall satisfaction with the training were strikingly similar across nations. Fundamentally, it appears feasible that despite cultural and organizational differences, a mental health training program developed in one nation can be successfully adapted for use in other nations. PsycINFO Database Record (c) 2013 APA, all rights reserved.

  14. Adams National Historical Park expanded transit service evaluation

    DOT National Transportation Integrated Search

    2009-12-01

    In 2005 and 2006, Adams National Historical Park piloted expanded shuttle service, with the aim of promoting car-free access for its visitors. This report evaluates the 2006 season of operation. Adams National Historical Park (NHP) is located approxi...

  15. Genetic Evaluation for the Scoliosis Gene(s) in Patients with Neurofibromatosis 1 and Scoliosis

    DTIC Science & Technology

    2015-10-01

    AWARD NUMBER: W81XWH-10-1-0469 TITLE: Genetic Evaluation for the Scoliosis Gene(s) in Patients with Neurofibromatosis 1 and Scoliosis...31Jul2015 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER "Genetic Evaluation for the Scoliosis Gene(s) in Patients with Neurofibromatosis 1 and Scoliosis." 5b...ABSTRACT Dystrophic or non-dystrophic forms of scoliosis are skeletal manifestations of Neurofibromatosis type 1 (NF1). Dystrophic scoliosis has a more

  16. Assessing the readiness of precision medicine interoperabilty: An exploratory study of the National Institutes of Health genetic testing registry.

    PubMed

    Ronquillo, Jay G; Weng, Chunhua; Lester, William T

    2017-11-17

      Precision medicine involves three major innovations currently taking place in healthcare:  electronic health records, genomics, and big data.  A major challenge for healthcare providers, however, is understanding the readiness for practical application of initiatives like precision medicine.   To better understand the current state and challenges of precision medicine interoperability using a national genetic testing registry as a starting point, placed in the context of established interoperability formats.   We performed an exploratory analysis of the National Institutes of Health Genetic Testing Registry.  Relevant standards included Health Level Seven International Version 3 Implementation Guide for Family History, the Human Genome Organization Gene Nomenclature Committee (HGNC) database, and Systematized Nomenclature of Medicine - Clinical Terms (SNOMED CT).  We analyzed the distribution of genetic testing laboratories, genetic test characteristics, and standardized genome/clinical code mappings, stratified by laboratory setting. There were a total of 25472 genetic tests from 240 laboratories testing for approximately 3632 distinct genes.  Most tests focused on diagnosis, mutation confirmation, and/or risk assessment of germline mutations that could be passed to offspring.  Genes were successfully mapped to all HGNC identifiers, but less than half of tests mapped to SNOMED CT codes, highlighting significant gaps when linking genetic tests to standardized clinical codes that explain the medical motivations behind test ordering.  Conclusion:  While precision medicine could potentially transform healthcare, successful practical and clinical application will first require the comprehensive and responsible adoption of interoperable standards, terminologies, and formats across all aspects of the precision medicine pipeline.

  17. Cross-validation analysis for genetic evaluation models for ranking in endurance horses.

    PubMed

    García-Ballesteros, S; Varona, L; Valera, M; Gutiérrez, J P; Cervantes, I

    2018-01-01

    Ranking trait was used as a selection criterion for competition horses to estimate racing performance. In the literature the most common approaches to estimate breeding values are the linear or threshold statistical models. However, recent studies have shown that a Thurstonian approach was able to fix the race effect (competitive level of the horses that participate in the same race), thus suggesting a better prediction accuracy of breeding values for ranking trait. The aim of this study was to compare the predictability of linear, threshold and Thurstonian approaches for genetic evaluation of ranking in endurance horses. For this purpose, eight genetic models were used for each approach with different combinations of random effects: rider, rider-horse interaction and environmental permanent effect. All genetic models included gender, age and race as systematic effects. The database that was used contained 4065 ranking records from 966 horses and that for the pedigree contained 8733 animals (47% Arabian horses), with an estimated heritability around 0.10 for the ranking trait. The prediction ability of the models for racing performance was evaluated using a cross-validation approach. The average correlation between real and predicted performances across genetic models was around 0.25 for threshold, 0.58 for linear and 0.60 for Thurstonian approaches. Although no significant differences were found between models within approaches, the best genetic model included: the rider and rider-horse random effects for threshold, only rider and environmental permanent effects for linear approach and all random effects for Thurstonian approach. The absolute correlations of predicted breeding values among models were higher between threshold and Thurstonian: 0.90, 0.91 and 0.88 for all animals, top 20% and top 5% best animals. For rank correlations these figures were 0.85, 0.84 and 0.86. The lower values were those between linear and threshold approaches (0.65, 0.62 and 0.51). In

  18. Genetics and Forensics: Making the National DNA Database

    PubMed Central

    Johnson, Paul; Williams, Robin; Martin, Paul

    2005-01-01

    This paper is based on a current study of the growing police use of the epistemic authority of molecular biology for the identification of criminal suspects in support of crime investigation. It discusses the development of DNA profiling and the establishment and development of the UK National DNA Database (NDNAD) as an instance of the ‘scientification of police work’ (Ericson and Shearing 1986) in which the police uses of science and technology have a recursive effect on their future development. The NDNAD, owned by the Association of Chief Police Officers of England and Wales, is the first of its kind in the world and currently contains the genetic profiles of more than 2 million people. The paper provides a framework for the examination of this socio-technical innovation, begins to tease out the dense and compact history of the database and accounts for the way in which changes and developments across disparate scientific, governmental and policing contexts, have all contributed to the range of uses to which it is put. PMID:16467921

  19. Logistics Distribution Center Location Evaluation Based on Genetic Algorithm and Fuzzy Neural Network

    NASA Astrophysics Data System (ADS)

    Shao, Yuxiang; Chen, Qing; Wei, Zhenhua

    Logistics distribution center location evaluation is a dynamic, fuzzy, open and complicated nonlinear system, which makes it difficult to evaluate the distribution center location by the traditional analysis method. The paper proposes a distribution center location evaluation system which uses the fuzzy neural network combined with the genetic algorithm. In this model, the neural network is adopted to construct the fuzzy system. By using the genetic algorithm, the parameters of the neural network are optimized and trained so as to improve the fuzzy system’s abilities of self-study and self-adaptation. At last, the sampled data are trained and tested by Matlab software. The simulation results indicate that the proposed identification model has very small errors.

  20. Using Economics and Genetics To Produce Leaner Pork.

    ERIC Educational Resources Information Center

    Welch, Mary A., Ed.

    1994-01-01

    The booklet describes the STAGES (Swine Testing and Genetic Evaluation System) program developed at Purdue University (Indiana), along with the USDA, National Pork Producers Council and swine breed associations. By selecting breeding stock from a coded catalogue developed by STAGES, producers are able to select the best breeding stock for more…

  1. [Creating a 'Germanic' public health: national-socialism, human genetics, and eugenics in the Netherlands].

    PubMed

    Snelders, Stephen

    2007-01-01

    The consequences of the uses of concepts of heredity in society and health care are not simply determined. This is demonstrated by a study of Dutch National Socialist doctors and biologists in the Second World War. During the German occupation of the Netherlands SS-biologist W.F.H. Stroër (1907-1979) and SS-doctor J.A. van der Hoeven (1912-1998) attempted to create a eugenic research and health care institute in the Netherlands. Heredity was accorded a key role in National Socialist plans for reorganization of Dutch health care. The ideas of the SS-eugenicists were closely related to those of leading geneticists and eugenicists in the Netherlands. Eugenic ideas were spread among all political ideologies. As late as November 1942 cooperation between the SS and non-Nazi geneticists was still discussed. The hardening of the political climate during the war created more explicit dividing lines between them. The SS-researchers did not believe in the existence of well-defined and separated races. They rejected a purely genetic determinism and advocated measures of social hygiene next to a positive and negative eugenics in the creation of a more healthy Germanic people and a purer race. Racial and genetic concepts were not exclusively translated into eugenic policies directed at human reproduction.

  2. Genetic diversity analysis of fruit characteristics of hawthorn germplasm.

    PubMed

    Su, K; Guo, Y S; Wang, G; Zhao, Y H; Dong, W X

    2015-12-07

    One hundred and six accessions of hawthorn intraspecific resources, from the National Germplasm Repository at Shenyang, were subjected to genetic diversity and principal component analysis based on evaluation data of 15 fruit traits. Results showed that the genetic diversity of hawthorn fruit traits varied. Among the 15 traits, the fruit shape variable coefficient had the most obvious evaluation, followed by fruit surface state, dot color, taste, weight of single fruit, sepal posture, peduncle form, and metula traits. These are the primary traits by which hawthorn could be classified in the future. The principal component demonstrated that these traits are the most influential factors of hawthorn fruit characteristics.

  3. Field cage studies and progressive evaluation of genetically-engineered mosquitoes.

    PubMed

    Facchinelli, Luca; Valerio, Laura; Ramsey, Janine M; Gould, Fred; Walsh, Rachael K; Bond, Guillermo; Robert, Michael A; Lloyd, Alun L; James, Anthony A; Alphey, Luke; Scott, Thomas W

    2013-01-01

    A genetically-engineered strain of the dengue mosquito vector Aedes aegypti, designated OX3604C, was evaluated in large outdoor cage trials for its potential to improve dengue prevention efforts by inducing population suppression. OX3604C is engineered with a repressible genetic construct that causes a female-specific flightless phenotype. Wild-type females that mate with homozygous OX3604C males will not produce reproductive female offspring. Weekly introductions of OX3604C males eliminated all three targeted Ae. aegypti populations after 10-20 weeks in a previous laboratory cage experiment. As part of the phased, progressive evaluation of this technology, we carried out an assessment in large outdoor field enclosures in dengue endemic southern Mexico. OX3604C males were introduced weekly into field cages containing stable target populations, initially at 10:1 ratios. Statistically significant target population decreases were detected in 4 of 5 treatment cages after 17 weeks, but none of the treatment populations were eliminated. Mating competitiveness experiments, carried out to explore the discrepancy between lab and field cage results revealed a maximum mating disadvantage of up 59.1% for OX3604C males, which accounted for a significant part of the 97% fitness cost predicted by a mathematical model to be necessary to produce the field cage results. Our results indicate that OX3604C may not be effective in large-scale releases. A strain with the same transgene that is not encumbered by a large mating disadvantage, however, could have improved prospects for dengue prevention. Insights from large outdoor cage experiments may provide an important part of the progressive, stepwise evaluation of genetically-engineered mosquitoes.

  4. [The role of the genetics history in genetics teaching].

    PubMed

    Li, Ming-Hui

    2006-08-01

    The research of the scientific history and development status reflect the science and technology level of a nation. The genetic history is one of the branches of the life science and the 21st century is life science century. The genetics history in the teaching of genetics not only can help students get familiar with the birth and development of genetics, but also enhance their thinking ability and scientific qualities. The roles and approaches of teaching are discussed in this paper.

  5. Evaluation of genetic diversity in Piper spp using RAPD and SRAP markers.

    PubMed

    Jiang, Y; Liu, J-P

    2011-11-29

    Random amplified polymorphic DNA (RAPD) and sequence-related amplified polymorphism (SRAP) analysis were applied to 74 individual plants of Piper spp in Hainan Island. The results showed that the SRAP technique may be more informative and more efficient and effective for studying genetic diversity of Piper spp than the RAPD technique. The overall level of genetic diversity among Piper spp in Hainan was relatively high, with the mean Shannon diversity index being 0.2822 and 0.2909, and the mean Nei's genetic diversity being 0.1880 and 0.1947, calculated with RAPD and SRAP data, respectively. The ranges of the genetic similarity coefficient were 0.486-0.991 and 0.520-1.000 for 74 individual plants of Piper spp (the mean genetic distance was 0.505 and 0.480) and the within-species genetic distance ranged from 0.063 to 0.291 and from 0.096 to 0.234, estimated with RAPD and SRAP data, respectively. These genetic indices indicated that these species are closely related genetically. The dendrogram generated with the RAPD markers was topologically different from the dendrogram based on SRAP markers, but the SRAP technique clearly distinguished all Piper spp from each other. Evaluation of genetic variation levels of six populations showed that the effective number of alleles, Nei's gene diversity and the Shannon information index within Jianfengling and Diaoluoshan populations are higher than those elsewhere; consequently conservation of wild resources of Piper in these two regions should have priority.

  6. Unified method to integrate and blend several, potentially related, sources of information for genetic evaluation.

    PubMed

    Vandenplas, Jérémie; Colinet, Frederic G; Gengler, Nicolas

    2014-09-30

    A condition to predict unbiased estimated breeding values by best linear unbiased prediction is to use simultaneously all available data. However, this condition is not often fully met. For example, in dairy cattle, internal (i.e. local) populations lead to evaluations based only on internal records while widely used foreign sires have been selected using internally unavailable external records. In such cases, internal genetic evaluations may be less accurate and biased. Because external records are unavailable, methods were developed to combine external information that summarizes these records, i.e. external estimated breeding values and associated reliabilities, with internal records to improve accuracy of internal genetic evaluations. Two issues of these methods concern double-counting of contributions due to relationships and due to records. These issues could be worse if external information came from several evaluations, at least partially based on the same records, and combined into a single internal evaluation. Based on a Bayesian approach, the aim of this research was to develop a unified method to integrate and blend simultaneously several sources of information into an internal genetic evaluation by avoiding double-counting of contributions due to relationships and due to records. This research resulted in equations that integrate and blend simultaneously several sources of information and avoid double-counting of contributions due to relationships and due to records. The performance of the developed equations was evaluated using simulated and real datasets. The results showed that the developed equations integrated and blended several sources of information well into a genetic evaluation. The developed equations also avoided double-counting of contributions due to relationships and due to records. Furthermore, because all available external sources of information were correctly propagated, relatives of external animals benefited from the integrated

  7. Evaluation of genetic diversity and population structure of West-Central Indian cattle breeds.

    PubMed

    Shah, Tejas M; Patel, Jaina S; Bhong, Chandrakant D; Doiphode, Aakash; Umrikar, Uday D; Parmar, Shivnandan S; Rank, Dharamshibhai N; Solanki, Jitendra V; Joshi, Chaitanya G

    2013-08-01

    Evaluations of genetic diversity in domestic livestock populations are necessary to implement region-specific conservation measures. We determined the genetic diversity and evolutionary relationships among eight geographically and phenotypically diverse cattle breeds indigenous to west-central India by genotyping these animals for 22 microsatellite loci. A total of 326 alleles were detected, and the expected heterozygosity ranged from 0.614 (Kenkatha) to 0.701 (Dangi). The mean number of alleles among the cattle breeds ranged from 7.182 (Khillar) to 9.409 (Gaolao). There were abundant genetic variations displayed within breeds, and the genetic differentiation was also high between the Indian cattle breeds, which displayed 15.9% of the total genetic differentiation among the different breeds. The genetic differentiation (pairwise FST ) among the eight Indian breeds varied from 0.0126 for the Kankrej-Malvi pair to 0.2667 for Khillar-Kenkatha pair. The phylogeny, principal components analysis, and structure analysis further supported close grouping of Kankrej, Malvi, Nimari and Gir; Gaolao and Kenkatha, whereas Dangi and Khillar remained at distance from other breeds. © 2012 The Authors, Animal Genetics © 2012 Stichting International Foundation for Animal Genetics.

  8. Evaluation and characterization of a genetically diverse Musa germplasm core subset.

    USDA-ARS?s Scientific Manuscript database

    The USDA-ARS, Tropical Agriculture Research Station is responsible for curating germplasm of several regionally and internationally important agricultural crops. Evaluation and characterization of Musa (bananas) genetic resources are an important component of programmed research. In a global coll...

  9. Singapore Cancer Network (SCAN) Guidelines for Referral for Genetic Evaluation of Common Hereditary Cancer Syndromes.

    PubMed

    2015-10-01

    The SCAN cancer genetics workgroup aimed to develop Singapore Cancer Network (SCAN) clinical practice guidelines for referral for genetic evaluation of common hereditary cancer syndromes. The workgroup utilised a modified ADAPTE process to calibrate high quality international evidence-based clinical practice guidelines to our local setting. To formulate referral guidelines for the 3 most commonly encountered hereditary cancer syndromes to guide healthcare providers in Singapore who care for cancer patients and/or their family members, 7, 5, and 3 sets of international guidelines respectively for hereditary breast and ovarian cancer (HBOC) syndrome, Lynch syndrome (LS), and familial adenomatous polyposis (FAP) were evaluated. For each syndrome, the most applicable one was selected, with modifications made such that they would be appropriate to the local context. These adapted guidelines form the SCAN Guidelines 2015 for referral for genetic evaluation of common hereditary cancer syndromes.

  10. A prototype national cattle evaluation for feed intake and efficiency of Angus cattle

    USDA-ARS?s Scientific Manuscript database

    Recent development of technologies for measuring individual feed intake has made possible the collection of data suitable for breed-wide genetic evaluation. Goals of this research were to estimate genetic parameters for components of feed efficiency and develop a prototype system for conducting a ge...

  11. Genetics by the Numbers

    MedlinePlus

    ... Inside Life Science > Genetics by the Numbers Inside Life Science View All Articles | Inside Life Science Home Page Genetics by the Numbers By Chelsea ... New Genetics NIH's National DNA Day This Inside Life Science article also appears on LiveScience . Learn about related ...

  12. An economic evaluation of second-trimester genetic ultrasonography for prenatal detection of down syndrome.

    PubMed

    Vintzileos, A M; Ananth, C V; Fisher, A J; Smulian, J C; Day-Salvatore, D; Beazoglou, T; Knuppel, R A

    1998-11-01

    The objective of this study was to perform an economic evaluation of second-trimester genetic ultrasonography for prenatal detection of Down syndrome. More specifically, we sought to determine the following: (1) the diagnostic accuracy requirements (from the cost-benefit point of view) of genetic ultrasonography versus genetic amniocentesis for women at increased risk for fetal Down syndrome and (2) the possible economic impact of second-trimester genetic ultrasonography for the US population on the basis of the ultrasonographic accuracies reported in previously published studies. A cost-benefit equation was developed from the hypothesis that the cost of universal genetic amniocentesis of patients at increased risk for carrying a fetus with Down syndrome should be at least equal to the cost of universal genetic ultrasonography with amniocentesis used only for those with abnormal ultrasonographic results. The main components of the equation included the diagnostic accuracy of genetic ultrasonography (sensitivity and specificity for detecting Down syndrome), the costs of the amniocentesis package and genetic ultrasonography, and the lifetime cost of Down syndrome cases not detected by the genetic ultrasonography. After appropriate manipulation of the equation a graph was constructed, representing the balance between sensitivity and false-positive rate of genetic ultrasonography; this was used to examine the accuracy of previously published studies from the cost-benefit point of view. Sensitivity analyses included individual risks for Down syndrome ranging from 1:261 (risk of a 35-year-old at 18 weeks' gestation) to 1:44 (risk of a 44-year-old at 18 weeks' gestation). This economic evaluation was conducted from the societal perspective. Genetic ultrasonography was found to be economically beneficial only if the overall sensitivity for detecting Down syndrome was >74%. Even then, the cost-benefit ratio depended on the corresponding false-positive rate. Of the 7

  13. Logistics for Working Together to Facilitate Genomic/Quantitative Genetic Prediction

    USDA-ARS?s Scientific Manuscript database

    The incorporation of DNA tests into the national cattle evaluation system will require estimation of variances of and covariances among the additive genetic components of the DNA tests and the phenotypic traits they are intended to predict. Populations with both DNA test results and phenotypes will ...

  14. Power source evaluation capabilities at Sandia National Laboratories

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Doughty, D.H.; Butler, P.C.

    1996-04-01

    Sandia National Laboratories maintains one of the most comprehensive power source characterization facilities in the U.S. National Laboratory system. This paper describes the capabilities for evaluation of fuel cell technologies. The facility has a rechargeable battery test laboratory and a test area for performing nondestructive and functional computer-controlled testing of cells and batteries.

  15. Field Cage Studies and Progressive Evaluation of Genetically-Engineered Mosquitoes

    PubMed Central

    Facchinelli, Luca; Valerio, Laura; Ramsey, Janine M.; Gould, Fred; Walsh, Rachael K.; Bond, Guillermo; Robert, Michael A.; Lloyd, Alun L.; James, Anthony A.; Alphey, Luke; Scott, Thomas W.

    2013-01-01

    Background A genetically-engineered strain of the dengue mosquito vector Aedes aegypti, designated OX3604C, was evaluated in large outdoor cage trials for its potential to improve dengue prevention efforts by inducing population suppression. OX3604C is engineered with a repressible genetic construct that causes a female-specific flightless phenotype. Wild-type females that mate with homozygous OX3604C males will not produce reproductive female offspring. Weekly introductions of OX3604C males eliminated all three targeted Ae. aegypti populations after 10–20 weeks in a previous laboratory cage experiment. As part of the phased, progressive evaluation of this technology, we carried out an assessment in large outdoor field enclosures in dengue endemic southern Mexico. Methodology/Principal Findings OX3604C males were introduced weekly into field cages containing stable target populations, initially at 10∶1 ratios. Statistically significant target population decreases were detected in 4 of 5 treatment cages after 17 weeks, but none of the treatment populations were eliminated. Mating competitiveness experiments, carried out to explore the discrepancy between lab and field cage results revealed a maximum mating disadvantage of up 59.1% for OX3604C males, which accounted for a significant part of the 97% fitness cost predicted by a mathematical model to be necessary to produce the field cage results. Conclusions/Significance Our results indicate that OX3604C may not be effective in large-scale releases. A strain with the same transgene that is not encumbered by a large mating disadvantage, however, could have improved prospects for dengue prevention. Insights from large outdoor cage experiments may provide an important part of the progressive, stepwise evaluation of genetically-engineered mosquitoes. PMID:23350003

  16. Evaluation of resveratrol, green tea extract, curcumin, oxaloacetic acid, and medium-chain triglyceride oil on life span of genetically heterogeneous mice.

    PubMed

    Strong, Randy; Miller, Richard A; Astle, Clinton M; Baur, Joseph A; de Cabo, Rafael; Fernandez, Elizabeth; Guo, Wen; Javors, Martin; Kirkland, James L; Nelson, James F; Sinclair, David A; Teter, Bruce; Williams, David; Zaveri, Nurulain; Nadon, Nancy L; Harrison, David E

    2013-01-01

    The National Institute on Aging Interventions Testing Program (ITP) was established to evaluate agents that are hypothesized to increase life span and/or health span in genetically heterogeneous mice. Each compound is tested in parallel at three test sites. It is the goal of the ITP to publish all results, negative or positive. We report here on the results of lifelong treatment of mice, beginning at 4 months of age, with each of five agents, that is, green tea extract (GTE), curcumin, oxaloacetic acid, medium-chain triglyceride oil, and resveratrol, on the life span of genetically heterogeneous mice. Each agent was administered beginning at 4 months of age. None of these five agents had a statistically significant effect on life span of male or female mice, by log-rank test, at the concentrations tested, although a secondary analysis suggested that GTE might diminish the risk of midlife deaths in females only.

  17. Evaluating U.S. National Heritage Areas: theory, methods, and application.

    PubMed

    Laven, Daniel; Ventriss, Curtis; Manning, Robert; Mitchell, Nora

    2010-08-01

    Like many governmental actors in recent decades, the U.S. National Park Service (NPS) has operated increasingly through partnerships with other state and federal agencies, non-governmental organizations (NGOs), community groups, and private sector corporations. Perhaps the most salient example of this trend toward partnerships is the rapid growth and development of national heritage areas (NHAs). Since the first NHA received congressional designation in 1984, NHAs have become an increasingly popular strategy for protecting and managing landscapes. To date, congressional designation has been granted to 49 NHAs, making them one of the fastest growing initiatives involving the NPS. Despite this growth, no prior research has examined the efficacy or effectiveness of the NHA model. This article introduces the NHA concept, while reviewing the literature on evaluation research and its application to protected area management. We then offer an NHA program theory model for evaluating NHAs. The model was developed using a theory-based, process evaluation approach, along with 90 qualitative interviews conducted at three study sites: Blackstone River Valley National Heritage Corridor, MA-RI (BLAC); Delaware and Lehigh National Heritage Corridor, PA (DELE); and Cane River National Heritage Area, LA (CANE). We conclude by discussing the key challenges and implications associated with developing a long-term research agenda for evaluating NHAs.

  18. Evaluating U.S. National Heritage Areas: Theory, Methods, and Application

    NASA Astrophysics Data System (ADS)

    Laven, Daniel; Ventriss, Curtis; Manning, Robert; Mitchell, Nora

    2010-08-01

    Like many governmental actors in recent decades, the U.S. National Park Service (NPS) has operated increasingly through partnerships with other state and federal agencies, non-governmental organizations (NGOs), community groups, and private sector corporations. Perhaps the most salient example of this trend toward partnerships is the rapid growth and development of national heritage areas (NHAs). Since the first NHA received congressional designation in 1984, NHAs have become an increasingly popular strategy for protecting and managing landscapes. To date, congressional designation has been granted to 49 NHAs, making them one of the fastest growing initiatives involving the NPS. Despite this growth, no prior research has examined the efficacy or effectiveness of the NHA model. This article introduces the NHA concept, while reviewing the literature on evaluation research and its application to protected area management. We then offer an NHA program theory model for evaluating NHAs. The model was developed using a theory-based, process evaluation approach, along with 90 qualitative interviews conducted at three study sites: Blackstone River Valley National Heritage Corridor, MA-RI (BLAC); Delaware and Lehigh National Heritage Corridor, PA (DELE); and Cane River National Heritage Area, LA (CANE). We conclude by discussing the key challenges and implications associated with developing a long-term research agenda for evaluating NHAs.

  19. Genetic potential of common bean progenies obtained by different breeding methods evaluated in various environments.

    PubMed

    Pontes Júnior, V A; Melo, P G S; Pereira, H S; Melo, L C

    2016-09-02

    Grain yield is strongly influenced by the environment, has polygenic and complex inheritance, and is a key trait in the selection and recommendation of cultivars. Breeding programs should efficiently explore the genetic variability resulting from crosses by selecting the most appropriate method for breeding in segregating populations. The goal of this study was to evaluate and compare the genetic potential of common bean progenies of carioca grain for grain yield, obtained by different breeding methods and evaluated in different environments. Progenies originating from crosses between lines and CNFC 7812 and CNFC 7829 were replanted up to the F 7 generation using three breeding methods in segregating populations: population (bulk), bulk within F 2 progenies, and single-seed descent (SSD). Fifteen F 8 progenies per method, two controls (BRS Estilo and Perola), and the parents were evaluated in a 7 x 7 simple lattice design, with plots of two 4-m rows. The tests were conducted in 10 environments in four States of Brazil and in three growing seasons in 2009 and 2010. Genetic parameters including genetic variance, heritability, variance of interaction, and expected selection gain were estimated. Genetic variability among progenies and the effect of progeny-environment interactions were determined for the three methods. The breeding methods differed significantly due to the effects of sampling procedures on the progenies and due to natural selection, which mainly affected the bulk method. The SSD and bulk methods provided populations with better estimates of genetic parameters and more stable progenies that were less affected by interaction with the environment.

  20. Acadia National Park ITS field operational test : evaluation plan

    DOT National Transportation Integrated Search

    2000-08-01

    This document presents the plan for evaluating technologies known as Intelligent Transportation Systems (ITS) that will be implemented in Acadia National Park and Mount Desert Island, Maine. Acadia National Park was selected as a site for an ITS Fiel...

  1. 75 FR 56116 - National Institute on Aging; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-09-15

    ... personal privacy. Name of Committee: National Institute on Aging Special Emphasis Panel, Alzheimer's Disease Genetics. Date: October 4, 2010. Time: 8 p.m. to 9 p.m. Agenda: To review and evaluate grant...

  2. National Ridesharing Demonstration Program : Comparative Evaluation Report

    DOT National Transportation Integrated Search

    1985-08-01

    The report evaluates 17 projects of the National Ridesharing Demonstration Program, with detailed analysis of five sites where a workplace survey was conducted--Atlanta, Cincinnati, Houston, Portland, and Seattle. Among the topics covered are project...

  3. Genetic Evaluation of Children with Global Developmental Delay--Current Status of Network Systems in Taiwan.

    PubMed

    Foo, Yong-Lin; Chow, Julie Chi; Lai, Ming-Chi; Tsai, Wen-Hui; Tung, Li-Chen; Kuo, Mei-Chin; Lin, Shio-Jean

    2015-08-01

    This review article aims to introduce the screening and referral network of genetic evaluation for children with developmental delay in Taiwan. For these children, integrated systems provide services from the medical, educational, and social welfare sectors. All cities and counties in Taiwan have established a network for screening, detection, referral, evaluation, and intervention services. Increased awareness improves early detection and intervention. There remains a gap between supply and demand, especially with regard to financial resources and professional manpower. Genetic etiology has a major role in prenatal causes of developmental delay. A summary of reports on some related genetic disorders in the Taiwanese population is included in this review. Genetic diagnosis allows counseling with regard to recurrence risk and prevention. Networking with neonatal screening, laboratory diagnosis, genetic counseling, and orphan drugs logistics systems can provide effective treatment for patients. In Taiwan, several laboratories provide genetic tests for clinical diagnosis. Accessibility to advanced expensive tests such as gene chips or whole exome sequencing is limited because of funding problems; however, the service system in Taiwan can still operate in a relatively cost-effective manner. This experience in Taiwan may serve as a reference for other countries. Copyright © 2014. Published by Elsevier B.V.

  4. National STEM Consortium Evaluation. Final Report

    ERIC Educational Resources Information Center

    Stewart, Sarah

    2015-01-01

    Acting as the lead agency for the "National STEM Consortium" (NSC), Anne Arundel Community College (AACC) engaged Hezel Associates to provide an independent program and impact evaluation of the U.S. Department of Labor (USDOL)-funded STEM certificate initiative. This report is comprehensive and covers the findings from all 4 years of the…

  5. Multiparity evaluation of calving ease and stillbirth with separate genetic effects by parity.

    PubMed

    Wiggans, G R; Cole, J B; Thornton, L L M

    2008-08-01

    Evaluations that analyze first and later parities as correlated traits were developed separately for calving ease (CE) from over 15 million calving records of Holsteins, Brown Swiss, and Holstein-Brown Swiss crossbreds and for stillbirth (SB) from 7.4 million of the Holstein CE records. Calving ease was measured on a scale of 1 (no difficulty) to 5 (difficult birth); SB status was designated as live or dead within 48 h. Scores for CE and SB were transformed separately for each trait by parity (first or later) and calf sex (male or female) and converted to a unit standard deviation scale. For variance component estimation, Holstein data were selected for the 2,968 bulls with the most records as sire or maternal grandsire (MGS). Six samples were selected by herd; samples ranged in size from 97,756 to 146,138 records. A multiparity sire-MGS model was used to calculate evaluations separately for CE and for SB with first and later parities as correlated traits. Fixed effects were year-season, calf sex, and sire and MGS birth years; random effects were herd-year interaction, sire, and MGS. For later parities, sex effects were separated by parity. The genetic correlation between first and later parities was 0.79 for sire and 0.81 for MGS for CE, and 0.83 for sire and 0.74 for MGS for SB. For national CE evaluations, which also include Brown Swiss, a fixed effect for breed was added to the model. Correlations between solutions on the underlying scale from the January 2008 USDA CE evaluation with those from the multiparity analysis for CE were 0.89 and 0.91 for first- and later-parity sire effects and 0.71 and 0.88 for first- and later-parity MGS effects; the larger value for later parity reflects that later parities comprised 64% of the data. Corresponding correlations for SB were 0.81 and 0.82 for first- and later-parity sire effects and 0.46 and 0.83 for first- and later-parity MGS effects, respectively. Correlations were higher when only bulls with a multiparity

  6. Evaluating Secondary Students' Scientific Reasoning in Genetics Using a Two-Tier Diagnostic Instrument

    NASA Astrophysics Data System (ADS)

    Tsui, Chi-Yan; Treagust, David

    2010-05-01

    While genetics has remained as one key topic in school science, it continues to be conceptually and linguistically difficult for students with the concomitant debates as to what should be taught in the age of biotechnology. This article documents the development and implementation of a two-tier multiple-choice instrument for diagnosing grades 10 and 12 students' understanding of genetics in terms of reasoning. The pretest and posttest forms of the diagnostic instrument were used alongside other methods in evaluating students' understanding of genetics in a case-based qualitative study on teaching and learning with multiple representations in three Western Australian secondary schools. Previous studies have shown that a two-tier diagnostic instrument is useful in probing students' understanding or misunderstanding of scientific concepts and ideas. The diagnostic instrument in this study was designed and then progressively refined, improved, and implemented to evaluate student understanding of genetics in three case schools. The final version of the instrument had Cronbach's alpha reliability of 0.75 and 0.64, respectively, for its pretest and the posttest forms when it was administered to a group of grade 12 students (n = 17). This two-tier diagnostic instrument complemented other qualitative data collection methods in this research in generating a more holistic picture of student conceptual learning of genetics in terms of scientific reasoning. Implications of the findings of this study using the diagnostic instrument are discussed.

  7. 75 FR 63854 - National Earthquake Prediction Evaluation Council (NEPEC) Advisory Committee

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-18

    ... DEPARTMENT OF THE INTERIOR Geological Survey National Earthquake Prediction Evaluation Council...: Pursuant to Public Law 96-472, the National Earthquake Prediction Evaluation Council (NEPEC) will hold a 2... proposed earthquake predictions, on the completeness and scientific validity of the available data related...

  8. Atlanta congestion reduction demonstration : national evaluation report.

    DOT National Transportation Integrated Search

    2014-03-01

    This document presents the final report on the national evaluation of the Atlanta Congestion Reduction Demonstration (CRD) under the United States Department of Transportation (U.S. DOT) CRD Program. The Atlanta CRD projects focus on reducing congest...

  9. Evaluation of Genetic Algorithm Concepts using Model Problems. Part 1; Single-Objective Optimization

    NASA Technical Reports Server (NTRS)

    Holst, Terry L.; Pulliam, Thomas H.

    2003-01-01

    A genetic-algorithm-based optimization approach is described and evaluated using a simple hill-climbing model problem. The model problem utilized herein allows for the broad specification of a large number of search spaces including spaces with an arbitrary number of genes or decision variables and an arbitrary number hills or modes. In the present study, only single objective problems are considered. Results indicate that the genetic algorithm optimization approach is flexible in application and extremely reliable, providing optimal results for all problems attempted. The most difficult problems - those with large hyper-volumes and multi-mode search spaces containing a large number of genes - require a large number of function evaluations for GA convergence, but they always converge.

  10. Quantitative maps of genetic interactions in yeast - comparative evaluation and integrative analysis.

    PubMed

    Lindén, Rolf O; Eronen, Ville-Pekka; Aittokallio, Tero

    2011-03-24

    High-throughput genetic screening approaches have enabled systematic means to study how interactions among gene mutations contribute to quantitative fitness phenotypes, with the aim of providing insights into the functional wiring diagrams of genetic interaction networks on a global scale. However, it is poorly known how well these quantitative interaction measurements agree across the screening approaches, which hinders their integrated use toward improving the coverage and quality of the genetic interaction maps in yeast and other organisms. Using large-scale data matrices from epistatic miniarray profiling (E-MAP), genetic interaction mapping (GIM), and synthetic genetic array (SGA) approaches, we carried out here a systematic comparative evaluation among these quantitative maps of genetic interactions in yeast. The relatively low association between the original interaction measurements or their customized scores could be improved using a matrix-based modelling framework, which enables the use of single- and double-mutant fitness estimates and measurements, respectively, when scoring genetic interactions. Toward an integrative analysis, we show how the detections from the different screening approaches can be combined to suggest novel positive and negative interactions which are complementary to those obtained using any single screening approach alone. The matrix approximation procedure has been made available to support the design and analysis of the future screening studies. We have shown here that even if the correlation between the currently available quantitative genetic interaction maps in yeast is relatively low, their comparability can be improved by means of our computational matrix approximation procedure, which will enable integrative analysis and detection of a wider spectrum of genetic interactions using data from the complementary screening approaches.

  11. An exploratory study with preliminary results: The development and evaluation of a Genetics Concept Inventory

    NASA Astrophysics Data System (ADS)

    Hott, Adam M.

    Modern science education reform includes the development of standards and recommendations for content as well as the development and evaluation of pedagogy, but demonstrates limited assessment of student knowledge. Student knowledge assessment is an important factor in measuring the scientific literacy of current students. Concept inventories have been developed and used for the past fourteen years to assess non-science major student conceptual understanding of a content area. Inventories have been developed in the fields of physics, astronomy, chemistry and biology. The development and evaluation of a Genetics Concept Inventory (GCI) is presented here. The reliability estimate of 0.62 is supported by a respected panel of genetics educators' revisions, no significant gender bias, and the ability of junior and senior biology majors to outperform the non-science majors. Pretest/Posttest comparisons show a significant increase in five of six genetics content areas as well as a 9% increase on the overall percent score for the instrument. Although the Genetics Concept Inventory presented here needs further modification and testing, it is the first step in the development of a quality assessment tool for genetics content.

  12. País de gordos/país de muertos: Obesity, death and nation in biomedical and forensic genetics in Mexico.

    PubMed

    García-Deister, Vivette; López-Beltrán, Carlos

    2015-12-01

    This article provides a comparison between genomic medicine and forensic genetics in Mexico, in light of recent depictions of the nation as a 'país de gordos' (country of the fat) and a 'país de muertos' (country of the dead). We examine the continuities and ruptures in the public image of genetics in these two areas of attention, health and security, focusing especially on how the relevant publics of genetic science are assembled in each case. Publics of biomedical and forensic genetics are assembled through processes of recruitment and interpellation, in ways that modulate current theorizations of co-production. The comparison also provides a vista onto discussions regarding the involvement of genetics in regimes of governance and citizenship and about the relationship between the state and biopower in a context of perceived health crisis and war-like violence.

  13. Evaluation of the National Assessment of Educational Progress: Next Steps

    ERIC Educational Resources Information Center

    Noell, Jay; Ginsburg, Alan

    2009-01-01

    The report, "Evaluation of the National Assessment of Educational Progress", provides a number of recommendations for addressing validity concerns about NAEP. This article identifies actions that could be taken by the Congress, the National Center for Education Statistics, and the National Assessment Governing Board--which share responsibility for…

  14. Compensatory Education: An Analysis of National Versus State and Local Evaluations.

    ERIC Educational Resources Information Center

    Stickney, Benjamin D.

    Discrepancies between the pessimistic national evaluations and the more encouraging state and local evaluations of compensatory education programs are explored in this paper. A conventional explanation for the discrepancies, namely, that the averaging of test scores from a large national sample "cancels out" the results of successful…

  15. Evaluation of Resveratrol, Green Tea Extract, Curcumin, Oxaloacetic Acid, and Medium-Chain Triglyceride Oil on Life Span of Genetically Heterogeneous Mice

    PubMed Central

    Miller, Richard A.; Astle, Clinton M.; Baur, Joseph A.; de Cabo, Rafael; Fernandez, Elizabeth; Guo, Wen; Javors, Martin; Kirkland, James L.; Nelson, James F.; Sinclair, David A.; Teter, Bruce; Williams, David; Zaveri, Nurulain; Nadon, Nancy L.; Harrison, David E.

    2013-01-01

    The National Institute on Aging Interventions Testing Program (ITP) was established to evaluate agents that are hypothesized to increase life span and/or health span in genetically heterogeneous mice. Each compound is tested in parallel at three test sites. It is the goal of the ITP to publish all results, negative or positive. We report here on the results of lifelong treatment of mice, beginning at 4 months of age, with each of five agents, that is, green tea extract (GTE), curcumin, oxaloacetic acid, medium-chain triglyceride oil, and resveratrol, on the life span of genetically heterogeneous mice. Each agent was administered beginning at 4 months of age. None of these five agents had a statistically significant effect on life span of male or female mice, by log-rank test, at the concentrations tested, although a secondary analysis suggested that GTE might diminish the risk of midlife deaths in females only. PMID:22451473

  16. Genetic Structure of First Nation Communities in the Pacific Northwest.

    PubMed

    Hughes, Cris E; Rogers, Mary P; Owings, Amanda C; Petzelt, Barbara; Mitchell, Joycelynn; Harry, Harold; Williams, Theresa; Goldberg, Dena; Labuda, Damian; Smith, David Glenn; Cybulski, Jerome S; Malhi, Ripan S

    2016-10-01

    This study presents genetic data for nine Native American populations from northern North America. Analyses of genetic variation focus on the Pacific Northwest (PNW). Using mitochondrial, Y chromosomal, and autosomal DNA variants, we aimed to more closely address the relationships of geography and language with present genetic diversity among the regional PNW Native American populations. Patterns of genetic diversity exhibited by the three genetic systems were consistent with our hypotheses: genetic variation was more strongly explained by geographic proximity than by linguistic structure. Our findings were corroborated through a variety on analytic approaches, with the unrooted trees for the three genetic systems consistently separating inland from coastal PNW populations. Furthermore, analyses of molecular variance support the trends exhibited by the unrooted trees, with geographic partitioning of PNW populations (F CT = 19.43%, p = 0.010 ± 0.009) accounting for over twice as much of the observed genetic variation as linguistic partitioning of the same populations (F CT = 9.15%, p = 0.193 ± 0.013). These findings demonstrate a consensus with previous PNW population studies examining the relationships of genome-wide variation, mitochondrial haplogroup frequencies, and skeletal morphology with geography and language.

  17. Genetic evaluation of rapid height growth in pot- and nursery-grown Scotch pine

    Treesearch

    Maurice E., Jr. Demeritt; Henry D. Gerhold; Henry D. Gerhold

    1985-01-01

    Genetic and environmental components of variance for 2-year pot and nursery heights of offspring from inter- and intraprovenance matings in Scotch pine were studied to determine which provenances and selection methods should be used in an ornamental and Christmas tree improvement program. Nursery evaluation was preferred to pot evaluation because heritability estimates...

  18. Evaluation of Genetic Algorithm Concepts Using Model Problems. Part 2; Multi-Objective Optimization

    NASA Technical Reports Server (NTRS)

    Holst, Terry L.; Pulliam, Thomas H.

    2003-01-01

    A genetic algorithm approach suitable for solving multi-objective optimization problems is described and evaluated using a series of simple model problems. Several new features including a binning selection algorithm and a gene-space transformation procedure are included. The genetic algorithm is suitable for finding pareto optimal solutions in search spaces that are defined by any number of genes and that contain any number of local extrema. Results indicate that the genetic algorithm optimization approach is flexible in application and extremely reliable, providing optimal results for all optimization problems attempted. The binning algorithm generally provides pareto front quality enhancements and moderate convergence efficiency improvements for most of the model problems. The gene-space transformation procedure provides a large convergence efficiency enhancement for problems with non-convoluted pareto fronts and a degradation in efficiency for problems with convoluted pareto fronts. The most difficult problems --multi-mode search spaces with a large number of genes and convoluted pareto fronts-- require a large number of function evaluations for GA convergence, but always converge.

  19. Evaluation of National Geographic School Publishing Nonfiction Literacy Materials. Summary Report.

    ERIC Educational Resources Information Center

    Metcalf, Kim K.; Smith, Carl B.; Legan, Natalie A.

    During the 2001-02 academic year, a purposive, national evaluation was undertaken of "Windows on Literacy" and "Reading Expeditions," two new school-based programs produced by the School Publishing Division of the National Geographic Society (NGS). The evaluation sought to determine the efficacy of the new materials for…

  20. Sensitivity to Peer Evaluation and Its Genetic and Environmental Determinants: Findings from a Population-Based Twin Study.

    PubMed

    Klippel, Annelie; Reininghaus, Ulrich; Viechtbauer, Wolfgang; Decoster, Jeroen; Delespaul, Philippe; Derom, Cathérine; de Hert, Marc; Jacobs, Nele; Menne-Lothmann, Claudia; Rutten, Bart; Thiery, Evert; van Os, Jim; van Winkel, Ruud; Myin-Germeys, Inez; Wichers, Marieke

    2018-02-23

    Adolescents and young adults are highly focused on peer evaluation, but little is known about sources of their differential sensitivity. We examined to what extent sensitivity to peer evaluation is influenced by interacting environmental and genetic factors. A sample of 354 healthy adolescent twin pairs (n = 708) took part in a structured, laboratory task in which they were exposed to peer evaluation. The proportion of the variance in sensitivity to peer evaluation due to genetic and environmental factors was estimated, as was the association with specific a priori environmental risk factors. Differences in sensitivity to peer evaluation between adolescents were explained mainly by non-shared environmental influences. The results on shared environmental influences were not conclusive. No impact of latent genetic factors or gene-environment interactions was found. Adolescents with lower self-rated positions on the social ladder or who reported to have been bullied more severely showed significantly stronger responses to peer evaluation. Not genes, but subjective social status and past experience of being bullied seem to impact sensitivity to peer evaluation. This suggests that altered response to peer evaluation is the outcome of cumulative sensitization to social interactions.

  1. The emergence of human population genetics and narratives about the formation of the Brazilian nation (1950-1960).

    PubMed

    de Souza, Vanderlei Sebastião; Santos, Ricardo Ventura

    2014-09-01

    This paper discusses the emergence of human population genetics in Brazil in the decades following World War II, and pays particular attention to narratives about the formation of the Brazilian nation. We analyze the institutionalization of this branch of genetics in the 1950s and 1960s, and look at research on the characteristics of the population of Brazil, which made use of new explanatory models of evolutionary dynamics. These developments were greatly influenced by the activities of the Rockefeller Foundation and by the presence of North American geneticists in Brazil, especially Theodosius Dobzhansky. One of the main points of this paper is to show that explanations of Brazilian human genetic diversity constructed in the mid-twentieth century closely followed interpretations that had been produced since the end of the nineteenth century, in which notions of 'racial mixing' played a central role. Even as population genetics was conditioned by nationalist concerns that had long marked Brazilian history, we argue that its emergence and institutionalization was closely associated with global, post-World War II socio-political contexts, especially with regards to modernization projects and growing scientific internationalization. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

  2. Genetic variability of garlic accessions as revealed by agro-morphological traits evaluated under different environments.

    PubMed

    Hoogerheide, E S S; Azevedo Filho, J A; Vencovsky, R; Zucchi, M I; Zago, B W; Pinheiro, J B

    2017-05-31

    The cultivated garlic (Allium sativum L.) displays a wide phenotypic diversity, which is derived from natural mutations and phenotypic plasticity, due to dependence on soil type, moisture, latitude, altitude and cultural practices, leading to a large number of cultivars. This study aimed to evaluate the genetic variability shown by 63 garlic accessions belonging to Instituto Agronômico de Campinas and the Escola Superior de Agricultura "Luiz de Queiroz" germplasm collections. We evaluated ten quantitative characters in experimental trials conducted under two localities of the State of São Paulo: Monte Alegre do Sul and Piracicaba, during the agricultural year of 2007, in a randomized blocks design with five replications. The Mahalanobis distance was used to measure genetic dissimilarities. The UPGMA method and Tocher's method were used as clustering procedures. Results indicated significant variation among accessions (P < 0.01) for all evaluated characters, except for the percentage of secondary bulb growth in MAS, indicating the existence of genetic variation for bulb production, and germplasm evaluation considering different environments is more reliable for the characterization of the genotypic variability among garlic accessions, since it diminishes the environmental effects in the clustering of genotypes.

  3. Genetic Influences on Learning Disabilties I: Clinical Genetics.

    ERIC Educational Resources Information Center

    Smith, Shelley D.; Pennington, Bruce F.

    1983-01-01

    A discussion of basic genetic principles is followed by a review of selected genetic syndromes involving learning disabilites (such as Noonan Syndrome, Neurofibromatosis, Pheuylketonuria, and cleft lip and palate). Guidelines for securing a genetic evaluation are given. (CL)

  4. Factors affecting maternal participation in the genetic component of the National Birth Defects Prevention Study-United States, 1997-2007.

    PubMed

    Glidewell, Jill; Reefhuis, Jennita; Rasmussen, Sonja A; Woomert, Alison; Hobbs, Charlotte; Romitti, Paul A; Crider, Krista S

    2014-04-01

    As epidemiological studies expand to examine gene-environment interaction effects, it is important to identify factors associated with participation in genetic studies. The National Birth Defects Prevention Study is a multisite case-control study designed to investigate environmental and genetic risk factors for major birth defects. The National Birth Defects Prevention Study includes maternal telephone interviews and mailed buccal cell self-collection kits. Because subjects can participate in the interview, independent of buccal cell collection, detailed analysis of factors associated with participation in buccal cell collection was possible. Multivariable logistic regression models were used to identify the factors associated with participation in the genetic component of the study. Buccal cell participation rates varied by race/ethnicity (non-Hispanic whites, 66.9%; Hispanics, 60.4%; and non-Hispanic blacks, 47.3%) and study site (50.2-74.2%). Additional monetary incentive following return of buccal cell kit and shorter interval between infant's estimated date of delivery and interview were associated with increased participation across all racial/ethnic groups. Higher education and delivering an infant with a birth defect were associated with increased participation among non-Hispanic whites and Hispanics. Factors associated with participation varied by race/ethnicity. Improved understanding of factors associated with participation may facilitate strategies to increase participation, thereby improving generalizability of study findings.

  5. What Makes Nations Intelligent?

    PubMed

    Hunt, Earl

    2012-05-01

    Modern society is driven by the use of cognitive artifacts: physical instruments or styles of reasoning that amplify our ability to think. The artifacts range from writing systems to computers. In everyday life, a person demonstrates intelligence by showing skill in using these artifacts. Intelligence tests and their surrogates force examinees to exhibit some of these skills but not others. This is why test scores correlate substantially but not perfectly with a variety of measures of socioeconomic success. The same thing is true at the international level. Nations can be evaluated by the extent to which their citizens score well on cognitive tests, including both avowed intelligence tests and a variety of tests of academic achievement. The resulting scores are substantially correlated with various indices of national wealth, health, environmental quality, and schooling and with a vaguer variable, social commitment to innovation. These environmental variables are suggested as causes of the differences in general cognitive skills between national populations. It is conceivable that differences in gene pools also contribute to international and, within nations, group differences in cognitive skills, but at present it is impossible to evaluate the extent of genetic influences. © The Author(s) 2012.

  6. Evaluation of genetic divergence among clones of conilon coffee after scheduled cycle pruning.

    PubMed

    Dalcomo, J M; Vieira, H D; Ferreira, A; Lima, W L; Ferrão, R G; Fonseca, A F A; Ferrão, M A G; Partelli, F L

    2015-11-30

    Coffea canephora genotypes from the breeding program of Instituto Capixaba de Pesquisa e Extensão Rural were evaluated, and genetic diversity was estimated with the aim of future improvement strategies. From an initial group of 55 genotypes, 18 from the region of Castelo, ES, were selected, and three clones of the cultivars "Vitória" and "robusta tropical." Upon completion of the scheduled cycle pruning, 17 morphoagronomic traits were measured in the 22 genotypes selected. The principal components method was used to evaluate the contributions relative to the traits. The genetic dissimilarity matrix was obtained through Mahalanobis generalized distance, and genotypes were grouped using the hierarchical method based on the mean of the distances. The most promising clones of Avaliação Castelo were AC02, AC03, AC12, AC13, AC22, AC24, AC26, AC27, AC28, AC29, AC30, AC35, AC36, AC37, AC39, AC40, AC43, and AC46. These methods detected high genetic variability, grouping, by similarity, the genotypes in five groups. The trait that contributed the least to genetic divergence was the number of leaves in plagiotropic branches; however, this was not eliminated, because discarding it altered the groups. There are superior genotypes with potential for use in the next stages of the breeding program, aimed at both the composition of clonal variety and hybridizations.

  7. País de gordos/país de muertos: Obesity, death and nation in biomedical and forensic genetics in Mexico

    PubMed Central

    García-Deister, Vivette; López-Beltrán, Carlos

    2015-01-01

    This article provides a comparison between genomic medicine and forensic genetics in Mexico, in light of recent depictions of the nation as a ‘país de gordos’ (country of the fat) and a ‘país de muertos’ (country of the dead). We examine the continuities and ruptures in the public image of genetics in these two areas of attention, health and security, focusing especially on how the relevant publics of genetic science are assembled in each case. Publics of biomedical and forensic genetics are assembled through processes of recruitment and interpellation, in ways that modulate current theorizations of co-production. The comparison also provides a vista onto discussions regarding the involvement of genetics in regimes of governance and citizenship and about the relationship between the state and biopower in a context of perceived health crisis and war-like violence. PMID:27479997

  8. Cancer genetics education in a low- to middle-income country: evaluation of an interactive workshop for clinicians in Kenya.

    PubMed

    Hill, Jessica A; Lee, Su Yeon; Njambi, Lucy; Corson, Timothy W; Dimaras, Helen

    2015-01-01

    Clinical genetic testing is becoming an integral part of medical care for inherited disorders. While genetic testing and counseling are readily available in high-income countries, in low- and middle-income countries like Kenya genetic testing is limited and genetic counseling is virtually non-existent. Genetic testing is likely to become widespread in Kenya within the next decade, yet there has not been a concomitant increase in genetic counseling resources. To address this gap, we designed an interactive workshop for clinicians in Kenya focused on the genetics of the childhood eye cancer retinoblastoma. The objectives were to increase retinoblastoma genetics knowledge, build genetic counseling skills and increase confidence in those skills. The workshop was conducted at the 2013 Kenyan National Retinoblastoma Strategy meeting. It included a retinoblastoma genetics presentation, small group discussion of case studies and genetic counseling role-play. Knowledge was assessed by standardized test, and genetic counseling skills and confidence by questionnaire. Knowledge increased significantly post-workshop, driven by increased knowledge of retinoblastoma causative genetics. One-year post-workshop, participant knowledge had returned to baseline, indicating that knowledge retention requires more frequent reinforcement. Participants reported feeling more confident discussing genetics with patients, and had integrated more genetic counseling into patient interactions. A comprehensive retinoblastoma genetics workshop can increase the knowledge and skills necessary for effective retinoblastoma genetic counseling.

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

    PubMed Central

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

    2008-01-01

    Human genetics research is increasingly concerned with multifactorial conditions such as diabetes and heart disease, which are influenced not only by genetic but also lifestyle factors such as diet and smoking. Although the results of ‘lifestyle-genetic’ tests using this information could conceivably motivate lifestyle changes in the future, companies are already selling such tests and related lifestyle advice commercially. Some academics and lobby groups have condemned the companies for selling these tests in advance of scientific support. Others are concerned that the tests may not motivate lifestyle improvements, instead causing distress in people receiving adverse test results and complacency in those receiving reassuring results. There is currently no regulatory oversight of genetic test utility, despite consensus in the Public Health Genomics community that clinical utility (including psychological and behavioural impact) of all emerging genetic tests should be evaluated before being introduced for individual use. Clearly, empirical data in this area is much needed, to inform understanding of the potential utility of these tests, and of whether stricter regulation of commercial exploitation is needed. In this article, we review the current situation regarding lifestyle-genetic tests, and discuss the challenges inherent in conducting this kind of behavioural research in the genomics era. PMID:19776630

  10. Lack of recognition of genetic biodiversity: International policy and its implementation in Baltic Sea marine protected areas.

    PubMed

    Laikre, Linda; Lundmark, Carina; Jansson, Eeva; Wennerström, Lovisa; Edman, Mari; Sandström, Annica

    2016-10-01

    Genetic diversity is needed for species' adaptation to changing selective pressures and is particularly important in regions with rapid environmental change such as the Baltic Sea. Conservation measures should consider maintaining large gene pools to maximize species' adaptive potential for long-term survival. In this study, we explored concerns regarding genetic variation in international and national policies that governs biodiversity and evaluated if and how such policy is put into practice in management plans governing Baltic Sea Marine Protected Areas (MPAs) in Sweden, Finland, Estonia, and Germany. We performed qualitative and quantitative textual analysis of 240 documents and found that agreed international and national policies on genetic biodiversity are not reflected in management plans for Baltic Sea MPAs. Management plans in all countries are largely void of goals and strategies for genetic biodiversity, which can partly be explained by a general lack of conservation genetics in policies directed toward aquatic environments.

  11. 76 FR 19123 - National Earthquake Prediction Evaluation Council (NEPEC)

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-04-06

    ... Earthquake Prediction Evaluation Council (NEPEC) AGENCY: U.S. Geological Survey, Interior. ACTION: Notice of meeting. SUMMARY: Pursuant to Public Law 96-472, the National Earthquake Prediction Evaluation Council... proposed earthquake predictions, on the completeness and scientific validity of the available data related...

  12. Genetic Parameter Estimates of Carcass Traits under National Scale Breeding Scheme for Beef Cattle

    PubMed Central

    Do, ChangHee; Park, ByungHo; Kim, SiDong; Choi, TaeJung; Yang, BohSuk; Park, SuBong; Song, HyungJun

    2016-01-01

    productivity and carcass quality could be obtained under the national scale breeding scheme of Korea for Hanwoo and that continuous efforts to improve the breeding scheme should be made to increase genetic progress. PMID:27004809

  13. Genetic Parameter Estimates of Carcass Traits under National Scale Breeding Scheme for Beef Cattle.

    PubMed

    Do, ChangHee; Park, ByungHo; Kim, SiDong; Choi, TaeJung; Yang, BohSuk; Park, SuBong; Song, HyungJun

    2016-08-01

    carcass quality could be obtained under the national scale breeding scheme of Korea for Hanwoo and that continuous efforts to improve the breeding scheme should be made to increase genetic progress.

  14. National Home Start Evaluation. Interim Report V: Case Studies.

    ERIC Educational Resources Information Center

    Jerome, Chris H.; And Others

    One of a series of documents on the evaluation of the National Home Start (NHS) program this third year interim report of case studies describes program efforts and successes with 16 Home Start families throughout the nation. A federally funded demonstration program, NHS is aimed at providing home-based services (such as health, education,…

  15. Evaluation of genetic diversity among soybean (Glycine max) genotypes using univariate and multivariate analysis.

    PubMed

    Oliveira, M M; Sousa, L B; Reis, M C; Silva Junior, E G; Cardoso, D B O; Hamawaki, O T; Nogueira, A P O

    2017-05-31

    The genetic diversity study has paramount importance in breeding programs; hence, it allows selection and choice of the parental genetic divergence, which have the agronomic traits desired by the breeder. This study aimed to characterize the genetic divergence between 24 soybean genotypes through their agronomic traits, using multivariate clustering methods to select the potential genitors for the promising hybrid combinations. Six agronomic traits evaluated were number of days to flowering and maturity, plant height at flowering and maturity, insertion height of the first pod, and yield. The genetic divergence evaluated by multivariate analysis that esteemed first the Mahalanobis' generalized distance (D 2 ), then the clustering using Tocher's optimization methods, and then the unweighted pair group method with arithmetic average (UPGMA). Tocher's optimization method and the UPGMA agreed with the groups' constitution between each other, the formation of eight distinct groups according Tocher's method and seven distinct groups using UPGMA. The trait number of days for flowering (45.66%) was the most efficient to explain dissimilarity between genotypes, and must be one of the main traits considered by the breeder in the moment of genitors choice in soybean-breeding programs. The genetic variability allowed the identification of dissimilar genotypes and with superior performances. The hybridizations UFU 18 x UFUS CARAJÁS, UFU 15 x UFU 13, and UFU 13 x UFUS CARAJÁS are promising to obtain superior segregating populations, which enable the development of more productive genotypes.

  16. Acadia National Park ITS field operational test : evaluation strategic plan

    DOT National Transportation Integrated Search

    2000-07-01

    This document provides a strategy for evaluating technologies known as Intelligent Transportation Systems (ITS) that will be implemented in Acadia National Park and Mount Desert Island, Maine. Acadia National Park was selected as a site for an ITS Fi...

  17. Effect of inclusion or non-inclusion of short lactations and cow and/or dam genetic group on genetic evaluation of Girolando dairy cattle.

    PubMed

    Canaza-Cayo, A W; Silva, M V G B; Cobuci, J A; Martins, M F; Lopes, P S

    2016-04-04

    The objective of this study was to evaluate the effects of inclusion or non-inclusion of short lactations and cow (CGG) and/or dam (DGG) genetic group on the genetic evaluation of 305-day milk yield (MY305), age at first calving (AFC), and first calving interval (FCI) of Girolando cows. Covariance components were estimated by the restricted maximum likelihood method in an animal model of single trait analyses. The heritability estimates for MY305, AFC, and FCI ranged from 0.23 to 0.29, 0.40 to 0.44, and 0.13 to 0.14, respectively, when short lactations were not included, and from 0.23 to 0.28, 0.39 to 0.43, and 0.13 to 0.14, respectively, when short lactations were included. The inclusion of short lactations caused little variation in the variance components and heritability estimates of traits, but their non-inclusion resulted in the re-ranking of animals. Models with CGG or DGG fixed effects had higher heritability estimates for all traits compared with models that consider these two effects simultaneously. We recommend using the model with fixed effects of CGG and inclusion of short lactations for the genetic evaluation of Girolando cattle.

  18. Genetic parameters for carcass and ultrasound traits in Hereford and admixed Simmental beef cattle: Accuracy of evaluating carcass traits.

    PubMed

    Su, H; Golden, B; Hyde, L; Sanders, S; Garrick, D

    2017-11-01

    between MRB and UIMF were 0.54 ± 0.08 and 0.73 ± 0.07. Predictions of carcass merit using RTU measurements in Hereford cattle would be more reliable for FAT and LMA than MRB, but the reverse would be true for admixed Simmental cattle. Genetic correlations for MRB in AHA and for FAT and LMA in ASA are less than currently assumed in their national evaluations. Collection of greater numbers of carcass measurements would improve the accuracy of genetic evaluations for carcass traits in both breeds.

  19. The Collaborative Cross at Oak Ridge National Laboratory: developing a powerful resource for systems genetics

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Chesler, Elissa J; Branstetter, Lisa R; Churchill, Gary A

    2008-01-01

    Complex traits and disease co-morbidity in humans and in model organisms are the result of naturally occurring polymorphisms that interact with each other and with the environment. To ensure the availability of the resources needed to investigate biomolecular networks and ultimately systems level phenotypes, we have initiated breeding of a new genetic reference population of mice, the Collaborative Cross. This population has been designed to optimally support systems genetics analysis. Its novel and important features include high levels of genetic diversity, a large population size to ensure sufficient power in high-dimensional studies, and high mapping precision through accumulation of independentmore » recombination events. Implementation of the Collaborative Cross has been in progress at the Oak Ridge National Laboratory (ORNL) since May 2005. This is achieved through a software assisted breeding program with fully traceable lineages, performed in a uniform environment. Currently, there are 650 lines in production with almost 200 lines over seven generations of inbreeding. Retired breeders enter a high-throughput phenotyping protocol and DNA samples are banked for analysis of recombination history, allele loss, and population structure. Herein we present a progress report of the Collaborative Cross breeding program at ORNL and a description of the kinds of investigations that this resource will support.« less

  20. Evaluation of Side Stream Filtration Technology at Oak Ridge National Laboratory

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Boyd, Brian K.

    2014-08-01

    This technology evaluation was performed by Pacific Northwest National Laboratory and Oak Ridge National Laboratory on behalf of the Federal Energy Management Program. The objective was to quantify the benefits side stream filtration provides to a cooling tower system. The evaluation assessed the performance of an existing side stream filtration system at a cooling tower system at Oak Ridge National Laboratory’s Spallation Neutron Source research facility. This location was selected because it offered the opportunity for a side-by-side comparison of a system featuring side stream filtration and an unfiltered system.

  1. Effect of pregnancy on the genetic evaluation of dairy cattle.

    PubMed

    Pereira, R J; Santana, M L; Bignardi, A B; Verneque, R S; El Faro, L; Albuquerque, L G

    2011-09-26

    We investigated the effect of stage of pregnancy on estimates of breeding values for milk yield and milk persistency in Gyr and Holstein dairy cattle in Brazil. Test-day milk yield records were analyzed using random regression models with or without the effect of pregnancy. Models were compared using residual variances, heritabilities, rank correlations of estimated breeding values of bulls and cows, and number of nonpregnant cows in the top 200 for milk yield and milk persistency. The estimates of residual variance and heritabilities obtained with the models with or without the effect of pregnancy were similar for the two breeds. Inclusion of the effect of pregnancy in genetic evaluation models for these populations did not affect the ranking of cows and sires based on their predicted breeding values for 305-day cumulative milk yield. In contrast, when we examined persistency of milk yield, lack of adjustment for the effect of pregnancy overestimated breeding values of nonpregnant cows and cows with a long days open period and underestimated breeding values of cows with a short days open period. We recommend that models include the effect of days of pregnancy for estimation of adjustment factors for the effect of pregnancy in genetic evaluations of Dairy Gyr and Holstein cattle.

  2. Genetic diversity of sweet sorghum germplasm in Mexico using AFLP and SSR markers

    USDA-ARS?s Scientific Manuscript database

    The objective of this work was to evaluate the diversity and genetic relationships between lines and varieties of the sweet sorghum (Sorghum bicolor) germplasm bank of the National Institute for Forestry, Agriculture and Livestock Research, Mexico, using AFLP and SSR markers. The molecular markers ...

  3. Evaluating the National Guard Domestic Operations Force Structure

    DTIC Science & Technology

    2016-06-01

    AU/ACSC/2016 AIR COMMAND AND STAFF COLLEGE DISTANCE LEARNING AIR UNIVERSITY EVALUATING THE NATIONAL GUARD DOMESTIC OPERATIONS FORCE...data will be blended together to identify trends and gaps in manpower, training, mission roles and force alignment. Since the NG HRFs and CERFPs are...decrease in the amount of No-Gos observed during these evaluations. This is perhaps a positive indicator that units are applying lessons learned

  4. Standardized Evaluation for Multi-National Development Programs.

    ERIC Educational Resources Information Center

    Farrell, W. Timothy

    This paper takes the position that standardized evaluation formats and procedures for multi-national development programs are not only desirable but possible in diverse settings. The key is the localization of standard systems, which involves not only the technical manipulation of items and scales, but also the contextual interpretation of…

  5. A genetic evaluation of morphology used to identify harvested Canada geese

    USGS Publications Warehouse

    Pearce, J.M.; Pierson, Barbara J.; Talbot, S.L.; Derksen, D.V.; Kraege, Donald K.; Scribner, K.T.

    2000-01-01

    Using maximum likelihood estimators (in genetic stock identification), we used genetic markers to evaluate the utility of 2 morphological measures (culmen length and plumage color) to correctly identify groups of hunter-harvested dusky (Branta canadensis occidentalis) and dusky-like Canada geese on the wintering grounds within the Pacific Flyway. Significant levels of genetic differentiation were observed across all sampled breeding sites for both nuclear microsatellite loci and mtDNA when analyzed at the sequence level. The ability to discriminate among geese from these sites using genetic markers was further demonstrated using computer simulations. We estimated contributions from the Copper River Delta, the primary breeding area of dusky Canada geese, to groups of hunter-harvested geese classified as dusky Canada geese on the basis of morphology as 50.6 ?? 10.1(SE)% for females and 50.3 ?? 13.0% for males. We also estimated that 16 ?? 8.1% of females classified as dusky Canada geese on the basis of morphology originated from Middleton Island, Alaska; a locale currently managed as a subpopulation of dusky Canada geese, even though the majority of geese from this area possess a unique mtdna haplotype not found on the Copper River Delta. The use of culmen length and plumage color to identify the origin of breeding populations in the harvest provides conservative criteria for management of dusky Canada geese as individuals of other breeding populations are misassigned as dusky Canada geese and birds of the lighter-plumaged dusky-like group did not appear to originate from, breeding sites of the dusky Canada goose. Our analyses demonstrate that genetic markers can accurately estimate the proportion of genetically differentiated areas that comprise an admixed group, but they also raise questions about the management scale of Pacific Flyway Canada geese (e.g., at the subspecies or breeding population level) and the use of morphological and genetic characteristics to

  6. The Israeli National Genetic database: a 10-year experience.

    PubMed

    Zlotogora, Joël; Patrinos, George P

    2017-03-16

    The Israeli National and Ethnic Mutation database ( http://server.goldenhelix.org/israeli ) was launched in September 2006 on the ETHNOS software to include clinically relevant genomic variants reported among Jewish and Arab Israeli patients. In 2016, the database was reviewed and corrected according to ClinVar ( https://www.ncbi.nlm.nih.gov/clinvar ) and ExAC ( http://exac.broadinstitute.org ) database entries. The present article summarizes some key aspects from the development and continuous update of the database over a 10-year period, which could serve as a paradigm of successful database curation for other similar resources. In September 2016, there were 2444 entries in the database, 890 among Jews, 1376 among Israeli Arabs, and 178 entries among Palestinian Arabs, corresponding to an ~4× data content increase compared to when originally launched. While the Israeli Arab population is much smaller than the Jewish population, the number of pathogenic variants causing recessive disorders reported in the database is higher among Arabs (934) than among Jews (648). Nevertheless, the number of pathogenic variants classified as founder mutations in the database is smaller among Arabs (175) than among Jews (192). In 2016, the entire database content was compared to that of other databases such as ClinVar and ExAC. We show that a significant difference in the percentage of pathogenic variants from the Israeli genetic database that were present in ExAC was observed between the Jewish population (31.8%) and the Israeli Arab population (20.6%). The Israeli genetic database was launched in 2006 on the ETHNOS software and is available online ever since. It allows querying the database according to the disorder and the ethnicity; however, many other features are not available, in particular the possibility to search according to the name of the gene. In addition, due to the technical limitations of the previous ETHNOS software, new features and data are not included in the

  7. National Evaluation of Diversion Projects. Executive Summary.

    ERIC Educational Resources Information Center

    Dunford, Franklyn W.; And Others

    In 1976 the Special Emphasis branch of the Office of Juvenile Justice and Delinquency Prevention made $10 million available for the development of 11 diversion programs. A national evaluation of these programs was promoted in the hope of better understanding the viability of diversion as an alternative to traditional practices. The impact of…

  8. San Francisco urban partnership agreement : national evaluation report.

    DOT National Transportation Integrated Search

    2014-11-01

    This document presents the final report on the national evaluation of the San Francisco Urban Partnership Agreement (UPA) under the United States Department of Transportation (U.S. DOT) UPA Program. The UPA program targeted congestion reduction throu...

  9. Cotton genetic resources and crop vulnerability

    USDA-ARS?s Scientific Manuscript database

    A report on the genetic vulnerability of cotton was provided to the National Genetic Resources Advisory Council. The report discussed crop vulnerabilities associated with emerging diseases, emerging pests, and a narrowing genetic base. To address these crop vulnerabilities, the report discussed the ...

  10. The National Evaluation of Project Follow Through: 1967-1968.

    ERIC Educational Resources Information Center

    Kurfeerst, Marvin; Stephens, Thomas M.

    Twenty-nine projects evaluated during the 1967-68 school year in the national evaluation of Project Follow Through are discussed in this final report. The report provides, in a narrative format, only the "hard" data gathered during the pre-test period. Specifically, this report reviews relevant literature, describes the procedures and…

  11. Evaluation of the National Assessment of Educational Progress. Study Reports

    ERIC Educational Resources Information Center

    Buckendahl, Chad W.; Davis, Susan L.; Plake, Barbara S.; Sireci, Stephen G.; Hambleton, Ronald K.; Zenisky, April L.; Wells, Craig S.

    2009-01-01

    The "Evaluation of the National Assessment of Educational Progress: Study Reports" describes the special studies that comprised the design of the evaluation. In the Final Report, the authors presented a practical discussion of the evaluation studies to its primary, intended audience, namely policymakers. On this accompanying CD, readers…

  12. Genetic evaluation of weekly body weight in Japanese quail using random regression models.

    PubMed

    Karami, K; Zerehdaran, S; Tahmoorespur, M; Barzanooni, B; Lotfi, E

    2017-02-01

    1. A total of 11 826 records from 2489 quails, hatched between 2012 and 2013, were used to estimate genetic parameters for BW (body weight) of Japanese quail using random regression models. Weekly BW was measured from hatch until 49 d of age. WOMBAT software (University of New England, Australia) was used for estimating genetic and phenotypic parameters. 2. Nineteen models were evaluated to identify the best orders of Legendre polynomials. A model with Legendre polynomial of order 3 for additive genetic effect, order 3 for permanent environmental effects and order 1 for maternal permanent environmental effects was chosen as the best model. 3. According to the best model, phenotypic and genetic variances were higher at the end of the rearing period. Although direct heritability for BW reduced from 0.18 at hatch to 0.12 at 7 d of age, it gradually increased to 0.42 at 49 d of age. It indicates that BW at older ages is more controlled by genetic components in Japanese quail. 4. Phenotypic and genetic correlations between adjacent periods except hatching weight were more closely correlated than remote periods. The present results suggested that BW at earlier ages, especially at hatch, are different traits compared to BW at older ages. Therefore, BW at earlier ages could not be used as a selection criterion for improving BW at slaughter age.

  13. Phenotypic and genetic effects of recessive haplotypes on yield, longevity, and fertility

    USDA-ARS?s Scientific Manuscript database

    Phenotypes from the August 2015 US national genetic evaluation were used to compute phenotypic effects of cholesterol deficiency (CD) and 17 other recessive haplotypes in Ayrshire (AY; n=1), Brown Swiss (BS; n = 5), Holstein (HO; n = 10), and Jersey (JE; n = 2) cattle on milk, fat, and protein yield...

  14. A participatory approach to evaluating a national training and institutional change initiative: the BUILD longitudinal evaluation.

    PubMed

    Davidson, Pamela L; Maccalla, Nicole M G; Afifi, Abdelmonem A; Guerrero, Lourdes; Nakazono, Terry T; Zhong, Shujin; Wallace, Steven P

    2017-01-01

    The National Institutes of Health (NIH) funds training programs to increase the numbers and skills of scientists who obtain NIH research grants, but few programs have been rigorously evaluated. The sizeable recent NIH investment in developing programs to increase the diversity of the NIH-funded workforce, implemented through the Diversity Program Consortium (DPC), is unusual in that it also funds a Consortium-wide evaluation plan, which spans the activities of the 10 BUilding Infrastructure Leading to Diversity (BUILD) awardees and the National Research Mentoring Network (NRMN). The purpose of this article is to describe the evaluation design and innovations of the BUILD Program on students, faculty, and institutions of the 10 primarily undergraduate BUILD sites. Our approach to this multi-methods quasi-experimental longitudinal evaluation emphasizes stakeholder participation and collaboration. The evaluation plan specifies the major evaluation questions and key short- to long-term outcome measures (or Hallmarks of Success). The Coordination and Evaluation Center (CEC) embarked on a comprehensive evaluation strategy by developing a set of logic models that incorporate the Hallmarks of Success and other outcomes that were collaboratively identified by the DPC. Data were collected from each BUILD site through national surveys from the Higher Education Research Institute at UCLA (HERI), annual followup surveys that align with the HERI instruments, site visits and case studies, program encounter data ("tracker" data), and institutional data. The analytic approach involves comparing changes in Hallmarks (key outcomes) within institutions for biomedical students who participated versus those who did not participate in the BUILD program at each institution, as well as between institution patterns of biomedical students at the BUILD sites, and matched institutions that were not BUILD grantees. Case studies provide insights into the institutionalization of these new

  15. Genetic evaluation and selection response for growth in meat-type quail through random regression models using B-spline functions and Legendre polynomials.

    PubMed

    Mota, L F M; Martins, P G M A; Littiere, T O; Abreu, L R A; Silva, M A; Bonafé, C M

    2018-04-01

    The objective was to estimate (co)variance functions using random regression models (RRM) with Legendre polynomials, B-spline function and multi-trait models aimed at evaluating genetic parameters of growth traits in meat-type quail. A database containing the complete pedigree information of 7000 meat-type quail was utilized. The models included the fixed effects of contemporary group and generation. Direct additive genetic and permanent environmental effects, considered as random, were modeled using B-spline functions considering quadratic and cubic polynomials for each individual segment, and Legendre polynomials for age. Residual variances were grouped in four age classes. Direct additive genetic and permanent environmental effects were modeled using 2 to 4 segments and were modeled by Legendre polynomial with orders of fit ranging from 2 to 4. The model with quadratic B-spline adjustment, using four segments for direct additive genetic and permanent environmental effects, was the most appropriate and parsimonious to describe the covariance structure of the data. The RRM using Legendre polynomials presented an underestimation of the residual variance. Lesser heritability estimates were observed for multi-trait models in comparison with RRM for the evaluated ages. In general, the genetic correlations between measures of BW from hatching to 35 days of age decreased as the range between the evaluated ages increased. Genetic trend for BW was positive and significant along the selection generations. The genetic response to selection for BW in the evaluated ages presented greater values for RRM compared with multi-trait models. In summary, RRM using B-spline functions with four residual variance classes and segments were the best fit for genetic evaluation of growth traits in meat-type quail. In conclusion, RRM should be considered in genetic evaluation of breeding programs.

  16. Application Form for NCI Cancer Genetics Services Directory

    Cancer.gov

    Professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, and others) may fill out this application form to be listed in the National Cancer Institute's Cancer Genetics Services Directory.

  17. Inclusion Criteria for NCI Cancer Genetics Services Directory

    Cancer.gov

    Professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, and others) must meet these criteria before applying to be listed in the National Cancer Institute's Cancer Genetics Services Directory.

  18. Genetic secrets: Protecting privacy and confidentiality in the genetic era

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Rothstein, M.A.

    1998-07-01

    Few developments are likely to affect human beings more profoundly in the long run than the discoveries resulting from advances in modern genetics. Although the developments in genetic technology promise to provide many additional benefits, their application to genetic screening poses ethical, social, and legal questions, many of which are rooted in issues of privacy and confidentiality. The ethical, practical, and legal ramifications of these and related questions are explored in depth. The broad range of topics includes: the privacy and confidentiality of genetic information; the challenges to privacy and confidentiality that may be projected to result from the emergingmore » genetic technologies; the role of informed consent in protecting the confidentiality of genetic information in the clinical setting; the potential uses of genetic information by third parties; the implications of changes in the health care delivery system for privacy and confidentiality; relevant national and international developments in public policies, professional standards, and laws; recommendations; and the identification of research needs.« less

  19. Design and Operation of the Transformed National Healthy Start Evaluation.

    PubMed

    Banks, Jamelle E; Dwyer, Maura; Hirai, Ashley; Ghandour, Reem M; Atrash, Hani K

    2017-12-01

    Purpose Improving pregnancy outcomes for women and children is one of the nation's top priorities. The Healthy Start (HS) program was created to address factors that contribute to high infant mortality rates (IMRs) and persistent disparities in IMRs. The program began in 1991 and was transformed in 2014 to apply lessons from emerging research, past evaluation findings, and expert recommendations. To understand the implementation and impact of the transformed program, there is a need for a robust and comprehensive evaluation. Description The national HS evaluation will include an implementation evaluation, which will describe program components that affect outcomes; a utilization evaluation, which will examine the characteristics of women and infants who did and did not utilize the program; and an outcome evaluation, which will assess the program's effectiveness with regard to producing expected outcomes among the target population. Data sources include the National HS Program Survey, a HS participant survey, and individual-level program data linked to vital records and the Pregnancy Risk Assessment Monitoring System (PRAMS) survey. Assessment Descriptive analyses will be used to examine differences in risk profiles between participants and non-participants, as well as to calculate penetration rates for high-risk women in respective service areas. Multivariable analyses will be used to determine the impact of the program on key outcomes and will explore variation by dose, type of services received, and grantee characteristics. Conclusion Evaluation findings are expected to inform program decisions and direction, including identification of effective program components that can be spread and scaled.

  20. National Evaluation of Bologna Implementation in Finland: Procedures and Outcomes

    ERIC Educational Resources Information Center

    Ahola, Sakari

    2012-01-01

    Finland has performed, as one of the first Bologna countries, a national evaluation of the outcomes of the implementation of the Bologna process. The evaluation was organized by the Finnish Higher Education Evaluation Council and performed by an independent expert group during 2010. In general, the reform was conceived as a significant development…

  1. Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations.

    PubMed

    D'Andrea, Elvira; Marzuillo, Carolina; De Vito, Corrado; Di Marco, Marco; Pitini, Erica; Vacchio, Maria Rosaria; Villari, Paolo

    2016-12-01

    There is considerable evidence regarding the efficacy and effectiveness of BRCA genetic testing programs, but whether they represent good use of financial resources is not clear. Therefore, we aimed to identify the main health-care programs for BRCA testing and to evaluate their cost-effectiveness. We performed a systematic review of full economic evaluations of health-care programs involving BRCA testing. Nine economic evaluations were included, and four main categories of BRCA testing programs were identified: (i) population-based genetic screening of individuals without cancer, either comprehensive or targeted based on ancestry; (ii) family history (FH)-based genetic screening, i.e., testing individuals without cancer but with FH suggestive of BRCA mutation; (iii) familial mutation (FM)-based genetic screening, i.e., testing individuals without cancer but with known familial BRCA mutation; and (iv) cancer-based genetic screening, i.e., testing individuals with BRCA-related cancers. Currently BRCA1/2 population-based screening represents good value for the money among Ashkenazi Jews only. FH-based screening is potentially very cost-effective, although further studies that include costs of identifying high-risk women are needed. There is no evidence of cost-effectiveness for BRCA screening of all newly diagnosed cases of breast/ovarian cancers followed by cascade testing of relatives, but programs that include tools for identifying affected women at higher risk for inherited forms are promising. Cost-effectiveness is highly sensitive to the cost of BRCA1/2 testing.Genet Med 18 12, 1171-1180.

  2. Genetic correlations between endo-parasite phenotypes and economically important traits in dairy and beef cattle.

    PubMed

    Twomey, Alan J; Carroll, Rebecca I; Doherty, Michael L; Byrne, Noel; Graham, David A; Sayers, Riona G; Blom, Astrid; Berry, Donagh P

    2018-03-06

    Parasitic diseases have economic consequences in cattle production systems. Although breeding for parasite resistance can complement current control practices to reduce the prevalence globally, there is little knowledge of the implications of such a strategy on other performance traits. Records on individual animal antibody responses to Fasciola hepatica, Ostertagia ostertagi, and Neospora caninum were available from cows in 68 dairy herds (study herds); national abattoir data on F. hepatica-damaged livers were also available from dairy and beef cattle. After data edits, 9,271 dairy cows remained in the study herd dataset, whereas 19,542 dairy cows and 68,048 young dairy and beef animals had a record for the presence or absence of F. hepatica-damaged liver in the national dataset. Milk, reproductive, and carcass phenotypes were also available for a proportion of these animals as well as their contemporaries. Linear mixed models were used to estimate variance components of antibody responses to the three parasites; covariance components were estimated between the parasite phenotypes and economically important traits. Heritability of antibody responses to the different parasites, when treated as a continuous trait, ranged from 0.07 (O. ostertagi) to 0.13 (F. hepatica), whereas the coefficient of genetic variation ranged from 4% (O. ostertagi) to 20% (F. hepatica). The antibody response to N. caninum was genetically correlated with the antibody response to both F. hepatica (-0.29) and O. ostertagi (-0.67); a moderately positive genetic correlation existed between the antibody response to F. hepatica and O. ostertagi (0.66). Genetic correlations between the parasite phenotypes and the milk production traits were all close to zero (-0.14 to 0.10), as were the genetic correlations between F. hepatica-damaged livers and the carcass traits of carcass weight, conformation, and fat score evaluated in cows and young animals (0.00 to 0.16). The genetic correlation between F

  3. Conflict Bear Translocation: Investigating Population Genetics and Fate of Bear Translocation in Dachigam National Park, Jammu and Kashmir, India

    PubMed Central

    Mukesh; Sharma, Lalit Kumar; Charoo, Samina Amin; Sathyakumar, Sambandam

    2015-01-01

    The Asiatic black bear population in Dachigam landscape, Jammu and Kashmir is well recognized as one of the highest density bear populations in India. Increasing incidences of bear-human interactions and the resultant retaliatory killings by locals have become a serious threat to the survivorship of black bears in the Dachigam landscape. The Department of Wildlife Protection in Jammu and Kashmir has been translocating bears involved in conflicts, henceforth ‘conflict bears’ from different sites in Dachigam landscape to Dachigam National Park as a flagship activity to mitigate conflicts. We undertook this study to investigate the population genetics and the fate of bear translocation in Dachigam National Park. We identified 109 unique genotypes in an area of ca. 650 km2 and observed bear population under panmixia that showed sound genetic variability. Molecular tracking of translocated bears revealed that mostly bears (7 out of 11 bears) returned to their capture sites, possibly due to homing instincts or habituation to the high quality food available in agricultural croplands and orchards, while only four bears remained in Dachigam National Park after translocation. Results indicated that translocation success was most likely to be season dependent as bears translocated during spring and late autumn returned to their capture sites, perhaps due to the scarcity of food inside Dachigam National Park while bears translocated in summer remained in Dachigam National Park due to availability of surplus food resources. Thus, the current management practices of translocating conflict bears, without taking into account spatio-temporal variability of food resources in Dachigam landscape seemed to be ineffective in mitigating conflicts on a long-term basis. However, the study highlighted the importance of molecular tracking of bears to understand their movement patterns and socio-biology in tough terrains like Dachigam landscape. PMID:26267280

  4. Conflict bear translocation: investigating population genetics and fate of bear translocation in Dachigam National Park, Jammu and Kashmir, India.

    PubMed

    Mukesh; Sharma, Lalit Kumar; Charoo, Samina Amin; Sathyakumar, Sambandam

    2015-01-01

    The Asiatic black bear population in Dachigam landscape, Jammu and Kashmir is well recognized as one of the highest density bear populations in India. Increasing incidences of bear-human interactions and the resultant retaliatory killings by locals have become a serious threat to the survivorship of black bears in the Dachigam landscape. The Department of Wildlife Protection in Jammu and Kashmir has been translocating bears involved in conflicts, henceforth 'conflict bears' from different sites in Dachigam landscape to Dachigam National Park as a flagship activity to mitigate conflicts. We undertook this study to investigate the population genetics and the fate of bear translocation in Dachigam National Park. We identified 109 unique genotypes in an area of ca. 650 km2 and observed bear population under panmixia that showed sound genetic variability. Molecular tracking of translocated bears revealed that mostly bears (7 out of 11 bears) returned to their capture sites, possibly due to homing instincts or habituation to the high quality food available in agricultural croplands and orchards, while only four bears remained in Dachigam National Park after translocation. Results indicated that translocation success was most likely to be season dependent as bears translocated during spring and late autumn returned to their capture sites, perhaps due to the scarcity of food inside Dachigam National Park while bears translocated in summer remained in Dachigam National Park due to availability of surplus food resources. Thus, the current management practices of translocating conflict bears, without taking into account spatio-temporal variability of food resources in Dachigam landscape seemed to be ineffective in mitigating conflicts on a long-term basis. However, the study highlighted the importance of molecular tracking of bears to understand their movement patterns and socio-biology in tough terrains like Dachigam landscape.

  5. Deep-sea genetic resources: New frontiers for science and stewardship in areas beyond national jurisdiction

    NASA Astrophysics Data System (ADS)

    Harden-Davies, Harriet

    2017-03-01

    The deep-sea is a large source of marine genetic resources (MGR), which have many potential uses and are a growing area of research. Much of the deep-sea lies in areas beyond national jurisdiction (ABNJ), including 65% of the global ocean. MGR in ABNJ occupy a significant gap in the international legal framework. Access and benefit sharing of MGR is a key issue in the development of a new international legally-binding instrument under the United Nations Convention on the Law of the Sea (UNCLOS) for the conservation and sustainable use of marine biological diversity in ABNJ. This paper examines how this is relevant to deep-sea scientific research and identifies emerging challenges and opportunities. There is no internationally agreed definition of MGR, however, deep-sea genetic resources could incorporate any biological material including genes, proteins and natural products. Deep-sea scientific research is the key actor accessing MGR in ABNJ and sharing benefits such as data, samples and knowledge. UNCLOS provides the international legal framework for marine scientific research, international science cooperation, capacity building and marine technology transfer. Enhanced implementation could support access and benefit sharing of MGR in ABNJ. Deep-sea scientific researchers could play an important role in informing practical new governance solutions for access and benefit sharing of MGR that promote scientific research in ABNJ and support deep-sea stewardship. Advancing knowledge of deep-sea biodiversity in ABNJ, enhancing open-access to data and samples, standardisation and international marine science cooperation are significant potential opportunity areas.

  6. An Overview of the National Nutrition Education and Training Program Evaluation.

    ERIC Educational Resources Information Center

    St. Pierre, Robert G.; Rezmovic, Victor

    1982-01-01

    Presents the organizing framework used in evaluating the National Nutrition Education and Training Program (NET) and summarizes the descriptive, evaluative, and meta-evaluative findings. Concludes that positive effects on children's nutrition-related knowledge have resulted from different nutrition education programs. (DC)

  7. Genetic and economic evaluation of Japanese Black (Wagyu) cattle breeding schemes.

    PubMed

    Kahi, A K; Hirooka, H

    2005-09-01

    Deterministic simulation was used to evaluate 10 breeding schemes for genetic gain and profitability and in the context of maximizing returns from investment in Japanese Black cattle breeding. A breeding objective that integrated the cow-calf and feedlot segments was considered. Ten breeding schemes that differed in the records available for use as selection criteria were defined. The schemes ranged from one that used carcass traits currently available to Japanese Black cattle breeders (Scheme 1) to one that also included linear measurements and male and female reproduction traits (Scheme 10). The latter scheme represented the highest level of performance recording. In all breeding schemes, sires were chosen from the proportion selected during the first selection stage (performance testing), modeling a two-stage selection process. The effect on genetic gain and profitability of varying test capacity and number of progeny per sire and of ultrasound scanning of live animals was examined for all breeding schemes. Breeding schemes that selected young bulls during performance testing based on additional individual traits and information on carcass traits from their relatives generated additional genetic gain and profitability. Increasing test capacity resulted in an increase in genetic gain in all schemes. Profitability was optimal in Scheme 2 (a scheme similar to Scheme 1, but selection of young bulls also was based on information on carcass traits from their relatives) to 10 when 900 to 1,000 places were available for performance testing. Similarly, as the number of progeny used in the selection of sires increased, genetic gain first increased sharply and then gradually in all schemes. Profit was optimal across all breeding schemes when sires were selected based on information from 150 to 200 progeny. Additional genetic gain and profitability were generated in each breeding scheme with ultrasound scanning of live animals for carcass traits. Ultrasound scanning of live

  8. Genetic evaluation of the breeding population of a valuable reforestation conifer Platycladus orientalis (Cupressaceae)

    NASA Astrophysics Data System (ADS)

    Jin, Yuqing; Ma, Yongpeng; Wang, Shun; Hu, Xian-Ge; Huang, Li-Sha; Li, Yue; Wang, Xiao-Ru; Mao, Jian-Feng

    2016-10-01

    Platycladus orientalis, a widespread conifer with long lifespan and significant adaptability. It is much used in reforestation in north China and commonly planted in central Asia. With the increasing demand for plantation forest in central to north China, breeding programs are progressively established for this species. Efficient use of breeding resources requires good understanding of the genetic value of the founder breeding materials. This study investigated the distribution of genetic variation in 192 elite trees collected for the breeding program for the central range of the species. We developed first set of 27 polymorphic EST-derived SSR loci for the species from transcriptome/genome data. After examination of amplification quality, 10 loci were used to evaluate the genetic variation in the breeding population. We found moderate genetic diversity (average He = 0.348) and low population differentiation (Fst = 0.011). Extensive admixture and no significant geographic population structure characterized this set of collections. Our analyses of the diversity and population structure are important steps toward a long-term sustainable deployment of the species and provide valuable genetic information for conservation and breeding applications.

  9. Evaluation of Genetic Susceptibility to Childhood Allergy and ...

    EPA Pesticide Factsheets

    Background: Asthma and allergy represent complex phenotypes, which disproportionately burden ethnic minorities in the United States. Strong evidence for genomic factors predisposing subjects to asthma/allergy is available. However, methods to utilize this information to identify high risk groups are variable and replication of genetic associations in African Americans is warranted. Methods: We evaluated 41 single nucleotide polymorphisms (SNP) and a deletion corresponding to 11 genes demonstrating association with asthma in the literature, for association with asthma, atopy, testing positive for food allergens, eosinophilia, and total serum IgE among 141 African American children living in Detroit, Michigan. Independent SNP and haplotype associations were investigated for association with each trait, and subsequently assessed in concert using a genetic risk score (GRS). Results: Statistically significant associations with asthma were observed for SNPs in GSTM1, MS4A2, and GSTP1 genes, after correction for multiple testing. Chromosome 11 haplotype CTACGAGGCC (corresponding to MS4A2 rs574700, rs1441586, rs556917, rs502581, rs502419 and GSTP1 rs6591256, rs17593068, rs1695, rs1871042, rs947895) was associated with a nearly five-fold increase in the odds of asthma (Odds Ratio (OR) = 4.8, p = 0.007). The GRS was significantly associated with a higher odds of asthma (OR = 1.61, 95% Confidence Interval = 1.21, 2.13; p = 0.001). Conclusions: Variation in genes a

  10. Variation in healthcare services for specialist genetic testing and implications for planning genetic services: the example of inherited retinal dystrophy in the English NHS.

    PubMed

    Harrison, Mark; Birch, Stephen; Eden, Martin; Ramsden, Simon; Farragher, Tracey; Payne, Katherine; Hall, Georgina; Black, Graeme Cm

    2015-04-01

    This study aims to identify and quantify the extent of current variation in service provision of a genetic testing service for dominant and X-linked retinal dystrophies in the English National Health Service (NHS). National audit data (all test requests and results (n = 1839) issued between 2003 and 2011) and survey of English regional genetic testing services were used. Age- and gender-adjusted standardised testing rates were calculated using indirect standardisation, and survey responses were transcribed verbatim and data collated and summarised. The cumulative incidence rate of testing in England was 4.5 per 100,000 population for males and 2.6 per 100,000 population for females. The standardised testing rate (STR) varied widely between regions of England, being particularly low in the North-east (STR 0.485), with half as many tests as expected based on the size and demographic distribution of the population and high in the South-east (STR 1.355), with 36 % more tests than expected. Substantial and significantly different rates of testing were found between regional populations. Specific policy mechanisms to promote, monitor and evaluate the regional distribution of access to genetic and genomic testing are required. However, commissioners will require information on the scope and role of genetic services and the population at risk of the conditions for which patients are tested.

  11. AgBioData | National Agricultural Library

    Science.gov Websites

    Skip to main content Home National Agricultural Library United States Department of Agriculture Ag National Invertebrate Genetic Resources Insects impact American agriculture both as destructive and , biotypes, and other genetic entities and to document their different interactions with agriculture and the

  12. Genetic Counseling

    MedlinePlus

    ... Testing Evaluating Genomic Tests Epidemiology Pathogen Genomics Resources Genetic Counseling Recommend on Facebook Tweet Share Compartir In ... informed decisions about testing and treatment. Reasons for Genetic Counseling There are many reasons that people go ...

  13. EVALUATION OF THE HTA CORE MODEL FOR NATIONAL HEALTH TECHNOLOGY ASSESSMENT REPORTS: COMPARATIVE STUDY AND EXPERIENCES FROM EUROPEAN COUNTRIES.

    PubMed

    Kõrge, Kristina; Berndt, Nadine; Hohmann, Juergen; Romano, Florence; Hiligsmann, Mickael

    2017-01-01

    The health technology assessment (HTA) Core Model® is a tool for defining and standardizing the elements of HTA analyses within several domains for producing structured reports. This study explored the parallels between the Core Model and a national HTA report. Experiences from various European HTA agencies were also investigated to determine the Core Model's adaptability to national reports. A comparison between a national report on Genetic Counseling, produced by the Cellule d'expertise médicale Luxembourg, and the Core Model was performed to identify parallels in terms of relevant and comparable assessment elements (AEs). Semi-structured interviews with five representatives from European HTA agencies were performed to assess their user experiences with the Core Model. The comparative study revealed that 50 percent of the total number (n = 144) of AEs in the Core Model were relevant for the national report. Of these 144 AEs from the Core Model, 34 (24 percent) were covered in the national report. Some AEs were covered only partly. The interviewees emphasized flexibility in using the Core Model and stated that the most important aspects to be evaluated include characteristics of the disease and technology, clinical effectiveness, economic aspects, and safety. In the present study, the national report covered an acceptable number of AEs of the Core Model. These results need to be interpreted with caution because only one comparison was performed. The Core Model can be used in a flexible manner, applying only those elements that are relevant from the perspective of the technology assessment and specific country context.

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

    PubMed

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

    2015-09-01

    The aims of this study were to explore the relationship between physicians' knowledge and utilization of genetic testing and to explore genetics educational needs in China. An anonymous survey about experience, attitudes, and knowledge of genetic testing was conducted among physicians affiliated with Peking Union Medical College Hospital during their annual health evaluation. A personal genetics knowledge score was developed and predictors of personal genetics knowledge score were evaluated. Sixty-four physicians (33% male) completed the survey. Fifty-eight percent of them had used genetic testing in their clinical practice. Using a 4-point scale, mean knowledge scores of six common genetic testing techniques ranged from 1.7 ± 0.9 to 2.4 ± 1.0, and the average personal genetics knowledge score was 2.1 ± 0.8. In regression analysis, significant predictors of higher personal genetics knowledge score were ordering of genetic testing, utilization of pedigrees, higher medical degree, and recent genetics training (P < 0.05). Sixty-six percent of physicians indicated a desire for specialized genetic services, and 84% reported a desire for additional genetics education. This study demonstrated a sizable gap between Chinese physicians' knowledge and utilization of genetic testing. Participants had high self-perceived genetics educational needs. Development of genetics educational platforms is both warranted and desired in China.Genet Med 17 9, 757-760.

  15. Genetic Influences on Adolescent Eating Habits

    ERIC Educational Resources Information Center

    Beaver, Kevin M.; Flores, Tori; Boutwell, Brian B.; Gibson, Chris L.

    2012-01-01

    Behavioral genetic research shows that variation in eating habits and food consumption is due to genetic and environmental factors. The current study extends this line of research by examining the genetic contribution to adolescent eating habits. Analysis of sibling pairs drawn from the National Longitudinal Study of Adolescent Health (Add Health)…

  16. Genetic Testing: MedlinePlus Health Topic

    MedlinePlus

    ... Disease Control and Prevention) Glossary (National Center for Biotechnology Information) Talking Glossary of Genetic Terms (National Human Genome Research Institute) Also in Spanish Find an Expert ...

  17. Evaluating realized genetic gains from tree improvement.

    Treesearch

    J.B. St. Clair

    1993-01-01

    Tree improvement has become an essential part of the management of forest lands for wood production, and predicting yields and realized gains from forests planted with genetically-improved trees will become increasingly important. This paper discusses concepts of tree improvement and genetic gain important to growth and yield modeling, and reviews previous studies of...

  18. Genetics Home Reference: renal tubular dysgenesis

    MedlinePlus

    ... genetic condition? Genetic and Rare Diseases Information Center Frequency Renal tubular dysgenesis is a rare disorder, but ... of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  19. 78 FR 13085 - Proposed Collection, Comments Requested: FBI National Academy Level 1 Evaluation: Student Course...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-02-26

    ..., Comments Requested: FBI National Academy Level 1 Evaluation: Student Course Questionnaire and FBI National Academy: General Remarks Questionnaire ACTION: 60-day notice. The Department of Justice (DOJ), Federal... Evaluation: Student Course Questionnaire FBI National Academy: General Remarks Questionnaire. 3. Agency Form...

  20. A fine structure genetic analysis evaluating ecoregional adaptability of a Bos taurus breed (Hereford)

    PubMed Central

    Krehbiel, B.; Ericsson, S. A.; Wilson, C.; Caetano, A. R.; Paiva, S. R.

    2017-01-01

    Ecoregional differences contribute to genetic environmental interactions and impact animal performance. These differences may become more important under climate change scenarios. Utilizing genetic diversity within a species to address such problems has not been fully explored. In this study Hereford cattle were genotyped with 50K Bead Chip or 770K Bovine Bead Chip to test the existence of genetic structure in five U.S. ecoregions characterized by precipitation, temperature and humidity and designated: cool arid (CA), cool humid (CH), transition zone (TZ), warm arid (WA), and warm humid (WH). SNP data were analyzed in three sequential analyses. Broad genetic structure was evaluated with STRUCTURE, and ADMIXTURE software using 14,312 SNPs after passing quality control variables. The second analysis was performed using principal coordinate analysis with 66 Tag SNPs associated in the literature with various aspects of environmental stressors (e.g., heat tolerance) or production (e.g., milk production). In the third analysis TreeSelect was used with the 66 SNPs to evaluate if ecoregional allelic frequencies deviated from a central frequency and by so doing are indicative of directional selection. The three analyses suggested subpopulation structures associated with ecoregions from where animals were derived. ADMIXTURE and PCA results illustrated the importance of temperature and humidity and confirm subpopulation assignments. Comparisons of allele frequencies with TreeSelect showed ecoregion differences, in particular the divergence between arid and humid regions. Patterns of genetic variability obtained by medium and high density SNP chips can be used to acclimatize a temperately derived breed to various ecoregions. As climate change becomes an important factor in cattle production, this study should be used as a proof of concept to review future breeding and conservation schemes aimed at adaptation to climatic events. PMID:28459870

  1. Colombian forensic genetics as a form of public science: The role of race, nation and common sense in the stabilization of DNA populations.

    PubMed

    Schwartz-Marín, Ernesto; Wade, Peter; Cruz-Santiago, Arely; Cárdenas, Roosbelinda

    2015-12-01

    Abstract This article examines the role that vernacular notions of racialized-regional difference play in the constitution and stabilization of DNA populations in Colombian forensic science, in what we frame as a process of public science. In public science, the imaginations of the scientific world and common-sense public knowledge are integral to the production and circulation of science itself. We explore the origins and circulation of a scientific object--'La Tabla', published in Paredes et al. and used in genetic forensic identification procedures--among genetic research institutes, forensic genetics laboratories and courtrooms in Bogotá. We unveil the double life of this central object of forensic genetics. On the one hand, La Tabla enjoys an indisputable public place in the processing of forensic genetic evidence in Colombia (paternity cases, identification of bodies, etc.). On the other hand, the relations it establishes between 'race', geography and genetics are questioned among population geneticists in Colombia. Although forensic technicians are aware of the disputes among population geneticists, they use and endorse the relations established between genetics, 'race' and geography because these fit with common-sense notions of visible bodily difference and the regionalization of race in the Colombian nation.

  2. The National Treatment Improvement Evaluation Study: Retention Analysis.

    ERIC Educational Resources Information Center

    Orwin, Rob; Williams, Valerie

    This study focuses on programmatic factors that predict retention for individuals in drug and alcohol treatment programs through secondary analysis of data from the National Treatment Improvement Evaluation Study (NTIES). It addresses the relationships between completion rates, lengths of stay, and treatment modality. It examines the effect of…

  3. Proteomic evaluation of genetically modified crops: current status and challenges

    PubMed Central

    Gong, Chun Yan; Wang, Tai

    2013-01-01

    Hectares of genetically modified (GM) crops have increased exponentially since 1996, when such crops began to be commercialized. GM biotechnology, together with conventional breeding, has become the main approach to improving agronomic traits of crops. However, people are concerned about the safety of GM crops, especially GM-derived food and feed. Many efforts have been made to evaluate the unintended effects caused by the introduction of exogenous genes. “Omics” techniques have advantages over targeted analysis in evaluating such crops because of their use of high-throughput screening. Proteins are key players in gene function and are directly involved in metabolism and cellular development or have roles as toxins, antinutrients, or allergens, which are essential for human health. Thus, proteomics can be expected to become one of the most useful tools in safety assessment. This review assesses the potential of proteomics in evaluating various GM crops. We further describe the challenges in ensuring homogeneity and sensitivity in detection techniques. PMID:23471542

  4. Proteomic evaluation of genetically modified crops: current status and challenges.

    PubMed

    Gong, Chun Yan; Wang, Tai

    2013-01-01

    Hectares of genetically modified (GM) crops have increased exponentially since 1996, when such crops began to be commercialized. GM biotechnology, together with conventional breeding, has become the main approach to improving agronomic traits of crops. However, people are concerned about the safety of GM crops, especially GM-derived food and feed. Many efforts have been made to evaluate the unintended effects caused by the introduction of exogenous genes. "Omics" techniques have advantages over targeted analysis in evaluating such crops because of their use of high-throughput screening. Proteins are key players in gene function and are directly involved in metabolism and cellular development or have roles as toxins, antinutrients, or allergens, which are essential for human health. Thus, proteomics can be expected to become one of the most useful tools in safety assessment. This review assesses the potential of proteomics in evaluating various GM crops. We further describe the challenges in ensuring homogeneity and sensitivity in detection techniques.

  5. Incorporation of genomic information into genetic evaluation: U. S. beef industry as a model

    USDA-ARS?s Scientific Manuscript database

    In his presentation, Dr. Kuehn described approaches for using information garnered through developments in genomics to improve the accuracy of genetic evaluation. He considered the history of these molecular-based techniques, including their strengths and potential weaknesses, and his experiences wi...

  6. National Evaluation of the Youth Firearms Violence Initiative.

    ERIC Educational Resources Information Center

    Dunworth, Terence

    Between 1985 and 1994 the rate of violent criminal acts committed by juveniles rose sharply. Juvenile homicides committed with a handgun more than doubled. This bulletin discusses the national evaluation of the Youth Firearms Violence Initiative (YFVI), a program initiated by the Office of Community Oriented Policing Services (COPS) to fund…

  7. Evaluation of genetically-improved (glandless) and genetically-modified low-gossypol cottonseed meal as alternative protein sources in the diet of juvenile southern flounder Paralichthys lethostigma reared in a recirculating

    USDA-ARS?s Scientific Manuscript database

    Cottonseed meal (CSM) proteins from genetically-improved (glandless) seed (GI-CSM, 52.1% crude protein, CP), genetically-modified low-gossypol seed (GMO-CSM, 56.0% CP) and from an untreated regular (glanded) seed (R-CSM 49.9% CP) were evaluated to replace fish meal (FM) protein (59.5% CP) in juvenil...

  8. Genetic fidelity and variability of micropropagated cassava plants (Manihot esculenta Crantz) evaluated using ISSR markers.

    PubMed

    Vidal, Á M; Vieira, L J; Ferreira, C F; Souza, F V D; Souza, A S; Ledo, C A S

    2015-07-14

    Molecular markers are efficient for assessing the genetic fidelity of various species of plants after in vitro culture. In this study, we evaluated the genetic fidelity and variability of micropropagated cassava plants (Manihot esculenta Crantz) using inter-simple sequence repeat markers. Twenty-two cassava accessions from the Embrapa Cassava & Fruits Germplasm Bank were used. For each accession, DNA was extracted from a plant maintained in the field and from 3 plants grown in vitro. For DNA amplification, 27 inter-simple sequence repeat primers were used, of which 24 generated 175 bands; 100 of those bands were polymorphic and were used to study genetic variability among accessions of cassava plants maintained in the field. Based on the genetic distance matrix calculated using the arithmetic complement of the Jaccard's index, genotypes were clustered using the unweighted pair group method using arithmetic averages. The number of bands per primer was 2-13, with an average of 7.3. For most micropropagated accessions, the fidelity study showed no genetic variation between plants of the same accessions maintained in the field and those maintained in vitro, confirming the high genetic fidelity of the micropropagated plants. However, genetic variability was observed among different accessions grown in the field, and clustering based on the dissimilarity matrix revealed 7 groups. Inter-simple sequence repeat markers were efficient for detecting the genetic homogeneity of cassava plants derived from meristem culture, demonstrating the reliability of this propagation system.

  9. Development and Evaluation of Event-Specific Quantitative PCR Method for Genetically Modified Soybean MON87701.

    PubMed

    Tsukahara, Keita; Takabatake, Reona; Masubuchi, Tomoko; Futo, Satoshi; Minegishi, Yasutaka; Noguchi, Akio; Kondo, Kazunari; Nishimaki-Mogami, Tomoko; Kurashima, Takeyo; Mano, Junichi; Kitta, Kazumi

    2016-01-01

    A real-time PCR-based analytical method was developed for the event-specific quantification of a genetically modified (GM) soybean event, MON87701. First, a standard plasmid for MON87701 quantification was constructed. The conversion factor (C f ) required to calculate the amount of genetically modified organism (GMO) was experimentally determined for a real-time PCR instrument. The determined C f for the real-time PCR instrument was 1.24. For the evaluation of the developed method, a blind test was carried out in an inter-laboratory trial. The trueness and precision were evaluated as the bias and reproducibility of relative standard deviation (RSDr), respectively. The determined biases and the RSDr values were less than 30 and 13%, respectively, at all evaluated concentrations. The limit of quantitation of the method was 0.5%, and the developed method would thus be applicable for practical analyses for the detection and quantification of MON87701.

  10. A Lens for Evaluating Genetic Information Governance Models: Balancing Equity, Efficiency and Sustainability.

    PubMed

    Skorve, Espen; Vassilakopoulou, Polyxeni; Aanestad, Margunn; Grünfeld, Thomas

    2017-01-01

    This paper draws from the literature on collective action and the governance of the commons to address the governance of genetic data on variants of specific genes. Specifically, the data arrangements under study relate to the BRCA genes (BRCA1 and BRCA2) which are linked to breast and ovarian cancer. These data are stored in global genetic data repositories and accessed by researchers and clinicians, from both public and private institutions. The current BRCA data arrangements are fragmented and politicized as there are multiple tensions around data ownership and sharing. Three key principles are proposed for forming and evaluating data governance arrangements in the field. These principles are: equity, efficiency and sustainability.

  11. Genetic secrets: Protecting privacy and confidentiality in the genetic era. Final report

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Rothstein, M.A.

    1998-09-01

    Few developments are likely to affect human beings more profoundly in the long run than the discoveries resulting from advances in modern genetics. Although the developments in genetic technology promise to provide many additional benefits, their application to genetic screening poses ethical, social, and legal questions, many of which are rooted in issues of privacy and confidentiality. The ethical, practical, and legal ramifications of these and related questions are explored in depth. The broad range of topics includes: the privacy and confidentiality of genetic information; the challenges to privacy and confidentiality that may be projected to result from the emergingmore » genetic technologies; the role of informed consent in protecting the confidentiality of genetic information in the clinical setting; the potential uses of genetic information by third parties; the implications of changes in the health care delivery system for privacy and confidentiality; relevant national and international developments in public policies, professional standards, and laws; recommendations; and the identification of research needs.« less

  12. Awareness of Cancer Susceptibility Genetic Testing

    PubMed Central

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

    2014-01-01

    Background Genetic testing for several cancer susceptibility syndromes is clinically available; however, existing data suggest limited population awareness of such tests. Purpose To examine awareness regarding cancer genetic testing in the U.S. population aged ≥25 years in the 2000, 2005, and 2010 National Health Interview Surveys. Methods The weighted percentages of respondents aware of cancer genetic tests, and percent changes from 2000–2005 and 2005–2010, overall and by demographic, family history, and healthcare factors were calculated. Interactions were used to evaluate the patterns of change in awareness between 2005 and 2010 among subgroups within each factor. To evaluate associations with awareness in 2005 and 2010, percentages were adjusted for covariates using multiple logistic regression. The analysis was performed in 2012. Results Awareness decreased from 44.4% to 41.5% (p<0.001) between 2000 and 2005, and increased to 47.0% (p<0.001) in 2010. Awareness increased between 2005 and 2010 in most subgroups, particularly among individuals in the South (p-interaction=0.03) or with a usual place of care (p-interaction=0.01). In 2005 and 2010, awareness was positively associated with personal or family cancer history and high perceived cancer risk, and inversely associated with racial/ethnic minorities, age 25–39 or ≥60 years, male gender, lower education and income levels, public or no health insurance, and no provider contact in 12 months. Conclusions Despite improvement from 2005 to 2010, ≤50% of the U.S. adult population was aware of cancer genetic testing in 2010. Notably, disparities persist for racial/ethnic minorities and individuals with limited health care access or income. PMID:24745633

  13. [Protection value evaluation of national wetland parks in Hunan Province, China].

    PubMed

    Wu, Hou Jian; Dan, Xin Qiu; Liu, Shi Hao; Huang, Yan; Shu, Yong; Cao, Hong; Wu, Zhao Bai

    2017-01-01

    This paper put forward an evaluation index system which included 5 aspects such as ecological location and representation, biodiversity, species rarity, naturality, scale and partition suitability as well as 15 indicators to assess the protection values of 60 national wetland parks in Hunan Province, China. Analytic hierarchy process (AHP) and entropy method were used in this evaluation index system. There were 37 national wetland parks (accounting for 61.7%) keeping high protection values with scores of greater than or equal to 67.64 points, and 12 national wetland parks (accounting for 20.0%) keeping very high protection values with scores of greater than or equal to 77.72 points. Although there was a discrete and rare regularity of the inter-annual variation, these values still showed a decreasing trend in general. From the space point of view, 70 points isogram divided the national wetland parks of Hunan Province into two high score areas and three high score points in the west and east area, and one low score area and four low score points in the middle. Ecological location, resource endowment and scale were the decisive factors for the conservation va-lues of national wetland parks in Hunan Province.

  14. Genetic Modification of the Relationship between Parental Rejection and Adolescent Alcohol Use.

    PubMed

    Stogner, John M; Gibson, Chris L

    2016-07-01

    Parenting practices are associated with adolescents' alcohol consumption, however not all youth respond similarly to challenging family situations and harsh environments. This study examines the relationship between perceived parental rejection and adolescent alcohol use, and specifically evaluates whether youth who possess greater genetic sensitivity to their environment are more susceptible to negative parental relationships. Analyzing data from the National Longitudinal Study of Adolescent Health, we estimated a series of regression models predicting alcohol use during adolescence. A multiplicative interaction term between parental rejection and a genetic index was constructed to evaluate this potential gene-environment interaction. Results from logistic regression analyses show a statistically significant gene-environment interaction predicting alcohol use. The relationship between parental rejection and alcohol use was moderated by the genetic index, indicating that adolescents possessing more 'risk alleles' for five candidate genes were affected more by stressful parental relationships. Feelings of parental rejection appear to influence the alcohol use decisions of youth, but they do not do so equally for all. Higher scores on the constructed genetic sensitivity measure are related to increased susceptibility to negative parental relationships. © The Author 2016. Medical Council on Alcohol and Oxford University Press. All rights reserved.

  15. Genetic evaluation of the evolutionary distinctness of a federally endangered butterfly, Lange's Metalmark.

    PubMed

    Proshek, Benjamin; Dupuis, Julian R; Engberg, Anna; Davenport, Ken; Opler, Paul A; Powell, Jerry A; Sperling, Felix A H

    2015-04-25

    The Mormon Metalmark (Apodemia mormo) species complex occurs as isolated and phenotypically variable colonies in dryland areas across western North America. Lange's Metalmark, A. m. langei, one of the 17 subspecies taxonomically recognized in the complex, is federally listed under the U.S. Endangered Species Act of 1973. Metalmark taxa have traditionally been described based on phenotypic and ecological characteristics, and it is unknown how well this nomenclature reflects their genetic and evolutionary distinctiveness. Genetic variation in six microsatellite loci and mitochondrial cytochrome oxidase subunit I sequence was used to assess the population structure of the A. mormo species complex across 69 localities, and to evaluate A. m. langei's qualifications as an Evolutionarily Significant Unit. We discovered substantial genetic divergence within the species complex, especially across the Continental Divide, with population genetic structure corresponding more closely with geographic proximity and local isolation than with taxonomic divisions originally based on wing color and pattern characters. Lange's Metalmark was as genetically divergent as several other locally isolated populations in California, and even the unique phenotype that warranted subspecific and conservation status is reminiscent of the morphological variation found in some other populations. This study is the first genetic treatment of the A. mormo complex across western North America and potentially provides a foundation for reassessing the taxonomy of the group. Furthermore, these results illustrate the utility of molecular markers to aid in demarcation of biological units below the species level. From a conservation point of view, Apodemia mormo langei's diagnostic taxonomic characteristics may, by themselves, not support its evolutionary significance, which has implications for its formal listing as an Endangered Species.

  16. Medical Genetics and the First Studies of the Genetics of Populations in Mexico.

    PubMed

    Barahona, Ana

    2016-09-01

    Following World War II (WWII), there was a new emphasis within genetics on studying the genetic composition of populations. This probably had a dual source in the growing strength of evolutionary biology and the new international interest in understanding the effects of radiation on human populations, following the atomic bombings in Japan. These global concerns were shared by Mexican physicians. Indeed, Mexico was one of the leading centers of this trend in human genetics. Three leading players in this story were Mario Salazar Mallén, Adolfo Karl, and Rubén Lisker. Their trajectories and the international networks in human genetics that were established after WWII, paved the way for the establishment of medical and population genetics in Mexico. Salazar Mallén's studies on the distribution and characterization of ABO blood groups in indigenous populations were the starting point while Karl's studies on the distribution of abnormal hemoglobin in Mexican indigenous populations showed the relationships observed in other laboratories at the time. It was Lisker's studies, however, that were instrumental in the development of population genetics in the context of national public policies for extending health care services to the Mexican population. In particular, he conducted studies on Mexican indigenous groups contributing to the knowledge of the biological diversity of human populations according to international trends that focused on the variability of human populations in terms of genetic frequencies. From the start, however, Lisker was as committed to the reconstruction of shared languages and practices as he was to building networks of collaboration in order to guarantee the necessary groundwork for establishing the study of the genetics of human populations in Mexico. This study also allows us to place Mexican science within a global context in which connected narratives describe the interplay between global trends and national contexts. Copyright © 2016 by

  17. Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.

    PubMed

    Langfelder-Schwind, Elinor; Karczeski, Barbara; Strecker, Michelle N; Redman, Joy; Sugarman, Elaine A; Zaleski, Christina; Brown, Trisha; Keiles, Steven; Powers, Amy; Ghate, Sumheda; Darrah, Rebecca

    2014-02-01

    To provide practice recommendations for genetic counselors whose clients are considering cystic fibrosis (CF) carrier testing or seeking information regarding CF molecular test results. The goals of these recommendations are to: 1) Provide updated information about the natural history, diagnosis, and treatment of CF and related conditions. 2) Supplement genetic counselors' knowledge and understanding of the available carrier screening and diagnostic testing options. 3) Describe the current state of genotype/phenotype correlations for CFTR mutations and an approach to interpreting both novel and previously described variants. 4) Provide a framework for genetic counselors to assist clients' decision-making regarding CF carrier testing, prenatal diagnosis, and pregnancy management. Disclaimer The practice guidelines of the National Society of Genetic Counselors (NSGC) are developed by members of the NSGC to assist genetic counselors and other health care providers in making decisions about appropriate management of genetic concerns; including access to and/or delivery of services. Each practice guideline focuses on a clinical or practice-based issue, and is the result of a review and analysis of current professional literature believed to be reliable. As such, information and recommendations within the NSGC practice guidelines reflect the current scientific and clinical knowledge at the time of publication, are only current as of their publication date, and are subject to change without notice as advances emerge.In addition, variations in practice, which take into account the needs of the individual patient and the resources and limitations unique to the institution or type of practice, may warrant approaches, treatments and/or procedures that differ from the recommendations outlined in this guideline. Therefore, these recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular

  18. Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.

    PubMed

    Banda, Yambazi; Kvale, Mark N; Hoffmann, Thomas J; Hesselson, Stephanie E; Ranatunga, Dilrini; Tang, Hua; Sabatti, Chiara; Croen, Lisa A; Dispensa, Brad P; Henderson, Mary; Iribarren, Carlos; Jorgenson, Eric; Kushi, Lawrence H; Ludwig, Dana; Olberg, Diane; Quesenberry, Charles P; Rowell, Sarah; Sadler, Marianne; Sakoda, Lori C; Sciortino, Stanley; Shen, Ling; Smethurst, David; Somkin, Carol P; Van Den Eeden, Stephen K; Walter, Lawrence; Whitmer, Rachel A; Kwok, Pui-Yan; Schaefer, Catherine; Risch, Neil

    2015-08-01

    Using genome-wide genotypes, we characterized the genetic structure of 103,006 participants in the Kaiser Permanente Northern California multi-ethnic Genetic Epidemiology Research on Adult Health and Aging Cohort and analyzed the relationship to self-reported race/ethnicity. Participants endorsed any of 23 race/ethnicity/nationality categories, which were collapsed into seven major race/ethnicity groups. By self-report the cohort is 80.8% white and 19.2% minority; 93.8% endorsed a single race/ethnicity group, while 6.2% endorsed two or more. Principal component (PC) and admixture analyses were generally consistent with prior studies. Approximately 17% of subjects had genetic ancestry from more than one continent, and 12% were genetically admixed, considering only nonadjacent geographical origins. Self-reported whites were spread on a continuum along the first two PCs, indicating extensive mixing among European nationalities. Self-identified East Asian nationalities correlated with genetic clustering, consistent with extensive endogamy. Individuals of mixed East Asian-European genetic ancestry were easily identified; we also observed a modest amount of European genetic ancestry in individuals self-identified as Filipinos. Self-reported African Americans and Latinos showed extensive European and African genetic ancestry, and Native American genetic ancestry for the latter. Among 3741 genetically identified parent-child pairs, 93% were concordant for self-reported race/ethnicity; among 2018 genetically identified full-sib pairs, 96% were concordant; the lower rate for parent-child pairs was largely due to intermarriage. The parent-child pairs revealed a trend toward increasing exogamy over time; the presence in the cohort of individuals endorsing multiple race/ethnicity categories creates interesting challenges and future opportunities for genetic epidemiologic studies. Copyright © 2015 by the Genetics Society of America.

  19. A nationwide genetic testing survey in Italy, year 2007.

    PubMed

    Dallapiccola, Bruno; Torrente, Isabella; Agolini, Emanuele; Morena, Arnaldo; Mingarelli, Rita

    2010-02-01

    The aim of this study was to collect the practices of cytogenetic and molecular genetic testing and genetic counseling activities in Italy in the year 2007 and provide guidance to the national and regional health systems to improve the organization of genetic services. A web-based survey was carried out to assess the total number and the type of analyses, the number and type of genetic counseling sessions, and the personnel attending these activities. The quality management system of the responding structures, in terms of certification and accreditation standards, was also investigated. The appropriateness of requests for genetic testing was evaluated for six disorders. Data were collected from 278 responding centers, half of which were located in the northern regions of the country. Twenty-eight percent of the total were certified according to quality standards. A total of 217 molecular genetic and 171 cytogenetic laboratories, and 102 clinical genetic services were surveyed. About 560,000 genetic tests, including 311,069 cytogenetic and 248,691 molecular genetic analyses of 556 genes, were recorded. The fetal karyotype was examined on either trophoblast or amniocytes in about one of every 4.4 pregnancies. Only 11.5% of cytogenetic analyses and 13.5% of molecular tests were accompanied by genetic counseling. Concerning the appropriateness of a request for genetic testing, a low congruity was found between the clinical diagnosis and the laboratory results. This study highlights the need for reorganizing the genetic structure network in Italy, which at present is oversized, improving the quality management systems, expanding the availability of testing for rare disease genes, and improving access to pretest and posttest genetic counseling.

  20. Conflicts of interest among committee members in the National Academies’ genetically engineered crop study

    PubMed Central

    2017-01-01

    The National Academies of Sciences, Engineering and Medicine (NASEM) publishes numerous reports each year that are received with high esteem by the scientific community and public policy makers. The NASEM has internal standards for selecting committee members that author its reports, mostly from academia, and vetting conflicts of interest. This study examines whether there were any financial conflicts of interest (COIs) among the twenty invited committee members who wrote the 2016 report on genetically engineered (GE) crops. Our results showed that six panel members had one or more reportable financial COIs, none of which were disclosed in the report. We also report on institutional COIs held by the NASEM related to the report. The difference between our findings and the NASEM reporting standards are discussed. PMID:28245228

  1. Invited review: Genetics and claw health: Opportunities to enhance claw health by genetic selection.

    PubMed

    Heringstad, B; Egger-Danner, C; Charfeddine, N; Pryce, J E; Stock, K F; Kofler, J; Sogstad, A M; Holzhauer, M; Fiedler, A; Müller, K; Nielsen, P; Thomas, G; Gengler, N; de Jong, G; Ødegård, C; Malchiodi, F; Miglior, F; Alsaaod, M; Cole, J B

    2018-06-01

    Routine recording of claw health status at claw trimming of dairy cattle has been established in several countries, providing valuable data for genetic evaluation. In this review, we examine issues related to genetic evaluation of claw health; discuss data sources, trait definitions, and data validation procedures; and present a review of genetic parameters, possible indicator traits, and status of genetic and genomic evaluations for claw disorders. Different sources of data and traits can be used to describe claw health. Severe cases of claw disorders can be identified by veterinary diagnoses. Data from lameness and locomotion scoring, activity information from sensors, and feet and leg conformation traits are used as auxiliary traits. The most reliable and comprehensive information is data from regular hoof trimming. In genetic evaluation, claw disorders are usually defined as binary traits, based on whether or not the claw disorder was present (recorded) at least once during a defined time period. The traits can be specific disorders, composite traits, or overall claw health. Data validation and editing criteria are needed to ensure reliable data at the trimmer, herd, animal, and record levels. Different strategies have been chosen, reflecting differences in herd sizes, data structures, management practices, and recording systems among countries. Heritabilities of the most commonly analyzed claw disorders based on data from routine claw trimming were generally low, with ranges of linear model estimates from 0.01 to 0.14, and threshold model estimates from 0.06 to 0.39. Estimated genetic correlations among claw disorders varied from -0.40 to 0.98. The strongest genetic correlations were found among sole hemorrhage (SH), sole ulcer (SU), and white line disease (WL), and between digital/interdigital dermatitis (DD/ID) and heel horn erosion (HHE). Genetic correlations between DD/ID and HHE on the one hand and SH, SU, or WL on the other hand were, in most cases, low

  2. Colombian forensic genetics as a form of public science: The role of race, nation and common sense in the stabilization of DNA populations

    PubMed Central

    Schwartz-Marín, Ernesto; Wade, Peter; Cruz-Santiago, Arely; Cárdenas, Roosbelinda

    2015-01-01

    This article examines the role that vernacular notions of racialized-regional difference play in the constitution and stabilization of DNA populations in Colombian forensic science, in what we frame as a process of public science. In public science, the imaginations of the scientific world and common-sense public knowledge are integral to the production and circulation of science itself. We explore the origins and circulation of a scientific object – ‘La Tabla’, published in Paredes et al. and used in genetic forensic identification procedures – among genetic research institutes, forensic genetics laboratories and courtrooms in Bogotá. We unveil the double life of this central object of forensic genetics. On the one hand, La Tabla enjoys an indisputable public place in the processing of forensic genetic evidence in Colombia (paternity cases, identification of bodies, etc.). On the other hand, the relations it establishes between ‘race’, geography and genetics are questioned among population geneticists in Colombia. Although forensic technicians are aware of the disputes among population geneticists, they use and endorse the relations established between genetics, ‘race’ and geography because these fit with common-sense notions of visible bodily difference and the regionalization of race in the Colombian nation. PMID:27480000

  3. Essay Contest Reveals Misconceptions of High School Students in Genetics Content

    PubMed Central

    Mills Shaw, Kenna R.; Van Horne, Katie; Zhang, Hubert; Boughman, Joann

    2008-01-01

    National educational organizations have called upon scientists to become involved in K–12 education reform. From sporadic interaction with students to more sustained partnerships with teachers, the engagement of scientists takes many forms. In this case, scientists from the American Society of Human Genetics (ASHG), the Genetics Society of America (GSA), and the National Society of Genetic Counselors (NSGC) have partnered to organize an essay contest for high school students as part of the activities surrounding National DNA Day. We describe a systematic analysis of 500 of 2443 total essays submitted in response to this contest over 2 years. Our analysis reveals the nature of student misconceptions in genetics, the possible sources of these misconceptions, and potential ways to galvanize genetics education. PMID:18245328

  4. An Evaluation of the Effectiveness of National Park Service Interpretive Planning

    ERIC Educational Resources Information Center

    Wells, Marcella

    2008-01-01

    In 2005-2006, the National Park Service Office of Interpretive Planning at Harpers Ferry Center, in collaboration with the author, conducted an evaluation project to (a) assess the appropriateness and quality of specific elements of National Park Service (NPS) interpretive plans, (b) determine where improvements in planning might be made, and (c)…

  5. Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort

    PubMed Central

    Banda, Yambazi; Kvale, Mark N.; Hoffmann, Thomas J.; Hesselson, Stephanie E.; Ranatunga, Dilrini; Tang, Hua; Sabatti, Chiara; Croen, Lisa A.; Dispensa, Brad P.; Henderson, Mary; Iribarren, Carlos; Jorgenson, Eric; Kushi, Lawrence H.; Ludwig, Dana; Olberg, Diane; Quesenberry, Charles P.; Rowell, Sarah; Sadler, Marianne; Sakoda, Lori C.; Sciortino, Stanley; Shen, Ling; Smethurst, David; Somkin, Carol P.; Van Den Eeden, Stephen K.; Walter, Lawrence; Whitmer, Rachel A.; Kwok, Pui-Yan; Schaefer, Catherine; Risch, Neil

    2015-01-01

    Using genome-wide genotypes, we characterized the genetic structure of 103,006 participants in the Kaiser Permanente Northern California multi-ethnic Genetic Epidemiology Research on Adult Health and Aging Cohort and analyzed the relationship to self-reported race/ethnicity. Participants endorsed any of 23 race/ethnicity/nationality categories, which were collapsed into seven major race/ethnicity groups. By self-report the cohort is 80.8% white and 19.2% minority; 93.8% endorsed a single race/ethnicity group, while 6.2% endorsed two or more. Principal component (PC) and admixture analyses were generally consistent with prior studies. Approximately 17% of subjects had genetic ancestry from more than one continent, and 12% were genetically admixed, considering only nonadjacent geographical origins. Self-reported whites were spread on a continuum along the first two PCs, indicating extensive mixing among European nationalities. Self-identified East Asian nationalities correlated with genetic clustering, consistent with extensive endogamy. Individuals of mixed East Asian–European genetic ancestry were easily identified; we also observed a modest amount of European genetic ancestry in individuals self-identified as Filipinos. Self-reported African Americans and Latinos showed extensive European and African genetic ancestry, and Native American genetic ancestry for the latter. Among 3741 genetically identified parent–child pairs, 93% were concordant for self-reported race/ethnicity; among 2018 genetically identified full-sib pairs, 96% were concordant; the lower rate for parent–child pairs was largely due to intermarriage. The parent–child pairs revealed a trend toward increasing exogamy over time; the presence in the cohort of individuals endorsing multiple race/ethnicity categories creates interesting challenges and future opportunities for genetic epidemiologic studies. PMID:26092716

  6. Statistical tests for detecting associations with groups of genetic variants: generalization, evaluation, and implementation

    PubMed Central

    Ferguson, John; Wheeler, William; Fu, YiPing; Prokunina-Olsson, Ludmila; Zhao, Hongyu; Sampson, Joshua

    2013-01-01

    With recent advances in sequencing, genotyping arrays, and imputation, GWAS now aim to identify associations with rare and uncommon genetic variants. Here, we describe and evaluate a class of statistics, generalized score statistics (GSS), that can test for an association between a group of genetic variants and a phenotype. GSS are a simple weighted sum of single-variant statistics and their cross-products. We show that the majority of statistics currently used to detect associations with rare variants are equivalent to choosing a specific set of weights within this framework. We then evaluate the power of various weighting schemes as a function of variant characteristics, such as MAF, the proportion associated with the phenotype, and the direction of effect. Ultimately, we find that two classical tests are robust and powerful, but details are provided as to when other GSS may perform favorably. The software package CRaVe is available at our website (http://dceg.cancer.gov/bb/tools/crave). PMID:23092956

  7. Genomics & Genetics | National Agricultural Library

    Science.gov Websites

    Skip to main content Home National Agricultural Library United States Department of Agriculture Ag agricultural and environmental settings. Deadpool proximal sensing cart docx xlsx 3x jpeg 5x pdf Data from Buytaert. NAL Home | USDA.gov | Agricultural Research Service | Plain Language | FOIA | Accessibility

  8. Industry benefits from recent genetic progress in sheep and beef populations.

    PubMed

    Amer, P R; Nieuwhof, G J; Pollott, G E; Roughsedge, T; Conington, J; Simm, G

    2007-11-01

    An analytical model that evaluates the benefits from 10 years of genetic improvement over a 20-year time frame was specified. Estimates of recent genetic trends in recorded traits, industry statistics and published estimates of the economic values of trait changes were used to parameterise the model for the UK sheep and beef industries. Despite rates of genetic change in the relevant performance-recorded breeding populations being substantially less than theoretical predictions, the financial benefits of genetic change were substantial. Over 20 years, the benefits from 10 years of genetic progress at recently achieved rates in recorded hill sheep, sheep crossing sire and sheep terminal sire breeding programmes was estimated to be £5.3, £1.0 and £11.5 million, respectively. If dissemination of genetic material is such that these rates of change are also realised across the entire ram breeding industry, the combined benefits would be £110.8 million. For beef cattle, genetic evaluation systems have been operating within all the major breeds for some years with quite widespread use of performance recording, and so genetic trends within the beef breeds were used as predictors of industry genetic change. Benefits from 10 years of genetic progress at recent rates of change, considering a 20-year time frame, in terminal sire beef breeds are expected to be £4.9 million. Benefits from genetic progress for growth and carcass characters in dual-purpose beef breeds were £18.2 million after subtraction of costs associated with a deterioration in calving traits. These benefits may be further offset by unfavourable associated changes in maternal traits. Additional benefits from identification and use of the best animals available from the breeding sector for commercial matings through performance recording and genetic evaluation could not be quantified. When benefits of genetic improvement were expressed on an annual present value basis and compared with lagged annual

  9. The Queensland experience of participation in a national drug use evaluation project, Community-acquired pneumonia – towards improving outcomes nationally (CAPTION)

    PubMed Central

    Pulver, Lisa K; Tett, Susan E; Coombes, Judith

    2009-01-01

    Background Multicentre drug use evaluations are described in the literature infrequently and usually publish only the results. The purpose of this paper is to describe the experience of Queensland hospitals participating in the Community-Acquired Pneumonia Towards Improving Outcomes Nationally (CAPTION) project, specifically evaluating the implementation of this project, detailing benefits and drawbacks of involvement in a national drug use evaluation program. Methods Emergency departments from nine hospitals in Queensland, Australia, participated in CAPTION, a national quality improvement project, conducted in 37 Australian hospitals. CAPTION was aimed at optimising prescribing in the management of Community-Acquired Pneumonia according to the recommendations of the Australian Therapeutic Guidelines: Antibiotic 12th edition. The project involved data collection, and evaluation, feedback of results and a suite of targeted educational interventions including audit and feedback, group presentations and academic detailing. A baseline audit and two drug use evaluation cycles were conducted during the 2-year project. The implementation of the project was evaluated using feedback forms after each phase of the project (audit or intervention). At completion a group meeting with the hospital coordinators identified positive and negative elements of the project. Results Evaluation by hospitals of their participation in CAPTION demonstrated both benefits and drawbacks. The benefits were grouped into the impact on the hospital dynamic such as; improved interdisciplinary working relationships (e.g. between pharmacist and doctor), recognition of the educational/academic role of the pharmacist, creation of ED Pharmacist positions and enhanced involvement with the National Prescribing Service, and personal benefits. Personal benefits included academic detailing training for participants, improved communication skills and opportunities to present at conferences. The principal

  10. Evaluation of the national tuberculosis surveillance program in Haiti

    PubMed Central

    Salyer, S. J.; Fitter, D. L.; Milo, R.; Blanton, C.; Ho, J. L.; Geffrard, H.; Morose, W.; Marston, B. J.

    2015-01-01

    OBJECTIVE To assess the quality of tuberculosis (TB) surveillance in Haiti, including whether underreporting from facilities to the national level contributes to low national case registration. METHODS We collected 2010 and 2012 TB case totals, reviewed laboratory registries, and abstracted individual TB case reports from 32 of 263 anti-tuberculosis treatment facilities randomly selected after stratification/weighting toward higher-volume facilities. We compared site results to national databases maintained by a non-governmental organization partner (International Child Care [ICC]) for 2010 and 2012, and the National TB Program (Programme National de Lutte contre la Tuberculose, PNLT) for 2012 only. RESULTS Case registries were available at 30/32 facilities for 2010 and all 32 for 2012. Totals of 3711 (2010) and 4143 (2012) cases were reported at the facilities. Case totals per site were higher in site registries than in the national databases by 361 (9.7%) (ICC 2010), 28 (0.8%) (ICC 2012), and 31 (0.8%) cases (PNLT 2012). Of abstracted individual cases, respectively 11.8% and 6.8% were not recorded in national databases for 2010 (n = 323) and 2012 (n = 351). CONCLUSIONS The evaluation demonstrated an improvement in reporting registered TB cases to the PNLT in Haiti between 2010 and 2012. Further improvement in case notification will require enhanced case detection and diagnosis. PMID:26260822

  11. Creation and Implementation of an Environmental Scan to Assess Cancer Genetics Services at Three Oncology Care Settings.

    PubMed

    Bednar, Erica M; Walsh, Michael T; Baker, Ellen; Muse, Kimberly I; Oakley, Holly D; Krukenberg, Rebekah C; Dresbold, Cara S; Jenkinson, Sandra B; Eppolito, Amanda L; Teed, Kelly B; Klein, Molly H; Morman, Nichole A; Bowdish, Elizabeth C; Russ, Pauline; Wise, Emaline E; Cooper, Julia N; Method, Michael W; Henson, John W; Grainger, Andrew V; Arun, Banu K; Lu, Karen H

    2018-05-16

    An environmental scan (ES) is an efficient mixed-methods approach to collect and interpret relevant data for strategic planning and project design. To date, the ES has not been used nor evaluated in the clinical cancer genetics setting. We created and implemented an ES to inform the design of a quality improvement (QI) project to increase the rates of adherence to national guidelines for cancer genetic counseling and genetic testing at three unique oncology care settings (OCS). The ES collected qualitative and quantitative data from reviews of internal processes, past QI efforts, the literature, and each OCS. The ES used a data collection form and semi-structured interviews to aid in data collection. The ES was completed within 6 months, and sufficient data were captured to identify opportunities and threats to the QI project's success, as well as potential barriers to, and facilitators of guideline-based cancer genetics services at each OCS. Previously unreported barriers were identified, including inefficient genetic counseling appointment scheduling processes and the inability to track referrals, genetics appointments, and genetic test results within electronic medical record systems. The ES was a valuable process for QI project planning at three OCS and may be used to evaluate genetics services in other settings.

  12. Immunotoxicological evaluation of wheat genetically modified with TaDREB4 gene on BALB/c mice.

    PubMed

    Liang, Chun Lai; Zhang, Xiao Peng; Song, Yan; Jia, Xu Dong

    2013-08-01

    To evaluate the immunotoxicological effects of genetically modified wheat with TaDREB4 gene in female BALB/c mice. Female mice weighing 18-22 g were divided into five groups (10 mice/group), which were set as negative control group, common wheat group, parental wheat group, genetically modified wheat group and cyclophosphamide positive control group, respectively. Mice in negative control group and positive control group were fed with AIN93G diet, mice in common wheat group, non-genetically modified parental wheat group and genetically modified wheat group were fed with feedstuffs added corresponding wheat (the proportion is 76%) for 30 days, then body weight, absolute and relative weight of spleen and thymus, white blood cell count, histological examination of immune organ, peripheral blood lymphocytes phenotyping, serum cytokine, serum immunoglobulin, antibody plaque-forming cell, serum half hemolysis value, mitogen-induced splenocyte proliferation, delayed-type hypersensitivity reaction and phagocytic activities of phagocytes were detected. No immunotoxicological effects related to the consumption of the genetically modified wheat were observed in BALB/c mice when compared with parental wheat group, common wheat group and negative control group. From the immunotoxicological point of view, results from this study demonstrate that genetically modified wheat with TaDREB4 gene is as safe as the parental wheat. Copyright © 2013 The Editorial Board of Biomedical and Environmental Sciences. Published by China CDC. All rights reserved.

  13. Medical Genetics and the First Studies of the Genetics of Populations in Mexico

    PubMed Central

    Barahona, Ana

    2016-01-01

    Following World War II (WWII), there was a new emphasis within genetics on studying the genetic composition of populations. This probably had a dual source in the growing strength of evolutionary biology and the new international interest in understanding the effects of radiation on human populations, following the atomic bombings in Japan. These global concerns were shared by Mexican physicians. Indeed, Mexico was one of the leading centers of this trend in human genetics. Three leading players in this story were Mario Salazar Mallén, Adolfo Karl, and Rubén Lisker. Their trajectories and the international networks in human genetics that were established after WWII, paved the way for the establishment of medical and population genetics in Mexico. Salazar Mallén’s studies on the distribution and characterization of ABO blood groups in indigenous populations were the starting point while Karl’s studies on the distribution of abnormal hemoglobin in Mexican indigenous populations showed the relationships observed in other laboratories at the time. It was Lisker’s studies, however, that were instrumental in the development of population genetics in the context of national public policies for extending health care services to the Mexican population. In particular, he conducted studies on Mexican indigenous groups contributing to the knowledge of the biological diversity of human populations according to international trends that focused on the variability of human populations in terms of genetic frequencies. From the start, however, Lisker was as committed to the reconstruction of shared languages and practices as he was to building networks of collaboration in order to guarantee the necessary groundwork for establishing the study of the genetics of human populations in Mexico. This study also allows us to place Mexican science within a global context in which connected narratives describe the interplay between global trends and national contexts. PMID:27601615

  14. Evaluative Thinking in Practice: The National Asthma Control Program

    PubMed Central

    Fierro, Leslie A.; Codd, Heather; Gill, Sarah; Pham, Phung K.; Grandjean Targos, Piper T.; Wilce, Maureen

    2018-01-01

    Although evaluative thinking lies at the heart of what we do as evaluators and what we hope to promote in others through our efforts to build evaluation capacity, researchers have given limited attention to measuring this concept. We undertook a research study to better understand how instances of evaluative thinking may present in practice-based settings—specifically within four state asthma control programs funded by the Centers for Disease Control and Prevention’s National Asthma Control Program. Through content analyses of documents as well as interviews and a subsequent focus group with four state asthma control programs’ evaluators and program managers we identified and defined twenty-two indicators of evaluative thinking. Findings provide insights about what practitioners may wish to look for when they intend to build evaluative thinking and the types of data sources that may be more or less helpful in such efforts. PMID:29950803

  15. Evaluative Thinking in Practice: The National Asthma Control Program.

    PubMed

    Fierro, Leslie A; Codd, Heather; Gill, Sarah; Pham, Phung K; Grandjean Targos, Piper T; Wilce, Maureen

    2018-01-01

    Although evaluative thinking lies at the heart of what we do as evaluators and what we hope to promote in others through our efforts to build evaluation capacity, researchers have given limited attention to measuring this concept. We undertook a research study to better understand how instances of evaluative thinking may present in practice-based settings-specifically within four state asthma control programs funded by the Centers for Disease Control and Prevention's National Asthma Control Program. Through content analyses of documents as well as interviews and a subsequent focus group with four state asthma control programs' evaluators and program managers we identified and defined twenty-two indicators of evaluative thinking. Findings provide insights about what practitioners may wish to look for when they intend to build evaluative thinking and the types of data sources that may be more or less helpful in such efforts.

  16. Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates.

    PubMed

    Klinkenberg-Ramirez, Stephanie; Neri, Pamela M; Volk, Lynn A; Samaha, Sara J; Newmark, Lisa P; Pollard, Stephanie; Varugheese, Matthew; Baxter, Samantha; Aronson, Samuel J; Rehm, Heidi L; Bates, David W

    2016-01-01

    Partners HealthCare Personalized Medicine developed GeneInsight Clinic (GIC), a tool designed to communicate updated variant information from laboratory geneticists to treating clinicians through automated alerts, categorized by level of variant interpretation change. The study aimed to evaluate feedback from the initial users of the GIC, including the advantages and challenges to receiving this variant information and using this technology at the point of care. Healthcare professionals from two clinics that ordered genetic testing for cardiomyopathy and related disorders were invited to participate in one-hour semi-structured interviews and/ or a one-hour focus group. Using a Grounded Theory approach, transcript concepts were coded and organized into themes. Two genetic counselors and two physicians from two treatment clinics participated in individual interviews. Focus group participants included one genetic counselor and four physicians. Analysis resulted in 8 major themes related to structuring and communicating variant knowledge, GIC's impact on the clinic, and suggestions for improvements. The interview analysis identified longitudinal patient care, family data, and growth in genetic testing content as potential challenges to optimization of the GIC infrastructure. Participants agreed that GIC implementation increased efficiency and effectiveness of the clinic through increased access to genetic variant information at the point of care. Development of information technology (IT) infrastructure to aid in the organization and management of genetic variant knowledge will be critical as the genetic field moves towards whole exome and whole genome sequencing. Findings from this study could be applied to future development of IT support for genetic variant knowledge management that would serve to improve clinicians' ability to manage and care for patients.

  17. Direct-to-consumer genetic testing: an assessment of genetic counselors' knowledge and beliefs

    PubMed Central

    Hock, Kathryn T.; Christensen, Kurt D.; Yashar, Beverly M.; Roberts, J. Scott; Gollust, Sarah E.; Uhlmann, Wendy R.

    2013-01-01

    Purpose Direct-to-consumer genetic testing is a new means of obtaining genetic testing outside of a traditional clinical setting. This study assesses genetic counselors’ experience, knowledge, and beliefs regarding direct-to-consumer genetic testing for tests that would currently be offered in genetics clinics. Methods Members of the National Society of Genetic Counselors completed a web-administered survey in February 2008. Results Response rate was 36%; the final data analysis included 312 respondents. Eighty-three percent of respondents had two or fewer inquiries about direct-to-consumer genetic testing, and 14% had received requests for test interpretation or discussion. Respondents believed that genetic counselors have a professional obligation to be knowledgeable about direct-to-consumer genetic testing (55%) and interpret results (48%). Fifty-one percent of respondents thought genetic testing should be limited to a clinical setting; 56% agreed direct-to-consumer genetic testing is acceptable if genetic counseling is provided. More than 70% of respondents would definitely or possibly consider direct-to-consumer testing for patients who (1) have concerns about genetic discrimination, (2) want anonymous testing, or (3) have geographic constraints. Conclusions Results indicate that genetic counselors have limited patient experiences with direct-to-consumer genetic testing and are cautiously considering if and under what circumstances this approach should be used PMID:21233722

  18. A framework for evaluating national space activity

    NASA Astrophysics Data System (ADS)

    Wood, Danielle; Weigel, Annalisa

    2012-04-01

    Space technology and resources are used around the world to address societal challenges. Space provides valuable satellite services, unique scientific discoveries, surprising technology applications and new economic opportunities. Many developing countries formally recognize the advantages of space resources and pursue national level activity to harness them. There is limited data or documentation on the space activities of developing countries. Meanwhile, traditional approaches to summarize national space activity do not necessarily capture the types of activity that developing countries pursue in space. This is especially true if they do not have a formal national space program or office. Developing countries pursue national space activity through activities of many types—from national satellite programs to commercial use of satellite services to involvement with international space institutions. This research aims to understand and analyze these trends. This paper introduces two analytical frameworks for evaluating space activity at the national level. The frameworks are specifically designed to capture the activity of countries that have traditionally been less involved in space. They take a broad view of space related activity across multiple societal sectors and disciplines. The discussion explains the approach for using the frameworks as well as illustrative examples of how they can be applied as part of a research process. The first framework is called the Mission and Management Ladders. This framework considers specific space projects within countries and ranks them on "Ladders" that measure technical challenge and managerial autonomy. This first method is at a micro level of analysis. The second framework is called the Space Participation Metric (SPM). The SPM can be used to assign a Space Participation score to countries based on their involvement in various space related activities. This second method uses a macro level of analysis. The authors

  19. Translational research in cancer genetics: the road less traveled.

    PubMed

    Schully, S D; Benedicto, C B; Gillanders, E M; Wang, S S; Khoury, M J

    2011-01-01

    Gene discoveries in cancer have the potential for clinical and public health applications. To take advantage of such discoveries, a translational research agenda is needed to take discoveries from the bench to population health impact. To assess the current status of translational research in cancer genetics, we analyzed the extramural grant portfolio of the National Cancer Institute (NCI) from Fiscal Year 2007, as well as the cancer genetic research articles published in 2007. We classified both funded grants and publications as follows: T0 as discovery research; T1 as research to develop a candidate health application (e.g., test or therapy); T2 as research that evaluates a candidate application and develops evidence-based recommendations; T3 as research that assesses how to integrate an evidence-based recommendation into cancer care and prevention; and T4 as research that assesses health outcomes and population impact. We found that 1.8% of the grant portfolio and 0.6% of the published literature was T2 research or beyond. In addition to discovery research in cancer genetics, a translational research infrastructure is urgently needed to methodically evaluate and translate gene discoveries for cancer care and prevention. Copyright © 2009 S. Karger AG, Basel.

  20. Current practices of commercial cryobanks in screening prospective donors for genetic disease and reproductive risk.

    PubMed

    Conrad, E A; Fine, B; Hecht, B R; Pergament, E

    1996-01-01

    To determine how the screening practices of commercial semen banks vary from published guidelines, which factors influence cryobanks to exclude prospective semen donors for genetic reasons, and the current role of clinical geneticists/genetic counselors in evaluating prospective semen donors. The genetic screening of prospective donors by commercial semen banks was evaluated using written questionnaires completed by bank directors. Responses were analyzed to determine exclusion criteria, adherence to published guidelines, and contribution of genetic professionals. Semen banks were selected on the basis of membership in the American Association of Tissue Banks and commercial use of semen for artificial insemination by donor. Semen bank practices as reported by commercial semen bank directors. Of 37 eligible banks, 16 responded. All screen prospective donors by medical/family history and physical examination, 94% have upper age limits; 63% examine for minor physical defects; 56% routinely karyotype; 81% screen men of ethnic groups at risk for Tay Sachs disease, sickle cell disease and thalassemia; 19% screen all donors; 25% screen all donors for cystic fibrosis and 50% only screen if family history positive. Donor rejection was based on three criteria: mode of inheritance of familial disorder, severity of disease, and availability of carrier/confirmatory testing of donor genotype. Ten of 16 banks have no genetic professional on staff. Commercial semen banks primarily rely on family history as the major exclusion criterion in genetic screening of donors. Considerable differences exist among semen bank practices in accordance with guidelines published by national agencies. Genetic professionals have a minimal effect overall on evaluation of semen donors.

  1. Genetics Home Reference: hyperprolinemia

    MedlinePlus

    ... Hyperprolinemia type 1 Orphanet: Hyperprolinemia type 2 Screening, Technology and Research in Genetics Patient Support and Advocacy Resources (3 links) Children Living with Inherited Metabolic Diseases National Organization for ...

  2. A Complexity Approach to Evaluating National Scientific Systems through International Scientific Collaborations

    ERIC Educational Resources Information Center

    Zelnio, Ryan J.

    2013-01-01

    This dissertation seeks to contribute to a fuller understanding of how international scientific collaboration has affected national scientific systems. It does this by developing three methodological approaches grounded in social complexity theory and applying them to the evaluation of national scientific systems. The first methodology identifies…

  3. Evaluation of mature cow weight: genetic correlations with traits used in selection indices, correlated responses, and genetic trends in Nelore cattle.

    PubMed

    Boligon, A A; Carvalheiro, R; Albuquerque, L G

    2013-01-01

    Genetic correlations of selection indices and the traits considered in these indices with mature weight (MW) of Nelore females and correlated responses were estimated to determine whether current selection practices will result in an undesired correlated response in MW. Genetic trends for weaning and yearling indices and MW were also estimated. Data from 612,244 Nelore animals born between 1984 and 2010, belonging to different beef cattle evaluation programs from Brazil and Paraguay, were used. The following traits were studied: weaning conformation (WC), weaning precocity (WP), weaning muscling (WM), yearling conformation (YC), yearling precocity (YP), yearling muscling (YM), weaning and yearling indices, BW gain from birth to weaning (BWG), postweaning BW gain (PWG), scrotal circumference (SC), and MW. The variance and covariance components were estimated by Bayesian inference in a multitrait analysis, including all traits in the same analysis, using a nonlinear (threshold) animal model for visual scores and a linear animal model for the other traits. The mean direct heritabilities were 0.21±0.007 (WC), 0.22±0.007 (WP), 0.20±0.007 (WM), 0.43±0.005 (YC), 0.40±0.005 (YP), 0.40±0.005 (YM), 0.17±0.003 (BWG), 0.21±0.004 (PWG), 0.32±0.001 (SC), and 0.44±0.018 (MW). The genetic correlations between MW and weaning and yearling indices were positive and of medium magnitude (0.30±0.01 and 0.31±0.01, respectively). The genetic changes in weaning index, yearling index, and MW, expressed as units of genetic SD per year, were 0.26, 0.27, and 0.01, respectively. The genetic trend for MW was nonsignificant, suggesting no negative correlated response. The selection practice based on the use of sires with high final index giving preference for those better ranked for yearling precocity and muscling than for conformation generates only a minimal correlated response in MW.

  4. Genetic testing and services in Argentina.

    PubMed

    Penchaszadeh, Victor B

    2013-07-01

    Argentina is a middle-income country with a population of 40 million people. The structure of morbidity and mortality approaches that of more developed nations, with congenital and genetic disorders contributing significantly to ill health. The health delivery system is mixed, with public, social security, and private sectors which together spend close to 10 % of the GNP. Health subsectors are decentralized at provincial and municipality levels, where health planning and financing occurs, leading to fragmentation, inefficiency, and inequities. There are about 41 clinical genetic units in major medical centers in large cities, staffed by about 120 clinical geneticists, although only a few units are fully comprehensive genetic centers. Duplications, deficiencies, and poor regionalization and coordination affect health care delivery in general and in genetics. Funding for genetic services is limited due to poor understanding and lack of political will on the part of health authorities. Recently, however, there have been some interesting initiatives by national and provincial ministries of health to improve genetic services delivery by increasing coordination and regionalization. At the same time, training in genetics of health professionals is occurring, particularly in primary health care, and registries of congenital defects are being put in place. These developments are occurring in conjunction with a new awareness by health authorities of the importance of genetics in health care and research, a heightened activism of patient organizations demanding services for neglected conditions, as well as of women movements for the right to safe abortion.

  5. News Media Use, Informed Issue Evaluation, and South Koreans' Support for Genetically Modified Foods

    ERIC Educational Resources Information Center

    Kim, Sei-Hill; Kim, Jeong-Nam; Choi, Doo-Hun; Jun, Sangil

    2015-01-01

    Analyzing survey data on the issue of genetically modified foods in South Korea, this study explores the role of news media in facilitating informed issue evaluation. Respondents who read a newspaper more often were more knowledgeable about the issue. Also, heavy newspaper readers were more able than light readers to hold "consistent"…

  6. Genetics Home Reference: shingles

    MedlinePlus

    ... Aftercare MedlinePlus Encyclopedia: Shingles National Health Service (UK): Post-Herpetic Neuralgia Treatment General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and ...

  7. Invited review: Genetics and claw health: Opportunities to enhance claw health by genetic selection

    USDA-ARS?s Scientific Manuscript database

    Routine recording of claw health status at claw trimming of dairy cattle have been established in several countries, providing valuable data for genetic evaluation. In this review, issues related to genetic evaluation of claw health are examined, data sources, trait definitions and data validation p...

  8. Updates in the genetic evaluation of the child with global developmental delay or intellectual disability.

    PubMed

    Flore, Leigh Anne; Milunsky, Jeff M

    2012-12-01

    Global developmental delay (GDD) and intellectual disability (ID) occur in up to 3% of the general population and are even more commonly encountered in the setting of the pediatric neurology clinic. New advances in technology and in the understanding of genetic disorders have led to changes in the diagnostic approach to a child with unexplained GDD or ID. Chromosomal microarray has become a first-line test for evaluation of patients in this population and has both significantly increased diagnostic yield and introduced new challenges in the interpretation of copy number variants of uncertain significance. The G-banded karyotype is now frequently utilized as an adjunct to the microarray rather than as a first-line test in individuals with GDD or ID. Fragile X DNA testing continues to be recommended in the initial evaluation of the child with GDD or ID. The presence or absence of certain cardinal features (such as microcephaly or macrocephaly, seizures, autism, abnormal neurologic examination, and facial dysmorphism) can be utilized to direct single-gene molecular testing. The availability of next-generation and massively parallel sequencing technologies has enabled the use of genetic testing panels, in which dozens of genes associated with GDD or ID may be rapidly analyzed. Most recently, the clinical availability of whole-genome and whole-exome sequencing has opened new possibilities for the evaluation of individuals with GDD or ID who have previously eluded a genetic diagnosis. Consultation with a medical geneticist is recommended when progressing beyond first-tier analyses to most efficiently prioritize testing. Copyright © 2012 Elsevier Inc. All rights reserved.

  9. 15 CFR 921.40 - Ongoing oversight and evaluations of designated National Estuarine Research Reserves.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... designated National Estuarine Research Reserves. 921.40 Section 921.40 Commerce and Foreign Trade Regulations..., DEPARTMENT OF COMMERCE OCEAN AND COASTAL RESOURCE MANAGEMENT NATIONAL ESTUARINE RESEARCH RESERVE SYSTEM... and evaluations of designated National Estuarine Research Reserves. (a) The Sanctuaries and Reserve...

  10. How Might the Genetics Profession Better Utilize Social Media.

    PubMed

    Moore, Rebekah A; Matthews, Anne L; Cohen, Leslie

    2018-04-01

    Social media is a common method of communication in people's personal lives and professional settings. Gallagher et al. (2016) recommended, "it is time for genetic counselors to embrace social media as a means of communicating with patients or other healthcare professionals." Full members of the National Society of Genetic Counselors (NSGC) in the USA and Canada and genetics patients in Cleveland, OH, were surveyed to determine interest in using social media for patient-provider interactions. Both cohorts indicated that patient privacy and confidentiality would be a concern; however, survey results indicated patients would be interested in using social media to receive general information about genetic counseling and to learn about genetics services. Genetic counselors indicated privacy issues were not concerning if social media were to be used in this capacity. The majority of genetic counselor participants (88.7%) indicated they would welcome national guidelines for patient-provider social media use. Data from this study demonstrated that sharing what to expect at a genetic counseling appointment, defining genetic counseling, and announcing community outreach events are possible ways genetic counselors could utilize social media to communicate with and educate patients.

  11. Routine Discovery of Complex Genetic Models using Genetic Algorithms

    PubMed Central

    Moore, Jason H.; Hahn, Lance W.; Ritchie, Marylyn D.; Thornton, Tricia A.; White, Bill C.

    2010-01-01

    Simulation studies are useful in various disciplines for a number of reasons including the development and evaluation of new computational and statistical methods. This is particularly true in human genetics and genetic epidemiology where new analytical methods are needed for the detection and characterization of disease susceptibility genes whose effects are complex, nonlinear, and partially or solely dependent on the effects of other genes (i.e. epistasis or gene-gene interaction). Despite this need, the development of complex genetic models that can be used to simulate data is not always intuitive. In fact, only a few such models have been published. We have previously developed a genetic algorithm approach to discovering complex genetic models in which two single nucleotide polymorphisms (SNPs) influence disease risk solely through nonlinear interactions. In this paper, we extend this approach for the discovery of high-order epistasis models involving three to five SNPs. We demonstrate that the genetic algorithm is capable of routinely discovering interesting high-order epistasis models in which each SNP influences risk of disease only through interactions with the other SNPs in the model. This study opens the door for routine simulation of complex gene-gene interactions among SNPs for the development and evaluation of new statistical and computational approaches for identifying common, complex multifactorial disease susceptibility genes. PMID:20948983

  12. National 4-H Common Measures: Initial Evaluation from California 4-H

    ERIC Educational Resources Information Center

    Lewis, Kendra M.; Horrillo, Shannon J.; Widaman, Keith; Worker, Steven M.; Trzesniewski, Kali

    2015-01-01

    Evaluation is a key component to learning about the effectiveness of a program. This article provides descriptive statistics of the newly developed National 4-H Common Measures (science, healthy living, citizenship, and youth development) based on data from 721 California 4-H youth. The measures were evaluated for their reliability and validity of…

  13. Evaluating the sub-national fidelity of national Initiatives in decentralized health systems: Integrated Primary Health Care Governance in Nigeria.

    PubMed

    Eboreime, Ejemai Amaize; Abimbola, Seye; Obi, Felix Abrahams; Ebirim, Obinna; Olubajo, Olalekan; Eyles, John; Nxumalo, Nonhlanhla Lynette; Mambulu, Faith Nankasa

    2017-03-21

    Policy making, translation and implementation in politically and administratively decentralized systems can be challenging. Beyond the mere sub-national acceptance of national initiatives, adherence to policy implementation processes is often poor, particularly in low and middle-income countries. In this study, we explore the implementation fidelity of integrated PHC governance policy in Nigeria's decentralized governance system and its implications on closing implementation gaps with respect to other top-down health policies and initiatives. Having engaged policy makers, we identified 9 core components of the policy (Governance, Legislation, Minimum Service Package, Repositioning, Systems Development, Operational Guidelines, Human Resources, Funding Structure, and Office Establishment). We evaluated the level and pattern of implementation at state level as compared to the national guidelines using a scorecard approach. Contrary to national government's assessment of level of compliance, we found that sub-national governments exercised significant discretion with respect to the implementation of core components of the policy. Whereas 35 and 32% of states fully met national criteria for the structural domains of "Office Establishment" and Legislation" respectively, no state was fully compliant to "Human Resource Management" and "Funding" requirements, which are more indicative of functionality. The pattern of implementation suggests that, rather than implementing to improve outcomes, state governments may be more interested in executing low hanging fruits in order to access national incentives. Our study highlights the importance of evaluating implementation fidelity in providing evidence of implementation gaps towards improving policy execution, particularly in decentralized health systems. This approach will help national policy makers identify more effective ways of supporting lower tiers of governance towards improvement of health systems and outcomes.

  14. SANDIA NATIONAL LABORATORIES IN SITU ELECTROKINETIC EXTRACTION TECHNOLOGY; INNOVATIVE TECHNOLOGY EVALUATION REPORT

    EPA Science Inventory

    As a part of the Superfund Innovative Technology Evaluation (SITE) Program, the U.S. Environmental Protection Agency evaluated the In-Situ Electrokinetic Extraction (ISEE) system at Sandia National Laboratories, Albuquerque, New Mexico.

    The SITE demonstration results show ...

  15. The cost effectiveness of genetic testing for CYP2C19 variants to guide thienopyridine treatment in patients with acute coronary syndromes: a New Zealand evaluation.

    PubMed

    Panattoni, Laura; Brown, Paul M; Te Ao, Braden; Webster, Mark; Gladding, Patrick

    2012-11-01

    A recent clinical trial has demonstrated that patients with acute coronary syndromes (ACS) and the reduced function allele CYP2C19*2 (*2 allele), who are treated with thienopyridines, have an increased risk of adverse cardiac events with clopidogrel, but not with prasugrel. The frequency of the *2 allele varies by ethnicity and the Maoris, Asians and Pacific Islanders of New Zealand have a relatively high incidence. Our objective was to evaluate, from a New Zealand health system perspective, the cost effectiveness of treating all ACS patients with generic clopidogrel compared with prasugrel, and also compared with the genetically guided strategy that *2 allele carriers receive prasugrel and non-carriers receive clopidogrel. A decision-tree model consisting of five health states (myocardial infarction, stroke, bleeding, stent thrombosis and cardiovascular death) was developed. Clinical outcome data (two TRITON-TIMI 38 genetic sub-studies) comparing clopidogrel and prasugrel for both *2 allele carriers and non-carriers were combined with the prevalence of the heterozygosity for the *2 allele in New Zealand Europeans (15%), Maoris (24%), Asians (29%) and Pacific Islanders (45%) to determine the predicted adverse event rate for the New Zealand population. National hospital diagnosis-related group (DRG) discharge codes were used to determine alternative adverse event rates, along with the costs of hospitalizations during the 15 months after patients presented with an ACS. The primary outcome measure was the incremental cost per QALY (calculated using literature-reported weights). Monte Carlo simulations and alternative scenario analysis based on both clinical trial and national hospital incidence were used. Additional analysis considered the overall TRITON-TIMI 38 rates. Costs (in New Zealand dollars [$NZ], year 2009 values) and benefits were discounted at 3% per annum. Actual hospital-based adverse event rates were higher than those reported in the TRITON-TIMI 38

  16. Minnesota urban partnership agreement national evaluation : exogenous factors test plan.

    DOT National Transportation Integrated Search

    2009-11-17

    This report presents the exogenous factors test plan for the national evaluation of the Minnesota Urban Partnership Agreement (UPA) under the United States Department of Transportation (U.S. DOT) UPA Program. The Minnesota UPA projects focus on reduc...

  17. Seattle/Lake Washington corridor urban partnership agreement : national evaluation report.

    DOT National Transportation Integrated Search

    2014-12-01

    This document presents the final report on the national evaluation of the Seattle/Lake Washington Corridor (LWC) Urban Partnership Agreement (UPA) under the United States Department of Transportation (U.S. DOT) UPA Program. The Seattle UPA projects f...

  18. Role of the "National Reference Centre for Genetically Modified Organisms (GMO) detection" in the official control of food and feed.

    PubMed

    Ciabatti, I; Marchesi, U; Froiio, A; Paternò, A; Ruggeri, M; Amaddeo, D

    2005-08-01

    The National Reference Centre for Genetically Modified Organisms (GMO) detection was established in 2002 within the Istituto Zooprofilattico Sperimentale Lazio e Toscana, with the aim of providing scientific and technical support to the National Health System and to the Ministry of Health within the scope of the regulation of GMO use in food and feed.The recently adopted EU legislation on GMOs (Regulation CE no. 1829/2003 and no. 1830/2003) introduced more rigorous procedures for the authorisation, labelling and analytical control of food and feed consisting, containing or derived from GMOs. The National Reference Centre, besides its institutional tasks as one of the laboratories of the Italian National Health System, collects and analyses data and results of the national official control of GMOs; carries out scientific research aimed at developing, improving, validating and harmonising detection and quantification methods, in cooperation with other scientific institutions, the Community Reference Laboratory and within the European Network of GMOs laboratories (ENGL); collaborates with the Ministry of Health in the definition of control programmes and promotes educational and training initiatives. Objectives defined for 2004-2006, activities in progress and goals already achieved are presented.

  19. A Guide to Selected National Genetic Voluntary Organizations.

    ERIC Educational Resources Information Center

    National Center for Education in Maternal and Child Health, Washington, DC.

    The directory lists mutual support groups concerned with the medical and psychosocial impacts of genetic disorders and birth defects on affected individuals and families. Each organization included is dedicated to the ongoing emotional, practical, and financial needs of these populations. Entries are categorized by disorder, including: general,…

  20. A Guide to Selected National Genetic Voluntary Organizations.

    ERIC Educational Resources Information Center

    National Center for Education in Maternal and Child Health, Washington, DC.

    The directory lists approximately 120 mutual support groups concerned with the medical and psychological impacts of genetic disorders and birth defects on individuals and their families. The groups are dedicated to serving the ongoing emotional, practical, and financial needs of these populations. The entries are arranged alphabetically and…

  1. Biomarkers For Breast Cancer Based On Genetic Instability | NCI Technology Transfer Center | TTC

    Cancer.gov

    It is difficult to establish a prognosis for breast cancer because the clinical course and survival times of patients with the disease vary greatly.  The National Cancer Institute's Genetics Branch is seeking statements of capability or interest from parties interested in in-licensing or collaborative research to co-develop, evaluate, or commercialize prognostic tests for breast cancer based on a 12-gene expression signature.

  2. Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors

    PubMed Central

    Goldman, Jill S.; Hahn, Susan E.; Catania, Jennifer Williamson; LaRusse-Eckert, Susan; Butson, Melissa Barber; Rumbaugh, Malia; Strecker, Michelle N.; Roberts, J. Scott; Burke, Wylie; Mayeux, Richard; Bird, Thomas

    2012-01-01

    Alzheimer disease is the most common cause of dementia. It occurs worldwide and affects all ethnic groups. The incidence of Alzheimer disease is increasing due, in part, to increased life expectancy and the aging baby boomer generation. The average lifetime risk of developing Alzheimer disease is 10–12%. This risk at least doubles with the presence of a first-degree relative with the disorder. Despite its limited utility, patients express concern over their risk and, in some instances, request testing. Furthermore, research has demonstrated that testing individuals for apoli-poprotein E can be valuable and safe in certain contexts. However, because of the complicated genetic nature of the disorder, few clinicians are prepared to address the genetic risks of Alzheimer disease with their patients. Given the increased awareness in family history thanks to family history campaigns, the increasing incidence of Alzheimer disease, and the availability of direct to consumer testing, patient requests for information is increasing. This practice guideline provides clinicians with a framework for assessing their patients’ genetic risk for Alzheimer disease, identifying which individuals may benefit from genetic testing, and providing the key elements of genetic counseling for AD. PMID:21577118

  3. Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.

    PubMed

    Goldman, Jill S; Hahn, Susan E; Catania, Jennifer Williamson; LaRusse-Eckert, Susan; Butson, Melissa Barber; Rumbaugh, Malia; Strecker, Michelle N; Roberts, J Scott; Burke, Wylie; Mayeux, Richard; Bird, Thomas

    2011-06-01

    Alzheimer disease is the most common cause of dementia. It occurs worldwide and affects all ethnic groups. The incidence of Alzheimer disease is increasing due, in part, to increased life expectancy and the aging baby boomer generation. The average lifetime risk of developing Alzheimer disease is 10-12%. This risk at least doubles with the presence of a first-degree relative with the disorder. Despite its limited utility, patients express concern over their risk and, in some instances, request testing. Furthermore, research has demonstrated that testing individuals for apolipoprotein E can be valuable and safe in certain contexts. However, because of the complicated genetic nature of the disorder, few clinicians are prepared to address the genetic risks of Alzheimer disease with their patients. Given the increased awareness in family history thanks to family history campaigns, the increasing incidence of Alzheimer disease, and the availability of direct to consumer testing, patient requests for information is increasing. This practice guideline provides clinicians with a framework for assessing their patients' genetic risk for Alzheimer disease, identifying which individuals may benefit from genetic testing, and providing the key elements of genetic counseling for AD.

  4. 75 FR 9607 - National Protection and Programs Directorate; Guidance Document Request and Evaluation

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-03-03

    ... techniques or other forms of information technology, e.g., permitting electronic submissions of responses... DEPARTMENT OF HOMELAND SECURITY [Docket No. DHS-2010-0010] National Protection and Programs Directorate; Guidance Document Request and Evaluation AGENCY: National Protection and Programs Directorate...

  5. Variation and inheritance pattern in cone and seed characteristics of Scots pine (Pinus sylvestris L.) for evaluation of genetic diversity.

    PubMed

    Sevik, Hakan; Topaçoğlu, Osman

    2015-09-01

    Scots pine (Pinus sylvestris L.) is one of the most common and important forest tree species in Turkey due to usefulness of its wood to many commercial uses. This species is classified as one of the economically important tree species for Turkish Forestry in the "National Tree Breeding and Seed Production Program". The objective of the present study was to investigate variation and inheritance pattern in cone and seed characteristics of Scots pine and to evaluate variation in cone and seed characters within and among clones and grafts. The results showed that maximum CV among the clones was found for SWe (21.95), FS (16.99) and CWe (16.88). According to the results of SAS, variation between the clones is averaged at 19.2% and variation within the clones is averaged at 24.4 %. Variation between the clones ranged from 3.6% (SW) to 34.5% (TC) and variation within the clones ranged from 12.3% (SW) to 38.1% (WL). For CW, AL, AW, WW and TC, genetic variation among clones was higher than within clones. When the results of study like compared with results obtained from natural populations, it was seen that genetic variability in seed orchard which was subjected to study was quite low. This case may have dangerous results for the future of forests.

  6. Weatherization Works: Final Report of the National Weatherization Evaluation

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Brown, M.A.

    2001-02-01

    In 1990, the US Department of Energy (DOE) sponsored a comprehensive evaluation of its Weatherization Assistance Program, the nation's largest residential energy conservation program. Oak Ridge National Laboratory (ORNL) managed the five-part study. This document summarizes the findings of the evaluation. Its conclusions are based mainly on data from the 1989 program year. The evaluation concludes that the Program meets the objectives of its enabling legislation and fulfills its mission statement. Specifically, it saves energy, lowers fuel bills, and improves the health and safety of dwellings occupied by low-income people. In addition, the Program achieves its mission in a cost-effectivemore » manner based on each of three perspectives employed by the evaluators. Finally, the evaluation estimates that the investments made in 1989 will, over a 20-year lifetime, save the equivalent of 12 million barrels of oil, roughly the amount of oil added to the Strategic Petroleum Reserve in each of the past several years. The Program's mission is to reduce the heating and cooling costs for low-income families--particularly the elderly, persons with disabilities, and children by improving the energy efficiency of their homes and ensuring their health and safety. Substantial progress has been made, but the job is far from over. The Department of Health and Human Services (HHS) reports that the average low-income family spends 12 percent of its income on residential energy, compared to only 3% for the average-income family. Homes where low-income families live also have a greater need for energy efficiency improvements, but less money to pay for them.« less

  7. Genetic Counseling and Evaluation for BRCA1/2 Testing

    MedlinePlus

    ... counseling. If you do not have a personal history of breast or ovarian cancer BRCA genetic counseling, ... the USPSTF recommendation. If you have a personal history of ovarian cancer Genetic counseling and testing is ...

  8. National Remodelling Team: Evaluation Study (Year 2). Final Report

    ERIC Educational Resources Information Center

    Easton, Claire; Wilson, Rebekah; Sharp, Caroline

    2005-01-01

    This report sets out to provide the National Remodelling Team (NRT) with comprehensive details on stakeholders' views about the second year of the remodelling programme. This report is divided into nine chapters: (1) Introduction; (2) outlines the aims of the evaluation and the methodology used; (3) describes the findings from the survey of local…

  9. Impact of computer-assisted data collection, evaluation and management on the cancer genetic counselor's time providing patient care.

    PubMed

    Cohen, Stephanie A; McIlvried, Dawn E

    2011-06-01

    Cancer genetic counseling sessions traditionally encompass collecting medical and family history information, evaluating that information for the likelihood of a genetic predisposition for a hereditary cancer syndrome, conveying that information to the patient, offering genetic testing when appropriate, obtaining consent and subsequently documenting the encounter with a clinic note and pedigree. Software programs exist to collect family and medical history information electronically, intending to improve efficiency and simplicity of collecting, managing and storing this data. This study compares the genetic counselor's time spent in cancer genetic counseling tasks in a traditional model and one using computer-assisted data collection, which is then used to generate a pedigree, risk assessment and consult note. Genetic counselor time spent collecting family and medical history and providing face-to-face counseling for a new patient session decreased from an average of 85-69 min when using the computer-assisted data collection. However, there was no statistically significant change in overall genetic counselor time on all aspects of the genetic counseling process, due to an increased amount of time spent generating an electronic pedigree and consult note. Improvements in the computer program's technical design would potentially minimize data manipulation. Certain aspects of this program, such as electronic collection of family history and risk assessment, appear effective in improving cancer genetic counseling efficiency while others, such as generating an electronic pedigree and consult note, do not.

  10. Genetic programming approach to evaluate complexity of texture images

    NASA Astrophysics Data System (ADS)

    Ciocca, Gianluigi; Corchs, Silvia; Gasparini, Francesca

    2016-11-01

    We adopt genetic programming (GP) to define a measure that can predict complexity perception of texture images. We perform psychophysical experiments on three different datasets to collect data on the perceived complexity. The subjective data are used for training, validation, and test of the proposed measure. These data are also used to evaluate several possible candidate measures of texture complexity related to both low level and high level image features. We select four of them (namely roughness, number of regions, chroma variance, and memorability) to be combined in a GP framework. This approach allows a nonlinear combination of the measures and could give hints on how the related image features interact in complexity perception. The proposed complexity measure M exhibits Pearson correlation coefficients of 0.890 on the training set, 0.728 on the validation set, and 0.724 on the test set. M outperforms each of all the single measures considered. From the statistical analysis of different GP candidate solutions, we found that the roughness measure evaluated on the gray level image is the most dominant one, followed by the memorability, the number of regions, and finally the chroma variance.

  11. Race, Ethnicity and Ancestry in Unrelated Transplant Matching for the National Marrow Donor Program: A Comparison of Multiple Forms of Self-Identification with Genetics

    PubMed Central

    Hollenbach, Jill A.; Saperstein, Aliya; Albrecht, Mark; Vierra-Green, Cynthia; Parham, Peter; Norman, Paul J.; Maiers, Martin

    2015-01-01

    We conducted a nationwide study comparing self-identification to genetic ancestry classifications in a large cohort (n = 1752) from the National Marrow Donor Program. We sought to determine how various measures of self-identification intersect with genetic ancestry, with the aim of improving matching algorithms for unrelated bone marrow transplant. Multiple dimensions of self-identification, including race/ethnicity and geographic ancestry were compared to classifications based on ancestry informative markers (AIMs), and the human leukocyte antigen (HLA) genes, which are required for transplant matching. Nearly 20% of responses were inconsistent between reporting race/ethnicity versus geographic ancestry. Despite strong concordance between AIMs and HLA, no measure of self-identification shows complete correspondence with genetic ancestry. In certain cases geographic ancestry reporting matches genetic ancestry not reflected in race/ethnicity identification, but in other cases geographic ancestries show little correspondence to genetic measures, with important differences by gender. However, when respondents assign ancestry to grandparents, we observe sub-groups of individuals with well- defined genetic ancestries, including important differences in HLA frequencies, with implications for transplant matching. While we advocate for tailored questioning to improve accuracy of ancestry ascertainment, collection of donor grandparents’ information will improve the chances of finding matches for many patients, particularly for mixed-ancestry individuals. PMID:26287376

  12. International cooperation and networking in genetic health care provision: issues arising from the genetic services plan for the Emilia-Romagna region, Italy.

    PubMed

    Calzolari, E; Baroncini, A

    2005-01-01

    The aims of this report are to describe the genetic plan for Emilia-Romagna, a region in Italy, and to contribute to the international exchange of information on developing and applying policy frameworks to provide high-quality and comprehensive genetic health care in the publicly funded health systems. At the present time there is no national policy for genetic medicine in Italy, and only two regions, Emilia-Romagna and Liguria, have formally agreed to a strategic plan for health care in genetics. The current provision of genetic services in Emilia-Romagna is described focusing on the intra- and inter-organizational linkages to ensure a comprehensive system of coordinated activities. Strengths and implementation areas are highlighted. Points that must be solved within the regional or national context are the definition of the level of assistance required in genetic medicine, the formal professional recognition of the genetic counselor and the adjustment of the billing mechanisms to the complexities of clinical genetic services. Issues that need to be addressed at a wider level include full assessment of genetic tests before their introduction into clinical practice, networking to provide tests for the rarest genetic diseases, consensus on fundamental terminology and clinical and administrative data sets to promote a cohesive framework for the flow of information throughout the health care systems with respect to genetics. Copyright 2005 S. Karger AG, Basel.

  13. Evaluation of Genetic Diversity and Development of a Core Collection of Wild Rice (Oryza rufipogon Griff.) Populations in China

    PubMed Central

    Bai, Lin; Lu, Zhenzhen; Chen, Yuhong; Jiang, Lan; Diao, Mengyang; Liu, Xiangdong; Lu, Yonggen

    2015-01-01

    Common wild rice (Oryza rufipogon Griff.), the progenitor of Asian cultivated rice (O. sativa L.), is endangered due to habitat loss. The objectives of this research were to evaluate the genetic diversity of wild rice species in isolated populations and to develop a core collection of representative genotypes for ex situ conservation. We collected 885 wild rice accessions from eight geographically distinct regions and transplanted these accessions in a protected conservation garden over a period of almost two decades. We evaluated these accessions for 13 morphological or phenological traits and genotyped them for 36 DNA markers evenly distributed on the 12 chromosomes. The coefficient of variation of quantitative traits was 0.56 and ranged from 0.37 to 1.06. SSR markers detected 206 different alleles with an average of 6 alleles per locus. The mean polymorphism information content (PIC) was 0.64 in all populations, indicating that the marker loci have a high level of polymorphism and genetic diversity in all populations. Phylogenetic analyses based on morphological and molecular data revealed remarkable differences in the genetic diversity of common wild rice populations. The results showed that the Zengcheng, Gaozhou, and Suixi populations possess higher levels of genetic diversity, whereas the Huilai and Boluo populations have lower levels of genetic diversity than do the other populations. Based on their genetic distance, 130 accessions were selected as a core collection that retained over 90% of the alleles at the 36 marker loci. This genetically diverse core collection will be a useful resource for genomic studies of rice and for initiatives aimed at developing rice with improved agronomic traits. PMID:26720755

  14. Evaluation of Genetic Diversity and Development of a Core Collection of Wild Rice (Oryza rufipogon Griff.) Populations in China.

    PubMed

    Liu, Wen; Shahid, Muhammad Qasim; Bai, Lin; Lu, Zhenzhen; Chen, Yuhong; Jiang, Lan; Diao, Mengyang; Liu, Xiangdong; Lu, Yonggen

    2015-01-01

    Common wild rice (Oryza rufipogon Griff.), the progenitor of Asian cultivated rice (O. sativa L.), is endangered due to habitat loss. The objectives of this research were to evaluate the genetic diversity of wild rice species in isolated populations and to develop a core collection of representative genotypes for ex situ conservation. We collected 885 wild rice accessions from eight geographically distinct regions and transplanted these accessions in a protected conservation garden over a period of almost two decades. We evaluated these accessions for 13 morphological or phenological traits and genotyped them for 36 DNA markers evenly distributed on the 12 chromosomes. The coefficient of variation of quantitative traits was 0.56 and ranged from 0.37 to 1.06. SSR markers detected 206 different alleles with an average of 6 alleles per locus. The mean polymorphism information content (PIC) was 0.64 in all populations, indicating that the marker loci have a high level of polymorphism and genetic diversity in all populations. Phylogenetic analyses based on morphological and molecular data revealed remarkable differences in the genetic diversity of common wild rice populations. The results showed that the Zengcheng, Gaozhou, and Suixi populations possess higher levels of genetic diversity, whereas the Huilai and Boluo populations have lower levels of genetic diversity than do the other populations. Based on their genetic distance, 130 accessions were selected as a core collection that retained over 90% of the alleles at the 36 marker loci. This genetically diverse core collection will be a useful resource for genomic studies of rice and for initiatives aimed at developing rice with improved agronomic traits.

  15. 75 FR 9608 - National Protection and Programs Directorate; Technical Assistance Request and Evaluation

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-03-03

    ... Directorate; Technical Assistance Request and Evaluation AGENCY: National Protection and Programs Directorate... assistance requests from each State and territory. OEC will use the Technical Assistance Evaluation Form to... electronically. Evaluation forms may be submitted electronically or in paper form. The Office of Management and...

  16. Comprehension and Data-Sharing Behavior of Direct-To-Consumer Genetic Test Customers.

    PubMed

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

    2016-01-01

    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.

  17. Re-evaluating causal modeling with mantel tests in landscape genetics

    Treesearch

    Samuel A. Cushman; Tzeidle N. Wasserman; Erin L. Landguth; Andrew J. Shirk

    2013-01-01

    The predominant analytical approach to associate landscape patterns with gene flow processes is based on the association of cost distances with genetic distances between individuals. Mantel and partial Mantel tests have been the dominant statistical tools used to correlate cost distances and genetic distances in landscape genetics. However, the inherent high...

  18. Impact of subsidies on cancer genetic testing uptake in Singapore.

    PubMed

    Li, Shao-Tzu; Yuen, Jeanette; Zhou, Ke; Binte Ishak, Nur Diana; Chen, Yanni; Met-Domestici, Marie; Chan, Sock Hoai; Tan, Yee Pin; Allen, John Carson; Lim, Soon Thye; Soo, Khee Chee; Ngeow, Joanne

    2017-04-01

    Previous reports cite high costs of clinical cancer genetic testing as main barriers to patient's willingness to test. We report findings of a pilot study that evaluates how different subsidy schemes impact genetic testing uptake and total cost of cancer management. We included all patients who attended the Cancer Genetics Service at the National Cancer Centre Singapore (January 2014-May 2016). Two subsidy schemes, the blanket scheme (100% subsidy to all eligible patients), and the varied scheme (patients received 50%-100% subsidy dependent on financial status) were compared. We estimated total spending on cancer management from government's perspective using a decision model. 445 patients were included. Contrasting against the blanket scheme, the varied scheme observed a higher attendance of patients (34 vs 8 patients per month), of which a higher proportion underwent genetic testing (5% vs 38%), while lowering subsidy spending per person (S$1098 vs S$1161). The varied scheme may potentially save cost by reducing unnecessary cancer surveillance when first-degree relatives uptake rate is above 36%. Provision of subsidy leads to a considerable increase in genetic testing uptake rate. From the government's perspective, subsidising genetic testing may potentially reduce total costs on cancer management. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  19. Genetics Home Reference: citrullinemia

    MedlinePlus

    ... Type II MalaCards: citrullinemia, classic Orphanet: Citrullinemia Screening, Technology, and Research in Genetics Virginia Department of Health (PDF) Patient Support and Advocacy Resources (5 links) Children Living with Inherited Metabolic Diseases (CLIMB) (UK) National ...

  20. Evaluating the implementation of a national clinical programme for diabetes to standardise and improve services: a realist evaluation protocol.

    PubMed

    McHugh, S; Tracey, M L; Riordan, F; O'Neill, K; Mays, N; Kearney, P M

    2016-07-28

    Over the last three decades in response to the growing burden of diabetes, countries worldwide have developed national and regional multifaceted programmes to improve the monitoring and management of diabetes and to enhance the coordination of care within and across settings. In Ireland in 2010, against a backdrop of limited dedicated strategic planning and engrained variation in the type and level of diabetes care, a national programme was established to standardise and improve care for people with diabetes in Ireland, known as the National Diabetes Programme (NDP). The NDP comprises a range of organisational and service delivery changes to support evidence-based practices and policies. This realist evaluation protocol sets out the approach that will be used to identify and explain which aspects of the programme are working, for whom and in what circumstances to produce the outcomes intended. This mixed method realist evaluation will develop theories about the relationship between the context, mechanisms and outcomes of the diabetes programme. In stage 1, to identify the official programme theories, documentary analysis and qualitative interviews were conducted with national stakeholders involved in the design, development and management of the programme. In stage 2, as part of a multiple case study design with one case per administrative region in the health system, qualitative interviews are being conducted with frontline staff and service users to explore their responses to, and reasoning about, the programme's resources (mechanisms). Finally, administrative data will be used to examine intermediate implementation outcomes such as service uptake, acceptability, and fidelity to models of care. This evaluation is using the principles of realist evaluation to examine the implementation of a national programme to standardise and improve services for people with diabetes in Ireland. The concurrence of implementation and evaluation has enabled us to produce formative

  1. Standards for the Reporting of Genetic Counseling Interventions in Research and Other Studies (GCIRS): an NSGC Task Force Report.

    PubMed

    Hooker, Gillian W; Babu, D; Myers, M F; Zierhut, H; McAllister, M

    2017-06-01

    As the demand for evidence to support the value of genetic counseling increases, it is critical that reporting of genetic counseling interventions in research and other types of studies (e.g. process improvement or service evaluation studies) adopt greater rigor. As in other areas of healthcare, the appraisal, synthesis, and translation of research findings into genetic counseling practice are likely to be improved if clear specifications of genetic counseling interventions are reported when studies involving genetic counseling are published. To help improve reporting practices, the National Society of Genetic Counselors (NSGC) convened a task force in 2015 to develop consensus standards for the reporting of genetic counseling interventions. Following review by the NSGC Board of Directors, the NSGC Practice Guidelines Committee and the editorial board of the Journal of Genetic Counseling, 23 items across 8 domains were proposed as standards for the reporting of genetic counseling interventions in the published literature (GCIRS: Genetic Counseling Intervention Reporting Standards). The authors recommend adoption of these standards by authors and journals when reporting studies involving genetic counseling interventions.

  2. A proposal for clinical genetics (genetics in medicine) education for medical technologists and other health professionals in Japan.

    PubMed

    Kohzaki, Hidetsugu

    2014-01-01

    Since the completion of the Human Genome Project, technology has developed markedly in fields such as medical genetics and genetic counseling in the medical arena. In particular, this technology has advanced the discovery of and ways of understanding various genes responsible for genetic diseases, and genetic polymorphisms thought to be associated with disease. Some have been implicated as factors in common lifestyle diseases and have increased the significance of genetic testing. In Japan, doctors and other health professionals, such as nurse and medical technologists have been engaged in genetic testing and genetic disease treatment. Chromosomal and gene aberrations were detected mainly by medical technologists. However, due to the nature of medical technologists who have to provide various clinical tests, such as blood test, pre-medical technology students are required to cover tremendous knowledge of different academic fields to pass the national exam. Therefore, the time allowed for such students to study chromosomal and gene analysis is quite limited. Moreover, they are forced to enter the medical setting without receiving sufficient training. Among them, only few medical technologists specialize in chromosomal and gene analysis. However, with the advancement of clinical genetics and development of chromosomal and gene analysis, conducting clinical practice is becoming more and more difficult for medical technologists who just passed the national exam. Also, doctors and other health professionals have not been able to keep up with service demands either. This paper attempts to address knowledge and skills gaps (especially clinical genetics, English, and ICT literacy) of medical technologists and we propose educational methods to prepare medical genetics professionals in Japan to meet these gaps.

  3. Short communication: Estimates of genetic parameters for dairy fertility in New Zealand.

    PubMed

    Amer, P R; Stachowicz, K; Jenkins, G M; Meier, S

    2016-10-01

    evaluation. The superiority of direct GL genetic component over the maternal GL component for predicting fertility was demonstrated. Future work planned in this area includes the implementation and testing of this new model on national fertility data. Copyright © 2016 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  4. Genetic Testing in Clinical Settings.

    PubMed

    Franceschini, Nora; Frick, Amber; Kopp, Jeffrey B

    2018-04-11

    Genetic testing is used for screening, diagnosis, and prognosis of diseases consistent with a genetic cause and to guide drug therapy to improve drug efficacy and avoid adverse effects (pharmacogenomics). This In Practice review aims to inform about DNA-related genetic test availability, interpretation, and recommended clinical actions based on results using evidence from clinical guidelines, when available. We discuss challenges that limit the widespread use of genetic information in the clinical care setting, including a small number of actionable genetic variants with strong evidence of clinical validity and utility, and the need for improving the health literacy of health care providers and the public, including for direct-to-consumer tests. Ethical, legal, and social issues and incidental findings also need to be addressed. Because our understanding of genetic factors associated with disease and drug response is rapidly increasing and new genetic tests are being developed that could be adopted by clinicians in the short term, we also provide extensive resources for information and education on genetic testing. Copyright © 2018 National Kidney Foundation, Inc. All rights reserved.

  5. Telegenetics use in presymptomatic genetic counselling: patient evaluations on satisfaction and quality of care

    PubMed Central

    Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V; van Langen, Irene M

    2016-01-01

    In recent years, online counselling has been introduced in clinical genetics to increase patients' access to care and to reduce time and cost for both patients and professionals. Most telegenetics reports so far evaluated online oncogenetic counselling at remote health centres in regions with large travelling distances, generally showing positive patient outcomes. We think online counselling – including the use of supportive tools that are also available during in-person counselling – of presymptomatic patients in their homes can also be feasible and valuable for patients in relatively small regions. We performed a single-centre pilot study of online genetic counselling for 57 patients who were presymptomatic cardiogenetic (n=17), presymptomatic oncogenetic (n=34) and prenatal (3 couples). One-third of presymptomatic patients we approached consented to online counselling. Patient evaluations of practical aspects, satisfaction and psychological outcomes were assessed and compared with a matched control group. Patients managed to fulfil the preparations, were significantly more satisfied with their counsellor and counselling session than controls and were satisfied with the online counselling more than they expected to be beforehand. Psychological outcomes (decreased anxiety and increased control) did not differ with control patients. Technical problems occurred in almost half of online sessions. Nonetheless, online counselling in patients' homes proved to be feasible and was appreciated by a substantial part of presymptomatic patients at our genetics centre in the Netherlands. Based on these outcomes, we conclude online counselling can be a valuable addition to existing counselling options in regular patient care. PMID:26173963

  6. Evaluation of the innate immune response of Angus heifers with genetic marker variation for intramuscular fat deposition following a lipopolysaccharide challenge

    USDA-ARS?s Scientific Manuscript database

    This study evaluated the effect of genetic selection for markers related to marbling deposition in Angus heifers on the immune response following a lipopolysaccharide (LPS) challenge. Fall-born heifers (n = 19; ~7 months of age, 274 +/- 24 kg) with genetic variation for marbling were utilized inclu...

  7. Evaluation of 19,460 Wheat Accessions Conserved in the Indian National Genebank to Identify New Sources of Resistance to Rust and Spot Blotch Diseases.

    PubMed

    Kumar, Sundeep; Archak, Sunil; Tyagi, R K; Kumar, Jagdish; Vk, Vikas; Jacob, Sherry R; Srinivasan, Kalyani; Radhamani, J; Parimalan, R; Sivaswamy, M; Tyagi, Sandhya; Yadav, Mamata; Kumari, Jyotisna; Deepali; Sharma, Sandeep; Bhagat, Indoo; Meeta, Madhu; Bains, N S; Chowdhury, A K; Saha, B C; Bhattacharya, P M; Kumari, Jyoti; Singh, M C; Gangwar, O P; Prasad, P; Bharadwaj, S C; Gogoi, Robin; Sharma, J B; Gm, Sandeep Kumar; Saharan, M S; Bag, Manas; Roy, Anirban; Prasad, T V; Sharma, R K; Dutta, M; Sharma, Indu; Bansal, K C

    2016-01-01

    A comprehensive germplasm evaluation study of wheat accessions conserved in the Indian National Genebank was conducted to identify sources of rust and spot blotch resistance. Genebank accessions comprising three species of wheat-Triticum aestivum, T. durum and T. dicoccum were screened sequentially at multiple disease hotspots, during the 2011-14 crop seasons, carrying only resistant accessions to the next step of evaluation. Wheat accessions which were found to be resistant in the field were then assayed for seedling resistance and profiled using molecular markers. In the primary evaluation, 19,460 accessions were screened at Wellington (Tamil Nadu), a hotspot for wheat rusts. We identified 4925 accessions to be resistant and these were further evaluated at Gurdaspur (Punjab), a hotspot for stripe rust and at Cooch Behar (West Bengal), a hotspot for spot blotch. The second round evaluation identified 498 accessions potentially resistant to multiple rusts and 868 accessions potentially resistant to spot blotch. Evaluation of rust resistant accessions for seedling resistance against seven virulent pathotypes of three rusts under artificial epiphytotic conditions identified 137 accessions potentially resistant to multiple rusts. Molecular analysis to identify different combinations of genetic loci imparting resistance to leaf rust, stem rust, stripe rust and spot blotch using linked molecular markers, identified 45 wheat accessions containing known resistance genes against all three rusts as well as a QTL for spot blotch resistance. The resistant germplasm accessions, particularly against stripe rust, identified in this study can be excellent potential candidates to be employed for breeding resistance into the background of high yielding wheat cultivars through conventional or molecular breeding approaches, and are expected to contribute toward food security at national and global levels.

  8. Evaluation of 19,460 Wheat Accessions Conserved in the Indian National Genebank to Identify New Sources of Resistance to Rust and Spot Blotch Diseases

    PubMed Central

    Jacob, Sherry R.; Srinivasan, Kalyani; Radhamani, J.; Parimalan, R.; Sivaswamy, M.; Tyagi, Sandhya; Yadav, Mamata; Kumari, Jyotisna; Deepali; Sharma, Sandeep; Bhagat, Indoo; Meeta, Madhu; Bains, N. S.; Chowdhury, A. K.; Saha, B. C.; Bhattacharya, P. M.; Kumari, Jyoti; Singh, M. C.; Gangwar, O. P.; Prasad, P.; Bharadwaj, S. C.; Gogoi, Robin; Sharma, J. B.; GM, Sandeep Kumar; Saharan, M. S.; Bag, Manas; Roy, Anirban; Prasad, T. V.; Sharma, R. K.; Dutta, M.; Sharma, Indu; Bansal, K. C.

    2016-01-01

    A comprehensive germplasm evaluation study of wheat accessions conserved in the Indian National Genebank was conducted to identify sources of rust and spot blotch resistance. Genebank accessions comprising three species of wheat–Triticum aestivum, T. durum and T. dicoccum were screened sequentially at multiple disease hotspots, during the 2011–14 crop seasons, carrying only resistant accessions to the next step of evaluation. Wheat accessions which were found to be resistant in the field were then assayed for seedling resistance and profiled using molecular markers. In the primary evaluation, 19,460 accessions were screened at Wellington (Tamil Nadu), a hotspot for wheat rusts. We identified 4925 accessions to be resistant and these were further evaluated at Gurdaspur (Punjab), a hotspot for stripe rust and at Cooch Behar (West Bengal), a hotspot for spot blotch. The second round evaluation identified 498 accessions potentially resistant to multiple rusts and 868 accessions potentially resistant to spot blotch. Evaluation of rust resistant accessions for seedling resistance against seven virulent pathotypes of three rusts under artificial epiphytotic conditions identified 137 accessions potentially resistant to multiple rusts. Molecular analysis to identify different combinations of genetic loci imparting resistance to leaf rust, stem rust, stripe rust and spot blotch using linked molecular markers, identified 45 wheat accessions containing known resistance genes against all three rusts as well as a QTL for spot blotch resistance. The resistant germplasm accessions, particularly against stripe rust, identified in this study can be excellent potential candidates to be employed for breeding resistance into the background of high yielding wheat cultivars through conventional or molecular breeding approaches, and are expected to contribute toward food security at national and global levels. PMID:27942031

  9. The Congenital Heart Disease Genetic Network Study

    PubMed Central

    2013-01-01

    Congenital heart defects (CHD) are the leading cause of infant mortality among birth defects, and later morbidities and premature mortality remain problematic. Although genetic factors contribute significantly to cause CHD, specific genetic lesions are unknown for most patients. The National Heart, Lung, and Blood Institute-funded Pediatric Cardiac Genomics Consortium established the Congenital Heart Disease Genetic Network Study to investigate relationships between genetic factors, clinical features, and outcomes in CHD. The Pediatric Cardiac Genomics Consortium comprises 6 main and 4 satellite sites at which subjects are recruited, and medical data and biospecimens (blood, saliva, cardiovascular tissue) are collected. Core infrastructure includes an administrative/data-coordinating center, biorepository, data hub, and core laboratories (genotyping, whole-exome sequencing, candidate gene evaluation, and variant confirmation). Eligibility includes all forms of CHD. Annual follow-up is obtained for probands <1-year-old. Parents are enrolled whenever available. Enrollment from December 2010 to June 2012 comprised 3772 probands. One or both parents were enrolled for 72% of probands. Proband median age is 5.5 years. The one third enrolled at age <1 year are contacted annually for follow-up information. The distribution of CHD favors more complex lesions. Approximately, 11% of probands have a genetic diagnosis. Adequate DNA is available from 97% and 91% of blood and saliva samples, respectively. Genomic analyses of probands with heterotaxy, atrial septal defects, conotruncal, and left ventricular outflow tract obstructive lesions are underway. The scientific community’s use of Pediatric Cardiac Genomics Consortium resources is welcome. PMID:23410879

  10. Evaluating the Influence of the Microsatellite Marker Set on the Genetic Structure Inferred in Pyrus communis L.

    PubMed Central

    Urrestarazu, Jorge; Royo, José B.; Santesteban, Luis G.; Miranda, Carlos

    2015-01-01

    Fingerprinting information can be used to elucidate in a robust manner the genetic structure of germplasm collections, allowing a more rational and fine assessment of genetic resources. Bayesian model-based approaches are nowadays majorly preferred to infer genetic structure, but it is still largely unresolved how marker sets should be built in order to obtain a robust inference. The objective was to evaluate, in Pyrus germplasm collections, the influence of the SSR marker set size on the genetic structure inferred, also evaluating the influence of the criterion used to select those markers. Inferences were performed considering an increasing number of SSR markers that ranged from just two up to 25, incorporated one at a time into the analysis. The influence of the number of SSR markers used was evaluated comparing the number of populations and the strength of the signal detected, and also the similarity of the genotype assignments to populations between analyses. In order to test if those results were influenced by the criterion used to select the SSRs, several choosing scenarios based on the discrimination power or the fixation index values of the SSRs were tested. Our results indicate that population structure could be inferred accurately once a certain SSR number threshold was reached, which depended on the underlying structure within the genotypes, but the method used to select the markers included on each set appeared not to be very relevant. The minimum number of SSRs required to provide robust structure inferences and adequate measurements of the differentiation, even when low differentiation levels exist within populations, was proved similar to that of the complete list of recommended markers for fingerprinting. When a SSR set size similar to the minimum marker sets recommended for fingerprinting it is used, only major divisions or moderate (F ST>0.05) differentiation of the germplasm are detected. PMID:26382618

  11. Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis.

    PubMed

    1999-07-26

    To provide health care providers, patients, and the general public with a responsible assessment of the optimal practices for genetic testing for cystic fibrosis (CF). A nonfederal, nonadvocate, 14-member panel representing the fields of genetics, obstetrics, internal medicine, nursing, social work, epidemiology, pediatrics, psychiatry, genetic counseling, bioethics, health economics, health services research, law, and the public. In addition, 21 experts from these same fields presented data to the panel and a conference audience of 500. The literature was searched through MEDLINE, and an extensive bibliography of references was provided to the panel and the conference audience. Experts prepared abstracts with relevant citations from the literature. Scientific evidence was given precedence over clinical anecdotal experience. The panel, answering predefined questions, developed its conclusions based on the scientific evidence presented in open forum and the scientific literature. The panel composed a draft statement that was read in its entirety and circulated to the experts and the audience for comment. Thereafter, the panel resolved conflicting recommendations and released a revised statement at the end of the conference. The panel finalized the revisions within a few weeks after the conference. Genetic testing for CF should be offered to adults with a positive family history of CF, to partners of people with CF, to couples currently planning a pregnancy, and to couples seeking prenatal care. The panel does not recommend offering CF genetic testing to the general population or newborns. The panel advocates active research to develop improved treatments for people with CF and continued investigation into the understanding of the pathophysiology of the disease. Comprehensive educational programs targeted to health care professionals and the public should be developed using input from people living with CF and their families and from people from diverse racial and

  12. Evaluation of hypophosphatemia: lessons from patients with genetic disorders

    PubMed Central

    Bacchetta, Justine; Salusky, Isidro B

    2014-01-01

    Phosphate is a key element for several physiological pathways, such as skeletal development, bone mineralization, membrane composition, nucleotide structure, maintenance of plasma pH, and cellular signaling. The kidneys have a key role in phosphate homeostasis with three hormones playing important roles in renal phosphate handling (i.e., parathyroid hormone (PTH), fibroblast growth factor 23 (FGF23), and 1-25 dihydroxy-vitamin D). Independently of the genetic diseases affecting the FGF23 pathway (such as hypophosphatemic rickets), hypophosphatemia is a frequent condition in daily practice, and untreated severe hypophosphatemia can induce hemolysis, rhabdomyolysis, respiratory failure, cardiac dysfunction and neurological impairment, thus requiring a rapid correction to avoid severe complications. The aims of this case report are to summarize the etiologies and the biological evaluation of hypophosphatemia in adults, and to provide an overview of our current understanding of phosphate metabolism. PMID:22075221

  13. Evaluation of National Institute for Learning Development and Discovery Educational Therapy Program

    ERIC Educational Resources Information Center

    Frimpong, Prince Christopher

    2014-01-01

    In Maryland, some Christian schools have enrolled students with learning disabilities (LDs) but do not have any interventional programs at the school to help them succeed academically. The purpose of this qualitative program evaluation was to evaluate the National Institute for Learning Development (NILD) and Discovery Therapy Educational Program…

  14. Compatibility of pedigree-based and marker-based relationship matrices for single-step genetic evaluation.

    PubMed

    Christensen, Ole F

    2012-12-03

    Single-step methods provide a coherent and conceptually simple approach to incorporate genomic information into genetic evaluations. An issue with single-step methods is compatibility between the marker-based relationship matrix for genotyped animals and the pedigree-based relationship matrix. Therefore, it is necessary to adjust the marker-based relationship matrix to the pedigree-based relationship matrix. Moreover, with data from routine evaluations, this adjustment should in principle be based on both observed marker genotypes and observed phenotypes, but until now this has been overlooked. In this paper, I propose a new method to address this issue by 1) adjusting the pedigree-based relationship matrix to be compatible with the marker-based relationship matrix instead of the reverse and 2) extending the single-step genetic evaluation using a joint likelihood of observed phenotypes and observed marker genotypes. The performance of this method is then evaluated using two simulated datasets. The method derived here is a single-step method in which the marker-based relationship matrix is constructed assuming all allele frequencies equal to 0.5 and the pedigree-based relationship matrix is constructed using the unusual assumption that animals in the base population are related and inbred with a relationship coefficient γ and an inbreeding coefficient γ / 2. Taken together, this γ parameter and a parameter that scales the marker-based relationship matrix can handle the issue of compatibility between marker-based and pedigree-based relationship matrices. The full log-likelihood function used for parameter inference contains two terms. The first term is the REML-log-likelihood for the phenotypes conditional on the observed marker genotypes, whereas the second term is the log-likelihood for the observed marker genotypes. Analyses of the two simulated datasets with this new method showed that 1) the parameters involved in adjusting marker-based and pedigree

  15. Genetic conservation and paddlefish propagation

    USGS Publications Warehouse

    Sloss, Brian L.; Klumb, Robert A.; Heist, Edward J.

    2009-01-01

    The conservation of genetic diversity of our natural resources is overwhelmingly one of the central foci of 21st century management practices. Three recommendations related to the conservation of paddlefish Polyodon spathula genetic diversity are to (1) identify genetic diversity at both nuclear and mitochondrial DNA loci using a suggested list of 20 sampling locations, (2) use genetic diversity estimates to develop genetic management units, and (3) identify broodstock sources to minimize effects of supplemental stocking on the genetic integrity of native paddlefish populations. We review previous genetic work on paddlefish and described key principles and concepts associated with maintaining genetic diversity within and among paddlefish populations and also present a genetic case study of current paddlefish propagation at the U.S. Fish and Wildlife Service Gavins Point National Fish Hatchery. This study confirmed that three potential sources of broodfish were genetically indistinguishable at the loci examined, allowing the management agencies cooperating on this program flexibility in sampling gametes. This study also showed significant bias in the hatchery occurred in terms of male reproductive contribution, which resulted in a shift in the genetic diversity of progeny compared to the broodfish. This shift was shown to result from differential male contributions, partially attributed to the mode of egg fertilization. Genetic insights enable implementation of a paddlefish propagation program within an adaptive management strategy that conserves inherent genetic diversity while achieving demographic goals.

  16. Genetic structure from the oldest Jatropha germplasm bank of Brazil and contribution for the genetic improvement.

    PubMed

    Santos, Dalilhia N Dos; Ferreira, Juliano L; Setotaw, Tesfahun A; Cançado, Geraldo M A; Pasqual, Moacir; Londe, Luciana C N; Saturnino, Heloisa M; Vendrame, Wagner A

    2016-01-01

    Jatropha is a potential oilseed crop, which requires mitigating factors such as the low genetic variability of the species. The solution runs through the research of Brazilian germplasm. Attention should be given to the germplasm of jatropha the north of Minas Gerais, because this is the oldest national collection and because this region may be a regions of jatropha diversity due to selection pressure arising from environmental adversities. Therefore, the objective of this study was to investigate the genetic diversity of 48 accessions of collection from Empresa de Pesquisa Agropecuária de Minas Gerais (EPAMIG), using SSR and ISSR markers. The results showed low genetic diversity, but some individuals stood out as J. mollissima (48), J. podagrica (47), Mexican accessions (42, 43, 44 and 45) and some national accessions (28, 29, 41 and 46). Therefore, aiming to increase the genetic variability and improve the effectiveness of jatropha breeding programs, it is suggested to explore such as parental accessions to generate commercial hybrids. This fact implies the possibility to support future production of jatropha, since this culture may be an important source of income, especially for small farmers living in semiarid regions of Brazil.

  17. National Evaluation Standards for Australia and New Zealand: Many Questions but Few Answers

    ERIC Educational Resources Information Center

    Fraser, Doug

    2004-01-01

    Australia and New Zealand stand out as something of an anomaly in the international trend toward developing common standards for evaluation. The national professional association that covers evaluation in both countries, the Australasian Evaluation Society (AES), was one of the earliest and most proactive in developing a comprehensive code of…

  18. Evaluation of National Tsutsugamushi Disease Surveillance--Japan, 2000.

    PubMed

    Matsui, Tamano; Kramer, Michael H; Mendlein, James M; Osaka, Ken; Ohyama, Takaaki; Takahashi, Hiroshi; Ono, Tomomichi; Okabe, Nobuhiko

    2002-12-01

    In Japan, Tsutsugamushi disease, which is caused by Orientia tsutsugamushi, is re-emerging with newly recognized strains and is now endemic in all prefectures except Hokkaido and Okinawa. We analyzed recent surveillance data to describe the epidemiology of Tsutsugamushi disease and to evaluate the newly implemented national surveillance system according to the CDC guidelines for evaluating surveillance systems. In 2000, 756 cases of Tsutsugamushi disease were reported from 37 of 47 prefectures; two of these cases were fatal. The median age of case-patients was 64 years (range: 2 - 94 years); 414 (54.8%) were male. In northern Japan, most cases were diagnosed in the months of May through July and in the months of October through December, and in southern Japan, cases were diagnosed almost year-round with a peak from October through December and in January. Reporting and transfer of surveillance information from the prefecture to the national level was effective and timely, but the completeness and quality of case reporting could still be improved. The current system for Tsutsugamushi disease surveillance is useful for describing epidemiologic patterns by time, prefecture, and demographic characteristics. However, collection of additional information on suspected place of transmission, activity performed at the place of transmission, or the case-patient's profession would likely make the system more valuable for outbreak detection and for better defining populations at risk.

  19. Genetic risk scores and family history as predictors of schizophrenia in Nordic registers.

    PubMed

    Lu, Y; Pouget, J G; Andreassen, O A; Djurovic, S; Esko, T; Hultman, C M; Metspalu, A; Milani, L; Werge, T; Sullivan, P F

    2018-05-01

    Family history is a long-standing and readily obtainable risk factor for schizophrenia (SCZ). Low-cost genotyping technologies have enabled large genetic studies of SCZ, and the results suggest the utility of genetic risk scores (GRS, direct assessments of inherited common variant risk). Few studies have evaluated family history and GRS simultaneously to ask whether one can explain away the other. We studied 5959 SCZ cases and 8717 controls from four Nordic countries. All subjects had family history data from national registers and genome-wide genotypes that were processed through the quality control procedures used by the Psychiatric Genomics Consortium. Using external training data, GRS were estimated for SCZ, bipolar disorder (BIP), major depression, autism, educational attainment, and body mass index. Multivariable modeling was used to estimate effect sizes. Using harmonized genomic and national register data from Denmark, Estonia, Norway, and Sweden, we confirmed that family history of SCZ and GRS for SCZ and BIP were risk factors for SCZ. In a joint model, the effects of GRS for SCZ and BIP were essentially unchanged, and the effect of family history was attenuated but remained significant. The predictive capacity of a model including GRS and family history neared the minimum for clinical utility. Combining national register data with measured genetic risk factors represents an important investigative approach for psychotic disorders. Our findings suggest the potential clinical utility of combining GRS and family history for early prediction and diagnostic improvements.

  20. Genetics Experts Unite to I.D. Unknown Katrina Victims

    MedlinePlus

    ... News From NIH Genetics Experts Unite to I.D. Unknown Katrina Victims Past Issues / Summer 2006 Table ... and genetics," says team member Stephen Sherry, Ph.D., of NLM's National Center for Biotechnology Information, "is ...

  1. Peer Assessment of Evaluation Products: Practice in the Department of National Defence.

    ERIC Educational Resources Information Center

    Lewis, Ira; Browell, J. Edward

    1996-01-01

    Evaluation reports produced in the Canadian Department of National Defense have been subject to peer assessment since 1972, but the evaluation literature contains little evidence to support the practice. Peer assessments are used to ensure that standards have been met, to correct errors, and to gain insight from reviewers. (Author/SLD)

  2. 75 FR 62543 - Proposed Collection; Comment Request; National Evaluation of the Clinical and Translational...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-12

    ... of the Clinical and Translational Science Awards (CTSA) Initiative SUMMARY: In compliance with the... comment on proposed data collection projects, the National Center for Research Resources (NCRR), the... National Evaluation of the Clinical and [[Page 62544

  3. Gender, genetic risk, and criminal behavior.

    PubMed

    Vaske, Jamie; Wright, John Paul; Boisvert, Danielle; Beaver, Kevin Michael

    2011-02-28

    The threshold hypothesis asserts that the prevalence of offending is lower among females because females have a higher threshold for risk than males. As a result, females who do offend should exhibit greater concentrations of genetic and environmental risk than male offenders. In light of these statements, the current study examines the role of genetic factors in the etiology of female offending using data from the National Longitudinal Study of Adolescent Health. The results reveal that the genetic risk threshold is higher for females than for males. However, contrary to the threshold hypothesis, female offenders exhibit fewer genetic risks than male offenders. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  4. Evaluating alternate models to estimate genetic parameters of calving traits in United Kingdom Holstein-Friesian dairy cattle.

    PubMed

    Eaglen, Sophie A E; Coffey, Mike P; Woolliams, John A; Wall, Eileen

    2012-07-28

    The focus in dairy cattle breeding is gradually shifting from production to functional traits and genetic parameters of calving traits are estimated more frequently. However, across countries, various statistical models are used to estimate these parameters. This study evaluates different models for calving ease and stillbirth in United Kingdom Holstein-Friesian cattle. Data from first and later parity records were used. Genetic parameters for calving ease, stillbirth and gestation length were estimated using the restricted maximum likelihood method, considering different models i.e. sire (-maternal grandsire), animal, univariate and bivariate models. Gestation length was fitted as a correlated indicator trait and, for all three traits, genetic correlations between first and later parities were estimated. Potential bias in estimates was avoided by acknowledging a possible environmental direct-maternal covariance. The total heritable variance was estimated for each trait to discuss its theoretical importance and practical value. Prediction error variances and accuracies were calculated to compare the models. On average, direct and maternal heritabilities for calving traits were low, except for direct gestation length. Calving ease in first parity had a significant and negative direct-maternal genetic correlation. Gestation length was maternally correlated to stillbirth in first parity and directly correlated to calving ease in later parities. Multi-trait models had a slightly greater predictive ability than univariate models, especially for the lowly heritable traits. The computation time needed for sire (-maternal grandsire) models was much smaller than for animal models with only small differences in accuracy. The sire (-maternal grandsire) model was robust when additional genetic components were estimated, while the equivalent animal model had difficulties reaching convergence. For the evaluation of calving traits, multi-trait models show a slight advantage over

  5. An Evaluation of Factors Associated With Pathogenic PRSS1, SPINK1, CTFR, and/or CTRC Genetic Variants in Patients With Idiopathic Pancreatitis.

    PubMed

    Jalaly, Niloofar Y; Moran, Robert A; Fargahi, Farshid; Khashab, Mouen A; Kamal, Ayesha; Lennon, Anne Marie; Walsh, Christi; Makary, Martin A; Whitcomb, David C; Yadav, Dhiraj; Cebotaru, Liudmila; Singh, Vikesh K

    2017-08-01

    We evaluated factors associated with pathogenic genetic variants in patients with idiopathic pancreatitis. Genetic testing (PRSS1, CFTR, SPINK1, and CTRC) was performed in all eligible patients with idiopathic pancreatitis between 2010 to 2015. Patients were classified into the following groups based on a review of medical records: (1) acute recurrent idiopathic pancreatitis (ARIP) with or without underlying chronic pancreatitis; (2) idiopathic chronic pancreatitis (ICP) without a history of ARP; (3) an unexplained first episode of acute pancreatitis (AP)<35 years of age; and (4) family history of pancreatitis. Logistic regression analysis was used to determine the factors associated with pathogenic genetic variants. Among 197 ARIP and/or ICP patients evaluated from 2010 to 2015, 134 underwent genetic testing. A total of 88 pathogenic genetic variants were found in 64 (47.8%) patients. Pathogenic genetic variants were identified in 58, 63, and 27% of patients with ARIP, an unexplained first episode of AP <35 years of age, and ICP without ARP, respectively. ARIP (OR: 18.12; 95% CI: 2.16-151.87; P=0.008) and an unexplained first episode of AP<35 years of age (OR: 2.46; 95% CI: 1.18-5.15; P=0.017), but not ICP, were independently associated with pathogenic genetic variants in the adjusted analysis. Pathogenic genetic variants are most likely to be identified in patients with ARIP and an unexplained first episode of AP<35 years of age. Genetic testing in these patient populations may delineate an etiology and prevent unnecessary diagnostic testing and procedures.

  6. Library Educators' Awareness and Evaluation of National Audiovisual Center Materials.

    ERIC Educational Resources Information Center

    Palmer, Joseph W.

    1980-01-01

    Describes a survey of 18 library schools conducted to determine if faculty are familiar with audiovisual materials available from the National Audiovisual Center, and how these materials are rated in quality. Results indicate that there is a need for more descriptive and evaluative information to reach library educators. (BK)

  7. The heterogeneous HLA genetic makeup of the Swiss population.

    PubMed

    Buhler, Stéphane; Nunes, José Manuel; Nicoloso, Grazia; Tiercy, Jean-Marie; Sanchez-Mazas, Alicia

    2012-01-01

    This study aims at investigating the HLA molecular variation across Switzerland in order to determine possible regional differences, which would be highly relevant to several purposes: optimizing donor recruitment strategies in hematopoietic stem cell transplantation (HSCT), providing reliable reference data in HLA and disease association studies, and understanding the population genetic background(s) of this culturally heterogeneous country. HLA molecular data of more than 20,000 HSCT donors from 9-13 recruitment centers of the whole country were analyzed. Allele and haplotype frequencies were estimated by using new computer tools adapted to the heterogeneity and ambiguity of the data. Non-parametric and resampling statistical tests were performed to assess Hardy-Weinberg equilibrium, selective neutrality and linkage disequilibrium among different loci, both in each recruitment center and in the whole national registry. Genetic variation was explored through genetic distance and hierarchical analysis of variance taking into account both geographic and linguistic subdivisions in Switzerland. The results indicate a heterogeneous genetic makeup of the Swiss population: first, allele frequencies estimated on the whole national registry strongly deviate from Hardy-Weinberg equilibrium, by contrast with the results obtained for individual centers; second, a pronounced differentiation is observed for Ticino, Graubünden, and, to a lesser extent, Wallis, suggesting that the Alps represent(ed) a barrier to gene flow; finally, although cultural (linguistic) boundaries do not represent a main genetic differentiation factor in Switzerland, the genetic relatedness between population from south-eastern Switzerland and Italy agrees with historical and linguistic data. Overall, this study justifies the maintenance of a decentralized donor recruitment structure in Switzerland allowing increasing the genetic diversity of the national--and hence global--donor registry. It also

  8. Comparison of the Mortality Probability Admission Model III, National Quality Forum, and Acute Physiology and Chronic Health Evaluation IV hospital mortality models: implications for national benchmarking*.

    PubMed

    Kramer, Andrew A; Higgins, Thomas L; Zimmerman, Jack E

    2014-03-01

    To examine the accuracy of the original Mortality Probability Admission Model III, ICU Outcomes Model/National Quality Forum modification of Mortality Probability Admission Model III, and Acute Physiology and Chronic Health Evaluation IVa models for comparing observed and risk-adjusted hospital mortality predictions. Retrospective paired analyses of day 1 hospital mortality predictions using three prognostic models. Fifty-five ICUs at 38 U.S. hospitals from January 2008 to December 2012. Among 174,001 intensive care admissions, 109,926 met model inclusion criteria and 55,304 had data for mortality prediction using all three models. None. We compared patient exclusions and the discrimination, calibration, and accuracy for each model. Acute Physiology and Chronic Health Evaluation IVa excluded 10.7% of all patients, ICU Outcomes Model/National Quality Forum 20.1%, and Mortality Probability Admission Model III 24.1%. Discrimination of Acute Physiology and Chronic Health Evaluation IVa was superior with area under receiver operating curve (0.88) compared with Mortality Probability Admission Model III (0.81) and ICU Outcomes Model/National Quality Forum (0.80). Acute Physiology and Chronic Health Evaluation IVa was better calibrated (lowest Hosmer-Lemeshow statistic). The accuracy of Acute Physiology and Chronic Health Evaluation IVa was superior (adjusted Brier score = 31.0%) to that for Mortality Probability Admission Model III (16.1%) and ICU Outcomes Model/National Quality Forum (17.8%). Compared with observed mortality, Acute Physiology and Chronic Health Evaluation IVa overpredicted mortality by 1.5% and Mortality Probability Admission Model III by 3.1%; ICU Outcomes Model/National Quality Forum underpredicted mortality by 1.2%. Calibration curves showed that Acute Physiology and Chronic Health Evaluation performed well over the entire risk range, unlike the Mortality Probability Admission Model and ICU Outcomes Model/National Quality Forum models. Acute

  9. Clinical review of genetic epileptic encephalopathies

    PubMed Central

    Noh, Grace J.; Asher, Y. Jane Tavyev; Graham, John M.

    2012-01-01

    Seizures are a frequently encountered finding in patients seen for clinical genetics evaluations. The differential diagnosis for the cause of seizures is quite diverse and complex, and more than half of all epilepsies have been attributed to a genetic cause. Given the complexity of such evaluations, we highlight the more common causes of genetic epileptic encephalopathies and emphasize the usefulness of recent technological advances. The purpose of this review is to serve as a practical guide for clinical geneticists in the evaluation and counseling of patients with genetic epileptic encephalopathies. Common syndromes will be discussed, in addition to specific seizure phenotypes, many of which are refractory to anti-epileptic agents. Divided by etiology, we overview the more common causes of infantile epileptic encephalopathies, channelopathies, syndromic, metabolic, and chromosomal entities. For each condition, we will outline the diagnostic evaluation and discuss effective treatment strategies that should be considered. PMID:22342633

  10. Rice diversity panels available through the genetic stocks oryza collection

    USDA-ARS?s Scientific Manuscript database

    The Genetic Stocks Oryza (GSOR) Collection was established in 2004 at the USDA-ARS, Dale Bumpers National Rice Research Center (DBNRRC) located in Stuttgart, AR. The mission of GSOR is to provide unique genetic resources to the rice research community for genetic and genomics related research. GSOR ...

  11. Minnesota urban partnership agreement national evaluation : transit system data test plan.

    DOT National Transportation Integrated Search

    2009-11-17

    This report presents the test plan for collecting and analyzing transit system data for the Minnesota Urban Partnership Agreement (UPA) National Evaluation under the United States Department of Transportation (U.S. DOT) UPA Program. The Minnesota UPA...

  12. Cloning in America: the Genetics and Public Policy Center surveys the nation.

    PubMed

    Burton, Kelli Whitlock

    2005-01-01

    The Genetics and Public Policy Center, a part of the Phoebe R. Berman Bioethics Institute at Johns Hopkins University, compiled the survey information found in the following article for a 2005 publication entitled "Cloning: A Public Policy Report." This article is a summation of the Genetics and Public Policy Center's findings on the public opinion of cloning, stem cell research, and the legal environment which regulates these fields. The original report can be found in it entirety at www.dnapolicy.org. The author of this article is a freelance writer who compiled the report on behalf of The Genetics and Public Policy Center.

  13. Innovations in human genetics education. Incorporation of genetics into a problem-based medical school curriculum.

    PubMed Central

    Swinford, A E; McKeag, D B

    1990-01-01

    There has been recent interest in the development of problem-based human genetics curricula in U.S. medical schools. The College of Human Medicine at Michigan State University has had a problem-based curriculum since 1974. The vertical integration of genetics within the problem-based curriculum, called "Track II," has recently been revised. On first inspection, the curriculum appeared to lack a significant genetics component; however, on further analysis it was found that many genetics concepts were covered in the biochemistry, microbiology, pathology, and clinical science components. Both basic science concepts and clinical applications of genetics are covered in the curriculum by providing appropriate references for basic concepts and including inherited conditions within the differential diagnosis in the cases studied. Evaluations consist of a multiple-choice content exam and a modified essay exam based on a clinical case, allowing evaluation of both basic concepts and problem-solving ability. This curriculum prepares students to use genetics in a clinical context in their future careers. PMID:2220816

  14. Exploiting the information revolution: call for independent evaluation of the latest English national experiment.

    PubMed

    Scott, Philip

    2015-02-19

    The English National Health Service (NHS) has a long history of national experiments with information technology; some successful, others less so. The NHS England Five Year Forward View aspires to 'Exploit the information revolution' through the transformational work of the National Information Board (NIB). NIB has published a 'Framework for Action' that promotes citizen empowerment, information availability, transparency, public trust, innovation, informatics skills and societal value. The framework sets out many laudable and common sense ambitions, but is light on evidence to support its aspirations, or plans for its evaluation. Considerable resource was invested in evaluation studies in the later stages of the National Programme for IT in England, but the analyses do not seem to have been included. Most of the cited evidence is from an unpublished report by management consultants rather than independent peer-reviewed work. National experiments of this importance should be evidence based and properly evaluated so that each iteration of 'information revolution' produces an evidence base to inform subsequent generations of care provision models and technology innovation. Evaluation should be planned from the very start rather than added in as an afterthought. Like any good business plan there should be defined critical success factors for health and social care, and a declaration of how they might be measured. Unintended consequences should be qualitatively explored. Evaluation should also consider critical-interpretive social perspectives to understand the human factors in technology deployment and should seek a theoretically informed insight into the mechanisms of change. The NHS Five Year Forward View and the NIB framework set out challenging ambitions based on transformative use of information technology and collaborative partnerships with commissioners and providers. The framework stands up very well against the Hayes principles, but the learning opportunities

  15. Sodium-sulfur technology evaluation at Argonne National Laboratory

    NASA Astrophysics Data System (ADS)

    Mulcahey, T. P.; Tummillo, A. F.; Hogrefe, R. L.; Christianson, C. C.; Biwer, R.; Webster, C. E.; Lee, J.; Miller, J. F.; Marr, J. J.; Smaga, J. A.

    The Analysis and Diagnostics Laboratory (ADL) at Argonne National Laboratory has completed evaluation of the Ford Aerospace and Communication Corp. (FACC) technology in the form of four load-levelling (LL) cells, five electric vehicle (EV) cells, and a sub-battery of 89 series connected EV cells. The ADL also has initiated evaluation of the Chloride Silent Power Limited (CSPL) sodium-sulfur (PB) battery technology in the form of 8 individual cells. The evaluation of the FACC-LL cells consisted of an abbreviated performance characterization followed by life-cycle tests on two individual cells and life-cycle tests only on the two other individual cells. The evaluation indicated that the technology was improving, but long-term (life) reliability was not yet adequate for utility applications. The cells exhibited individual cycle lives ranging from 659 to over 1366 cycles, which is equivalent to 2 1/2 to 5 1/2 years in utility use. It was also found that full-cell capacity could only be maintained by applying a special charge regime, regularly or periodically, that consisted of a constant-current followed by a constant-voltage.

  16. Genetics for the Human Race

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Myles Axton; Francis Collins; Charles Rotimi

    2004-11-01

    This supplement has its origins on May 15, 2003, when the National Human Genome Center at Howard University held a small but important workshop in Washington DC. The workshop, Human Genome Variation and 'Race', and this special issue of Nature Genetics were proposed by scientists at Howard University and financially supported by the Genome Programs of the US Department of Energy, through its Office of Science; the Irving Harris Foundation; the National Institutes of Health, through the National Human Genome Research Institute; and Howard University. As summarized by Francis Collins, director of the National Human Genome Research Institute, the workshopmore » focused on several key questions: ''What does the current body of scientific information say about the connections among race, ethnicity, genetics and health? What remains unknown? What additional research is needed? How can this information be applied to benefit human health? How might this information be applied in nonmedical settings? How can we adopt policies that will achieve beneficial societal outcomes?'' This supplement, supported by the Department of Energy through a grant to Howard University, contains articles based on the presentations at this workshop.« less

  17. Evaluation of genetic diversity of Panicum turgidum Forssk from Saudi Arabia.

    PubMed

    Assaeed, Abdulaziz M; Al-Faifi, Sulieman A; Migdadi, Hussein M; El-Bana, Magdy I; Al Qarawi, Abdulaziz A; Khan, Mohammad Altaf

    2018-01-01

    The genetic diversity of 177 accessions of Panicum turgidum Forssk, representing ten populations collected from four geographical regions in Saudi Arabia, was analyzed using amplified fragment length polymorphism (AFLP) markers. A set of four primer-pairs with two/three selective nucleotides scored 836 AFLP amplified fragments (putative loci/genome landmarks), all of which were polymorphic. Populations collected from the southern region of the country showed the highest genetic diversity parameters, whereas those collected from the central regions showed the lowest values. Analysis of molecular variance (AMOVA) revealed that 78% of the genetic variability was attributable to differences within populations. Pairwise values for population differentiation and genetic structure were statistically significant for all variances. The UPGMA dendrogram, validated by principal coordinate analysis-grouped accessions, corresponded to the geographical origin of the accessions. Mantel's test showed that there was a significant correlation between the genetic and geographical distances ( r  = 0.35, P  < 0.04). In summary, the AFLP assay demonstrated the existence of substantial genetic variation in P. turgidum . The relationship between the genetic diversity and geographical source of P. turgidum populations of Saudi Arabia, as revealed through this comprehensive study, will enable effective resource management and restoration of new areas without compromising adaptation and genetic diversity.

  18. Refining and defining riverscape genetics: How rivers influence population genetic structure

    Treesearch

    Chanté D. Davis; Clinton W. Epps; Rebecca L. Flitcroft; Michael A. Banks

    2018-01-01

    Traditional analysis in population genetics evaluates differences among groups of individuals and, in some cases, considers the effects of distance or potential barriers to gene flow. Genetic variation of organisms in complex landscapes, seascapes, or riverine systems, however, may be shaped by many forces. Recent research has linked habitat heterogeneity and landscape...

  19. Third National Even Start Evaluation: Follow-Up Findings from the Experimental Design Study. NCEE 2005-3002

    ERIC Educational Resources Information Center

    Ricciuti, Anne E., St.Pierre, Robert G.; Lee, Wang; Parsad, Amanda

    2004-01-01

    Citation: Ricciuti, A.E., R.G. St.Pierre, W. Lee, A. Parsad & T. Rimdzius. Third National Even Start Evaluation: Follow-Up Findings From the Experimental Design Study. U.S. Department of Education, Institute of Education Sciences, National Center for Education Evaluation and Regional Assistance. Washington, D.C., 2004. Background: The Even…

  20. Los Angeles congestion reduction demonstration express lanes program : national evaluation report.

    DOT National Transportation Integrated Search

    2015-08-01

    This document presents the final report on the national evaluation of the Los Angeles Congestion Reduction Demonstration (LA CRD) ExpressLanes Program under the United States Department of Transportation (U.S. DOT) CRD Program. The LA CRD projects fo...

  1. Genetic Evaluation for the Scoliosis Gene(s) in Patients with Neurofibromatosis 1 and Scoliosis

    DTIC Science & Technology

    2014-08-01

    Genetic Evaluation for the Scoliosis Gene(s) in Patients with Neurofibromatosis 1 and Scoliosis PRINCIPAL INVESTIGATOR: David W. Polly, Jr... Neurofibromatosis 1 and Scoliosis 5b. GRANT NUMBER W81XWH-10-1-0469 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) David. W. Polly Jr., MD 5d. PROJECT...dystrophic scoliosis is one of most common skeletal manifestations of Neurofibromatosis type 1. Dystrophic scoliosis has a more progressive and

  2. Genetic Evaluation for the Scoliosis Gene(s) in Patients with Neurofibromatosis 1 and Scoliosis

    DTIC Science & Technology

    2013-08-01

    AD_________________ (Leave blank) Award Number: W81HWH-10-1-0469 TITLE: Genetic Evaluation for the Scoliosis Gene(s) in Patients with...Neurofibromatosis 1 and Scoliosis PRINCIPAL INVESTIGATOR: David W. Polly, Jr., MD CONTRACTING ORGANIZATION: UNIVERSITY OF MINNESOTA Minneapolis, MN 55455...the Scoliosis Gene(s) in Patients with Neurofibromatosis 1 and Scoliosis 5b. GRANT NUMBER W81HWH-10- -0469 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S

  3. Participation in Performance-Evaluation Studies by U.S. Geological Survey National Water Quality Laboratory

    USGS Publications Warehouse

    Glodt, Stephen R.; Pirkey, Kimberly D.

    1998-01-01

    Performance-evaluation studies provide customers of the U.S. Geological Survey National Water Quality Laboratory (NWQL) with data needed to evaluate performance and to compare of select laboratories for analytical work. The NWQL participates in national and international performance-evaluation (PE) studies that consist of samples of water, sediment, and aquatic biological materials for the analysis of inorganic constituents, organic compounds, and radionuclides. This Fact Sheet provides a summary of PE study results from January 1993 through April 1997. It should be of particular interest to USGS customers and potential customers of the NWQL, water-quality specialists, cooperators, and agencies of the Federal Government.

  4. Too Much, Too Soon? Unanswered Questions from National Response to Intervention Evaluation

    ERIC Educational Resources Information Center

    Gersten, Russell; Jayanthi, Madhavi; Dimino, Joseph

    2017-01-01

    The report of the national response to intervention (RTI) evaluation study, conducted during 2011-2012, was released in November 2015. Anyone who has read the lengthy report can attest to its complexity and the design used in the study. Both these factors can influence the interpretation of the results from this evaluation. In this commentary, we…

  5. 76 FR 10338 - Evaluation of State Coastal Management Programs and National Estuarine Research Reserves

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-02-24

    ... DEPARTMENT OF COMMERCE National Oceanic and Atmospheric Administration Evaluation of State Coastal... Administration (NOAA), Office of Ocean and Coastal Resource Management, National Ocean Service, Commerce. ACTION... to its Reserve final management plan approved by the Secretary of Commerce, and adhered to the terms...

  6. Evaluation of offspring and maternal genetic effects on disease risk using a family-based approach: the "pent" design.

    PubMed

    Mitchell, Laura E; Weinberg, Clarice R

    2005-10-01

    Diseases that develop during gestation may be influenced by the genotype of the mother and the inherited genotype of the embryo/fetus. However, given the correlation between maternal and offspring genotypes, differentiating between inherited and maternal genetic effects is not straightforward. The two-step transmission disequilibrium test was the first, family-based test proposed for the purpose of differentiating between maternal and offspring genetic effects. However, this approach, which requires data from "pents" comprising an affected child, mother, father, and maternal grandparents, provides biased tests for maternal genetic effects when the offspring genotype is associated with disease. An alternative approach based on transmissions from grandparents provides unbiased tests for maternal and offspring genetic effects but requires genotype information for paternal grandparents in addition to pents. The authors have developed two additional, pent-based approaches for the evaluation of maternal and offspring genetic effects. One approach requires the assumption of genetic mating type symmetry (pent-1), whereas the other does not (pent-2). Simulation studies demonstrate that both of these approaches provide valid estimation and testing for offspring and maternal genotypic effects. In addition, the power of the pent-1 approach is comparable with that of the approach based on data using all four grandparents.

  7. Investigating genetic discrimination in Australia: a large-scale survey of clinical genetics clients.

    PubMed

    Taylor, S; Treloar, S; Barlow-Stewart, K; Stranger, M; Otlowski, M

    2008-07-01

    We report first results from the Australian Genetic Discrimination Project of clinical genetics services clients' perceptions and experiences regarding alleged differential treatment associated with having genetic information. Adults (n = 2667) who had presented from 1998 to 2003 regarding predictive or presymptomatic testing for designated mature-onset conditions were surveyed; 951/1185 respondents met inclusion criteria for current asymptomatic status. Neurological conditions and familial cancers were primary relevant conditions for 87% of asymptomatic respondents. Specific incidents of alleged negative treatment, reported by 10% (n = 93) of respondents, occurred in life insurance (42%), employment (5%), family (22%), social (11%) and health (20%) domains. Respondents where neuro-degenerative conditions were relevant were more likely overall to report incidents and significantly more likely to report incidents in the social domain. Most incidents in the post-test period occurred in the first year after testing. Only 15% of respondents knew where to complain officially if treated negatively because of genetics issues. Recommendations include the need for increased community and clinical education regarding genetic discrimination, for extended clinical genetics sector engagement and for co-ordinated monitoring, research and policy development at national levels in order for the full benefits of genetic testing technology to be realised.

  8. Genetic evaluation of lactation persistency for five breeds of dairy cattle.

    PubMed

    Cole, J B; Null, D J

    2009-05-01

    Cows with high lactation persistency tend to produce less milk than expected at the beginning of lactation and more than expected at the end. Best prediction of lactation persistency is calculated as a function of trait-specific standard lactation curves and linear regressions of test-day deviations on days in milk. Because regression coefficients are deviations from a tipping point selected to make yield and lactation persistency phenotypically uncorrelated it should be possible to use 305-d actual yield and lactation persistency to predict yield for lactations with later endpoints. The objectives of this study were to calculate (co)variance components and breeding values for best predictions of lactation persistency of milk (PM), fat (PF), protein (PP), and somatic cell score (PSCS) in breeds other than Holstein, and to demonstrate the calculation of prediction equations for 400-d actual milk yield. Data included lactations from Ayrshire, Brown Swiss, Guernsey (GU), Jersey (JE), and Milking Shorthorn (MS) cows calving since 1997. The number of sires evaluated ranged from 86 (MS) to 3,192 (JE), and mean sire estimated breeding value for PM ranged from 0.001 (Ayrshire) to 0.10 (Brown Swiss); mean estimated breeding value for PSCS ranged from -0.01 (MS) to -0.043 (JE). Heritabilities were generally highest for PM (0.09 to 0.15) and lowest for PSCS (0.03 to 0.06), with PF and PP having intermediate values (0.07 to 0.13). Repeatabilities varied considerably between breeds, ranging from 0.08 (PSCS in GU, JE, and MS) to 0.28 (PM in GU). Genetic correlations of PM, PF, and PP with PSCS were moderate and favorable (negative), indicating that increasing lactation persistency of yield traits is associated with decreases in lactation persistency of SCS, as expected. Genetic correlations among yield and lactation persistency were low to moderate and ranged from -0.55 (PP in GU) to 0.40 (PP in MS). Prediction equations for 400-d milk yield were calculated for each breed by

  9. 78 FR 35604 - National Medal of Technology and Innovation Nomination Evaluation Committee Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-06-13

    ..., technology, business, and patent law drawn from both the public and private sectors and are appointed by the...] National Medal of Technology and Innovation Nomination Evaluation Committee Meeting AGENCY: United States... Technology and Innovation (NMTI) Nomination Evaluation Committee will meet in closed session on Wednesday...

  10. 76 FR 68167 - National Medal of Technology and Innovation Nomination Evaluation Committee Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-11-03

    ... patent law drawn from both the public and private sectors and are appointed by the Secretary for three...] National Medal of Technology and Innovation Nomination Evaluation Committee Meeting AGENCY: United States... and Innovation (NMTI) Nomination Evaluation Committee will meet in closed session on Friday, November...

  11. THE SELECTION OF A NATIONAL RANDOM SAMPLE OF TEACHERS FOR EXPERIMENTAL CURRICULUM EVALUATION.

    ERIC Educational Resources Information Center

    WELCH, WAYNE W.; AND OTHERS

    MEMBERS OF THE EVALUATION SECTION OF HARVARD PROJECT PHYSICS, DESCRIBING WHAT IS SAID TO BE THE FIRST ATTEMPT TO SELECT A NATIONAL RANDOM SAMPLE OF (HIGH SCHOOL PHYSICS) TEACHERS, LIST THE STEPS AS (1) PURCHASE OF A LIST OF PHYSICS TEACHERS FROM THE NATIONAL SCIENCE TEACHERS ASSOCIATION (MOST COMPLETE AVAILABLE), (2) SELECTION OF 136 NAMES BY A…

  12. Genetic basis for using Tradescantia clone 4430 as an environmental monitor of mutagens

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Emmerling-Thompson, M.; Nawrocky, M.M.

    1980-01-01

    The Tradescantia stamen hair system developed by the late Dr. Arnold H. Sparrow has been used in a wide variety of radiobiological studies, and more recently as an environmental monitor for assessing the potential genetic hazards of various gaseous chemicals of both industrial and natural origin. The use of this system as a genetic monitor necessitates a thorough genetic analysis of the marker employed to measure mutagenicity. The phenotypic change in color from blue to pink in either petal or stamen hair cells has been used as a genetic marker under the assumption that the petal and stamen hair cellsmore » are heterozygous for blue, and if the dominant allele for blue color mutates or is lost, the recessive allele determines that the daughter cells will be pink. It is the purpose of this communication to present the results of genetic tests by conventional breeding methods involving the pink locus in Tradescantia clone 4430, the diploid clone used exclusively in the Mobile Monitoring Vehicle at Brookhaven National Laboratory. Confirmation of a genetic, as opposed to a physiological, origin of the pink color in the petal and stamen hair cells of Tradescantia clone 4430 is essential to evaluating the validity of this test system.« less

  13. role of seed analysis in genetic conservation

    Treesearch

    V.G. Vankus; R.P. Karrfalt

    2017-01-01

    Long term storage of seeds at freezing temperatures is one strategy for genetic conservation of tree species. It can be used to preserve species that produce seeds that remain viable after drying to a low seed moisture content. The U.S. Department of Agriculture Forest Service (USDA FS) National Seed Laboratory (NSL) began long term seed storage for genetic...

  14. Collecting genetic variation on a small island

    Treesearch

    S. Kallow; C. Trivedi

    2017-01-01

    Genetic variation is the most powerful factor in ensuring the long term success of trees and forests in times of change. In order to protect against loss of genetic variation from threats, including pests and diseases and climate change, the Royal Botanic Gardens, Kew, is developing a national tree seed collection for the United Kingdom. This paper...

  15. Genetics Home Reference: isovaleric acidemia

    MedlinePlus

    ... Consortium of Metabolic Programs Orphanet: Isovaleric acidemia Screening, Technology, and Research in Genetics Virginia Department of Health (PDF) Patient Support and Advocacy Resources (4 links) CLIMB (Children Living With Inherited Metabolic Diseases) (UK) National Organization ...

  16. Genetics Home Reference: propionic acidemia

    MedlinePlus

    ... Consortium of Metabolic Programs Orphanet: Propionic acidemia Screening, Technology, and Research in Genetics Virginia Department of Health (PDF) Patient Support and Advocacy Resources (6 links) CLIMB (Children Living With Inherited Metabolic Diseases) (UK) National Organization ...

  17. Evaluation of algorithms used to order markers on genetic maps.

    PubMed

    Mollinari, M; Margarido, G R A; Vencovsky, R; Garcia, A A F

    2009-12-01

    When building genetic maps, it is necessary to choose from several marker ordering algorithms and criteria, and the choice is not always simple. In this study, we evaluate the efficiency of algorithms try (TRY), seriation (SER), rapid chain delineation (RCD), recombination counting and ordering (RECORD) and unidirectional growth (UG), as well as the criteria PARF (product of adjacent recombination fractions), SARF (sum of adjacent recombination fractions), SALOD (sum of adjacent LOD scores) and LHMC (likelihood through hidden Markov chains), used with the RIPPLE algorithm for error verification, in the construction of genetic linkage maps. A linkage map of a hypothetical diploid and monoecious plant species was simulated containing one linkage group and 21 markers with fixed distance of 3 cM between them. In all, 700 F(2) populations were randomly simulated with 100 and 400 individuals with different combinations of dominant and co-dominant markers, as well as 10 and 20% of missing data. The simulations showed that, in the presence of co-dominant markers only, any combination of algorithm and criteria may be used, even for a reduced population size. In the case of a smaller proportion of dominant markers, any of the algorithms and criteria (except SALOD) investigated may be used. In the presence of high proportions of dominant markers and smaller samples (around 100), the probability of repulsion linkage increases between them and, in this case, use of the algorithms TRY and SER associated to RIPPLE with criterion LHMC would provide better results.

  18. Population genetic differentiation of height and body mass index across Europe

    PubMed Central

    Robinson, Matthew R.; Hemani, Gibran; Medina-Gomez, Carolina; Mezzavilla, Massimo; Esko, Tonu; Shakhbazov, Konstantin; Powell, Joseph E.; Vinkhuyzen, Anna; Berndt, Sonja I.; Gustafsson, Stefan; Justice, Anne E.; Kahali, Bratati; Locke, Adam E.; Pers, Tune H.; Vedantam, Sailaja; Wood, Andrew R.; van Rheenen, Wouter; Andreassen, Ole A.; Gasparini, Paolo; Metspalu, Andres; van den Berg, Leonard H.; Veldink, Jan H.; Rivadeneira, Fernando; Werge, Thomas M.; Abecasis, Goncalo R.; Boomsma, Dorret I.; Chasman, Daniel I.; de Geus, Eco J.C.; Frayling, Timothy M.; Hirschhorn, Joel N.; Hottenga, Jouke Jan; Ingelsson, Erik; Loos, Ruth J.F.; Magnusson, Patrik K. E.; Martin, Nicholas G.; Montgomery, Grant W.; North, Kari E.; Pedersen, Nancy L.; Spector, Timothy D.; Speliotes, Elizabeth K.; Goddard, Michael E.; Yang, Jian; Visscher, Peter M.

    2016-01-01

    Across-nation differences in the mean of complex traits such as obesity and stature are common1–8, but the reasons for these differences are not known. Here, we find evidence that many independent loci of small effect combine to create population genetic differences in height and body mass index (BMI) in a sample of 9,416 individuals across 14 European countries. Using discovery data on over 250,000 individuals and unbiased estimates of effect sizes from 17,500 sib pairs, we estimate that 24% (95% CI: 9%, 41%) and 8% (95% CI: 4%, 16%) of the captured additive genetic variance for height and BMI across Europe are attributed to among-population genetic differences. Population genetic divergence differed significantly from that expected under a null model (P <3.94e−08 for height and P<5.95e−04 for BMI), and we find an among-population genetic correlation for tall and slender nations (r = −0.80 (95% CI: −0.95, −0.60), contrasting no genetic correlation between height and BMI within populations (r = −0.016, 95% CI: −0.041, 0.001), consistent with selection on height genes that also act to reduce BMI. Observations of mean height across nations correlated with the predicted genetic means for height (r = 0.51, P<0.001), so that a proportion of observed differences in height within Europe reflect genetic factors. In contrast, observed mean BMI did not correlate with the genetic estimates (P<0.58), implying that genetic differentiation in BMI is masked by environmental differences across Europe. PMID:26366552

  19. Increasing global participation in genetics research through DNA barcoding.

    PubMed

    Adamowicz, Sarah J; Steinke, Dirk

    2015-12-01

    DNA barcoding--the sequencing of short, standardized DNA regions for specimen identification and species discovery--has promised to facilitate rapid access to biodiversity knowledge by diverse users. Here, we advance our opinion that increased global participation in genetics research is beneficial, both to scientists and for science, and explore the premise that DNA barcoding can help to democratize participation in genetics research. We examine publication patterns (2003-2014) in the DNA barcoding literature and compare trends with those in the broader, related domain of genomics. While genomics is the older and much larger field, the number of nations contributing to the published literature is similar between disciplines. Meanwhile, DNA barcoding exhibits a higher pace of growth in the number of publications as well as greater evenness among nations in their proportional contribution to total authorships. This exploration revealed DNA barcoding to be a highly international discipline, with growing participation by researchers in especially biodiverse nations. We briefly consider several of the challenges that may hinder further participation in genetics research, including access to training and molecular facilities as well as policy relating to the movement of genetic resources.

  20. Genetic variation and seed transfer guidelines for ponderosa pine in the Ochoco and Malheur National Forests of central Oregon.

    Treesearch

    Frank C. Sorensen; John C. Weber

    1994-01-01

    Adaptive genetic variation in seed and seedling traits was evaluated for 280 families from 220 locations. Factor scores from three principal components were related by multiple regression to latitude, longitude, elevation, slope, and aspect of the seed source, and by classification analysis to seed zone and elevation band in seed zone. Location variance was significant...

  1. Education and certification of genetic counselors.

    PubMed

    Katsichti, L; Hadzipetros-Bardanis, M; Bartsocas, C S

    1999-01-01

    Genetic counseling is defined by the American Society of Human Genetics as a communication process which deals with the human problems associated with the occurrence, or risk of occurrence, of a genetic disorder in a family. The first graduate program (Master's degree) in genetic counseling started in 1969 at Sarah Lawrence College, NY, USA, while in 1979 the National Society of Genetic Counseling (NSGC) was established. Today, there are 29 programs in U.S.A. offering a Master's degree in Genetic Counseling, five programs in Canada, one in Mexico, one in England and one in S. Africa. Most of these graduate programs offer two year training, consisting of graduate courses, seminars, research and practical training. Emphasis is given in human physiology, biochemistry, clinical genetics, cytogenetics, molecular and biochemical genetics, population genetics and statistics, prenatal diagnosis, teratology and genetic counseling in relation to psychosocial and ethical issues. Certification for eligible candidates is available through the American Board of Medical Genetics (ABMG). Requirements for certification include a master's degree in human genetics, training at sites accredited by the ABMG, documentation of genetic counseling experience, evidence of continuing education and successful completion of a comprehensive ABMG certification examination. As professionals, genetic counselors should maintain expertise, should insure mechanisms for professional advancement and should always maintain the ability to approach their patients.

  2. Evaluating the genetic susceptibility to peer reported bullying behaviors.

    PubMed

    Musci, Rashelle J; Bettencourt, Amie F; Sisto, Danielle; Maher, Brion; Uhl, George; Ialongo, Nicholas; Bradshaw, Catherine P

    2018-05-01

    Bullying is a significant public health concern with lasting impacts on youth. Although environmental risk factors for bullying have been well-characterized, genetic influences on bullying are not well understood. This study explored the role of genetics on early childhood bullying behavior. Participants were 561 children who participated in a longitudinal randomized control trial of a preventive intervention beginning in first grade who were present for the first grade peer nominations used to measure early childhood bullying and who provided genetic data during the age 19-21 year follow-up in the form of blood or saliva. Measures included a polygenic risk score (PRS) derived from a conduct disorder genome wide association study. Latent profile analysis identified three profiles of bullying behaviors during early childhood. Results suggest that the PRS was significantly associated with class membership, with individuals in the moderate bully-victim profile having the highest levels of the PRS and those in the high bully-victim profile having the lowest levels. This line of research has important implications for understanding genetic vulnerability to bullying in early childhood. Copyright © 2018 Elsevier B.V. All rights reserved.

  3. Consumers' views of direct-to-consumer genetic information.

    PubMed

    McBride, Colleen M; Wade, Christopher H; Kaphingst, Kimberly A

    2010-01-01

    In this report, we describe the evolution and types of genetic information provided directly to consumers, discuss potential advantages and disadvantages of these products, and review research evaluating consumer responses to direct-to-consumer (DTC) genetic testing. The available evidence to date has focused on predictive tests and does not suggest that individuals, health care providers, or health care systems have been harmed by a DTC provision of genetic information. An understanding of consumer responses to susceptibility tests has lagged behind. The Multiplex Initiative is presented as a case study of research to understand consumers' responses to DTC susceptibility tests. Three priority areas are recommended for accelerated research activities to inform public policy regarding DTC genetic information: (a) exploring consumer's long-term responses to DTC genetic testing on a comprehensive set of outcomes, (b) evaluating optimal services to support decision making about genetic testing, and (c) evaluating best practices in promoting genetic competencies among health providers.

  4. National Uranium Resource Evaluation: Durango Quadrangle, Colorado

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Theis, N.J.; Madson, M.E.; Rosenlund, G.C.

    1981-06-01

    The Durango Quadrangle (2/sup 0/), Colorado, was evaluated using National Uranium Resource Evaluation criteria to determine environments favorable for uranium deposits. General reconnaissance, geologic and radiometric investigations, was augmented by detailed surface examination and radiometric and geochemical studies in selected areas. Eight areas favorable for uranium deposits were delineated. Favorable geologic environments include roscoelite-type vanadium-uranium deposits in the Placerville and Barlow Creek-Hermosa Creek districts, sandstone uranium deposits along Hermosa Creek, and vein uranium deposits in the Precambrian rocks of the Needle Mountains area and in the Paleozoic rocks of the Tuckerville and Piedra River Canyon areas. The major portions ofmore » the San Juan volcanic field, the San Juan Basin, and the San Luis Basin within the quadrangle were judged unfavorable. Due to lack of information, the roscoelite belt below 1000 ft (300 m), the Eolus Granite below 0.5 mi (0.8 km), and the Lake City caldera are unevaluated. The Precambrian Y melasyenite of Ute Creek and the Animas Formation within the Southern Ute Indian Reservation are unevaluated due to lack of access.« less

  5. National evaluation of the New Mexico client referral, ridership, and financial tracking (CRRAFT) system

    DOT National Transportation Integrated Search

    2005-07-29

    This final report describes the national evaluation of the New Mexico Client Referral, Ridership, and Financial Tracking (CRRAFT) System. The evaluation methodology assessed twelve hypotheses related to the expected outcomes of CRRAFT. To assess the ...

  6. Understanding of evaluation capacity building in practice: a case study of a national medical education organization.

    PubMed

    Sarti, Aimee J; Sutherland, Stephanie; Landriault, Angele; DesRosier, Kirk; Brien, Susan; Cardinal, Pierre

    2017-01-01

    Evaluation capacity building (ECB) is a topic of great interest to many organizations as they face increasing demands for accountability and evidence-based practices. ECB is about building the knowledge, skills, and attitudes of organizational members, the sustainability of rigorous evaluative practices, and providing the resources and motivations to engage in ongoing evaluative work. There exists a solid foundation of theoretical research on ECB, however, understanding what ECB looks like in practice is relatively thin. Our purpose was to investigate what ECB looks like firsthand within a national medical educational organization. The context for this study was the Acute Critical Events Simulation (ACES) organization in Canada, which has successfully evolved into a national educational program, driven by physicians. We conducted an exploratory qualitative study to better understand and describe ECB in practice. In doing so, interviews were conducted with program leaders and instructors so as to gain a richer understanding of evaluative processes and practices. A total of 21 individuals participated in the semistructured interviews. Themes from our qualitative data analysis included the following: evaluation knowledge, skills, and attitudes, use of evaluation findings, shared evaluation beliefs and commitment, evaluation frameworks and processes, and resources dedicated to evaluation. The national ACES organization was a useful case study to explore ECB in practice. The ECB literature provided a solid foundation to understand the purpose and nuances of ECB. This study added to the paucity of studies focused on examining ECB in practice. The most important lesson learned was that the organization must have leadership who are intrinsically motivated to employ and use evaluation data to drive ongoing improvements within the organization. Leaders who are intrinsically motivated will employ risk taking when evaluation practices and processes may be somewhat unfamiliar

  7. Genetic and morphologic variation in 'Phyllodoce empetriformis' and 'P. glanduliflora' (Ericaceae) in Mount Rainier National Park, Washington

    USGS Publications Warehouse

    Rochefort, Regina M.; Peterson, D.L.

    2001-01-01

    Genetic and morphological diversity of Phyllodoce empetriformis (Sw.) D. Don and Phyllodoce glanduliflora (hook.) Cov. were surveyed in Mount Rainier National Park in the Cascade Mountains of Washington State. Paired populations at high and low elevations were sampled at three study areas between 1720- and 2451-m elevation. Allozyme analysis of four polymorphic loci indicates high levels of genetic diversity within populations (P. empetriformis = 94.2% and P. glanduliflora = 93.4% of total diversity) and significant differences in allele frequencies among populations and study areas. Individual populations are composed of multiple clones with high ratios of local to widespread genotypes. The proportion of distinguishable clones ranges from 32 to 83% within individual populations. Within individual populations, 18-67% of genotypes were restricted to one population. Patterns of morphologic variation, estimated through measurements of leaf width, leaf length, stem extension, and plant height paralleled those displayed by allozyme analysis. Significant differences were found in leaf width and stem length for P. empetriformis and among greenhouse populations for leaf width (P. empetriformis) and leaf length (P. glanduliflora). Species conservation strategies for Phyllodoce should concentrate on the maintenance of within-population levels of diversity, protection of adjacent populations, and protection of safe sites for recruitment of new populations.

  8. Sampling scheme on genetic structure of tree species in fragmented tropical dry forest: an evaluation from landscape genetic simulations

    Treesearch

    Yessica Rico; Marie-Stephanie Samain

    2017-01-01

    Investigating how genetic variation is distributed across the landscape is fundamental to inform forest conservation and restoration. Detecting spatial genetic discontinuities has value for defining management units, germplasm collection, and target sites for reforestation; however, inappropriate sampling schemes can misidentify patterns of genetic structure....

  9. Filipino-American Nurses' Knowledge, Perceptions, Beliefs and Practice of Genetics and Genomics.

    PubMed

    Saligan, Leorey N; Rivera, Reynaldo R

    2014-01-01

    There is limited information on the knowledge, perceptions, beliefs, and practice, about genetics and genomics among Filipino-American nurses. The National Coalition of Ethnic Minority Organizations (NCEMNA), in which the Philippine Nurses Association of America (PNAA) is a member organization, conducted an online survey to describe the genomic knowledge, perceptions, beliefs, and practice of minority nurses. This study reports on responses from Filipino-American survey participants, which is a subset analysis of the larger NCEMNA survey. The purpose of this study was to explore the knowledge, perceptions, beliefs, practice and genomic education of Filipino-American nurses. An online survey of 112 Filipino-American nurses was conducted to describe the knowledge, perceptions, beliefs, and practice of genetics/genomics. Survey responses were analyzed using descriptive statistics. Most (94%) Filipino-American nurses wanted to learn more about genetics. Although 41% of the respondents indicated good understanding of genetics of common diseases, 60% had not attended any related continuing education courses since RN licensure, and 73% reported unavailability of genetic courses to take. The majority (83%) of PNAA respondents indicated that they would attend genetics/genomics awareness training if it was offered by their national organization during their annual conference, and 86% reported that the national organization should have a visible role in genetics/genomics initiatives in their community. Filipino-American nurses wanted to learn more about genetics and were willing to attend genetics/genomics trainings if offered by PNAA. The study findings can assist PNAA in planning future educational programs that incorporates genetics and genomics information.

  10. Small molecules, big players: the National Cancer Institute's Initiative for Chemical Genetics.

    PubMed

    Tolliday, Nicola; Clemons, Paul A; Ferraiolo, Paul; Koehler, Angela N; Lewis, Timothy A; Li, Xiaohua; Schreiber, Stuart L; Gerhard, Daniela S; Eliasof, Scott

    2006-09-15

    In 2002, the National Cancer Institute created the Initiative for Chemical Genetics (ICG), to enable public research using small molecules to accelerate the discovery of cancer-relevant small-molecule probes. The ICG is a public-access research facility consisting of a tightly integrated team of synthetic and analytical chemists, assay developers, high-throughput screening and automation engineers, computational scientists, and software developers. The ICG seeks to facilitate the cross-fertilization of synthetic chemistry and cancer biology by creating a research environment in which new scientific collaborations are possible. To date, the ICG has interacted with 76 biology laboratories from 39 institutions and more than a dozen organic synthetic chemistry laboratories around the country and in Canada. All chemistry and screening data are deposited into the ChemBank web site (http://chembank.broad.harvard.edu/) and are available to the entire research community within a year of generation. ChemBank is both a data repository and a data analysis environment, facilitating the exploration of chemical and biological information across many different assays and small molecules. This report outlines how the ICG functions, how researchers can take advantage of its screening, chemistry and informatic capabilities, and provides a brief summary of some of the many important research findings.

  11. Evaluation of National Adaptation Planning: A Case Study in Indonesia

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Kawanishi, Masato; Ridwan, Nadia Amelia

    2016-01-01

    The present study aims to evaluate national adaptation planning, using the National Action Plan for Climate Change Adaptation (RAN-API) in Indonesia as a case. In doing so, the current study applies the methodology used in Preston et al. (2011), where a set of 57 adaptation plans from three developed countries was evaluated against 19 planning processes. The same criteria and scoring system were applied to the current study to evaluate RAN-API, both as identified in its document and as viewed by the stakeholders. A desktop review and questionnaires were undertaken to this end. It was found that discrepancies exist betweenmore » the status of RAN-API as documented and the stakeholders views of some criteria, suggesting that information or knowledge gaps may still exist despite the efforts made for stakeholder engagement. In some of the other criteria, the stakeholders views match the status as identified in the document. Most notably, they both agree that the weakness of RAN-API is related to limited consideration for non-climatic factors. While the development of RAN-API is a critical step taken in the country, the current study finds that there remains room for further improvement. The criteria or indicators to be used to assess the progress of RAN-API as a whole may need to be further elaborated.« less

  12. Validation of test-day models for genetic evaluation of dairy goats in Norway.

    PubMed

    Andonov, S; Ødegård, J; Boman, I A; Svendsen, M; Holme, I J; Adnøy, T; Vukovic, V; Klemetsdal, G

    2007-10-01

    Test-day data for daily milk yield and fat, protein, and lactose content were sampled from the years 1988 to 2003 in 17 flocks belonging to 2 genetically well-tied buck circles. In total, records from 2,111 to 2,215 goats for content traits and 2,371 goats for daily milk yield were included in the analysis, averaging 2.6 and 4.8 observations per goat for the 2 groups of traits, respectively. The data were analyzed by using 4 test-day models with different modeling of fixed effects. Model [0] (the reference model) contained a fixed effect of year-season of kidding with regression on Ali-Schaeffer polynomials nested within the year-season classes, and a random effect of flock test-day. In model [1], the lactation curve effect from model [0] was replaced by a fixed effect of days in milk (in 3-d periods), the same for all year-seasons of kidding. Models [2] and [3] were obtained from model [1] by removing the fixed year-season of kidding effect and considering the flock test-day effect as either fixed or random, respectively. The models were compared by using 2 criteria: mean-squared error of prediction and a test of bias affecting the genetic trend. The first criterion indicated a preference for model [3], whereas the second criterion preferred model [1]. Mean-squared error of prediction is based on model fit, whereas the second criterion tests the ability of the model to produce unbiased genetic evaluation (i.e., its capability of separating environmental and genetic time trends). Thus, a fixed structure with year (year, year-season, or possibly flock-year) was indicated to appropriately separate time trends. Heritability estimates for daily milk yield and milk content were 0.26 and 0.24 to 0.27, respectively.

  13. Evaluating alternate models to estimate genetic parameters of calving traits in United Kingdom Holstein-Friesian dairy cattle

    PubMed Central

    2012-01-01

    Background The focus in dairy cattle breeding is gradually shifting from production to functional traits and genetic parameters of calving traits are estimated more frequently. However, across countries, various statistical models are used to estimate these parameters. This study evaluates different models for calving ease and stillbirth in United Kingdom Holstein-Friesian cattle. Methods Data from first and later parity records were used. Genetic parameters for calving ease, stillbirth and gestation length were estimated using the restricted maximum likelihood method, considering different models i.e. sire (−maternal grandsire), animal, univariate and bivariate models. Gestation length was fitted as a correlated indicator trait and, for all three traits, genetic correlations between first and later parities were estimated. Potential bias in estimates was avoided by acknowledging a possible environmental direct-maternal covariance. The total heritable variance was estimated for each trait to discuss its theoretical importance and practical value. Prediction error variances and accuracies were calculated to compare the models. Results and discussion On average, direct and maternal heritabilities for calving traits were low, except for direct gestation length. Calving ease in first parity had a significant and negative direct-maternal genetic correlation. Gestation length was maternally correlated to stillbirth in first parity and directly correlated to calving ease in later parities. Multi-trait models had a slightly greater predictive ability than univariate models, especially for the lowly heritable traits. The computation time needed for sire (−maternal grandsire) models was much smaller than for animal models with only small differences in accuracy. The sire (−maternal grandsire) model was robust when additional genetic components were estimated, while the equivalent animal model had difficulties reaching convergence. Conclusions For the evaluation of

  14. Genetic and Non-Genetic Factors Affecting the Quality of Anticoagulation Control and Vascular Events in Atrial Fibrillation.

    PubMed

    Park, Yun Kyung; Lee, Mi Ji; Kim, Jae Ha; Lee, Jin Soo; Park, Rae Woong; Kim, Gyeong-Moon; Chung, Chin-Sang; Lee, Kwang Ho; Kim, June Soo; Lee, Soo-Youn; Bang, Oh Young

    2017-06-01

    Warfarin has a narrow therapeutic window. We hypothesized that genetic factors related to warfarin metabolism (CYP2C9) and activity (VKORC1) would show stronger associations than modifiable factors with the quality of anticoagulation control and risks for thromboembolism and hemorrhage. In this retrospective cohort analysis, clinical and genetic data were collected from 380 patients with atrial fibrillation (AF) who were followed for an average observation period of 4 years. We evaluated the factors associated with time in therapeutic range (TTR, international normalized ratio [INR]: 2-3) and vascular events (either thromboembolic or hemorrhagic), including both genetic (CYP2C9 and VKORC1 genotype) and modifiable factors (anticoagulation service and warfarin dose assessment interval). The genotypic frequency of CYP2C9*3 (rs1057910) was 9.5% and that of VKORC1 1173C>T (rs9934438) was 16.3%. TTR showed dependence on VKORC1 polymorphism: TTR was higher in carriers of the VKORC1 1173C>T than of the VKORC1 TT genotype (61.7 ± 16.0% versus 56.7 ± 17.4%, P = .031). Multivariate testing showed that the VKORC1 genotype and anticoagulation service were independently related to labile INRs (TTR <65%). Vascular events were observed in 66 patients (18.4%) during the study period. A Cox proportional hazard model showed that the use of anticoagulation service and patients' characteristics, such as AF-thromboembolic risk (CHA 2 DS 2 -VASc score: Congestive heart failure, Hypertension, Age 75 years or older, Diabetes mellitus, previous Stroke or transient ischemic attack, Vascular disease, Age 65 to 74 years, female) and consequence (neurologic disability), but not genetic factors, were independently associated with vascular events. Both genetic factor (VKORC1 genotype) and clinical efforts (anticoagulation service) influenced the quality of anticoagulation control. However, clinical events were more strongly associated with patient characteristics and clinical

  15. Evaluation of the genetic parameters and mutation analysis of 22 STR loci in the central Chinese Han population.

    PubMed

    Hongdan, Wang; Bing, Kang; Ning, Su; Miao, He; Bo, Zhang; Yuxin, Guo; Bofeng, Zhu; Shixiu, Liao; Zhaoshu, Zeng

    2017-01-01

    At present, the Han nationality is China's main ethnic group and also the most populous nation in the world. This is a great resource to study microsatellite mutations and for the study of ethnogeny. The aim of this study is to investigate the genetic polymorphisms and mutations of 22 autosomal STR loci in 2475 individuals from Henan province, China. DNA is amplified and genotyped using PowerPlex™24 system. The gene frequencies, forensic parameters, and the mutation rate of the 22 STR loci are analyzed. A total of 295 alleles are observed in this Henan Han population, and the allelic frequencies ranged from 0.0003 to 0.5036. In order to investigate the genetic relationships between the Henan Han and the other 14 different populations, our present data were compared with previously published data for the same 15 STR loci. The results indicated that the Henan Han had closer genetic relationships the groups including Minnan Han, Maonan, Yi and Guangdong Han groups while the South morocco population, the Moroccan population, the Malay group, and the Uigur stand away from Henan Han. Except of D2S441, D13S317, PentaE, D2S1338, D5S818, TPOX and D19S433, the mutation events are found in the other 15 STR loci. A total of 40 mutation events are observed in the 15 STR loci. The mutation rates are ranged from 0 to 4.85 × 10 -3 . In this study, 39 mutations are single-step mutations, and only one at FGA comprised two steps. STR mutation is commonly existed in paternity testing, while there are no STR mutation studies of the 22 STR loci in the Henan Han population. It is of great importance in forensic individual discrimination and paternal testing.

  16. Stakeholder Evaluation for Canaan Valley National Wildlife Refuge: Completion Report

    USGS Publications Warehouse

    Sexton, Natalie R.; Burkardt, Nina; Swann, Margaret Earlene; Stewart, Susan C.

    2009-01-01

    The National Wildlife Refuge System, managed by the U.S. Fish and Wildlife Service (FWS), is the largest system of public lands in the world dedicated to wildlife conservation. There are over 545 national wildlife refuges nationwide, encompassing 95 million acres. As part of the National Wildlife Refuge System Improvement Act of 1997, each refuge is developing 15-year comprehensive conservation plans (CCPs). Each CCP describes a vision and desired future condition for the refuge and outlines goals, objectives, and management strategies for each refuge's habitat and visitor service programs. The CCP process for Canaan Valley National Wildlife Refuge (Refuge) in Davis, West Virginia was initiated in 2006. This planning process provides a unique opportunity for public input and involvement. Public involvement is an important part of the CCP process. Participation by parties with a stake in the resource (stakeholders) has the potential to increase understanding and support and reduce conflicts. Additionally, meaningful public participation in a decision process may increase trust and provide satisfaction in terms of both process and outcome for management and the public. Public meetings are a common way to obtain input from community members, visitors, and potential visitors. An 'Issues Workbook' is another tool the FWS uses to obtain public input and participation early in the planning process. Sometimes, however, these traditional methods do not capture the full range of perspectives that exist. A stakeholder evaluation is a way to more fully understand community preferences and opinions related to key topics in refuge planning. It can also help refuge staff understand how changes in management affect individuals in terms of their preference for services and experiences. Secondarily, a process such as this can address 'social goals' such as fostering trust in regulating agencies and reducing conflict among stakeholders. As part of the CCP planning effort at Canaan

  17. Evaluation of an ensemble of genetic models for prediction of a quantitative trait.

    PubMed

    Milton, Jacqueline N; Steinberg, Martin H; Sebastiani, Paola

    2014-01-01

    Many genetic markers have been shown to be associated with common quantitative traits in genome-wide association studies. Typically these associated genetic markers have small to modest effect sizes and individually they explain only a small amount of the variability of the phenotype. In order to build a genetic prediction model without fitting a multiple linear regression model with possibly hundreds of genetic markers as predictors, researchers often summarize the joint effect of risk alleles into a genetic score that is used as a covariate in the genetic prediction model. However, the prediction accuracy can be highly variable and selecting the optimal number of markers to be included in the genetic score is challenging. In this manuscript we present a strategy to build an ensemble of genetic prediction models from data and we show that the ensemble-based method makes the challenge of choosing the number of genetic markers more amenable. Using simulated data with varying heritability and number of genetic markers, we compare the predictive accuracy and inclusion of true positive and false positive markers of a single genetic prediction model and our proposed ensemble method. The results show that the ensemble of genetic models tends to include a larger number of genetic variants than a single genetic model and it is more likely to include all of the true genetic markers. This increased sensitivity is obtained at the price of a lower specificity that appears to minimally affect the predictive accuracy of the ensemble.

  18. Knowledge of genetic testing for hereditary kidney cancer in Canada is lacking: The results of the Canadian national hereditary kidney cancer needs assessment survey

    PubMed Central

    Violette, Philippe D.; Kamel-Reid, Suzanne; Graham, Gail E.; Reaume, M. Neil; Jewett, Michael A.; Care, Melanie; Basiuk, Joan; Pautler, Stephen E.

    2014-01-01

    Introducton: Treatment of hereditary renal cell carcinoma (HRCC) requires a multidisciplinary approach that may involve medical oncologists, geneticists, genetic counsellors, and urologists. The objective of our survey was to obtain current and representative information about the use and perceived importance of genetic testing for HRCC in Canada. Methods: A self-administered web-based survey was provided to Canadian medical oncologists, geneticists, genetic counsellors, and urologists in collaboration with their respective associations. The survey was created through an iterative process in consultation with the Kidney Cancer Research Network of Canada and contained both quantitative and qualitative components. The survey was designed to be exploratory and results were compared across regions. Results: The overall response was low (6.6%). Of the respondents, 42%, 33%, 19%, 5% were genetic counsellors, urologists, medical oncologists and medical geneticists, respectively. Of the respondents, 62.7% described their practice as academic, and 37.3% described it as non-academic. Non-academic respondents tended to refer for genetic counselling less frequently than academic (48.6% vs. 67.2%). Most respondents believed that genetic testing for HRCC was available (82.8%), although 47.7% did not know which tests were available. This observation was consistent across provinces. Testing for Von Hippel-Lindau syndrome was given the highest priority among respondents. Limited provider knowledge, clinical guidelines, institutional funding, access, and poor coordination between disciplines were cited as barriers to testing. Interpretation: There is a need to increase provider knowledge of genetic testing for HRCC. These findings support the development of practice guidelines and national strategies to improve coordination of specialists and access to genetics services. Limitations of the present study include low survey response which did not allow for inferential analysis by

  19. 77 FR 38840 - Proposed Collection; Comment Request; National Institute of Nursing Research (NINR) Summer...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-06-29

    ... Request; National Institute of Nursing Research (NINR) Summer Genetics Institute Alumni Survey SUMMARY: In.../National Institute of Nursing Research (NINR) Summer Genetics Institute Alumni Survey. Type of Information... Research (NINR), the National Institutes of Health (NIH) will publish periodic summaries of proposed...

  20. Smith Newton Vehicle Performance Evaluation – 4th Quarter 2013; NREL (National Renewable Energy Laboratory)

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    None

    2014-01-01

    The Fleet Test and Evaluation Team at the U.S. Department of Energy's National Renewable Energy Laboratory is evaluating and documenting the performance of electric and plug-in hybrid electric drive systems in medium-duty trucks across the nation. U.S. companies participating in this evaluation project received funding from the American Recovery and Reinvestment Act to cover part of the cost of purchasing these vehicles. Through this project, Smith Electric Vehicles is building and deploying 500 all-electric medium-duty trucks that will be deployed by a variety of companies in diverse climates across the country.

  1. Phenotypic and genetic differentiation among yellow monkeyflower populations from thermal and non-thermal soils in Yellowstone National Park.

    PubMed

    Lekberg, Ylva; Roskilly, Beth; Hendrick, Margaret F; Zabinski, Catherine A; Barr, Camille M; Fishman, Lila

    2012-09-01

    In flowering plants, soil heterogeneity can generate divergent natural selection over fine spatial scales, and thus promote local adaptation in the absence of geographic barriers to gene flow. Here, we investigate phenotypic and genetic differentiation in one of the few flowering plants that thrives in both geothermal and non-thermal soils in Yellowstone National Park (YNP). Yellow monkeyflowers (Mimulus guttatus) growing at two geothermal ("thermal") sites in YNP were distinct in growth form and phenology from paired populations growing nearby (<500 m distant) in non-thermal soils. In simulated thermal and non-thermal environments, thermal plants remained significantly divergent from non-thermal plants in vegetative, floral, mating system, and phenological traits. Plants from both thermal populations flowered closer to the ground, allocated relatively more to sexual reproduction, were more likely to initiate flowering under short daylengths, and made smaller flowers that could efficiently self-fertilize without pollinators. These shared differences are consistent with local adaptation to life in the ephemeral window for growth and reproduction created by winter and spring snowmelt on hot soils. In contrast, habitat type (thermal vs. non-thermal) explained little of the genetic variation at neutral markers. Instead, we found that one thermal population (Agrostis Headquarters; AHQ-T) was strongly differentiated from all other populations (all F (ST) > 0.34), which were only weakly differentiated from each other (all F (ST) < 0.07). Phenotypic differentiation of thermal M. guttatus, but little population genetic evidence of long-term ecotypic divergence, encourages further investigations of the potential for fine-scale adaptation and reproductive isolation across the geothermal gradient in Yellowstone.

  2. A Performance Evaluation of the National Air Quality Forecast Capability for the Summer of 2007

    EPA Science Inventory

    This paper provides a performance evaluation of the real-time, CONUS-scale National Air Quality Forecast Capability (NAQFC), developed collaboratively by the National Oceanic and Atmospheric Administration (NOAA) and Environmental Protection Agency (EPA), that supported, in part,...

  3. Genetic Evaluation for the Scoliosis Gene(s) in Patients with Neurofibromatosis Type I and Scoliosis

    DTIC Science & Technology

    2011-08-01

    AWARD NUMBER: W81XWH-10-1-0469 TITLE: Genetic Evaluation for the Scoliosis Gene(s) in...Patients with Neurofibromatosis Type I and Scoliosis PRINCIPAL INVESTIGATOR: David W. Polly, Jr., M.D. CONTRACTING ORGANIZATION: University...for the Scoliosis Gene(s) in Patients with Neurofibromatosis Type I and Scoliosis 5b. GRANT NUMBER W81XWH-10-1-0469 5c. PROGRAM ELEMENT NUMBER 6

  4. Family history in primary care: understanding GPs' resistance to clinical genetics--qualitative study.

    PubMed

    Mathers, Jonathan; Greenfield, Sheila; Metcalfe, Alison; Cole, Trevor; Flanagan, Sarah; Wilson, Sue

    2010-05-01

    National and local evaluations of clinical genetics service pilots have experienced difficulty in engaging with GPs. To understand GPs' reluctance to engage with clinical genetics service developments, via an examination of the role of family history in general practice. Qualitative study using semi-structured one-to-one interviews. The West Midlands, UK. Interviews with 21 GPs working in 15 practices, based on a stratified random sample from the Midlands Research Practices Consortium database. Thematic analysis proceeded alongside data generation. Framework grids were constructed for comparative analytical questioning. Interpretation was framed by two explanatory models: a knowledge deficit model, and practice and professional identity model. There is a clear distinction between the routine use and function of family history in GPs' clinical decision making, and contrasting conceptualisations of genetics and 'genetic conditions'. Although genetics is clearly a part of current GP practice, with acknowledgement of genetic components to multifactorial disease, this is distinguished from 'genetic conditions' which are seen as rare, complex single-gene disorders. Importantly, family history takes its place within a broader notion of the 'family doctor' that interviewees identified as a key aspect of their role. In contrast, clinical genetics was not identified as a core component of generalist practice. The likely effectiveness of educational policy interventions aimed at GPs that focus solely on knowledge deficit models, is questionable. There is a need to acknowledge how appropriate practice is constructed by GPs, within the context of accepted generalist roles and related identities.

  5. Cancer Genetics and Signaling | Center for Cancer Research

    Cancer.gov

    The Cancer, Genetics, and Signaling (CGS) Group at the National Cancer Institute at Frederick  offers a competitive postdoctoral training and mentoring program focusing on molecular and genetic aspects of cancer. The CGS Fellows Program is designed to attract and train exceptional postdoctoral fellows interested in pursuing independent research career tracks. CGS Fellows

  6. Evaluating ambulatory care training in Firoozgar hospital based on Iranian national standards of undergraduate medical education

    PubMed Central

    Sabzghabaei, Foroogh; Salajeghe, Mahla; Soltani Arabshahi, Seyed Kamran

    2017-01-01

    Background: In this study, ambulatory care training in Firoozgar hospital was evaluated based on Iranian national standards of undergraduate medical education related to ambulatory education using Baldrige Excellence Model. Moreover, some suggestions were offered to promote education quality in the current condition of ambulatory education in Firoozgar hospital and national standards using the gap analysis method. Methods: This descriptive analytic study was a kind of evaluation research performed using the standard check lists published by the office of undergraduate medical education council. Data were collected through surveying documents, interviewing, and observing the processes based on the Baldrige Excellence Model. After confirming the validity and reliability of the check lists, we evaluated the establishment level of the national standards of undergraduate medical education in the clinics of this hospital in the 4 following domains: educational program, evaluation, training and research resources, and faculty members. Data were analyzed according to the national standards of undergraduate medical education related to ambulatory education and the Baldrige table for scoring. Finally, the quality level of the current condition was determined as very appropriate, appropriate, medium, weak, and very weak. Results: In domains of educational program 62%, in evaluation 48%, in training and research resources 46%, in faculty members 68%, and in overall ratio, 56% of the standards were appropriate. Conclusion: The most successful domains were educational program and faculty members, but evaluation and training and research resources domains had a medium performance. Some domains and indicators were determined as weak and their quality needed to be improved, so it is suggested to provide the necessary facilities and improvements by attending to the quality level of the national standards of ambulatory education PMID:29951400

  7. Forest service access to and use of the Germplasm Information Network (GRIN-Global) database and security backup at the National Laboratory for Genetic Resource Preservation

    Treesearch

    B. Loth; R.P. Karrfalt

    2017-01-01

    The U.S. Department of Agriculture Forest Service (USDA FS) National Seed Laboratory (NSL) began long term seed storage for genetic conservation, in 2005, for USDA FS units and cooperators. This program requires secure storage of both seeds and the data documenting the identification of the seeds. The Agricultural Research Service (ARS) has provided both of these...

  8. Emergency preparedness for genetics centers, laboratories, and patients: the Southeast Region Genetics Collaborative strategic plan.

    PubMed

    Andersson, Hans C; Perry, William; Bowdish, Bruce; Floyd-Browning, Phaidra

    2011-10-01

    Emergencies occur unpredictably and interrupt routine genetic care. The events after hurricanes Katrina and Rita have led to the recognition that a coherent plan is necessary to ensure continuity of operations for genetic centers and laboratories, including newborn screening. No geographic region is protected from the effects of a variety of potential emergencies. Regional and national efforts have begun to address the need for such preparedness, but a plan for ensuring continuity of operations by creating an emergency preparedness plan must be developed for each genetic center and laboratory, with attention to the interests of patients. This article describes the first steps in development of an emergency preparedness plan for individual centers.

  9. QUANTITATIVE GENETIC ACTIVITY GRAPHICAL PROFILES FOR USE IN CHEMICAL EVALUATION

    EPA Science Inventory

    A graphic approach termed a Genetic Activity Profile (GAP) has been developed to display a matrix of data on the genetic and related effects of selected chemical agents. he profiles provide a visual overview of the quantitative (doses) and qualitative (test results) data for each...

  10. The Genetic Drift Inventory: A Tool for Measuring What Advanced Undergraduates Have Mastered about Genetic Drift

    ERIC Educational Resources Information Center

    Price, Rebecca M.; Andrews, Tessa C.; McElhinny, Teresa L.; Mead, Louise S.; Abraham, Joel K.; Thanukos, Anna; Perez, Kathryn E.

    2014-01-01

    Understanding genetic drift is crucial for a comprehensive understanding of biology, yet it is difficult to learn because it combines the conceptual challenges of both evolution and randomness. To help assess strategies for teaching genetic drift, we have developed and evaluated the Genetic Drift Inventory (GeDI), a concept inventory that measures…

  11. Evaluation of a 13-loci STR multiplex system for Cannabis sativa genetic identification.

    PubMed

    Houston, Rachel; Birck, Matthew; Hughes-Stamm, Sheree; Gangitano, David

    2016-05-01

    Marijuana (Cannabis sativa) is the most commonly used illicit substance in the USA. The development of a validated method using Cannabis short tandem repeats (STRs) could aid in the individualization of samples as well as serve as an intelligence tool to link multiple cases. For this purpose, a modified 13-loci STR multiplex method was optimized and evaluated according to ISFG and SWGDAM guidelines. A real-time PCR quantification method for C. sativa was developed and validated, and a sequenced allelic ladder was also designed to accurately genotype 199 C. sativa samples from 11 U.S. Customs and Border Protection seizures. Distinguishable DNA profiles were generated from 127 samples that yielded full STR profiles. Four duplicate genotypes within seizures were found. The combined power of discrimination of this multilocus system is 1 in 70 million. The sensitivity of the multiplex STR system is 0.25 ng of template DNA. None of the 13 STR markers cross-reacted with any of the studied species, except for Humulus lupulus (hops) which generated unspecific peaks. Phylogenetic analysis and case-to-case pairwise comparison of 11 cases using F st as genetic distance revealed the genetic association of four groups of cases. Moreover, due to their genetic similarity, a subset of samples (N = 97) was found to form a homogeneous population in Hardy-Weinberg and linkage equilibrium. The results of this research demonstrate the applicability of this 13-loci STR system in associating Cannabis cases for intelligence purposes.

  12. Genetics in primary health care and the National Policy on Comprehensive Care for People with Rare Diseases in Brazil: opportunities and challenges for professional education.

    PubMed

    Melo, Débora Gusmão; de Paula, Pamela Karen; de Araujo Rodrigues, Stephania; da Silva de Avó, Lucimar Retto; Germano, Carla Maria Ramos; Demarzo, Marcelo Marcos Piva

    2015-07-01

    As discoveries regarding the genetic contribution to disease have grown rapidly, health care professionals are expected to incorporate genetic and genomic perspectives into health education and practice. Genetic competencies common to all health professionals have been identified by the US National Coalition for Health Professional Education in Genetics (NCHPEG), which defined the knowledge, skills, and attitudes required to achieve these competencies. The aim of this study is to analyze genetic competencies of primary health care professionals in Brazil. It is a descriptive survey study, whereby doctors, nurses, and dentists were invited to participate by answering a questionnaire including 11 issues based on competencies established by the NCHPEG. Data were presented as percentages. Differences between groups of participants were assessed by the Fisher exact test, with the level of significance set at p < 0.05. Results showed that concerning knowledge, about 80 % of the participants recognized basic genetics terminology, but practitioners had difficulty in identifying patterns of inheritance. Regarding clinical skills, practitioners were able to recognize facial dysmorphias and identify situations where referral of patients to specialists was necessary. Nevertheless, there were challenges in the process of valuing and gathering information about family history. Regarding attitudes, 68.9 % of the participants thought about the comprehensiveness of care but faced challenges in counselling parents. The results of this study may contribute to developing an ongoing education program for primary health care professionals, leading to a strategy to overcome the challenges of including genetics in the Brazilian Unified Health System.

  13. National Lipid Association Annual Summary of Clinical Lipidology 2015.

    PubMed

    Bays, Harold E; Jones, Peter H; Brown, W Virgil; Jacobson, Terry A

    2014-01-01

    The National Lipid Association (NLA) Annual Summary of Clinical Lipidology 2015 is a summary of principles important to the patient-centered evaluation, management, and care of patients with dyslipidemia. This summary is intended to be a "living document," with future annual updates based on emerging science, clinical considerations, and new NLA Position and Consensus Statements. The goal is to provide clinicians an ongoing resource that translates the latest advances in medical science toward the evaluation and treatment of patients with dyslipidemia. The 2015 NLA Annual Summary of Clinical Lipidology was founded on the principles of evidence-based medicine and is generally consistent with established national and international lipid guidelines. Topics include a general discussion of the 2014 NLA Recommendations for Patient-Centered Management of Dyslipidemia, genetics, secondary causes of dyslipidemia, biomarkers and "advanced lipid testing," medical nutrition, physical activity, obesity, pharmacotherapy, statin safety, lipid-altering drug interactions, lipoprotein apheresis, dyslipidemia in children and adolescence, dyslipidemia in older individuals, race/ethnicity, and women, health information technology and electronic medical records, as well as investigational lipid-altering drugs in development. Copyright © 2014 National Lipid Association. All rights reserved.

  14. Application of genetic algorithm in the evaluation of the profile error of archimedes helicoid surface

    NASA Astrophysics Data System (ADS)

    Zhu, Lianqing; Chen, Yunfang; Chen, Qingshan; Meng, Hao

    2011-05-01

    According to minimum zone condition, a method for evaluating the profile error of Archimedes helicoid surface based on Genetic Algorithm (GA) is proposed. The mathematic model of the surface is provided and the unknown parameters in the equation of surface are acquired through least square method. Principle of GA is explained. Then, the profile error of Archimedes Helicoid surface is obtained through GA optimization method. To validate the proposed method, the profile error of an Archimedes helicoid surface, Archimedes Cylindrical worm (ZA worm) surface, is evaluated. The results show that the proposed method is capable of correctly evaluating the profile error of Archimedes helicoid surface and satisfy the evaluation standard of the Minimum Zone Method. It can be applied to deal with the measured data of profile error of complex surface obtained by three coordinate measurement machines (CMM).

  15. Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes

    PubMed Central

    2010-01-01

    Many private companies offer direct-to-consumer (DTC) genetic testing services. Some tests may detect severe and highly penetrant monogenic disorders, while other tests are for genetic variants found associated with increased susceptibility for common and complex diseases in large-scale population studies. Through its Public and Professional Policy committee followed by member and expert consultation, the European Society of Human Genetics has developed the following policy on advertising and provision of predictive genetic tests by such DTC companies: (1) clinical utility of a genetic test shall be an essential criterion for deciding to offer this test to a person or a group of persons; (2) laboratories providing genetic tests should comply with accepted quality standards, including those regarding laboratory personnel qualifications; (3) information about the purpose and appropriateness of testing should be given before the test is done; (4) genetic counselling appropriate to the type of test and disease should be offered; and for some tests psychosocial evaluation and follow-up should be available; (5) privacy and confidentiality of sensitive genetic information should be secured and the data safely guarded; (6) special measures should be taken to avoid inappropriate testing of minors and other legally incapacitated persons; (7) all claims regarding genetic tests should be transparent; advertisement should be unbiased and marketing of genetic tests should be fair; (8) in biomedical research, health care and marketing, respect should be given to relevant ethical principles, as well as international treaties and recommendations regarding genetic testing; and (9) nationally approved guidelines considering all the above-mentioned aspects should be made and followed. PMID:20736974

  16. A Model and Method of Evaluative Accounts: Development Impact of the National Literacy Mission (NLM of India).

    ERIC Educational Resources Information Center

    Bhola, H. S.

    2002-01-01

    Studied the developmental impact of the National Literacy Mission of India, providing an evaluative account based on 97 evaluation studies. Compared findings with those from a 27-study synthesis of studies of effects of adult literacy efforts in Africa. Findings show the impact of literacy on the development of nations. (SLD)

  17. 78 FR 26396 - Proposed Collection; Comments Requested: FBI National Academy Level 1 Evaluation: Student Course...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-05-06

    ... Academy Level 1 Evaluation: Student Course Questionnaire and FBI National Academy: General Remarks Questionnaire ACTION: 30-Day Notice. The Department of Justice (DOJ), Federal Bureau of Investigation (FBI...: Student Course Questionnaire. FBI National Academy: General Remarks Questionnaire. 3. Agency Form Number...

  18. Utility of Genetic Testing in Elite Volleyball Players with Aortic Root Dilation.

    PubMed

    Herrick, Nicole; Davis, Christopher; Vargas, Lisa; Dietz, Hal; Grossfeld, Paul

    2017-07-01

    Basketball and volleyball attract individuals with a characteristic biophysical profile, mimicking features of Marfan syndrome. Consequently, identification of these abnormalities can be lifesaving. To determine how physical examination, echocardiography, and genetic screening can identify elite volleyball players with a previously undiagnosed aortopathy. We have performed cardiac screening on 90 US Volleyball National Team members and identified four individuals with dilated sinuses of Valsalva. This case series reports on three individuals who underwent a comprehensive genetics evaluation, including gene sequencing. Cardiac screening combined with genetic testing can identify previously undiagnosed tall athletes with an aortopathy, in the absence of noncardiac findings of a connective tissue disorder. Subject 1 had a revised Ghent systems (RGS) score of 2 and a normal aortopathy gene panel. Subject 2 had a RGS score of 1 and genetic testing revealed a de novo disease causing mutation in the gene encoding fibrillin-1 (FBN1). Subject 3 had an RGS score of 4.0 and had a normal aortopathy gene panel. Despite variable clinical features of Marfan syndrome, dilated sinuses of Valsalva were found in 4.9% of the athletes. A disease-causing mutation in the FBN1 gene was identified in subject 2, who had the lowest RGS but the largest aortic root measurement. Subjects 1 and 3, with the highest RGS, had a normal aortopathy gene panel. Our findings provide further evidence suggesting that a cardiac evaluation, including a screening echocardiogram, should be performed on all elite tall adult athletes independent of other physical findings. Genetic testing should be considered for athletes with dilated sinuses of Valsalva (male, >4.2 cm; female, >3.4 cm), regardless of other extracardiac findings.

  19. The fewer and the better: prioritization of populations for conservation under limited resources, a genetic study with Borderea pyrenaica (Dioscoreaceae) in the Pyrenean National Park.

    PubMed

    Segarra-Moragues, J G; Catalán, P

    2010-03-01

    Taxa considered under low International Union for the Conservation of Nature categories of extinction risk often represent cases of concern to conservation biology. Their high relative abundance precludes management of the entire range due to limited economical resources. Therefore, they require a cost-effective management plan. Borderea pyrenaica (Dioscoreaceae), an endemic plant of the Central Pyrenees and pre-Pyrenees, reaches the French side of the Central Pyrenees on its narrow northernmost boundary at Gavarnie (Parc National des Pyrenées, PNP, France), where it is protected as Vulnerable and considered a priority species. We have used nuclear microsatellite population genetic data to design a management strategy for the 11 populations of B. pyrenaica present in this area and to identify Relevant Genetic Units for its Conservation. The 18 SSR loci analysed identified 56 alleles, 24 of which fulfilled the rarity criterion for this set of populations. Genetic structuring of populations and representativity values derived from regression analyses of probabilities of loss of rare alleles together support differentiation of the B. pyrenaica populations into different management units. Estimates derived from G(ST) values indicate that five populations would adequately represent the 99.9% of the variation relative to most common alleles whereas calculations based on representativity values indicated that these five populations should equate the proportion 2:2:1 from the three different phylogeographical subdivisions of Gavarnie (Western, Eastern-1 and Eastern-2 ranges). This scheme would allow the preservation of 98.21% of the total B. pyrenaica alleles present in Gavarnie, according to the post glacial history of its populations. This conservation genetic approach could be applied to other low-extinction risk categories of extremely rare and subalpine plants in need of regulatory plans in European National Parks and Natural Reserves.

  20. Evaluating noninvasive genetic sampling techniques to estimate large carnivore abundance.

    PubMed

    Mumma, Matthew A; Zieminski, Chris; Fuller, Todd K; Mahoney, Shane P; Waits, Lisette P

    2015-09-01

    Monitoring large carnivores is difficult because of intrinsically low densities and can be dangerous if physical capture is required. Noninvasive genetic sampling (NGS) is a safe and cost-effective alternative to physical capture. We evaluated the utility of two NGS methods (scat detection dogs and hair sampling) to obtain genetic samples for abundance estimation of coyotes, black bears and Canada lynx in three areas of Newfoundland, Canada. We calculated abundance estimates using program capwire, compared sampling costs, and the cost/sample for each method relative to species and study site, and performed simulations to determine the sampling intensity necessary to achieve abundance estimates with coefficients of variation (CV) of <10%. Scat sampling was effective for both coyotes and bears and hair snags effectively sampled bears in two of three study sites. Rub pads were ineffective in sampling coyotes and lynx. The precision of abundance estimates was dependent upon the number of captures/individual. Our simulations suggested that ~3.4 captures/individual will result in a < 10% CV for abundance estimates when populations are small (23-39), but fewer captures/individual may be sufficient for larger populations. We found scat sampling was more cost-effective for sampling multiple species, but suggest that hair sampling may be less expensive at study sites with limited road access for bears. Given the dependence of sampling scheme on species and study site, the optimal sampling scheme is likely to be study-specific warranting pilot studies in most circumstances. © 2015 John Wiley & Sons Ltd.

  1. Genetic diversity in intraspecific hybrid populations of Eucommia ulmoides Oliver evaluated from ISSR and SRAP molecular marker analysis.

    PubMed

    Yu, J; Wang, Y; Ru, M; Peng, L; Liang, Z S

    2015-07-03

    Eucommia ulmoides Oliver, the only extant species of Eucommiaceae, is a second-category state-protected endangered plant in China. Evaluation of genetic diversity among some intraspecific hybrid populations of E. ulmoides Oliver is vital for breeding programs and further conservation of this rare species. We studied the genetic diversity of 130 accessions from 13 E. ulmoides intraspecific hybrid populations using inter-simple sequence related (ISSR) and sequence-related amplified polymorphism (SRAP) markers. Of the 100 ISSR primers and 100 SRAP primer combinations screened, eight ISSRs and eight SRAPs were used to evaluate the level of polymorphism and discriminating capacity. A total number of 65 bands were amplified using eight ISSR primers, in which 50 bands (76.9%) were polymorphic, with an average of 8.1 polymorphic fragments per primer. Alternatively, another 244 bands were observed using eight SRAP primer combinations, and 163 (66.8%) of them were polymorphic, with an average of 30.5 polymorphic fragments per primer. The unweighted pair-group method (UPGMA) analysis showed that these 13 populations could be classified into three groups by the ISSR marker and two groups by the SRAP marker. Principal coordinate analysis using SRAP was completely identical to the UPGMA-based clustering, although this was partly confirmed by the results of UPGMA cluster analysis using the ISSR marker. This study provides insights into the genetic background of E. ulmoides intraspecific hybrids. The progenies of the variations "Huazhong-3", "big fruit", "Yanci", and "smooth bark" present high genetic diversity and offer great potential for E. ulmoides breeding and conservation.

  2. Evaluation of the Endorsement of the STrengthening the REporting of Genetic Association Studies (STREGA) Statement on the Reporting Quality of Published Genetic Association Studies

    PubMed Central

    Nedovic, Darko; Panic, Nikola; Pastorino, Roberta; Ricciardi, Walter; Boccia, Stefania

    2016-01-01

    The STrengthening the REporting of Genetic Association studies (STREGA) statement was based on the STrengthening the REporting of OBservational studies in Epidemiology (STROBE) statement, and it was published in 2009 in order to improve the reporting of genetic association (GA) studies. Our aim was to evaluate the impact of STREGA endorsement on the quality of reporting of GA studies published in journals in the field of genetics and heredity (GH). Quality of reporting was evaluated by assessing the adherence of papers to the STREGA checklist. After identifying the GH journals that endorsed STREGA in their instructions for authors, we randomly appraised papers published in 2013 from journals endorsing STREGA that published GA studies (Group A); in GH journals that never endorsed STREGA (Group B); in GH journals endorsing STREGA, but in the year preceding its endorsement (Group C); and in the same time period as Group C from GH journals that never endorsed STREGA (Group D). The STREGA statement was referenced in 29 (18.1%) of 160 GH journals, of which 18 (62.1%) journals published GA studies. Among the 18 journals endorsing STREGA, we found a significant increase in the overall adherence to the STREGA checklist over time (A vs C; P < 0.0001). Adherence to the STREGA checklist was significantly higher in journals endorsing STREGA compared to those that did not endorse the statement (A vs B; P = 0.04). No significant improvement was detected in the adherence to STREGA items in journals not endorsing STREGA over time (B vs D; P > 0.05). The endorsement of STREGA resulted in an increase in quality of reporting of GA studies over time, while no similar improvement was reported for journals that never endorsed STREGA. PMID:27349199

  3. The Evaluation of the National Long Term Care Demonstration: Final Report. Executive Summary.

    ERIC Educational Resources Information Center

    Mathematica Policy Research, Inc., Plainsboro, NJ.

    This report describes the evaluation of the National Long-Term Care (Channeling) Demonstration, a rigorous test of comprehensive case management of community care as a way of containing long-term care costs for the impaired elderly while providing adequate care to those in need. The evaluation process is presented as an experimental design with…

  4. Using microarray analysis to evaluate genetic polymorphisms involved in the metabolism of environmental chemicals.

    PubMed

    Ban, Susumu; Kondo, Tomoko; Ishizuka, Mayumi; Sasaki, Seiko; Konishi, Kanae; Washino, Noriaki; Fujita, Syoichi; Kishi, Reiko

    2007-05-01

    The field of molecular biology currently faces the need for a comprehensive method of evaluating individual differences derived from genetic variation in the form of single nucleotide polymorphisms (SNPs). SNPs in human genes are generally considered to be very useful in determining inherited genetic disorders, susceptibility to certain diseases, and cancer predisposition. Quick and accurate discrimination of SNPs is the key characteristic of technology used in DNA diagnostics. For this study, we first developed a DNA microarray and then evaluated its efficacy by determining the detection ability and validity of this method. Using DNA obtained from 380 pregnant Japanese women, we examined 13 polymorphisms of 9 genes, which are associated with the metabolism of environmental chemical compounds found in high frequency among Japanese populations. The ability to detect CYP1A1 I462V, CYP1B1 L432V, GSTP1 I105V and AhR R554K gene polymorphisms was above 98%, and agreement rates when compared with real time PCR analysis methods (kappa values) showed high validity: 0.98 (0.96), 0.97 (0.93), 0.90 (0.81), 0.90 (0.91), respectively. While this DNA microarray analysis should prove important as a method for initial screening, it is still necessary that we find better methods for improving the detection of other gene polymorphisms not part of this study.

  5. Reports on investigations of uranium anomalies. National Uranium Resource Evaluation

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Goodknight, C.S.; Burger, J.A.

    1982-10-01

    During the National Uranium Resource Evaluation (NURE) program, conducted for the US Department of Energy (DOE) by Bendix Field Engineering Corporation (BFEC), radiometric and geochemical surveys and geologic investigations detected anomalies indicative of possible uranium enrichment. Data from the Aerial Radiometric and Magnetic Survey (ARMS) and the Hydrogeochemical and Stream-Sediment Reconnaissance (HSSR), both of which were conducted on a national scale, yielded numerous anomalies that may signal areas favorable for the occurrence of uranium deposits. Results from geologic evaluations of individual 1/sup 0/ x 2/sup 0/ quadrangles for the NURE program also yielded anomalies, which could not be adequately checkedmore » during scheduled field work. Included in this volume are individual reports of field investigations for the following six areas which were shown on the basis of ARMS, HSSR, and (or) geologic data to be anomalous: (1) Hylas zone and northern Richmond basin, Virginia; (2) Sischu Creek area, Alaska; (3) Goodman-Dunbar area, Wisconsin; (4) McCaslin syncline, Wisconsin; (5) Mt. Withington Cauldron, Socorro County, New Mexico; (6) Lake Tecopa, Inyo County, California. Field checks were conducted in each case to verify an indicated anomalous condition and to determine the nature of materials causing the anomaly. The ultimate objective of work is to determine whether favorable conditions exist for the occurrence of uranium deposits in areas that either had not been previously evaluated or were evaluated before data from recent surveys were available. Most field checks were of short duration (2 to 5 days). The work was done by various investigators using different procedures, which accounts for variations in format in their reports. All papers have been abstracted and indexed.« less

  6. The Genetic Counseling Video Project (GCVP): Models of Practice

    PubMed Central

    Roter, D.; Ellington, L.; Erby, L. Hamby; Larson, S.; W, Dudley

    2009-01-01

    Genetic counseling is conceptualized as having both “teaching” and “counseling” functions; however, little is known about how these functions are articulated in routine practice. This study addresses the question by documenting, on videotape, the practices of a national sample of prenatal and cancer genetic counselors (GCs) providing routine pretest counseling to simulated clients (SCs). 177 GCs recruited at two annual conferences of the National Society of Genetic Counselors (NSGC) were randomly assigned to counsel one of six female SCs of varying ethnicity, with or without a spouse, in their specialty. 152 videotapes were coded with the Roter Interaction Analysis System (RIAS) and both GCs and SCs completed evaluative questionnaires. Two teaching and two counseling patterns of practice emerged from cluster analysis. The teaching patterns included: (1) Clinical teaching (31%) characterized by low psychosocial, emotional and facilitative talk, high levels of clinical exchange, and high verbal dominance; and (2) Psycho-educational teaching (27%) characterized by high levels of both clinical and psychosocial exchange, low levels of emotional and facilitative talk, and higher verbal dominance. The counseling patterns included: (1) Supportive counseling (33%) characterized by low psychosocial and clinical exchange, high levels of emotional and facilitative talk, and low verbal dominance; and (2) Psychosocial counseling (9%) with high emotional and facilitative talk, low clinical and high psychosocial exchange, and the lowest verbal dominance. SCs ratings of satisfaction with communication, the counselor’s affective demeanor, and the counselor’s use of nonverbal skills were highest for the counseling model sessions. Both the teaching and counseling models seem to be represented in routine practice and predict variation in client satisfaction. PMID:16941666

  7. Estimating grizzly and black bear population abundance and trend in Banff National Park using noninvasive genetic sampling.

    PubMed

    Sawaya, Michael A; Stetz, Jeffrey B; Clevenger, Anthony P; Gibeau, Michael L; Kalinowski, Steven T

    2012-01-01

    We evaluated the potential of two noninvasive genetic sampling methods, hair traps and bear rub surveys, to estimate population abundance and trend of grizzly (Ursus arctos) and black bear (U. americanus) populations in Banff National Park, Alberta, Canada. Using Huggins closed population mark-recapture models, we obtained the first precise abundance estimates for grizzly bears (N= 73.5, 95% CI = 64-94 in 2006; N= 50.4, 95% CI = 49-59 in 2008) and black bears (N= 62.6, 95% CI = 51-89 in 2006; N= 81.8, 95% CI = 72-102 in 2008) in the Bow Valley. Hair traps had high detection rates for female grizzlies, and male and female black bears, but extremely low detection rates for male grizzlies. Conversely, bear rubs had high detection rates for male and female grizzlies, but low rates for black bears. We estimated realized population growth rates, lambda, for grizzly bear males (λ= 0.93, 95% CI = 0.74-1.17) and females (λ= 0.90, 95% CI = 0.67-1.20) using Pradel open population models with three years of bear rub data. Lambda estimates are supported by abundance estimates from combined hair trap/bear rub closed population models and are consistent with a system that is likely driven by high levels of human-caused mortality. Our results suggest that bear rub surveys would provide an efficient and powerful means to inventory and monitor grizzly bear populations in the Central Canadian Rocky Mountains.

  8. Estimating Grizzly and Black Bear Population Abundance and Trend in Banff National Park Using Noninvasive Genetic Sampling

    PubMed Central

    Sawaya, Michael A.; Stetz, Jeffrey B.; Clevenger, Anthony P.; Gibeau, Michael L.; Kalinowski, Steven T.

    2012-01-01

    We evaluated the potential of two noninvasive genetic sampling methods, hair traps and bear rub surveys, to estimate population abundance and trend of grizzly (Ursus arctos) and black bear (U. americanus) populations in Banff National Park, Alberta, Canada. Using Huggins closed population mark-recapture models, we obtained the first precise abundance estimates for grizzly bears ( = 73.5, 95% CI = 64–94 in 2006;  = 50.4, 95% CI = 49–59 in 2008) and black bears ( = 62.6, 95% CI = 51–89 in 2006;  = 81.8, 95% CI = 72–102 in 2008) in the Bow Valley. Hair traps had high detection rates for female grizzlies, and male and female black bears, but extremely low detection rates for male grizzlies. Conversely, bear rubs had high detection rates for male and female grizzlies, but low rates for black bears. We estimated realized population growth rates, lambda, for grizzly bear males ( = 0.93, 95% CI = 0.74–1.17) and females ( = 0.90, 95% CI = 0.67–1.20) using Pradel open population models with three years of bear rub data. Lambda estimates are supported by abundance estimates from combined hair trap/bear rub closed population models and are consistent with a system that is likely driven by high levels of human-caused mortality. Our results suggest that bear rub surveys would provide an efficient and powerful means to inventory and monitor grizzly bear populations in the Central Canadian Rocky Mountains. PMID:22567089

  9. Genetic differences based on a beef terminal index are reflected in future phenotypic performance differences in commercial beef cattle.

    PubMed

    Connolly, S M; Cromie, A R; Berry, D P

    2016-05-01

    The increased demand for animal-derived protein and energy for human consumption will have to be achieved through a combination of improved animal genetic merit and better management strategies. The objective of the present study was to quantify whether differences in genetic merit among animals materialised into phenotypic differences in commercial herds. Carcass phenotypes on 156 864 animals from 7301 finishing herds were used, which included carcass weight (kg), carcass conformation score (scale 1 to 15), carcass fat score (scale 1 to 15) at slaughter as well as carcass price. The price per kilogram and the total carcass value that the producer received for the animal at slaughter was also used. A terminal index, calculated in the national genetic evaluations, was obtained for each animal. The index was based on pedigree index for calving performance, feed intake and carcass traits from the national genetic evaluations. Animals were categorised into four terminal index groups on the basis of genetic merit estimates that were derived before the expression of the phenotypic information by the validation animals. The association between terminal index and phenotypic performance at slaughter was undertaken using mixed models; whether the association differed by gender (i.e. young bulls, steers and heifers) or by early life experiences (animals born in a dairy herd or beef herd) was also investigated. The regression coefficient of phenotypic carcass weight, carcass conformation and carcass fat on their respective estimated breeding values (EBVs) was 0.92 kg, 1.08 units and 0.79 units, respectively, which is close to the expectation of one. Relative to animals in the lowest genetic merit group, animals in the highest genetic merit group had, on average, a 38.7 kg heavier carcass, with 2.21 units greater carcass conformation, and 0.82 units less fat. The superior genetic merit animals were, on average, slaughtered 6 days younger than their inferior genetic merit

  10. National human genome projects: an update and an agenda.

    PubMed

    An, Joon Yong

    2017-01-01

    Population genetic and human genetic studies are being accelerated with genome technology and data sharing. Accordingly, in the past 10 years, several countries have initiated genetic research using genome technology and identified the genetic architecture of the ethnic groups living in the corresponding country or suggested the genetic foundation of a social phenomenon. Genetic research has been conducted from epidemiological studies that previously described the health or disease conditions in defined population. This perspective summarizes national genome projects conducted in the past 10 years and introduces case studies to utilize genomic data in genetic research.

  11. Forest genetic monitoring: an overview of concepts and definitions.

    PubMed

    Fussi, Barbara; Westergren, Marjana; Aravanopoulos, Filippos; Baier, Roland; Kavaliauskas, Darius; Finzgar, Domen; Alizoti, Paraskevi; Bozic, Gregor; Avramidou, Evangelia; Konnert, Monika; Kraigher, Hojka

    2016-08-01

    Safeguarding sustainability of forest ecosystems with their habitat variability and all their functions is of highest priority. Therefore, the long-term adaptability of forest ecosystems to a changing environment must be secured, e.g., through sustainable forest management. High adaptability is based on biological variation starting at the genetic level. Thus, the ultimate goal of the Convention on Biological Diversity (CBD) to halt the ongoing erosion of biological variation is of utmost importance for forest ecosystem functioning and sustainability. Monitoring of biological diversity over time is needed to detect changes that threaten these biological resources. Genetic variation, as an integral part of biological diversity, needs special attention, and its monitoring can ensure its effective conservation. We compare forest genetic monitoring to other biodiversity monitoring concepts. Forest genetic monitoring (FGM) enables early detection of potentially harmful changes of forest adaptability before these appear at higher biodiversity levels (e.g., species or ecosystem diversity) and can improve the sustainability of applied forest management practices and direct further research. Theoretical genetic monitoring concepts developed up to now need to be evaluated before being implemented on a national and international scale. This article provides an overview of FGM concepts and definitions, discusses their advantages and disadvantages, and provides a flow chart of the steps needed for the optimization and implementation of FGM. FGM is an important module of biodiversity monitoring, and we define an effective FGM scheme as consisting of an assessment of a forest population's capacity to survive, reproduce, and persist under rapid environmental changes on a long-term scale.

  12. Evaluation of a national quality use of medicines service in Australia: an evolving model.

    PubMed

    Beilby, Justin; Wutzke, Sonia E; Bowman, Jenny; Mackson, Judith M; Weekes, Lynn M

    2006-04-01

    To describe the first phase of a global evaluation framework for the National Prescribing Service (NPS), with a focus on services for health professionals, and in particular highlight the lessons learnt from evaluation around the establishment and implementation of this national program. The agreed evaluation framework used mixed methods focused around a series of evaluation questions, aimed at measuring the overall effect of this new organization as well as the individual programs within it. The evaluation questions were determined a priori and were based on the objectives established by the organization in its first year of operation. A detailed analyses has been completed of: the process, scope and reach of program delivery using both quantitative and qualitative measures; changes in attitudes and knowledge measured through key informant interviews and surveys of professional groups and consumers; and changes in prescribing behaviour and savings to the Pharmaceutical Benefits Scheme (PBS) through analysis of prescription data. The evaluation period for this report was mid-1998 to mid-2004. The NPS has successfully implemented a complex, multi-faceted program across Australia. From 1998 to 2004, in addition to print material provided to all general practitioners (GPs) and pharmacists, 90% of all GPs have been actively involved in one or more educational activity; 116 of 120 divisions of general practice have coordinated local NPS programs; and 9% of pharmacists have actively participated in at least one educational activity. Sixty per cent of GPs and pharmacists rated the printed educational materials as good or very good. In the last three years, the NPS activities have generated savings in the range of $121-163 million to the PBS, owing to changes in prescribing practices. The national evaluation framework has informed program delivery and ongoing design and development. Continued refinement of existing evaluation methods and further exploration of new

  13. Evaluation of a Diverse, Worldwide Collection of Wild, Cultivated, and Landrace Pepper (Capsicum annuum) for Resistance to Phytophthora Fruit Rot, Genetic Diversity, and Population Structure.

    PubMed

    Naegele, R P; Tomlinson, A J; Hausbeck, M K

    2015-01-01

    Pepper is the third most important solanaceous crop in the United States and fourth most important worldwide. To identify sources of resistance for commercial breeding, 170 pepper genotypes from five continents and 45 countries were evaluated for Phytophthora fruit rot resistance using two isolates of Phytophthora capsici. Genetic diversity and population structure were assessed on a subset of 157 genotypes using 23 polymorphic simple sequence repeats. Partial resistance and isolate-specific interactions were identified in the population at both 3 and 5 days postinoculation (dpi). Plant introductions (PIs) 640833 and 566811 were the most resistant lines evaluated at 5 dpi to isolates 12889 and OP97, with mean lesion areas less than Criollo de Morelos. Genetic diversity was moderate (0.44) in the population. The program STRUCTURE inferred four genetic clusters with moderate to very great differentiation among clusters. Most lines evaluated were susceptible or moderately susceptible at 5 dpi, and no lines evaluated were completely resistant to Phytophthora fruit rot. Significant population structure was detected when pepper varieties were grouped by predefined categories of disease resistance, continent, and country of origin. Moderately resistant or resistant PIs to both isolates of P. capsici at 5 dpi were in genetic clusters one and two.

  14. Loss of genetic diversity and inbreeding in Kashmir red deer (Cervus elaphus hanglu) of Dachigam National Park, Jammu & Kashmir, India

    PubMed Central

    2013-01-01

    Background Hangul (Cervus elaphus hanglu), the eastern most subspecies of red deer, is now confined only to the mountains in the Kashmir region of Jammu & Kashmir State of India. It is of great conservation significance as this is the last and only hope for Asiatic survivor of the red deer species in India. Wild population of free ranging hangul deer inhabiting in and around Dachigam National Park was genetically assessed in order to account for constitutive genetic attributes of hangul population using microsatellite markers. Results In a pool of 36 multi-locus genotypes, 30 unique individuals were identified based on six microsatellite loci. The estimated cumulative probability of identity assuming all individuals were siblings (PID sibs) was 0.009 (9 in 1000). Altogether, 49 different alleles were observed with mean (± s.e.) allelic number of 8.17 ± 1.05, ranging from 5 to 11 per locus. The observed heterozygosity ranged between 0.08 and 0.83, with mean 0.40 ± 0.11 and the inbreeding coefficient ranged between −0.04 and 0.87 with mean 0.38 ± 0.15. Majority of loci (5/6) were found to be informative (PIC value > 0.5). All loci deviated from Hardy-Weinberg equilibrium except Ca-38 (P > 0.05) and none of the pairs of loci showed significant linkage disequilibrium except the single pair of Ca-30 and Ca-43 (P < 0.05). Conclusions The preliminary findings revealed that hangul population is significantly inbred and exhibited a low genetic diversity in comparison to other deer populations of the world. We suggest prioritizing the potential individuals retaining high heterozygosity for ex situ conservation and genetic monitoring of the hangul population should be initiated covering the entire distribution range to ensure the long term survival of hangul. We speculate further ignoring genetics attributes may lead to a detrimental effect which can negatively influence the reproductive fitness and survivorship of the hangul population in the

  15. Dynamic traffic assignment : genetic algorithms approach

    DOT National Transportation Integrated Search

    1997-01-01

    Real-time route guidance is a promising approach to alleviating congestion on the nations highways. A dynamic traffic assignment model is central to the development of guidance strategies. The artificial intelligence technique of genetic algorithm...

  16. Descriptive survey of Summer Genetics Institute nurse graduates in the USA.

    PubMed

    Hickey, Kathleen T; Sciacca, Robert R; McCarthy, Mary S

    2013-03-01

    The purpose of this study was to describe the clinical, research, educational, and professional activities that nurses are engaged in following participation in a 2 month intramural genetics training program. An online survey was administered in 2010 to graduates of the program sponsored by the US National Institute of Nursing Research from 2000 to 2009, in Bethesda, Maryland, USA. The electronic, voluntary survey was sent to 189 graduates via email. The survey included demographic characteristics, educational preparation, professional roles and responsibilities, and attitudes about genetic testing and privacy issues. Of the 95 graduates responding to the survey, 74% had doctorates and 70% were advanced practice nurses. All respondents reported incorporating genetics knowledge into daily clinical, academic, or research practices since completing the program, with 72% reporting being involved in genetically-focused research (52% with research funding), 32% incorporating genetics into patient care, and 79% providing genetics education. Respondents working in a hospital setting or academic institution were more likely to desire additional training in genetics. National Institute of Nursing Research graduates have successfully integrated genomics into a variety of nursing practices. © 2012 Wiley Publishing Asia Pty Ltd.

  17. Application of a hybrid model of neural networks and genetic algorithms to evaluate landslide susceptibility

    NASA Astrophysics Data System (ADS)

    Wang, H. B.; Li, J. W.; Zhou, B.; Yuan, Z. Q.; Chen, Y. P.

    2013-03-01

    In the last few decades, the development of Geographical Information Systems (GIS) technology has provided a method for the evaluation of landslide susceptibility and hazard. Slope units were found to be appropriate for the fundamental morphological elements in landslide susceptibility evaluation. Following the DEM construction in a loess area susceptible to landslides, the direct-reverse DEM technology was employed to generate 216 slope units in the studied area. After a detailed investigation, the landslide inventory was mapped in which 39 landslides, including paleo-landslides, old landslides and recent landslides, were present. Of the 216 slope units, 123 involved landslides. To analyze the mechanism of these landslides, six environmental factors were selected to evaluate landslide occurrence: slope angle, aspect, the height and shape of the slope, distance to river and human activities. These factors were extracted in terms of the slope unit within the ArcGIS software. The spatial analysis demonstrates that most of the landslides are located on convex slopes at an elevation of 100-150 m with slope angles from 135°-225° and 40°-60°. Landslide occurrence was then checked according to these environmental factors using an artificial neural network with back propagation, optimized by genetic algorithms. A dataset of 120 slope units was chosen for training the neural network model, i.e., 80 units with landslide presence and 40 units without landslide presence. The parameters of genetic algorithms and neural networks were then set: population size of 100, crossover probability of 0.65, mutation probability of 0.01, momentum factor of 0.60, learning rate of 0.7, max learning number of 10 000, and target error of 0.000001. After training on the datasets, the susceptibility of landslides was mapped for the land-use plan and hazard mitigation. Comparing the susceptibility map with landslide inventory, it was noted that the prediction accuracy of landslide occurrence

  18. Genetics Home Reference: N-acetylglutamate synthase deficiency

    MedlinePlus

    ... Hyperammonemia due to N-acetylglutamate synthase deficiency Screening, Technology and Research in Genetics Patient Support and Advocacy Resources (4 links) Children Living with Inherited Metabolic Diseases National Organization for ...

  19. Partitioning the Genetic Diversity of a Virus Family: Approach and Evaluation through a Case Study of Picornaviruses

    PubMed Central

    Lauber, Chris

    2012-01-01

    The recent advent of genome sequences as the only source available to classify many newly discovered viruses challenges the development of virus taxonomy by expert virologists who traditionally rely on extensive virus characterization. In this proof-of-principle study, we address this issue by presenting a computational approach (DEmARC) to classify viruses of a family into groups at hierarchical levels using a sole criterion—intervirus genetic divergence. To quantify genetic divergence, we used pairwise evolutionary distances (PEDs) estimated by maximum likelihood inference on a multiple alignment of family-wide conserved proteins. PEDs were calculated for all virus pairs, and the resulting distribution was modeled via a mixture of probability density functions. The model enables the quantitative inference of regions of distance discontinuity in the family-wide PED distribution, which define the levels of hierarchy. For each level, a limit on genetic divergence, below which two viruses join the same group, was objectively selected among a set of candidates by minimizing violations of intragroup PEDs to the limit. In a case study, we applied the procedure to hundreds of genome sequences of picornaviruses and extensively evaluated it by modulating four key parameters. It was found that the genetics-based classification largely tolerates variations in virus sampling and multiple alignment construction but is affected by the choice of protein and the measure of genetic divergence. In an accompanying paper (C. Lauber and A. E. Gorbalenya, J. Virol. 86:3905–3915, 2012), we analyze the substantial insight gained with the genetics-based classification approach by comparing it with the expert-based picornavirus taxonomy. PMID:22278230

  20. 76 FR 6485 - Proposed Collection; Comment Request; Short Follow-Up Questionnaire for the National Institutes...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-02-04

    ... Epidemiology and Genetics of the National Cancer Institute (NCI) to establish and support programs for the... Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, 6120...

  1. The National Evaluation of School Nutrition Programs. Final Report - Executive Summary.

    ERIC Educational Resources Information Center

    Radzikowski, Jack

    This is a summary of the final report of a study (begun in 1979) of the National School Lunch, School Breakfast, and Special Milk Programs. The major objectives of the evaluation were to (1) identify existing information on the school nutrition programs; (2) identify determinants of participation in the programs and develop statistical models for…

  2. Evaluating the forest stewardship program through a national survey of participants

    Treesearch

    J.D. Esseks; R.J. Moulton

    2000-01-01

    This paper reports findings from a national survey of 1,231 participants in the Forest Stewardship Program (FSP) of USDA's Forest Service. Launched in 1991, the FSP provides technical assistance through state forestry agencies to help landowners develop management plans for their non-industrial forestland. The survey allowed us to address five main evaluative...

  3. [Genetic isolates and inbreeding customs in three rural municipalities from Honduras].

    PubMed

    Herrera-Paz, Edwin Francisco

    2016-01-01

    The isonymic method has been amply used to assess the approximate genetic structure of human communities. The objective of the study was to evaluate the magnitude of genetic isolation and inbreeding customs in 57 communities from three rural municipalities of Honduras using isonymy techniques. The list of 408 different surnames from 20712 voters registered in the national electoral organism, residing in the 57 Honduran communities, was used for this study. For each community, random (IR), non-random (IN), and total (IT) isonymy values were calculated in order to assess inbreeding coefficients FST, FIS and FIT. High consanguinity due to isolation and to endogamous customs was unveiled in many communities. Significant deviation from the exogamous behavior typical of many human populations was observed in the three studied municipalities, when compared to other Honduran populations. The studied communities present high consanguinity due to isolation, ethnic segregation and/or endogamous customs.

  4. Human Genetics. Informational and Educational Materials, Vol. I, No. 1.

    ERIC Educational Resources Information Center

    National Clearinghouse for Human Genetic Diseases (DHEW/PHS), Rockville, MD.

    This catalogue, prepared by the National Clearinghouse for Human Genetic Diseases, provides educational and informational materials on the latest advances in testing, diagnosing, counseling, and treating individuals with a concern for genetic diseases. The materials include books, brochures, pamphlets, journal articles, audio cassettes,…

  5. Evaluation of genetic variability among "Early Mature" Juglans regia using microsatellite markers and morphological traits.

    PubMed

    Ebrahimi, Aziz; Zarei, Abdolkarim; Zamani Fardadonbeh, Mojtaba; Lawson, Shaneka

    2017-01-01

    Limiting the juvenile phase and reducing tree size are the two main challenges for breeders to improve most fruit crops. Early maturation and dwarf cultivars have been reported for many fruit species. "Early mature" and low vigor walnut genotypes were found among seedlings of Persian walnut. Nine microsatellite markers were used to evaluate genetic diversity among "Early Mature" Persian walnut accessions and provide a comparison with "normal growth" accessions. Six maturation related characteristics were also measured in "Early Mature" samples. Phenotypic traits and diversity indices showed relatively high levels of genetic diversity in "Early Mature" seedlings and indicated high differentiation between individuals. Seedling height, the most diverse phenotypic trait, has an important role in the clustering of "Early Mature" accessions. The "Early Mature" type had higher number of alleles, number of effective allele, and Shannon index compared to the "Normal Growth" group. The two types of studied walnuts had different alleles, with more than half of produced alleles specific to a specific group. "Early Mature" and "Normal Growth" walnuts had 27 and 17 private alleles, respectively. Grouping with different methods separated "Early Mature" and "Normal Growth" samples entirely. The presence of moderate to high genetic diversity in "Early Mature" walnuts and high genetic differentiation with "Normal Growth" walnuts, indicated that "Early Mature" walnuts were more diverse and distinct from "Normal Growth" samples. Moreover, our results showed SSR markers were useful for differentiating between "Early Mature" and "Normal Growth" walnuts. A number of identified loci have potential in breeding programs for identification of "Early Mature" walnuts at the germination phase.

  6. Evaluating methods to visualize patterns of genetic differentiation on a landscape.

    PubMed

    House, Geoffrey L; Hahn, Matthew W

    2018-05-01

    With advances in sequencing technology, research in the field of landscape genetics can now be conducted at unprecedented spatial and genomic scales. This has been especially evident when using sequence data to visualize patterns of genetic differentiation across a landscape due to demographic history, including changes in migration. Two recent model-based visualization methods that can highlight unusual patterns of genetic differentiation across a landscape, SpaceMix and EEMS, are increasingly used. While SpaceMix's model can infer long-distance migration, EEMS' model is more sensitive to short-distance changes in genetic differentiation, and it is unclear how these differences may affect their results in various situations. Here, we compare SpaceMix and EEMS side by side using landscape genetics simulations representing different migration scenarios. While both methods excel when patterns of simulated migration closely match their underlying models, they can produce either un-intuitive or misleading results when the simulated migration patterns match their models less well, and this may be difficult to assess in empirical data sets. We also introduce unbundled principal components (un-PC), a fast, model-free method to visualize patterns of genetic differentiation by combining principal components analysis (PCA), which is already used in many landscape genetics studies, with the locations of sampled individuals. Un-PC has characteristics of both SpaceMix and EEMS and works well with simulated and empirical data. Finally, we introduce msLandscape, a collection of tools that streamline the creation of customizable landscape-scale simulations using the popular coalescent simulator ms and conversion of the simulated data for use with un-PC, SpaceMix and EEMS. © 2017 John Wiley & Sons Ltd.

  7. Genetic and clinical evaluation of juvenile retinoschisis.

    PubMed

    Kim, Judy E; Ruttum, Mark S; Koeberl, Matthew J; Hassemer, Eryn L; Sidjanin, D J

    2009-04-01

    Juvenile retinoschisis is a rare retinal dystrophy caused by RS1 gene mutations.(1) Clinical examinations and molecular testing definitively diagnosed juvenile retinoschisis in 2 male infants, one of whom had a novel mutation not previously reported in the United States. Genetic testing may be the simplest way to confirm this diagnosis in infants.

  8. A Feasibility Study to Evaluate Wind Energy Potential on the Navajo Nation

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Terry Battiest

    2012-11-30

    The project, A Feasibility Study to Evaluate Wind Energy Potential on the Navajo Nation, is funded under a solicitation issued by the U.S. Department of Energy Tribal Energy Program. Funding provided by the grant allowed the Navajo Nation to measure wind potential at two sites, one located within the boundaries of the Navajo Nation and the other off-reservation during the project period (September 5, 2005 - September 30, 2009). The recipient for the grant award is the Navajo Tribal Utility Authority (NTUA). The grant allowed the Navajo Nation and NTUA manage the wind feasibility from initial site selection through themore » decision-making process to commit to a site for wind generation development. The grant activities help to develop human capacity at NTUA and help NTUA to engage in renewable energy generation activities, including not only wind but also solar and biomass. The final report also includes information about development activities regarding the sited included in the grant-funded feasibility study.« less

  9. Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.

    PubMed

    Peter, Inga; Mitchell, Adele A; Ozelius, Laurie; Erazo, Monica; Hu, Jianzhong; Doheny, Dana; Abreu, Maria T; Present, Daniel H; Ullman, Thomas; Benkov, Keith; Korelitz, Burton I; Mayer, Lloyd; Desnick, Robert J

    2011-05-06

    Crohn's disease (CD) has the highest prevalence among individuals of Ashkenazi Jewish (AJ) descent compared to non-Jewish Caucasian populations (NJ). We evaluated a set of well-established CD-susceptibility variants to determine if they can explain the increased CD risk in the AJ population. We recruited 369 AJ CD patients and 503 AJ controls, genotyped 22 single nucleotide polymorphisms (SNPs) at or near 10 CD-associated genes, NOD2, IL23R, IRGM, ATG16L1, PTGER4, NKX2-3, IL12B, PTPN2, TNFSF15 and STAT3, and assessed their association with CD status. We generated genetic scores based on the risk allele count alone and the risk allele count weighed by the effect size, and evaluated their predictive value. Three NOD2 SNPs, two IL23R SNPs, and one SNP each at IRGM and PTGER4 were independently associated with CD risk. Carriage of 7 or more copies of these risk alleles or the weighted genetic risk score of 7 or greater correctly classified 92% (allelic count score) and 83% (weighted score) of the controls; however, only 29% and 47% of the cases were identified as having the disease, respectively. This cutoff was associated with a >4-fold increased disease risk (p < 10e-16). CD-associated genetic risks were similar to those reported in NJ population and are unlikely to explain the excess prevalence of the disease in AJ individuals. These results support the existence of novel, yet unidentified, genetic variants unique to this population. Understanding of ethnic and racial differences in disease susceptibility may help unravel the pathogenesis of CD leading to new personalized diagnostic and therapeutic approaches.

  10. Evaluating a National Science and Technology Program Using the Human Capital and Relational Asset Perspectives

    ERIC Educational Resources Information Center

    Hung, Chia-Liang; Chou, Jerome Chih-Lung; Roan, Hung-Wei

    2010-01-01

    The purpose of this research is to evaluate the performance of the National Science and Technology Program (NSTP) by targeting the Taiwan National Telecommunication Program (NTP) initiated in 1998. The Taiwan telecommunications industry has prospered, currently occupying key positions in global markets even though NTP seldom contributes positively…

  11. [The usefulness of evaluating effectiveness: pre-implantation genetic screening as an example].

    PubMed

    Twisk, Moniek

    2012-01-01

    Many treatments are applied in medical practice without a proper evaluation of their effectiveness. In this article, the possible negative consequences of such interventions are illustrated by using pre-implantation genetic screening (PGS) as an example. Research has shown that PGS is both expensive and ineffective. Hypothetically speaking, the non-performance of PGS saved 6 million euro in 2006 and the loss of 369 pregnancies was prevented. The investment in this research was much less than these 6 million euro saved. We postulate making the reimbursement of interventions dependent on their clinical effectiveness, and to use the money saved by this strategy for well-designed and well-executed research on the effectiveness of other interventions.

  12. Ethnic background and genetic variation in the evaluation of cancer risk: a systematic review.

    PubMed

    Jing, Lijun; Su, Li; Ring, Brian Z

    2014-01-01

    The clinical use of genetic variation in the evaluation of cancer risk is expanding, and thus understanding how determinants of cancer susceptibility identified in one population can be applied to another is of growing importance. However there is considerable debate on the relevance of ethnic background in clinical genetics, reflecting both the significance and complexity of genetic heritage. We address this via a systematic review of reported associations with cancer risk for 82 markers in 68 studies across six different cancer types, comparing association results between ethnic groups and examining linkage disequilibrium between risk alleles and nearby genetic loci. We find that the relevance of ethnic background depends on the question. If asked whether the association of variants with disease risk is conserved across ethnic boundaries, we find that the answer is yes, the majority of markers show insignificant variability in association with cancer risk across ethnic groups. However if the question is whether a significant association between a variant and cancer risk is likely to reproduce, the answer is no, most markers do not validate in an ethnic group other than the discovery cohort's ancestry. This lack of reproducibility is not attributable to studies being inadequately populated due to low allele frequency in other ethnic groups. Instead, differences in local genomic structure between ethnic groups are associated with the strength of association with cancer risk and therefore confound interpretation of the implied physiologic association tracked by the disease allele. This suggest that a biological association for cancer risk alleles may be broadly consistent across ethnic boundaries, but reproduction of a clinical study in another ethnic group is uncommon, in part due to confounding genomic architecture. As clinical studies are increasingly performed globally this has important implications for how cancer risk stratifiers should be studied and employed.

  13. Ethnic Background and Genetic Variation in the Evaluation of Cancer Risk: A Systematic Review

    PubMed Central

    Jing, Lijun; Su, Li; Ring, Brian Z.

    2014-01-01

    The clinical use of genetic variation in the evaluation of cancer risk is expanding, and thus understanding how determinants of cancer susceptibility identified in one population can be applied to another is of growing importance. However there is considerable debate on the relevance of ethnic background in clinical genetics, reflecting both the significance and complexity of genetic heritage. We address this via a systematic review of reported associations with cancer risk for 82 markers in 68 studies across six different cancer types, comparing association results between ethnic groups and examining linkage disequilibrium between risk alleles and nearby genetic loci. We find that the relevance of ethnic background depends on the question. If asked whether the association of variants with disease risk is conserved across ethnic boundaries, we find that the answer is yes, the majority of markers show insignificant variability in association with cancer risk across ethnic groups. However if the question is whether a significant association between a variant and cancer risk is likely to reproduce, the answer is no, most markers do not validate in an ethnic group other than the discovery cohort’s ancestry. This lack of reproducibility is not attributable to studies being inadequately populated due to low allele frequency in other ethnic groups. Instead, differences in local genomic structure between ethnic groups are associated with the strength of association with cancer risk and therefore confound interpretation of the implied physiologic association tracked by the disease allele. This suggest that a biological association for cancer risk alleles may be broadly consistent across ethnic boundaries, but reproduction of a clinical study in another ethnic group is uncommon, in part due to confounding genomic architecture. As clinical studies are increasingly performed globally this has important implications for how cancer risk stratifiers should be studied and

  14. Intensive Management and Natural Genetic Variation in Red Deer (Cervus elaphus).

    PubMed

    Galarza, Juan A; Sánchez-Fernández, Beatriz; Fandos, Paulino; Soriguer, Ramón

    2017-07-01

    The current magnitude of big-game hunting has outpaced the natural growth of populations, making artificial breeding necessary to rapidly boost hunted populations. In this study, we evaluated if the rapid increase of red deer (Cervus elaphus) abundance, caused by the growing popularity of big-game hunting, has impacted the natural genetic diversity of the species. We compared several genetic diversity metrics between 37 fenced populations subject to intensive management and 21 wild free-ranging populations. We also included a historically protected population from a national park as a baseline for comparisons. Contrary to expectations, our results showed no significant differences in genetic diversity between wild and fenced populations. Relatively lower genetic diversity was observed in the protected population, although differences were not significant in most cases. Bottlenecks were detected in both wild and fenced populations, as well as in the protected population. Assignment tests identified individuals that did not belong to their population of origin, indicating anthropogenic movement. We discuss the most likely processes, which could have led to the observed high levels of genetic variability and lack of differentiation between wild and fenced populations and suggest cautionary points for future conservation. We illustrate our comparative approach in red deer. However, our results and interpretations can be largely applicable to most ungulates subject to big-game hunting as most of them share a common exploitation-recovery history as well as many ecological traits. © The American Genetic Association 2017. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  15. Genetic and clinical evaluation of juvenile retinoschisis

    PubMed Central

    Kim, Judy E.; Ruttum, Mark S.; Koeberl, Matthew J.; Hassemer, Eryn L.; Sidjanin, D. J.

    2014-01-01

    Juvenile retinoschisis is a rare retinal dystrophy caused by RS1 gene mutations.1 Clinical examinations and molecular testing definitively diagnosed juvenile retinoschisis in 2 male infants, one of whom had a novel mutation not previously reported in the United States. Genetic testing may be the simplest way to confirm this diagnosis in infants. PMID:19393523

  16. Towards national-scale greenhouse gas emissions evaluation with robust uncertainty estimates

    NASA Astrophysics Data System (ADS)

    Rigby, Matthew; Swallow, Ben; Lunt, Mark; Manning, Alistair; Ganesan, Anita; Stavert, Ann; Stanley, Kieran; O'Doherty, Simon

    2016-04-01

    Through the Deriving Emissions related to Climate Change (DECC) network and the Greenhouse gAs Uk and Global Emissions (GAUGE) programme, the UK's greenhouse gases are now monitored by instruments mounted on telecommunications towers and churches, on a ferry that performs regular transects of the North Sea, on-board a research aircraft and from space. When combined with information from high-resolution chemical transport models such as the Met Office Numerical Atmospheric dispersion Modelling Environment (NAME), these measurements are allowing us to evaluate emissions more accurately than has previously been possible. However, it has long been appreciated that current methods for quantifying fluxes using atmospheric data suffer from uncertainties, primarily relating to the chemical transport model, that have been largely ignored to date. Here, we use novel model reduction techniques for quantifying the influence of a set of potential systematic model errors on the outcome of a national-scale inversion. This new technique has been incorporated into a hierarchical Bayesian framework, which can be shown to reduce the influence of subjective choices on the outcome of inverse modelling studies. Using estimates of the UK's methane emissions derived from DECC and GAUGE tall-tower measurements as a case study, we will show that such model systematic errors have the potential to significantly increase the uncertainty on national-scale emissions estimates. Therefore, we conclude that these factors must be incorporated in national emissions evaluation efforts, if they are to be credible.

  17. Evaluation of fisher (Pekania pennanti) restoration in Olympic National Park and the Olympic Recovery Area: 2014 annual progress report

    USGS Publications Warehouse

    Happe, Patricia J.; Jenkins, Kurt J.; Kay, Thomas J.; Pilgrim, Kristy L.; Schwartz, Michael K.; Lewis, Jeffrey C.; Aubry, Keith B.

    2015-01-01

    With the translocation and release of 90 fishers (Pekania pennanti) from British Columbia to Olympic National Park during 2008–2010, the National Park Service and Washington Department of Fish and Wildlife accomplished the first phase of fisher restoration in Washington State. Beginning in 2013, we initiated a new research project to determine the current status of fishers on Washington’s Olympic Peninsula 3–5 years after the releases and evaluate the short-term success of the restoration program. Objectives of the study are to determine the current distribution of fishers and proportion of the recovery area that is currently occupied by fishers, determine several genetic characteristics of the reintroduced population, and determine reproductive success of the founding animals through genetic studies. During 2014, we continued working with a broad coalition of cooperating agencies, tribes, and nongovernmental organizations (NGO) to collect data on fisher distribution and genetics using noninvasive sampling methods. The primary sampling frame consisted of 157 24-square-kilometer hexagons (hexes) distributed across all major land ownerships within the Olympic Peninsula target survey area. In 2014 we expanded the study by adding 58 more hexes to an expanded study area in response to incidental fisher observations outside of the target area obtained in 2013; 49 hexes were added south and 9 to the east of the target area. During 2014, federal, state, tribal and NGO biologists and volunteers established three baited motion-sensing camera stations, paired with hair snaring devices, in 80 hexes; 69 in the targeted area 11 in the expansion areas. Each paired camera/hair station was left in place for approximately 6 weeks, with three checks on 2-week intervals. We documented fisher presence in 5 of the 80 hexagons, and identified 5 different fishers through a combination of microsatellite DNA analyses and camera detections. All fisher detections were in the target area

  18. Evaluation of Potential Evapotranspiration from a Hydrologic Model on a National Scale

    NASA Astrophysics Data System (ADS)

    Hakala, Kirsti; Markstrom, Steven; Hay, Lauren

    2015-04-01

    The U.S. Geological Survey has developed a National Hydrologic Model (NHM) to support coordinated, comprehensive and consistent hydrologic model development and facilitate the application of simulations on the scale of the continental U.S. The NHM has a consistent geospatial fabric for modeling, consisting of over 100,000 hydrologic response units HRUs). Each HRU requires accurate parameter estimates, some of which are attained from automated calibration. However, improved calibration can be achieved by initially utilizing as many parameters as possible from national data sets. This presentation investigates the effectiveness of calculating potential evapotranspiration (PET) parameters based on mean monthly values from the NOAA PET Atlas. Additional PET products are then used to evaluate the PET parameters. Effectively utilizing existing national-scale data sets can simplify the effort in establishing a robust NHM.

  19. Evaluation of Potential Evapotranspiration from a Hydrologic Model on a National Scale

    NASA Astrophysics Data System (ADS)

    Hakala, K. A.; Hay, L.; Markstrom, S. L.

    2014-12-01

    The US Geological Survey has developed a National Hydrologic Model (NHM) to support coordinated, comprehensive and consistent hydrologic model development and facilitate the application of simulations on the scale of the continental US. The NHM has a consistent geospatial fabric for modeling, consisting of over 100,000 hydrologic response units (HRUs). Each HRU requires accurate parameter estimates, some of which are attained from automated calibration. However, improved calibration can be achieved by initially utilizing as many parameters as possible from national data sets. This presentation investigates the effectiveness of calculating potential evapotranspiration (PET) parameters based on mean monthly values from the NOAA PET Atlas. Additional PET products are then used to evaluate the PET parameters. Effectively utilizing existing national-scale data sets can simplify the effort in establishing a robust NHM.

  20. EvalPartners: Facilitating the Development of a New Model of Voluntary Organization for Professional Evaluation to Support the Development of National Evaluation Capacities

    ERIC Educational Resources Information Center

    Kosheleva, Natalia; Segone, Marco

    2013-01-01

    In many less developed democracies Voluntary Organizations for Professional Evaluation (VOPEs) face the challenges of low demand for evaluation and the resulting low economic capacity of national evaluation communities. The VOPE model that evolved in well-developed democracies is not directly applicable under these circumstances, so a new model…

  1. Precision Oncology and Genetic Risk Information: Exploring Patients' Preferences and Responses

    Cancer.gov

    Dr. Jada Hamilton is an Assistant Member at Memorial Sloan Kettering Cancer Center, as well as an Assistant Attending Psychologist in the Behavioral Sciences Service, Department of Psychiatry and Behavioral Sciences and in the Clinical Genetics Service, Department of Medicine at Memorial Hospital in New York, New York.  She leads a program of research at the intersection of behavioral science, cancer prevention, and genomics, with the goal of translating advances in genetic and genomic medicine into improved cancer care that is of high quality, aligned with patient preferences, and ultimately improves public health.  Dr. Hamilton is also currently leading a study to assess how patients and their families respond to inherited risk information that is revealed as part of tumor sequencing (funded through a Mentored Research Scholar Grant from the American Cancer Society), as well as studies to evaluate alternative models for offering genetic counseling and testing to patients with cancer, and to examine the effects of novel breast cancer genetic risk feedback on patients’ decision-making, psychological, and behavioral outcomes. Prior to joining the faculty of Memorial Sloan Kettering, Dr. Hamilton received a BA in Genetics and Psychology from Ohio Wesleyan University (2004), an MA and PhD in Social and Health Psychology from Stony Brook University (2006, 2009), and an MPH from the Mailman School of Public Health at Columbia University (2010).  She also completed a postdoctoral fellowship as part of the National Cancer Institute’s Cancer Prevention Fellowship Program.

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

    PubMed Central

    Tozzo, Pamela; Caenazzo, Luciana; Rodriguez, Daniele

    2012-01-01

    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. PMID:22567400

  3. Impact of preimplantation genetic screening on donor oocyte-recipient cycles in the United States.

    PubMed

    Barad, David H; Darmon, Sarah K; Kushnir, Vitaly A; Albertini, David F; Gleicher, Norbert

    2017-11-01

    Our objective was to estimate the contribution of preimplantation genetic screening to in vitro fertilization pregnancy outcomes in donor oocyte-recipient cycles. This was a retrospective cross-sectional study of US national data from the Society for Assisted Reproductive Technology Clinic Outcome Reporting System between 2005 and 2013. Society for Assisted Reproductive Technology Clinic Outcome Reporting relies on voluntarily annual reports by more than 90% of US in vitro fertilization centers. We evaluated pregnancy and live birth rates in donor oocyte-recipient cycles after the first embryo transfer with day 5/6 embryos. Statistical models, adjusted for patient and donor ages, number of embryos transferred, race, infertility diagnosis, and cycle year were created to compare live birth rates in 392 preimplantation genetic screening and 20,616 control cycles. Overall, pregnancy and live birth rates were significantly lower in preimplantation genetic screening cycles than in control cycles. Adjusted odds of live birth for preimplantation genetic screening cycles were reduced by 35% (odds ratio, 0.65, 95% confidence interval, 0.53-0.80; P < .001). Preimplantation genetic screening, as practiced in donor oocyte-recipient cycles over the past 9 years, has not been associated with improved odds of live birth or reduction in miscarriage rates. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Genetic counseling of the cancer survivor

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Mulvihill, J.J.; Byrne, J.

    Each year, tens of thousands of persons are diagnosed with cancer, are treated, and become survivors while still in their reproductive years. Their concerns about possible germ-cell damage as a result of life-saving radiation, chemotherapy, or both are plausible, based on evidence from animal models and from somatic cell mutations in human beings. A 40-year follow-up of survivors of the atomic bomb blasts in Japan showed no detectable genetic damage and suggested that the human gonad is more resistant to radiogenic mutation than the laboratory mouse. The pooled results of studying 12 series of offspring of cancer patients showed amore » 4% rate of major birth defects (similar to that of the general population) and an excess of fetal loss and low birth weight in offspring of women who received abdominal radiotherapy. According to preliminary evaluation of a new National Cancer Institute collaboration with five cancer registries, offspring of survivors of childhood cancers had no more birth defects than expected and, beyond an increase in probably familial cancers in children younger than 5, no overall increase in childhood cancer. Ideally, genetic and reproductive counseling should take place as soon as cancer is diagnosed (before therapy starts) and again when pregnancy is contemplated. 28 references.« less

  5. The National Plant Germplasm System and GRIN-Global

    USDA-ARS?s Scientific Manuscript database

    The National Plant Germplasm System (NPGS) is a cooperative effort by public and private organizations to preserve plant genetic diversity. Federal and State personnel at 20 sites are responsible for approximately 547,000 unique accessions of a wide array of plant genetic resources (PGR) representi...

  6. Genetic progress in multistage dairy cattle breeding schemes using genetic markers.

    PubMed

    Schrooten, C; Bovenhuis, H; van Arendonk, J A M; Bijma, P

    2005-04-01

    The aim of this paper was to explore general characteristics of multistage breeding schemes and to evaluate multistage dairy cattle breeding schemes that use information on quantitative trait loci (QTL). Evaluation was either for additional genetic response or for reduction in number of progeny-tested bulls while maintaining the same response. The reduction in response in multistage breeding schemes relative to comparable single-stage breeding schemes (i.e., with the same overall selection intensity and the same amount of information in the final stage of selection) depended on the overall selection intensity, the selection intensity in the various stages of the breeding scheme, and the ratio of the accuracies of selection in the various stages of the breeding scheme. When overall selection intensity was constant, reduction in response increased with increasing selection intensity in the first stage. The decrease in response was highest in schemes with lower overall selection intensity. Reduction in response was limited in schemes with low to average emphasis on first-stage selection, especially if the accuracy of selection in the first stage was relatively high compared with the accuracy in the final stage. Closed nucleus breeding schemes in dairy cattle that use information on QTL were evaluated by deterministic simulation. In the base scheme, the selection index consisted of pedigree information and own performance (dams), or pedigree information and performance of 100 daughters (sires). In alternative breeding schemes, information on a QTL was accounted for by simulating an additional index trait. The fraction of the variance explained by the QTL determined the correlation between the additional index trait and the breeding goal trait. Response in progeny test schemes relative to a base breeding scheme without QTL information ranged from +4.5% (QTL explaining 5% of the additive genetic variance) to +21.2% (QTL explaining 50% of the additive genetic variance). A

  7. National Uranium Resource Evaluation: Marfa Quadrangle, Texas

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Henry, C D; Duex, T W; Wilbert, W P

    1982-09-01

    The uranium favorability of the Marfa 1/sup 0/ by 2/sup 0/ Quadrangle, Texas, was evaluated in accordance with criteria established for the National Uranium Resource Evaluation. Surface and subsurface studies, to a 1500 m (5000 ft) depth, and chemical, petrologic, hydrogeochemical, and airborne radiometric data were employed. The entire quadrangle is in the Basin and Range Province and is characterized by Tertiary silicic volcanic rocks overlying mainly Cretaceous carbonate rocks and sandstones. Strand-plain sandstones of the Upper Cretaceous San Carlos Formation and El Picacho Formation possess many favorable characteristics and are tentatively judged as favorable for sandstone-type deposits. The Tertiarymore » Buckshot Ignimbrite contains uranium mineralization at the Mammoth Mine. This deposit may be an example of the hydroauthigenic class; alternatively, it may have formed by reduction of uranium-bearing ground water produced during diagenesis of tuffaceous sediments of the Vieja Group. Although the presence of the deposit indicates favorability, the uncertainty in the process that formed the mineralization makes delineation of a favorable environment or area difficult. The Allen intrusions are favorable for authigenic deposits. Basin fill in several bolsons possesses characteristics that suggest favorability but which are classified as unevaluated because of insufficient data. All Precambrian, Paleozoic, other Mesozoic, and other Cenozoic environments are unfavorable.« less

  8. Genetic evaluation of claw health traits accounting for potential preselection of cows to be trimmed.

    PubMed

    Croué, Iola; Fikse, Freddy; Johansson, Kjell; Carlén, Emma; Thomas, Gilles; Leclerc, Hélène; Ducrocq, Vincent

    2017-10-01

    Claw lesions are one of the most important health issues in dairy cattle. Although the frequency of claw lesions depends greatly on herd management, the frequency can be lowered through genetic selection. A genetic evaluation could be developed based on trimming records collected by claw trimmers; however, not all cows present in a herd are usually selected by the breeder to be trimmed. The objectives of this study were to investigate the importance of the preselection of cows for trimming, to account for this preselection, and to estimate genetic parameters of claw health traits. The final data set contained 25,511 trimming records of French Holstein cows. Analyzed claw lesion traits were digital dermatitis, heel horn erosion, interdigital hyperplasia, sole hemorrhage circumscribed, sole hemorrhage diffused, sole ulcer, and white line fissure. All traits were analyzed as binary traits in a multitrait linear animal model. Three scenarios were considered: including only trimmed cows in a 7-trait model (scenario 1); or trimmed cows and contemporary cows not trimmed but present at the time of a visit (considering that nontrimmed cows were healthy) in a 7-trait model (scenario 2); or trimmed cows and contemporary cows not trimmed but present at the time of a visit (considering lesion records for trimmed cows only), in an 8-trait model, including a 0/1 trimming status trait (scenario 3). For scenario 3, heritability estimates ranged from 0.02 to 0.09 on the observed scale. Genetic correlations clearly revealed 2 groups of traits (digital dermatitis, heel horn erosion, and interdigital hyperplasia on the one hand, and sole hemorrhage circumscribed, sole hemorrhage diffused, sole ulcer, and white line fissure on the other hand). Heritabilities on the underlying scale did not vary much depending on the scenario: the effect of the preselection of cows for trimming on the estimation of heritabilities appeared to be negligible. However, including untrimmed cows as healthy

  9. Decision support for evaluating the U.S. national criteria and indicators for forest ecosystem sustainability

    Treesearch

    Keith M. Reynolds

    2006-01-01

    This paper describes and illustrates the use of the Ecosystem Management Decision Support (EMDS) system for evaluating the U.S. national criteria and indicators for forest ecosystem sustainability at the scale of Resource Planning Act (RPA) regions. The evaluation component of EMDS uses a logic engine to evaluate landscape condition, and the RPA-scale application...

  10. Genetically Modified (GM) Foods and Ethical Eating.

    PubMed

    Dizon, Francis; Costa, Sarah; Rock, Cheryl; Harris, Amanda; Husk, Cierra; Mei, Jenny

    2016-02-01

    The ability to manipulate and customize the genetic code of living organisms has brought forth the production of genetically modified organisms (GMOs) and consumption of genetically modified (GM) foods. The potential for GM foods to improve the efficiency of food production, increase customer satisfaction, and provide potential health benefits has contributed to the rapid incorporation of GM foods into the American diet. However, GM foods and GMOs are also a topic of ethical debate. The use of GM foods and GM technology is surrounded by ethical concerns and situational judgment, and should ideally adhere to the ethical standards placed upon food and nutrition professionals, such as: beneficence, nonmaleficence, justice and autonomy. The future of GM foods involves many aspects and trends, including enhanced nutritional value in foods, strict labeling laws, and potential beneficial economic conditions in developing nations. This paper briefly reviews the origin and background of GM foods, while delving thoroughly into 3 areas: (1) GMO labeling, (2) ethical concerns, and (3) health and industry applications. This paper also examines the relationship between the various applications of GM foods and their corresponding ethical issues. Ethical concerns were evaluated in the context of the code of ethics developed by the Academy of Nutrition and Dietetics (AND) that govern the work of food and nutrition professionals. Overall, there is a need to stay vigilant about the many ethical implications of producing and consuming GM foods and GMOs. © 2015 Institute of Food Technologists®

  11. 76 FR 19102 - Submission for OMB Review; Comment Request; Short Follow-Up Questionnaire for the National...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-04-06

    ...), which authorizes the Division of Cancer Epidemiology and Genetics of the National Cancer Institute (NCI... Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Executive Plaza South, Room 3040, 6120...

  12. Evaluation Approaches for a National ICT Initiative: The Example of Laptops for New Zealand Teachers

    ERIC Educational Resources Information Center

    Jones, Alister; Cowie, Bronwen

    2011-01-01

    This paper will highlight the successful evaluation approaches deployed for long-term exploration of the impact of a national policy initiative as well as some of the results and outcomes. An interactive feedback process informed decision-making at the national and local level thereby enhancing both the initiative and its implementation in…

  13. National Uranium Resource Evaluation, Tularosa Quadrangle, New Mexico

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Berry, V.P.; Nagy, P.A.; Spreng, W.C.

    1981-12-01

    Uranium favorability of the Tularosa Quadrangle, New Mexico, was evaluated to a depth of 1500 m using National Uranium Resource Evaluation criteria. Uranium occurrences reported in the literature were located, sampled, and described in detail. Areas of anomalous radioactivity, interpreted from an aerial radiometric survey, and geochemical anomalies, interpreted from hydrogeochemical and stream-sediment reconnaissance, were also investigated. Additionally, several hundred rock samples were studied in thin section, and supplemental geochemical analyses of rock and water samples were completed. Fluorometric analyses were completed for samples from the Black Range Primitive Area to augment previously available geochemical data. Subsurface favorability was evaluatedmore » using gamma-ray logs and descriptive logs of sample cuttings. One area of uranium favorability was delineated, based on the data made available from this study. This area is the Nogal Canyon cauldron margin zone. Within the zone, characterized by concentric and radial fractures, resurgent doming, ring-dike volcanism, and intracauldron sedimentation, uranium conentration is confined to magmatic-hydrothermal and volcanogenic uranium deposits.« less

  14. 75 FR 62549 - National Library of Medicine; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-12

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Library of Medicine... medical genetics area. Place: National Library of Medicine, Building 38, 2nd Floor, Board Room, 8600... Biotechnology Information, National Library of Medicine, Department of Health and Human Services, Building 38A...

  15. The Plant Genetic Engineering Laboratory For Desert Adaptation

    NASA Astrophysics Data System (ADS)

    Kemp, John D.; Phillips, Gregory C.

    1985-11-01

    The Plant Genetic Engineering Laboratory for Desert Adaptation (PGEL) is one of five Centers of Technical Excellence established as a part of the state of New Mexico's Rio Grande Research Corridor (RGRC). The scientific mission of PGEL is to bring innovative advances in plant biotechnology to bear on agricultural productivity in arid and semi-arid regions. Research activities focus on molecular and cellular genetics technology development in model systems, but also include stress physiology investigations and development of desert plant resources. PGEL interacts with the Los Alamos National Laboratory (LANL), a national laboratory participating in the RGRC. PGEL also has an economic development mission, which is being pursued through technology transfer activities to private companies and public agencies.

  16. The Genetic Counseling Video Project (GCVP): models of practice.

    PubMed

    Roter, D; Ellington, L; Erby, L Hamby; Larson, S; Dudley, W

    2006-11-15

    Genetic counseling is conceptualized as having both "teaching" and "counseling" functions; however, little is known about how these functions are articulated in routine practice. This study addresses the question by documenting, on videotape, the practices of a national sample of prenatal and cancer genetic counselors (GCs) providing routine pre-test counseling to simulated clients (SCs). One hundred and seventy-seven GCs recruited at two annual conferences of the National Society of Genetic Counselors (NSGC) were randomly assigned to counsel one of six female SCs of varying ethnicity, with or without a spouse, in their specialty. One hundred and fifty-two videotapes were coded with the Roter Interaction Analysis System (RIAS) and both GCs and SCs completed evaluative questionnaires. Two teaching and two counseling patterns of practice emerged from cluster analysis. The teaching patterns included: (1) clinical teaching (31%) characterized by low psychosocial, emotional and facilitative talk, high levels of clinical exchange, and high verbal dominance; and (2) psycho-educational teaching (27%) characterized by high levels of both clinical and psychosocial exchange, low levels of emotional and facilitative talk, and higher verbal dominance. The counseling patterns included: (1) supportive counseling (33%) characterized by low psychosocial and clinical exchange, high levels of emotional and facilitative talk, and low verbal dominance; and (2) psychosocial counseling (9%) with high emotional and facilitative talk, low clinical and high psychosocial exchange, and the lowest verbal dominance. SCs ratings of satisfaction with communication, the counselor's affective demeanor, and the counselor's use of non-verbal skills were highest for the counseling model sessions. Both the teaching and counseling models seem to be represented in routine practice and predict variation in client satisfaction, affective demeanor, and nonverbal effectiveness. (c) 2006 Wiley-Liss, Inc.

  17. Defining and redefining the scope and goals of genetic counseling.

    PubMed

    Resta, Robert G

    2006-11-15

    Many definitions of genetic counseling have been proposed since Sheldon Reed first defined the term in 1947. This study reviews selected definitions of genetic counseling including the most recent definition proposed by a committee of the National Society of Genetic Counselors. The analysis focuses on the professional background of who was formulating the definition; the reasons why the definition was created; medical, historical, and social factors; and the definer's implicit or explicit goals of genetic counseling. No definition of genetic counseling is ideal, and any definition can only reflect the values, ethics, goals, and medical practices of the person or group defining the practice of genetic counseling. (c) 2006 Wiley-Liss, Inc.

  18. Genetic evaluation of the Association of Zoos and Aquariums Matschie's tree kangaroo (Dendrolagus matschiei) captive breeding program.

    PubMed

    McGreevy, Thomas J; Dabek, Lisa; Husband, Thomas P

    2011-01-01

    Matschie's tree kangaroo (Dendrolagus matschiei) is an endangered species that has been bred in captivity since the 1970s. In 1992, the Tree Kangaroo Species Survival Plan(®) (TKSSP) was established to coordinate the captive management of Association of Zoos and Aquariums (AZA) D. matschiei. The TKSSP makes annual breeding recommendations primarily based on the mean kinship (MK) strategy. Captive breeding programs often use the MK strategy to preserve genetic diversity in small populations-to avoid the negative consequences of inbreeding and retain their adaptive potential. The ability of a captive breeding program to retain the population's genetic diversity over time can be evaluated by comparing the genetic diversity of the captive population to wild populations. We analyzed DNA extracted from blood and fecal samples from AZA (n = 71), captive (n = 28), and wild (n = 22) D. matschiei using eight microsatellite markers and sequenced the partial mitochondrial DNA control region gene. AZA D. matschiei had a similar expected heterozygosity (H(e) = 0.595 ± 0.184) compared with wild D. matschiei (H(e) = 0.628 ± 0.143), but they had different allelic frequencies (F(ST) = 0.126; P < 0.001). AZA D. matschiei haplotype diversity was almost two times lower than wild D. matschiei Ĥ = 0.740 ± 0.063. These data will assist management of AZA D. matschiei and serve as a baseline for AZA and wild D. matschiei genetic diversity values that could be used to monitor future changes in their genetic diversity. © 2010 Wiley Periodicals, Inc.

  19. Evaluating a Proposed 20% National Renewable Portfolio Standard

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Logan, Jeffrey; Sullivan, Patrick; Short, Walter

    2009-02-01

    This paper provides a preliminary analysis of the impacts of a proposed 20% national renewable portfolio standard (RPS) by 2021, which has been advanced in the U.S. Congress by Senator Jeff Bingaman of New Mexico. The paper was prepared before the America Recovery and Reinvestment Act was signed into law by President Barack Obama on February 17, 2009, and thus does not consider important changes in renewable energy (RE) policy that need to be addressed in follow-on analysis. We use NREL's Regional Energy Deployment System (ReEDS) model to evaluate the impacts of the RPS requirements on the energy sector andmore » consider design issues associated with renewable energy certificate (REC) trading markets.« less

  20. Wiisokotaatiwin: development and evaluation of a community-based palliative care program in Naotkamegwanning First Nation.

    PubMed

    Nadin, Shevaun; Crow, Maxine; Prince, Holly; Kelley, Mary Lou

    2018-04-01

    Approximately 474 000 Indigenous people live in 617 First Nations communities across Canada; 125 of those communities are located in Ontario, primarily in rural and remote areas. Common rural health challenges, including for palliative care, involve quality and access. The need for culturally relevant palliative care programs in First Nations communities is urgent because the population is aging with a high burden of chronic and terminal disease. Because local palliative care is lacking, most First Nations people now leave their culture, family and community to receive care in distant hospitals or long-term care homes. Due to jurisdictional issues, a policy gap exists where neither federal nor provincial governments takes responsibility for funding palliative care in First Nations communities. Further, no Canadian program models existed for how different levels of government can collaborate to fund and deliver palliative care in First Nations communities. This article describes an innovative, community-based palliative care program (Wiisokotaatiwin) developed in rural Naotkamegwanning, and presents the results of a process evaluation of its pilot implementation. The evaluation aimed to (i) document the program's pilot implementation, (ii) assess progress toward intended program outcomes and (iii) assess the perceived value of the program. The Wiisokotaatiwin Program was developed and implemented over 5 years using participatory action research (http://www.eolfn.lakeheadu.ca). A mixed-method evaluation approach was adopted. Descriptive data were extracted from program documents (eg client registration forms). Client tracking forms documented service provision data for a 4-month sample period. Quantitative and qualitative data were collected through client and family member questionnaires (n=7) and healthcare provider questionnaires (n=22). A focus group was conducted with the program leadership team responsible for program development. Quantitative data were

  1. Genetic Simulation Resources: a website for the registration and discovery of genetic data simulators

    PubMed Central

    Peng, Bo; Chen, Huann-Sheng; Mechanic, Leah E.; Racine, Ben; Clarke, John; Clarke, Lauren; Gillanders, Elizabeth; Feuer, Eric J.

    2013-01-01

    Summary: Many simulation methods and programs have been developed to simulate genetic data of the human genome. These data have been widely used, for example, to predict properties of populations retrospectively or prospectively according to mathematically intractable genetic models, and to assist the validation, statistical inference and power analysis of a variety of statistical models. However, owing to the differences in type of genetic data of interest, simulation methods, evolutionary features, input and output formats, terminologies and assumptions for different applications, choosing the right tool for a particular study can be a resource-intensive process that usually involves searching, downloading and testing many different simulation programs. Genetic Simulation Resources (GSR) is a website provided by the National Cancer Institute (NCI) that aims to help researchers compare and choose the appropriate simulation tools for their studies. This website allows authors of simulation software to register their applications and describe them with well-defined attributes, thus allowing site users to search and compare simulators according to specified features. Availability: http://popmodels.cancercontrol.cancer.gov/gsr. Contact: gsr@mail.nih.gov PMID:23435068

  2. Evaluating Changes in Omega-3 Fatty Acid Intake after Receiving Personal FADS1 Genetic Information: A Randomized Nutrigenetic Intervention

    PubMed Central

    Roke, Kaitlin; Walton, Kathryn; Klingel, Shannon L.; Harnett, Amber; Subedi, Sanjeena; Haines, Jess; Mutch, David M.

    2017-01-01

    Nutrigenetics research is anticipated to lay the foundation for personalized dietary recommendations; however, it remains unclear if providing individuals with their personal genetic information changes dietary behaviors. Our objective was to evaluate if providing information for a common variant in the fatty acid desaturase 1 (FADS1) gene changed omega-3 fatty acid (FA) intake and blood levels in young female adults (18–25 years). Participants were randomized into Genetic (intervention) and Non-Genetic (control) groups, with measurements taken at Baseline and Final (12 weeks). Dietary intake of eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) was assessed using an omega-3 food frequency questionnaire. Red blood cell (RBC) FA content was quantified by gas chromatography. Implications of participation in a nutrigenetics study and awareness of omega-3 FAs were assessed with online questionnaires. Upon completion of the study, EPA and DHA intake increased significantly (p = 1.0 × 10−4) in all participants. This change was reflected by small increases in RBC %EPA. Participants in the Genetic group showed increased awareness of omega-3 terminology by the end of the study, reported that the dietary recommendations were more useful, and rated cost as a barrier to omega-3 consumption less often than those in the Non-Genetic group. Providing participants FADS1 genetic information did not appear to influence omega-3 intake during the 12 weeks, but did change perceptions and behaviors related to omega-3 FAs in this timeframe. PMID:28272299

  3. Evaluating Changes in Omega-3 Fatty Acid Intake after Receiving Personal FADS1 Genetic Information: A Randomized Nutrigenetic Intervention.

    PubMed

    Roke, Kaitlin; Walton, Kathryn; Klingel, Shannon L; Harnett, Amber; Subedi, Sanjeena; Haines, Jess; Mutch, David M

    2017-03-06

    Nutrigenetics research is anticipated to lay the foundation for personalized dietary recommendations; however, it remains unclear if providing individuals with their personal genetic information changes dietary behaviors. Our objective was to evaluate if providing information for a common variant in the fatty acid desaturase 1 ( FADS1 ) gene changed omega-3 fatty acid (FA) intake and blood levels in young female adults (18-25 years). Participants were randomized into Genetic (intervention) and Non-Genetic (control) groups, with measurements taken at Baseline and Final (12 weeks). Dietary intake of eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) was assessed using an omega-3 food frequency questionnaire. Red blood cell (RBC) FA content was quantified by gas chromatography. Implications of participation in a nutrigenetics study and awareness of omega-3 FAs were assessed with online questionnaires. Upon completion of the study, EPA and DHA intake increased significantly ( p = 1.0 × 10 -4 ) in all participants. This change was reflected by small increases in RBC %EPA. Participants in the Genetic group showed increased awareness of omega-3 terminology by the end of the study, reported that the dietary recommendations were more useful, and rated cost as a barrier to omega-3 consumption less often than those in the Non-Genetic group. Providing participants FADS1 genetic information did not appear to influence omega-3 intake during the 12 weeks, but did change perceptions and behaviors related to omega-3 FAs in this timeframe.

  4. Evaluation of 22 genetic variants with Crohn's Disease risk in the Ashkenazi Jewish population: a case-control study

    PubMed Central

    2011-01-01

    Background Crohn's disease (CD) has the highest prevalence among individuals of Ashkenazi Jewish (AJ) descent compared to non-Jewish Caucasian populations (NJ). We evaluated a set of well-established CD-susceptibility variants to determine if they can explain the increased CD risk in the AJ population. Methods We recruited 369 AJ CD patients and 503 AJ controls, genotyped 22 single nucleotide polymorphisms (SNPs) at or near 10 CD-associated genes, NOD2, IL23R, IRGM, ATG16L1, PTGER4, NKX2-3, IL12B, PTPN2, TNFSF15 and STAT3, and assessed their association with CD status. We generated genetic scores based on the risk allele count alone and the risk allele count weighed by the effect size, and evaluated their predictive value. Results Three NOD2 SNPs, two IL23R SNPs, and one SNP each at IRGM and PTGER4 were independently associated with CD risk. Carriage of 7 or more copies of these risk alleles or the weighted genetic risk score of 7 or greater correctly classified 92% (allelic count score) and 83% (weighted score) of the controls; however, only 29% and 47% of the cases were identified as having the disease, respectively. This cutoff was associated with a >4-fold increased disease risk (p < 10e-16). Conclusions CD-associated genetic risks were similar to those reported in NJ population and are unlikely to explain the excess prevalence of the disease in AJ individuals. These results support the existence of novel, yet unidentified, genetic variants unique to this population. Understanding of ethnic and racial differences in disease susceptibility may help unravel the pathogenesis of CD leading to new personalized diagnostic and therapeutic approaches. PMID:21548950

  5. Genetic testing in heritable cardiac arrhythmia syndromes: differentiating pathogenic mutations from background genetic noise.

    PubMed

    Giudicessi, John R; Ackerman, Michael J

    2013-01-01

    In this review, we summarize the basic principles governing rare variant interpretation in the heritable cardiac arrhythmia syndromes, focusing on recent advances that have led to disease-specific approaches to the interpretation of positive genetic testing results. Elucidation of the genetic substrates underlying heritable cardiac arrhythmia syndromes has unearthed new arrhythmogenic mechanisms and given rise to a number of clinically meaningful genotype-phenotype correlations. As such, genetic testing for these disorders now carries important diagnostic, prognostic, and therapeutic implications. Recent large-scale systematic studies designed to explore the background genetic 'noise' rate associated with these genetic tests have provided important insights and enhanced how positive genetic testing results are interpreted for these potentially lethal, yet highly treatable, cardiovascular disorders. Clinically available genetic tests for heritable cardiac arrhythmia syndromes allow the identification of potentially at-risk family members and contribute to the risk-stratification and selection of therapeutic interventions in affected individuals. The systematic evaluation of the 'signal-to-noise' ratio associated with these genetic tests has proven critical and essential to assessing the probability that a given variant represents a rare pathogenic mutation or an equally rare, yet innocuous, genetic bystander.

  6. Obtaining genetic testing in pediatric epilepsy.

    PubMed

    Ream, Margie A; Patel, Anup D

    2015-10-01

    The steps from patient evaluation to genetic diagnosis remain complicated. We discuss some of the genetic testing methods available along with their general advantages and disadvantages. We briefly review common pediatric epilepsy syndromes with strong genetic association and provide a potentially useful algorithm for genetic testing in drug-resistant epilepsy. We performed an extensive literature review of available information as it pertains to genetic testing and genetics in pediatric epilepsy. If a genetic disorder is suspected as the cause of epilepsy, based on drug resistance, family history, or clinical phenotype, timely diagnosis may reduce overall cost, limit the diagnostic odyssey that can bring much anxiety to families, improve prognostic accuracy, and lead to targeted therapy. Interpretation of complicated results should be performed only in collaboration with geneticists and genetic counselors, unless the ordering neurologist has a strong background in and understanding of genetics. Genetic testing can play an important role in the care provided to patients with epilepsy. Wiley Periodicals, Inc. © 2015 International League Against Epilepsy.

  7. Genetic Potential of Winter Wheat Grain Quality in Central Asia

    ERIC Educational Resources Information Center

    Abugaliyeva, Aigul I.; Morgounov, Alexey I.

    2016-01-01

    The grain quality of winter wheat varies significantly by cultivars and growing region, not previously differentiated by end-use (baking, confectionery, etc.) in the national breeding programs. In these conditions it is advisable to determine the genetic potential and analyze the actual grain quality. Determining the genetic potential requires the…

  8. Use of national clinical databases for informing and for evaluating health care policies.

    PubMed

    Black, Nick; Tan, Stefanie

    2013-02-01

    Policy-makers and analysts could make use of national clinical databases either to inform or to evaluate meso-level (organisation and delivery of health care) and macro-level (national) policies. Reviewing the use of 15 of the best established databases in England, we identify and describe four published examples of each use. These show that policy-makers can either make use of the data itself or of research based on the database. For evaluating policies, the major advantages are the huge sample sizes available, the generalisability of the data, its immediate availability and historic information. The principal methodological challenges involve the need for risk adjustment and time-series analysis. Given their usefulness in the policy arena, there are several reasons why national clinical databases have not been used more, some due to a lack of 'push' by their custodians and some to the lack of 'pull' by policy-makers. Greater exploitation of these valuable resources would be facilitated by policy-makers' and custodians' increased awareness, minimisation of legal restrictions on data use, improvements in the quality of databases and a library of examples of applications to policy. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  9. Genetic analysis without replications: Model evaluation and application in spring wheat

    USDA-ARS?s Scientific Manuscript database

    Genetic data collected from plant breeding and genetic studies may not be replicated in field designs even though field variation is present. In this study, we addressed this problem using spring wheat (Triticum eastivum L.) trial data collected from two locations. There were no intra-location repl...

  10. Triparental families: a new genetic-epidemiological design applied to drug abuse, alcohol use disorders, and criminal behavior in a Swedish national sample.

    PubMed

    Kendler, Kenneth S; Ohlsson, Henrik; Sundquist, Jan; Sundquist, Kristina

    2015-06-01

    The authors sought to clarify the sources of parent-offspring resemblance for drug abuse, alcohol use disorders, and criminal behavior, using a novel genetic-epidemiological design. Using national registries, the authors identified rates of drug abuse, alcohol use disorders, and criminal behavior in 41,360 Swedish individuals born between 1960 and 1990 and raised in triparental families comprising a biological mother who reared them, a "not-lived-with" biological father, and a stepfather. When each syndrome was examined individually, hazard rates for drug abuse in offspring of parents with drug abuse were highest for mothers (2.80, 95% CI=2.23-3.38), intermediate for not-lived-with fathers (2.45, 95% CI=2.14-2.79), and lowest for stepfathers (1.99, 95% CI=1.55-2.56). The same pattern was seen for alcohol use disorders (2.23, 95% CI=1.93-2.58; 1.84, 95% CI=1.69-2.00; and 1.27, 95% CI=1.12-1.43) and criminal behavior (1.55, 95% CI=1.44-1.66; 1.46, 95% CI=1.40-1.52; and 1.30, 95% CI=1.23-1.37). When all three syndromes were examined together, specificity of cross-generational transmission was highest for mothers, intermediate for not-lived-with fathers, and lowest for stepfathers. Analyses of intact families and other not-lived-with parents and stepparents showed similar cross-generation transmission for these syndromes in mothers and fathers, supporting the representativeness of results from triparental families. A major strength of the triparental design is its inclusion, within a single family, of parents who provide, to a first approximation, their offspring with genes plus rearing, genes only, and rearing only. For drug abuse, alcohol use disorders, and criminal behavior, the results of this study suggest that parent-offspring transmission involves both genetic and environmental processes, with genetic factors being somewhat more important. These results should be interpreted in the context of the strengths and limitations of national registry data.

  11. The Double Helix: Applying an Ethic of Care to the Duty to Warn Genetic Relatives of Genetic Information.

    PubMed

    Weaver, Meaghann

    2016-03-01

    Genetic testing reveals information about a patient's health status and predictions about the patient's future wellness, while also potentially disclosing health information relevant to other family members. With the increasing availability and affordability of genetic testing and the integration of genetics into mainstream medicine, the importance of clarifying the scope of confidentiality and the rules regarding disclosure of genetic findings to genetic relatives is prime. The United Nations International Declaration on Human Genetic Data urges an appreciation for principles of equality, justice, solidarity and responsibility in the context of genetic testing, including a commitment to honoring the privacy and security of the person tested. Considering this global mandate and recent professional statements in the context of a legal amendment to patient privacy policies in Australia, a fresh scrutiny of the legal history of a physician's duty to warn is warranted. This article inquiries whether there may be anything ethically or socially amiss with a potential future recommendation for health professionals or patients to universally disclose particular cancer predisposition genetic diagnosis to genetic family members. While much of the discussion remains applicable to all genetic diagnosis, the article focuses on the practice of disclosure within the context of BRCA1/2 diagnosis. An 'ethic of care' interpretation of legal tradition and current practice will serve to reconcile law and medical policy on the issue of physician disclosure of genetic results to family members without patient consent. © 2015 John Wiley & Sons Ltd.

  12. Evaluation and Integration of Genetic Signature for Prediction Risk of Nasopharyngeal Carcinoma in Southern China

    PubMed Central

    Winkler, Cheryl A.; Li, Ji; Guan, Li; Tang, Minzhong; Liao, Jian; Deng, Hong; de Thé, Guy; Zeng, Yi; O'Brien, Stephen J.

    2014-01-01

    Genetic factors, as well as environmental factors, play a role in development of nasopharyngeal carcinoma (NPC). A number of single nucleotide polymorphisms (SNPs) have been reported to be associated with NPC. To confirm these genetic associations with NPC, two independent case-control studies from Southern China comprising 1166 NPC cases and 2340 controls were conducted. Seven SNPs in ITGA9 at 3p21.3 and 9 SNPs within the 6p21.3 HLA region were genotyped. To explore the potential clinical application of these genetic markers in NPC, we further evaluate the predictive/diagnostic role of significant SNPs by calculating the area under the curve (AUC). Results. The reported associations between ITGA9 variants and NPC were not replicated. Multiple loci of GABBR1, HLA-F, HLA-A, and HCG9 were statistically significant in both cohorts (P combined range from 5.96 × 10−17 to 0.02). We show for the first time that these factors influence NPC development independent of environmental risk factors. This study also indicated that the SNP alone cannot serve as a predictive/diagnostic marker for NPC. Integrating the most significant SNP with IgA antibodies status to EBV, which is presently used as screening/diagnostic marker for NPC in Chinese populations, did not improve the AUC estimate for diagnosis of NPC. PMID:25180181

  13. Evaluation and integration of genetic signature for prediction risk of nasopharyngeal carcinoma in Southern China.

    PubMed

    Guo, Xiuchan; Winkler, Cheryl A; Li, Ji; Guan, Li; Tang, Minzhong; Liao, Jian; Deng, Hong; de Thé, Guy; Zeng, Yi; O'Brien, Stephen J

    2014-01-01

    Genetic factors, as well as environmental factors, play a role in development of nasopharyngeal carcinoma (NPC). A number of single nucleotide polymorphisms (SNPs) have been reported to be associated with NPC. To confirm these genetic associations with NPC, two independent case-control studies from Southern China comprising 1166 NPC cases and 2340 controls were conducted. Seven SNPs in ITGA9 at 3p21.3 and 9 SNPs within the 6p21.3 HLA region were genotyped. To explore the potential clinical application of these genetic markers in NPC, we further evaluate the predictive/diagnostic role of significant SNPs by calculating the area under the curve (AUC). The reported associations between ITGA9 variants and NPC were not replicated. Multiple loci of GABBR1, HLA-F, HLA-A, and HCG9 were statistically significant in both cohorts (P(combined) range from 5.96 × 10(-17) to 0.02). We show for the first time that these factors influence NPC development independent of environmental risk factors. This study also indicated that the SNP alone cannot serve as a predictive/diagnostic marker for NPC. Integrating the most significant SNP with IgA antibodies status to EBV, which is presently used as screening/diagnostic marker for NPC in Chinese populations, did not improve the AUC estimate for diagnosis of NPC.

  14. The Heterogeneous HLA Genetic Makeup of the Swiss Population

    PubMed Central

    Buhler, Stéphane; Nunes, José Manuel; Nicoloso, Grazia; Tiercy, Jean-Marie; Sanchez-Mazas, Alicia

    2012-01-01

    This study aims at investigating the HLA molecular variation across Switzerland in order to determine possible regional differences, which would be highly relevant to several purposes: optimizing donor recruitment strategies in hematopoietic stem cell transplantation (HSCT), providing reliable reference data in HLA and disease association studies, and understanding the population genetic background(s) of this culturally heterogeneous country. HLA molecular data of more than 20,000 HSCT donors from 9–13 recruitment centers of the whole country were analyzed. Allele and haplotype frequencies were estimated by using new computer tools adapted to the heterogeneity and ambiguity of the data. Non-parametric and resampling statistical tests were performed to assess Hardy-Weinberg equilibrium, selective neutrality and linkage disequilibrium among different loci, both in each recruitment center and in the whole national registry. Genetic variation was explored through genetic distance and hierarchical analysis of variance taking into account both geographic and linguistic subdivisions in Switzerland. The results indicate a heterogeneous genetic makeup of the Swiss population: first, allele frequencies estimated on the whole national registry strongly deviate from Hardy-Weinberg equilibrium, by contrast with the results obtained for individual centers; second, a pronounced differentiation is observed for Ticino, Graubünden, and, to a lesser extent, Wallis, suggesting that the Alps represent(ed) a barrier to gene flow; finally, although cultural (linguistic) boundaries do not represent a main genetic differentiation factor in Switzerland, the genetic relatedness between population from south-eastern Switzerland and Italy agrees with historical and linguistic data. Overall, this study justifies the maintenance of a decentralized donor recruitment structure in Switzerland allowing increasing the genetic diversity of the national—and hence global—donor registry. It also

  15. Validating Self-Reports of Illegal Drug Use to Evaluate National Drug Control Policy: A Reanalysis and Critique

    ERIC Educational Resources Information Center

    Magura, Stephen

    2010-01-01

    Illicit drug use remains at high levels in the U.S. The federal Office of National Drug Control Policy evaluates the outcomes of national drug demand reduction policies by assessing annual changes in drug use from several federally sponsored annual national surveys. Such survey methods, relying exclusively on drug use as self-reported on…

  16. Genetic Simulation Tools for Post-Genome Wide Association Studies of Complex Diseases

    PubMed Central

    Amos, Christopher I.; Bafna, Vineet; Hauser, Elizabeth R.; Hernandez, Ryan D.; Li, Chun; Liberles, David A.; McAllister, Kimberly; Moore, Jason H.; Paltoo, Dina N.; Papanicolaou, George J.; Peng, Bo; Ritchie, Marylyn D.; Rosenfeld, Gabriel; Witte, John S.

    2014-01-01

    Genetic simulation programs are used to model data under specified assumptions to facilitate the understanding and study of complex genetic systems. Standardized data sets generated using genetic simulation are essential for the development and application of novel analytical tools in genetic epidemiology studies. With continuing advances in high-throughput genomic technologies and generation and analysis of larger, more complex data sets, there is a need for updating current approaches in genetic simulation modeling. To provide a forum to address current and emerging challenges in this area, the National Cancer Institute (NCI) sponsored a workshop, entitled “Genetic Simulation Tools for Post-Genome Wide Association Studies of Complex Diseases” at the National Institutes of Health (NIH) in Bethesda, Maryland on March 11-12, 2014. The goals of the workshop were to: (i) identify opportunities, challenges and resource needs for the development and application of genetic simulation models; (ii) improve the integration of tools for modeling and analysis of simulated data; and (iii) foster collaborations to facilitate development and applications of genetic simulation. During the course of the meeting the group identified challenges and opportunities for the science of simulation, software and methods development, and collaboration. This paper summarizes key discussions at the meeting, and highlights important challenges and opportunities to advance the field of genetic simulation. PMID:25371374

  17. Genetics Home Reference: glutaric acidemia type I

    MedlinePlus

    ... Acidemia I Orphanet: Glutaryl-CoA dehydrogenase deficiency Screening, Technology and Research in Genetics Virginia Department of Health (PDF) Patient Support and Advocacy Resources (3 links) Children Living with Inherited Metabolic Diseases (CLIMB) National Organization ...

  18. Genetic diversity analysis of Gossypium arboreum germplasm accessions using genotyping-by-sequencing.

    PubMed

    Li, Ruijuan; Erpelding, John E

    2016-10-01

    The diploid cotton species Gossypium arboreum possesses many favorable agronomic traits such as drought tolerance and disease resistance, which can be utilized in the development of improved upland cotton cultivars. The USDA National Plant Germplasm System maintains more than 1600 G. arboreum accessions. Little information is available on the genetic diversity of the collection thereby limiting the utilization of this cotton species. The genetic diversity and population structure of the G. arboreum germplasm collection were assessed by genotyping-by-sequencing of 375 accessions. Using genome-wide single nucleotide polymorphism sequence data, two major clusters were inferred with 302 accessions in Cluster 1, 64 accessions in Cluster 2, and nine accessions unassigned due to their nearly equal membership to each cluster. These two clusters were further evaluated independently resulting in the identification of two sub-clusters for the 302 Cluster 1 accessions and three sub-clusters for the 64 Cluster 2 accessions. Low to moderate genetic diversity between clusters and sub-clusters were observed indicating a narrow genetic base. Cluster 2 accessions were more genetically diverse and the majority of the accessions in this cluster were landraces. In contrast, Cluster 1 is composed of varieties or breeding lines more recently added to the collection. The majority of the accessions had kinship values ranging from 0.6 to 0.8. Eight pairs of accessions were identified as potential redundancies due to their high kinship relatedness. The genetic diversity and genotype data from this study are essential to enhance germplasm utilization to identify genetically diverse accessions for the detection of quantitative trait loci associated with important traits that would benefit upland cotton improvement.

  19. Evaluation and Characterization of Health Economics and Outcomes Research in SAARC Nations.

    PubMed

    Mehta, Manthan; Nerurkar, Rajan

    2018-05-01

    To identify, evaluate, and characterize the variety, quality, and intent of the health economics and outcomes research studies being conducted in SAARC (South Asian Association for Regional Cooperation) nations. Studies published in English language between 1990 and 2015 were retrieved from Medline databases using relevant search strategies. Studies were independently reviewed as per Cochrane methodology and information on the type of research and outcomes were extracted. Quality of reporting was assessed. Of the 2638 studies screened from eight SAARC nations, a total of 179 were included for review (India = 140; Bangladesh = 12; Sri Lanka = 8; Pakistan = 7; Afghanistan = 5; Nepal = 4; Bhutan = 2; Maldives = 1). The broad study categories were cost-effectiveness analyses (CEAs = 76 studies), cost analyses (35 studies), and burden of illness (BOI=26 studies). The outcomes evaluated were direct costs, indirect costs, and incremental cost-effectiveness ratio (ICER), quality-adjusted life-years (QALYs), and disability-adjusted life-years (DALYs). Cost of medicines, consultation and hospital charges, and monitoring costs were assessed as direct medical costs along with non-direct medical costs such as travel and food for patients and caregivers. The components of indirect costs were loss of income of patients and caregivers and loss of productivity. Quality of life (QoL) was assessed in 48 studies. The most commonly used instrument for assessing QoL was the WHO-Quality of Life BREF (WHOQOL-BREF) questionnaire (76%). The Quality of Health Economic Studies (QHES) score was used for quality assessment of full economic studies (44 studies). The mean QHES score was 43.76. This review identifies various patterns of health economic studies in eight SAARC nations. The quality of economic evaluation studies for health care in India, Bangladesh, Sri Lanka, Pakistan, Afghanistan, Nepal, Bhutan, and Maldives needs improvement. There is a need to generate the capacity of researchers

  20. Cancer Genetics and Signaling | Center for Cancer Research

    Cancer.gov

    The Cancer, Genetics, and Signaling (CGS) Group at the National Cancer Institute at Frederick  offers a competitive postdoctoral training and mentoring program focusing on molecular and genetic aspects of cancer. The CGS Fellows Program is designed to attract and train exceptional postdoctoral fellows interested in pursuing independent research career tracks. CGS Fellows participate in a structured mentoring program designed for scientific and career development and transition to independent positions.

  1. Bioethics in the Malay-Muslim Community in Malaysia: A Study on the Formulation of Fatwa on Genetically Modified Food by the National Fatwa Council.

    PubMed

    Isa, Noor Munirah; Baharuddin, Azizan; Man, Saadan; Chang, Lee Wei

    2015-12-01

    The field of bioethics aims to ensure that modern scientific and technological advancements have been primarily developed for the benefits of humankind. This field is deeply rooted in the traditions of Western moral philosophy and socio-political theory. With respect to the view that the practice of bioethics in certain community should incorporate religious and cultural elements, this paper attempts to expound bioethical tradition of the Malay-Muslim community in Malaysia, with shedding light on the mechanism used by the National Fatwa Council to evaluate whether an application of biological sciences is ethical or not. By using the application of the genetically modified food as a case study, this study has found that the council had reviewed the basic guidelines in the main references of shari'ah in order to make decision on the permissibility of the application. The fatwa is made after having consultation with the experts in science field. The council has taken all factors into consideration and given priority to the general aim of shari'ah which to serve the interests of mankind and to save them from harm. © 2014 John Wiley & Sons Ltd.

  2. Regional Genetic Structure and Environmental Variables Influence our Conservation Approach for Feather Heads (Ptilotus macrocephalus)

    PubMed Central

    2016-01-01

    Continued alterations to the Australian environment compromise the long-term viability of many plant species. We investigate the population genetics of Ptilotus macrocephalus, a perennial herb that occurs in 2 nationally endangered communities on the Victorian Volcanic Plain Bioregion (VVP), Australia, to answer key questions regarding regional differentiation and to guide conservation strategies. We evaluate genetic structure and diversity within and among 17 P. macrocephalus populations from 3 regions of southeastern Australia using 17 microsatellite markers developed de novo. Genetic structure was present in P. macrocephalus between the 3 regions but not at the population level. Environmental factors, namely temperature and precipitation, significantly explained differentiation between the North region and the other 2 regions indicating isolation by environment. Within regions, genetic structure currently shows a high level of gene flow and genetic variation. Our results suggest that within-region gene flow does not reflect current habitat fragmentation in southeastern Australia whereas temperature and precipitation are likely to be responsible for the differentiation detected among regions. Climate change may severely impact P. macrocephalus on the VVP and test its evolutionary resilience. We suggest taking a proactive conservation approach to improve long-term viability by sourcing material for restoration to assist gene flow to the VVP region to promote an increased adaptive capacity. PMID:26865733

  3. A system for evaluating the use of media in CDC's National AIDS Information and Education Program.

    PubMed

    Salmon, C T; Jason, J

    1991-01-01

    The National AIDS Information and Education Program (NAIEP) commissioned the National Academy of Sciences to design a prototypical system of research for use in the evaluation of the agency's media campaign. It consists of four types of evaluation: formative, efficacy, process, and outcome. These types of evaluations are used to answer such questions as the following: What message strategies will work best? Can a campaign under optimal conditions be expected to make a difference? What interventions are actually delivered during the campaign? Has the campaign actually had an impact? How NAIEP has used the system and adapted it during 1 year of research activities is outlined, and examples from a variety of other social marketing programs are described.

  4. Regional Genetic Structure and Environmental Variables Influence our Conservation Approach for Feather Heads (Ptilotus macrocephalus).

    PubMed

    Ahrens, Collin W; James, Elizabeth A

    2016-05-01

    Continued alterations to the Australian environment compromise the long-term viability of many plant species. We investigate the population genetics of Ptilotus macrocephalus, a perennial herb that occurs in 2 nationally endangered communities on the Victorian Volcanic Plain Bioregion (VVP), Australia, to answer key questions regarding regional differentiation and to guide conservation strategies. We evaluate genetic structure and diversity within and among 17 P. macrocephalus populations from 3 regions of southeastern Australia using 17 microsatellite markers developed de novo. Genetic structure was present in P. macrocephalus between the 3 regions but not at the population level. Environmental factors, namely temperature and precipitation, significantly explained differentiation between the North region and the other 2 regions indicating isolation by environment. Within regions, genetic structure currently shows a high level of gene flow and genetic variation. Our results suggest that within-region gene flow does not reflect current habitat fragmentation in southeastern Australia whereas temperature and precipitation are likely to be responsible for the differentiation detected among regions. Climate change may severely impact P. macrocephalus on the VVP and test its evolutionary resilience. We suggest taking a proactive conservation approach to improve long-term viability by sourcing material for restoration to assist gene flow to the VVP region to promote an increased adaptive capacity. © The American Genetic Association. 2016. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  5. The comparative evaluation of expanded national immunization policies in Korea using an analytic hierarchy process.

    PubMed

    Shin, Taeksoo; Kim, Chun-Bae; Ahn, Yang-Heui; Kim, Hyo-Youl; Cha, Byung Ho; Uh, Young; Lee, Joo-Heon; Hyun, Sook-Jung; Lee, Dong-Han; Go, Un-Yeong

    2009-01-29

    The purpose of this paper is to propose new evaluation criteria and an analytic hierarchy process (AHP) model to assess the expanded national immunization programs (ENIPs) and to evaluate two alternative health care policies. One of the alternative policies is that private clinics and hospitals would offer free vaccination services to children and the other of them is that public health centers would offer these free vaccination services. Our model to evaluate the ENIPs was developed using brainstorming, Delphi techniques, and the AHP model. We first used the brainstorming and Delphi techniques, as well as literature reviews, to determine 25 criteria with which to evaluate the national immunization policy; we then proposed a hierarchical structure of the AHP model to assess ENIPs. By applying the proposed AHP model to the assessment of ENIPs for Korean immunization policies, we show that free vaccination services should be provided by private clinics and hospitals rather than public health centers.

  6. Genetic evaluation of a Great Lakes lake trout hatchery program

    USGS Publications Warehouse

    Page, K.S.; Scribner, K.T.; Bast, D.; Holey, M.E.; Burnham-Curtis, M. K.

    2005-01-01

    Efforts over several decades to restore lake trout Salvelinus namaycush in U.S. waters of the upper Great Lakes have emphasized the stocking of juveniles from each of six hatchery broodstocks. Retention of genetic diversity across all offspring life history stages throughout the hatchery system has been an important component of the restoration hatchery and stocking program. Different stages of the lake trout hatchery program were examined to determine how effective hatchery practices have been in minimizing the loss of genetic diversity in broodstock adults and in progeny stocked. Microsatellite loci were used to estimate allele frequencies, measures of genetic diversity, and relatedness for wild source populations, hatchery broodstocks, and juveniles. We also estimated the effective number of breeders for each broodstock. Hatchery records were used to track destinations of fertilized eggs from all spawning dates to determine whether adult contributions to stocking programs were proportional to reproductive effort. Overall, management goals of maintaining genetic diversity were met across all stages of the hatchery program; however, we identified key areas where changes in mating regimes and in the distribution of fertilized gametes and juveniles could be improved. Estimates of effective breeding population size (Nb) were 9-41% of the total number of adults spawned. Low estimates of Nb were primarily attributed to spawning practices, including the pooling of gametes from multiple males and females and the reuse of males. Nonrandom selection and distribution of fertilized eggs before stocking accentuated declines in effective breeding population size and increased levels of relatedness of juveniles distributed to different rearing facilities and stocking locales. Adoption of guidelines that decrease adult reproductive variance and promote more equitable reproductive contributions of broodstock adults to juveniles would further enhance management goals of

  7. 76 FR 57064 - National Institute on Aging; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-09-15

    ... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute on Aging... personal privacy. Name of Committee: National Institute on Aging Special Emphasis Panel, AD Genetics... Person: William Cruce, PhD, Scientific Review Officer, National Institute on Aging, Scientific Review...

  8. Genetic privacy and non-discrimination.

    PubMed

    Romeo Casabona, Carlos María

    2011-01-01

    The UN Inter-Agency Committee on Bioethics met for its tenth meeting at the UNESCO headquarters in Paris on 4-5th March 2011. Member organisations such as the WHO and UNESCO were in attendance alongside associate members such as the Council for Europe, the European Commission, the Organisation for Economic Co-operation and Development and the World Trade Organisation. Discussion centred on the theme "genetic privacy and nondiscrimination". The United Nations Economic and Social Council (ECOSOC) had previously considered, from a legal and ethical perspective, the implications of increasingly sophisticated technologies for genetic privacy and non-discrimination in fields such as medicine, employment and insurance. Thus, the ECOSOC requested that UNESCO report on relevant developments in the field of genetic privacy and non-discrimination. In parallel with a consultation process with member states, UNESCO launched a consultation with the UN Interagency Committee on Bioethics. This article analyses the report presented by the author concerning the analysis of the current contentions in the field and illustrates attempts at responding on a normative level to a perceived threat to genetic privacy and non-discrimination.

  9. The Congenital Heart Disease Genetic Network Study: rationale, design, and early results.

    PubMed

    Gelb, Bruce; Brueckner, Martina; Chung, Wendy; Goldmuntz, Elizabeth; Kaltman, Jonathan; Kaski, Juan Pablo; Kim, Richard; Kline, Jennie; Mercer-Rosa, Laura; Porter, George; Roberts, Amy; Rosenberg, Ellen; Seiden, Howard; Seidman, Christine; Sleeper, Lynn; Tennstedt, Sharon; Kaltman, Jonathan; Schramm, Charlene; Burns, Kristin; Pearson, Gail; Rosenberg, Ellen

    2013-02-15

    Congenital heart defects (CHD) are the leading cause of infant mortality among birth defects, and later morbidities and premature mortality remain problematic. Although genetic factors contribute significantly to cause CHD, specific genetic lesions are unknown for most patients. The National Heart, Lung, and Blood Institute-funded Pediatric Cardiac Genomics Consortium established the Congenital Heart Disease Genetic Network Study to investigate relationships between genetic factors, clinical features, and outcomes in CHD. The Pediatric Cardiac Genomics Consortium comprises 6 main and 4 satellite sites at which subjects are recruited, and medical data and biospecimens (blood, saliva, cardiovascular tissue) are collected. Core infrastructure includes an administrative/data-coordinating center, biorepository, data hub, and core laboratories (genotyping, whole-exome sequencing, candidate gene evaluation, and variant confirmation). Eligibility includes all forms of CHD. Annual follow-up is obtained for probands <1-year-old. Parents are enrolled whenever available. Enrollment from December 2010 to June 2012 comprised 3772 probands. One or both parents were enrolled for 72% of probands. Proband median age is 5.5 years. The one third enrolled at age <1 year are contacted annually for follow-up information. The distribution of CHD favors more complex lesions. Approximately, 11% of probands have a genetic diagnosis. Adequate DNA is available from 97% and 91% of blood and saliva samples, respectively. Genomic analyses of probands with heterotaxy, atrial septal defects, conotruncal, and left ventricular outflow tract obstructive lesions are underway. The scientific community's use of Pediatric Cardiac Genomics Consortium resources is welcome.

  10. Genetic evaluation of egg production curve in Thai native chickens by random regression and spline models.

    PubMed

    Mookprom, S; Boonkum, W; Kunhareang, S; Siripanya, S; Duangjinda, M

    2017-02-01

    The objective of this research is to investigate appropriate random regression models with various covariance functions, for the genetic evaluation of test-day egg production. Data included 7,884 monthly egg production records from 657 Thai native chickens (Pradu Hang Dam) that were obtained during the first to sixth generation and were born during 2007 to 2014 at the Research and Development Network Center for Animal Breeding (Native Chickens), Khon Kaen University. Average annual and monthly egg productions were 117 ± 41 and 10.20 ± 6.40 eggs, respectively. Nine random regression models were analyzed using the Wilmink function (WM), Koops and Grossman function (KG), Legendre polynomials functions with second, third, and fourth orders (LG2, LG3, LG4), and spline functions with 4, 5, 6, and 8 knots (SP4, SP5, SP6, and SP8). All covariance functions were nested within the same additive genetic and permanent environmental random effects, and the variance components were estimated by Restricted Maximum Likelihood (REML). In model comparisons, mean square error (MSE) and the coefficient of detemination (R 2 ) calculated the goodness of fit; and the correlation between observed and predicted values [Formula: see text] was used to calculate the cross-validated predictive abilities. We found that the covariance functions of SP5, SP6, and SP8 proved appropriate for the genetic evaluation of the egg production curves for Thai native chickens. The estimated heritability of monthly egg production ranged from 0.07 to 0.39, and the highest heritability was found during the first to third months of egg production. In conclusion, the spline functions within monthly egg production can be applied to breeding programs for the improvement of both egg number and persistence of egg production. © 2016 Poultry Science Association Inc.

  11. Next Generation Analytic Tools for Large Scale Genetic Epidemiology Studies of Complex Diseases

    PubMed Central

    Mechanic, Leah E.; Chen, Huann-Sheng; Amos, Christopher I.; Chatterjee, Nilanjan; Cox, Nancy J.; Divi, Rao L.; Fan, Ruzong; Harris, Emily L.; Jacobs, Kevin; Kraft, Peter; Leal, Suzanne M.; McAllister, Kimberly; Moore, Jason H.; Paltoo, Dina N.; Province, Michael A.; Ramos, Erin M.; Ritchie, Marylyn D.; Roeder, Kathryn; Schaid, Daniel J.; Stephens, Matthew; Thomas, Duncan C.; Weinberg, Clarice R.; Witte, John S.; Zhang, Shunpu; Zöllner, Sebastian; Feuer, Eric J.; Gillanders, Elizabeth M.

    2012-01-01

    Over the past several years, genome-wide association studies (GWAS) have succeeded in identifying hundreds of genetic markers associated with common diseases. However, most of these markers confer relatively small increments of risk and explain only a small proportion of familial clustering. To identify obstacles to future progress in genetic epidemiology research and provide recommendations to NIH for overcoming these barriers, the National Cancer Institute sponsored a workshop entitled “Next Generation Analytic Tools for Large-Scale Genetic Epidemiology Studies of Complex Diseases” on September 15–16, 2010. The goal of the workshop was to facilitate discussions on (1) statistical strategies and methods to efficiently identify genetic and environmental factors contributing to the risk of complex disease; and (2) how to develop, apply, and evaluate these strategies for the design, analysis, and interpretation of large-scale complex disease association studies in order to guide NIH in setting the future agenda in this area of research. The workshop was organized as a series of short presentations covering scientific (gene-gene and gene-environment interaction, complex phenotypes, and rare variants and next generation sequencing) and methodological (simulation modeling and computational resources and data management) topic areas. Specific needs to advance the field were identified during each session and are summarized. PMID:22147673

  12. Evaluation of the genetic structure of sika deer (Cervus nippon) in Japan's Kanto and Tanzawa mountain areas, based on microsatellite markers.

    PubMed

    Konishi, Sayaka; Hata, Shoko; Matsuda, Sayumi; Arai, Kazushi; Mizoguchi, Yasushi

    2017-11-01

    The browsing habits of sika deer (Cervus nippon) in Japan have caused serious ecological problems. Appropriate management of sika deer populations requires understanding the different genetic structures of local populations. In the present study, we used 10 microsatellite polymorphisms to explore the genetic structures of sika deer populations (162 individuals) living in the Kanto region. The expected heterozygosity of the Tanzawa mountain range population (Group I) was lower than that of the populations in the Kanto mountain areas (Group II). Our results suggest that moderate gene flow has occurred between the sika deer populations in the Kanto mountain areas (Group II), but not to or from the Tanzawa mountain range population (Group I). Also, genetic structure analysis showed that the Tanzawa population was separated from the other populations. This is probably attributable to a genetic bottleneck that developed in the Tanzawa sika deer population in the 1950s. However, we found that the Tanzawa population has since recovered from the bottleneck situation and now exhibits good genetic diversity. Our results show that it is essential to periodically evaluate the genetic structures of deer populations to develop conservation strategies appropriate to the specific structures of individual populations at any given time. © 2017 Japanese Society of Animal Science.

  13. Genetically engineering milk.

    PubMed

    Whitelaw, C Bruce A; Joshi, Akshay; Kumar, Satish; Lillico, Simon G; Proudfoot, Chris

    2016-02-01

    It has been thirty years since the first genetically engineered animal with altered milk composition was reported. During the intervening years, the world population has increased from 5bn to 7bn people. An increasing demand for protein in the human diet has followed this population expansion, putting huge stress on the food supply chain. Many solutions to the grand challenge of food security for all have been proposed and are currently under investigation and study. Amongst these, genetics still has an important role to play, aiming to continually enable the selection of livestock with enhanced traits. Part of the geneticist's tool box is the technology of genetic engineering. In this Invited Review, we indicate that this technology has come a long way, we focus on the genetic engineering of dairy animals and we argue that the new strategies for precision breeding demand proper evaluation as to how they could contribute to the essential increases in agricultural productivity our society must achieve.

  14. Association of education & lifestyle factors with the perception of genetic knowledge on the development of lung cancer.

    PubMed

    Wang, Liang; Wang, Kesheng; Liu, Xuefeng; He, Yi

    2016-05-01

    The perception of genetic knowledge is useful for improving the heath behaviour change against developing cancers. However, no studies have investigated the perception of genetic knowledge on the development of lung cancer. The aim of this study was to examine demographic and lifestyle factors of the perception of genetic knowledge on the development of lung cancer. Data on 2,295 US adults (739 had the perception of genetic knowledge) were taken from the 2003 Health Information National Trends Survey. Multiple logistic regression models were used to evaluate potential factors of the perception of genetic knowledge of lung cancer. Participants aged ≥65 yr were more likely to have the perception of genetic knowledge than those aged 18-44 yr (OR=1.77, 95% CI=1.27-2.46). Higher education was associated with a greater perception of genetic knowledge (OR=1.47, 95% CI=1.16-1.87). Subjects with correct smoking attitude were more than three times more likely to have the perception of genetic knowledge (OR=3.15, 95% CI=2.10-4.72). Subjects with exercise were at an increased likelihood of having the perception of genetic knowledge than those without exercise (OR=1.63, 95% CI=1.24-2.13). Positive associations were observed between education and lifestyle factors and the perception of genetic knowledge on the development of lung cancer among US adults. Strategies developed to improve the perception of genetic knowledge of lung cancer may target on individuals who are young, less educated, and lack correct smoking attitude or exercise.

  15. Evaluation of a genetically modified foot-and-mouth disease virus vaccine candidate generated by reverse genetics

    PubMed Central

    2012-01-01

    Background Foot-and-mouth disease (FMD) is the most economically important and highly contagious disease of cloven-hoofed animals worldwide. Control of the disease has been mainly based on large-scale vaccinations with whole-virus inactivated vaccines. In recent years, a series of outbreaks of type O FMD occurred in China (including Chinese Taipei, Chinese Hong Kong) posed a tremendous threat to Chinese animal husbandry. Its causative agent, type O FMDV, has evolved into three topotypes (East–South Asia (ME-SA), Southeast Asia (SEA), Cathay (CHY)) in these regions, which represents an important obstacle to disease control. The available FMD vaccine in China shows generally good protection against ME-SA and SEA topotype viruses infection, but affords insufficient protection against some variants of the CHY topotype. Therefore, the choice of a new vaccine strain is of fundamental importance. Results The present study describes the generation of a full-length infectious cDNA clone of FMDV vaccine strain and a genetically modified virus with some amino acid substitutions in antigenic sites 1, 3, and 4, based on the established infectious clone. The recombinant viruses had similar growth properties to the wild O/HN/CHA/93 virus. All swine immunized with inactivated vaccine prepared from the O/HN/CHA/93 were fully protected from challenge with the viruses of ME-SA and SEA topotypes and partially protected against challenge with the virus of CHY topotype at 28 days post-immunization. In contrast, the swine inoculated with the genetically modified vaccine were completely protected from the infection of viruses of the three topotypes. Conclusions Some amino acid substitutions in the FMDV vaccine strain genome did not have an effect on the ability of viral replication in vitro. The vaccine prepared from genetically modified FMDV by reverse genetics significantly improved the protective efficacy to the variant of the CHY topotype, compared with the wild O/HN/CHA/93 virus

  16. Evaluating national cause-of-death statistics: principles and application to the case of China.

    PubMed Central

    Rao, Chalapati; Lopez, Alan D.; Yang, Gonghuan; Begg, Stephen; Ma, Jiemin

    2005-01-01

    Mortality statistics systems provide basic information on the levels and causes of mortality in populations. Only a third of the world's countries have complete civil registration systems that yield adequate cause-specific mortality data for health policy-making and monitoring. This paper describes the development of a set of criteria for evaluating the quality of national mortality statistics and applies them to China as an example. The criteria cover a range of structural, statistical and technical aspects of national mortality data. Little is known about cause-of-death data in China, which is home to roughly one-fifth of the world's population. These criteria were used to evaluate the utility of data from two mortality statistics systems in use in China, namely the Ministry of Health-Vital Registration (MOH-VR) system and the Disease Surveillance Point (DSP) system. We concluded that mortality registration was incomplete in both. No statistics were available for geographical subdivisions of the country to inform resource allocation or for the monitoring of health programmes. Compilation and publication of statistics is irregular in the case of the DSP, and they are not made publicly available at all by the MOH-VR. More research is required to measure the content validity of cause-of-death attribution in the two systems, especially due to the use of verbal autopsy methods in rural areas. This framework of criteria-based evaluation is recommended for the evaluation of national mortality data in developing countries to determine their utility and to guide efforts to improve their value for guiding policy. PMID:16184281

  17. Genetic Monitoring and Evaluation Program for Supplemented Populations of Salmon and Steelhead in the Snake River Basin, 1990-1991 Annual Report.

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Waples, Robin S.; Teel, David J.; Aebersold, Paul B.

    This is the first report of research for an ongoing study to evaluate the genetic effects of using hatchery-reared fish to supplement natural populations of chinook salmon and steelhead in the Snake River Basin.

  18. National Plant Germplasm System: Critical Role of Customer Service

    USDA-ARS?s Scientific Manuscript database

    The National Plant Germplasm System (NPGS) conserves plant genetic resources, not only for use by future generations, but for immediate use by scientists and educators around the world. With a great deal of interaction between genebank curators and users of plant genetic resources, customer service...

  19. Laws Restricting Health Insurers' Use of Genetic Information: Impact on Genetic Discrimination

    PubMed Central

    Hall, Mark A.; Rich, Stephen S.

    2000-01-01

    Summary Since 1991, 28 states have enacted laws that prohibit insurers' use of genetic information in pricing, issuing, or structuring health insurance. This article evaluates whether these laws reduce the extent of genetic discrimination by health insurers. From the data collected at multiple sites, we find that there are almost no well-documented cases of health insurers either asking for or using presymptomatic genetic test results in their underwriting decisions, either (a) before or after these laws have been enacted or (b) in states with or without these laws. By using both in-person interviews with insurers and a direct market test, we found that a person with a serious genetic condition who is presymptomatic faces little or no difficulty in obtaining health insurance. Furthermore, there are few indications that the degree of difficulty varies according to whether a state regulates the use of genetic information. Nevertheless, these laws have made it less likely that insurers will use genetic information in the future. Although insurers and agents are only vaguely aware of these laws, the laws have shaped industry norms and attitudes about the legitimacy of using this information. PMID:10631158

  20. Evaluating postdoctoral dental candidates: assessing the need and recommendations for a national qualifying examination.

    PubMed

    Brodie, Abby J; Crow, Heidi C; Eber, Robert M; Handysides, Robert; Holexa, Roy; Kiat-amnuay, Sudarat; Spallek, Heiko

    2011-06-01

    Increasingly, U.S. dental schools report pass/fail grades and do not rank students. In addition, the Joint Commission on National Dental Examinations will report National Board Dental Examination (NBDE) scores as pass/fail after January 1, 2012. This article discusses how these changes will force postdoctoral dental program directors to modify how they assess candidates and how noncognitive evaluations might enhance those assessments. The authors propose developing a national qualifying examination for postdoctoral dental programs that will measure knowledge, decision making, and noncognitive traits including empathy, self-confidence, integrity, and emotional intelligence. Without NBDE scores, class rank, and GPA as a basis for decision making, a single national qualifying examination would assist postdoctoral programs in selecting high-quality candidates based on knowledge, critical thinking skills, and noncognitive traits.

  1. Evaluation of a Genetic Risk Score to Improve Risk Prediction for Alzheimer's Disease.

    PubMed

    Chouraki, Vincent; Reitz, Christiane; Maury, Fleur; Bis, Joshua C; Bellenguez, Celine; Yu, Lei; Jakobsdottir, Johanna; Mukherjee, Shubhabrata; Adams, Hieab H; Choi, Seung Hoan; Larson, Eric B; Fitzpatrick, Annette; Uitterlinden, Andre G; de Jager, Philip L; Hofman, Albert; Gudnason, Vilmundur; Vardarajan, Badri; Ibrahim-Verbaas, Carla; van der Lee, Sven J; Lopez, Oscar; Dartigues, Jean-François; Berr, Claudine; Amouyel, Philippe; Bennett, David A; van Duijn, Cornelia; DeStefano, Anita L; Launer, Lenore J; Ikram, M Arfan; Crane, Paul K; Lambert, Jean-Charles; Mayeux, Richard; Seshadri, Sudha

    2016-06-18

    Effective prevention of Alzheimer's disease (AD) requires the development of risk prediction tools permitting preclinical intervention. We constructed a genetic risk score (GRS) comprising common genetic variants associated with AD, evaluated its association with incident AD and assessed its capacity to improve risk prediction over traditional models based on age, sex, education, and APOEɛ4. In eight prospective cohorts included in the International Genomics of Alzheimer's Project (IGAP), we derived weighted sum of risk alleles from the 19 top SNPs reported by the IGAP GWAS in participants aged 65 and older without prevalent dementia. Hazard ratios (HR) of incident AD were estimated in Cox models. Improvement in risk prediction was measured by the difference in C-index (Δ-C), the integrated discrimination improvement (IDI) and continuous net reclassification improvement (NRI>0). Overall, 19,687 participants at risk were included, of whom 2,782 developed AD. The GRS was associated with a 17% increase in AD risk (pooled HR = 1.17; 95% CI =   [1.13-1.21] per standard deviation increase in GRS; p-value =  2.86×10-16). This association was stronger among persons with at least one APOEɛ4 allele (HRGRS = 1.24; 95% CI =   [1.15-1.34]) than in others (HRGRS = 1.13; 95% CI =   [1.08-1.18]; pinteraction = 3.45×10-2). Risk prediction after seven years of follow-up showed a small improvement when adding the GRS to age, sex, APOEɛ4, and education (Δ-Cindex =  0.0043 [0.0019-0.0067]). Similar patterns were observed for IDI and NRI>0. In conclusion, a risk score incorporating common genetic variation outside the APOEɛ4 locus improved AD risk prediction and may facilitate risk stratification for prevention trials.

  2. Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.

    PubMed

    McNally, Elizabeth M; Mestroni, Luisa

    2017-09-15

    Nonischemic dilated cardiomyopathy (DCM) often has a genetic pathogenesis. Because of the large number of genes and alleles attributed to DCM, comprehensive genetic testing encompasses ever-increasing gene panels. Genetic diagnosis can help predict prognosis, especially with regard to arrhythmia risk for certain subtypes. Moreover, cascade genetic testing in family members can identify those who are at risk or with early stage disease, offering the opportunity for early intervention. This review will address diagnosis and management of DCM, including the role of genetic evaluation. We will also overview distinct genetic pathways linked to DCM and their pathogenetic mechanisms. Historically, cardiac morphology has been used to classify cardiomyopathy subtypes. Determining genetic variants is emerging as an additional adjunct to help further refine subtypes of DCM, especially where arrhythmia risk is increased, and ultimately contribute to clinical management. © 2017 American Heart Association, Inc.

  3. Genetic variability of an endangered Bromeliaceae species (Pitcairnia albiflos) from the Brazilian Atlantic rainforest.

    PubMed

    Domingues, R; Machado, M A; Forzza, R C; Melo, T D; Wohlres-Viana, S; Viccini, L F

    2011-10-13

    Pitcairnia albiflos is a Bromeliaceae species endemic to Brazil that has been included as data-deficient in the extinction risk list of Brazilian flora. We analyzed genetic variability in P. albiflos populations using RAPD markers to investigate population structure and reproductive mechanisms and also to evaluate the actual extinction risk level of this species. Leaves of 56 individuals of P. albiflos from three populations were collected: Urca Hill (UH, 20 individuals), Chacrinha State Park (CSP, 24 individuals) and Tijuca National Park (TNP, 12 individuals). The RAPD technique was effective in characterizing the genetic diversity in the P. albiflos populations since it was possible to differentiate the populations and to identify exclusive bands for at least two of them. Even if there is low genetic diversity among them (CSP-UH = 0.463; CSP-TNP = 0.440; UH-TNP = 0.524), the populations seem to be isolated according to the low genetic diversity observed within them (H(pop) CSP = 0.060; H(pop) UH = 0.042; H(pop) TNP = 0.130). This fact might be the result of clonal and self-reproduction predominance and also from environmental degradation around the collection areas. Consequently, it would be important to protect all populations both in situ and ex situ to prevent the decrease of genetic variability. The low genetic variability among individuals of the same population confirms the inclusion of this species as critically endangered in the risk list for Brazilian flora.

  4. Using Rainfall and Temperature Data in the Evaluation of National Malaria Control Programs in Africa

    PubMed Central

    Thomson, Madeleine C.; Ukawuba, Israel; Hershey, Christine L.; Bennett, Adam; Ceccato, Pietro; Lyon, Bradfield; Dinku, Tufa

    2017-01-01

    Abstract. Since 2010, the Roll Back Malaria (RBM) Partnership, including National Malaria Control Programs, donor agencies (e.g., President's Malaria Initiative and Global Fund), and other stakeholders have been evaluating the impact of scaling up malaria control interventions on all-cause under-five mortality in several countries in sub-Saharan Africa. The evaluation framework assesses whether the deployed interventions have had an impact on malaria morbidity and mortality and requires consideration of potential nonintervention influencers of transmission, such as drought/floods or higher temperatures. Herein, we assess the likely effect of climate on the assessment of the impact malaria interventions in 10 priority countries/regions in eastern, western, and southern Africa for the President's Malaria Initiative. We used newly available quality controlled Enhanced National Climate Services rainfall and temperature products as well as global climate products to investigate likely impacts of climate on malaria evaluations and test the assumption that changing the baseline period can significantly impact on the influence of climate in the assessment of interventions. Based on current baseline periods used in national malaria impact assessments, we identify three countries/regions where current evaluations may overestimate the impact of interventions (Tanzania, Zanzibar, Uganda) and three countries where current malaria evaluations may underestimate the impact of interventions (Mali, Senegal and Ethiopia). In four countries (Rwanda, Malawi, Mozambique, and Angola) there was no strong difference in climate suitability for malaria in the pre- and post-intervention period. In part, this may be due to data quality and analysis issues. PMID:28990912

  5. Using Rainfall and Temperature Data in the Evaluation of National Malaria Control Programs in Africa.

    PubMed

    Thomson, Madeleine C; Ukawuba, Israel; Hershey, Christine L; Bennett, Adam; Ceccato, Pietro; Lyon, Bradfield; Dinku, Tufa

    2017-09-01

    Since 2010, the Roll Back Malaria (RBM) Partnership, including National Malaria Control Programs, donor agencies (e.g., President's Malaria Initiative and Global Fund), and other stakeholders have been evaluating the impact of scaling up malaria control interventions on all-cause under-five mortality in several countries in sub-Saharan Africa. The evaluation framework assesses whether the deployed interventions have had an impact on malaria morbidity and mortality and requires consideration of potential nonintervention influencers of transmission, such as drought/floods or higher temperatures. Herein, we assess the likely effect of climate on the assessment of the impact malaria interventions in 10 priority countries/regions in eastern, western, and southern Africa for the President's Malaria Initiative. We used newly available quality controlled Enhanced National Climate Services rainfall and temperature products as well as global climate products to investigate likely impacts of climate on malaria evaluations and test the assumption that changing the baseline period can significantly impact on the influence of climate in the assessment of interventions. Based on current baseline periods used in national malaria impact assessments, we identify three countries/regions where current evaluations may overestimate the impact of interventions (Tanzania, Zanzibar, Uganda) and three countries where current malaria evaluations may underestimate the impact of interventions (Mali, Senegal and Ethiopia). In four countries (Rwanda, Malawi, Mozambique, and Angola) there was no strong difference in climate suitability for malaria in the pre- and post-intervention period. In part, this may be due to data quality and analysis issues.

  6. The opportunities and challenges of multi-site evaluations: lessons from the jail diversion and trauma recovery national cross-site evaluation.

    PubMed

    Stainbrook, Kristin; Penney, Darby; Elwyn, Laura

    2015-06-01

    Multi-site evaluations, particularly of federally funded service programs, pose a special set of challenges for program evaluation. Not only are there contextual differences related to project location, there are often relatively few programmatic requirements, which results in variations in program models, target populations and services. The Jail Diversion and Trauma Recovery-Priority to Veterans (JDTR) National Cross-Site Evaluation was tasked with conducting a multi-site evaluation of thirteen grantee programs that varied along multiple domains. This article describes the use of a mixed methods evaluation design to understand the jail diversion programs and client outcomes for veterans with trauma, mental health and/or substance use problems. We discuss the challenges encountered in evaluating diverse programs, the benefits of the evaluation in the face of these challenges, and offer lessons learned for other evaluators undertaking this type of evaluation. Copyright © 2015 Elsevier Ltd. All rights reserved.

  7. Landscape genetic structure of coastal tailed frogs (Ascaphus truei) in protected vs. managed forests.

    PubMed

    Spear, Stephen F; Storfer, Andrew

    2008-11-01

    Habitat loss and fragmentation are the leading causes of species' declines and extinctions. A key component of studying population response to habitat alteration is to understand how fragmentation affects population connectivity in disturbed landscapes. We used landscape genetic analyses to determine how habitat fragmentation due to timber harvest affects genetic population connectivity of the coastal tailed frog (Ascaphus truei), a forest-dwelling, stream-breeding amphibian. We compared rates of gene flow across old-growth (Olympic National Park) and logged landscapes (Olympic National Forest) and used spatial autoregression to estimate the effect of landscape variables on genetic structure. We detected higher overall genetic connectivity across the managed forest, although this was likely a historical signature of continuous forest before timber harvest began. Gene flow also occurred terrestrially, as connectivity was high across unconnected river basins. Autoregressive models demonstrated that closed forest and low solar radiation were correlated with increased gene flow. In addition, there was evidence for a temporal lag in the correlation of decreased gene flow with harvest, suggesting that the full genetic impact may not appear for several generations. Furthermore, we detected genetic evidence of population bottlenecks across the Olympic National Forest, including at sites that were within old-growth forest but surrounded by harvested patches. Collectively, this research suggests that absence of forest (whether due to natural or anthropogenic changes) is a key restrictor of genetic connectivity and that intact forested patches in the surrounding environment are necessary for continued gene flow and population connectivity.

  8. Evaluation of non-additive genetic variation in feed-related traits of broiler chickens.

    PubMed

    Li, Y; Hawken, R; Sapp, R; George, A; Lehnert, S A; Henshall, J M; Reverter, A

    2017-03-01

    Genome-wide association mapping and genomic predictions of phenotype of individuals in livestock are predominately based on the detection and estimation of additive genetic effects. Non-additive genetic effects are largely ignored. Studies in animals, plants, and humans to assess the impact of non-additive genetic effects in genetic analyses have led to differing conclusions. In this paper, we examined the consequences of including non-additive genetic effects in genome-wide association mapping and genomic prediction of total genetic values in a commercial population of 5,658 broiler chickens genotyped for 45,176 single nucleotide polymorphism (SNP) markers. We employed mixed-model equations and restricted maximum likelihood to analyze 7 feed related traits (TRT1 - TRT7). Dominance variance accounted for a significant proportion of the total genetic variance in all 7 traits, ranging from 29.5% for TRT1 to 58.4% for TRT7. Using a 5-fold cross-validation schema, we found that in spite of the large dominance component, including the estimated dominance effects in the prediction of total genetic values did not improve the accuracy of the predictions for any of the phenotypes. We offer some possible explanations for this counter-intuitive result including the possible confounding of dominance deviations with common environmental effects such as hatch, different directional effects of SNP additive and dominance variations, and the gene-gene interactions' failure to contribute to the level of variance. © 2016 Poultry Science Association Inc.

  9. History and evaluation of national-scale geochemical data sets for the United States

    USGS Publications Warehouse

    Smith, David B.; Smith, Steven M.; Horton, John D.

    2013-01-01

    Six national-scale, or near national-scale, geochemical data sets for soils or stream sediments exist for the United States. The earliest of these, here termed the ‘Shacklette’ data set, was generated by a U.S. Geological Survey (USGS) project conducted from 1961 to 1975. This project used soil collected from a depth of about 20 cm as the sampling medium at 1323 sites throughout the conterminous U.S. The National Uranium Resource Evaluation Hydrogeochemical and Stream Sediment Reconnaissance (NURE-HSSR) Program of the U.S. Department of Energy was conducted from 1975 to 1984 and collected either stream sediments, lake sediments, or soils at more than 378,000 sites in both the conterminous U.S. and Alaska. The sampled area represented about 65% of the nation. The Natural Resources Conservation Service (NRCS), from 1978 to 1982, collected samples from multiple soil horizons at sites within the major crop-growing regions of the conterminous U.S. This data set contains analyses of more than 3000 samples. The National Geochemical Survey, a USGS project conducted from 1997 to 2009, used a subset of the NURE-HSSR archival samples as its starting point and then collected primarily stream sediments, with occasional soils, in the parts of the U.S. not covered by the NURE-HSSR Program. This data set contains chemical analyses for more than 70,000 samples. The USGS, in collaboration with the Mexican Geological Survey and the Geological Survey of Canada, initiated soil sampling for the North American Soil Geochemical Landscapes Project in 2007. Sampling of three horizons or depths at more than 4800 sites in the U.S. was completed in 2010, and chemical analyses are currently ongoing. The NRCS initiated a project in the 1990s to analyze the various soil horizons from selected pedons throughout the U.S. This data set currently contains data from more than 1400 sites. This paper (1) discusses each data set in terms of its purpose, sample collection protocols, and analytical

  10. Integration of population genetic structure and plant response to climate change: sustaining genetic resources through evaluation of projected threats

    Treesearch

    Bryce A. Richardson; Marcus V. Warwell; Mee-Sook Kim; Ned B. Klopfenstein; Geral I. McDonald

    2010-01-01

    To assess threats or predict responses to disturbances, or both, it is essential to recognize and characterize the population structures of forest species in relation to changing environments. Appropriate management of these genetic resources in the future will require (1) understanding the existing genetic diversity/variation and population structure of forest trees...

  11. Supply of genetic information--amount, format, and frequency.

    PubMed

    Misztal, I; Lawlor, T J

    1999-05-01

    The volume and complexity of genetic information is increasing because of new traits and better models. New traits may include reproduction, health, and carcass. More comprehensive models include the test day model in dairy cattle or a growth model in beef cattle. More complex models, which may include nonadditive effects such as inbreeding and dominance, also provide additional information. The amount of information per animal may increase drastically if DNA marker typing becomes routine and quantitative trait loci information is utilized. In many industries, evaluations are run more frequently. They result in faster genetic progress and improved management and marketing opportunities but also in extra costs and information overload. Adopting new technology and making some organizational changes can help realize all the added benefits of the improvements to the genetic evaluation systems at an acceptable cost. Continuous genetic evaluation, in which new records are accepted and breeding values are updated continuously, will relieve time pressures. An online mating system with access to both genetic and marketing information can result in mating recommendations customized for each user. Such a system could utilize inbreeding and dominance information that cannot efficiently be accommodated in the current sire summaries or off-line mating programs. The new systems will require a new organizational approach in which the task of scientists and technicians will not be simply running the evaluations but also providing the research, design, supervision, and maintenance required in the entire system of evaluation, decision making, and distribution.

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

    PubMed

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

    2015-01-01

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

  13. Application of RAD Sequencing for Evaluating the Genetic Diversity of Domesticated Panax notoginseng (Araliaceae)

    PubMed Central

    Pan, Yuezhi; Wang, Xueqin; Sun, Guiling; Li, Fusheng; Gong, Xun

    2016-01-01

    Panax notoginseng, a traditional Chinese medicinal plant, has been cultivated and domesticated for approximately 400 years, mainly in Yunnan and Guangxi, two provinces in southwest China. This species was named according to cultivated rather than wild individuals, and no wild populations had been found until now. The genetic resources available on farms are important for both breeding practices and resource conservation. In the present study, the recently developed technology RADseq, which is based on next-generation sequencing, was used to analyze the genetic variation and differentiation of P. notoginseng. The nucleotide diversity and heterozygosity results indicated that P. notoginseng had low genetic diversity at both the species and population levels. Almost no genetic differentiation has been detected, and all populations were genetically similar due to strong gene flow and insufficient splitting time. Although the genetic diversity of P. notoginseng was low at both species and population levels, several traditional plantations had relatively high genetic diversity, as revealed by the He and π values and by the private allele numbers. These valuable genetic resources should be protected as soon as possible to facilitate future breeding projects. The possible geographical origin of Sanqi domestication was discussed based on the results of the genetic diversity analysis. PMID:27846268

  14. [National Database of Genotypes--ethical and legal issues].

    PubMed

    Franková, Vera; Tesínová, Jolana; Brdicka, Radim

    2011-01-01

    National Database of Genotypes--ethical and legal issues The aim of the project National Database of Genotypes is to outline structure and rules for the database operation collecting information about genotypes of individual persons. The database should be used entirely for health care. Its purpose is to enable physicians to gain quick and easy access to the information about persons requiring specialized care due to their genetic constitution. In the future, another introduction of new genetic tests into the clinical practice can be expected thus the database of genotypes facilitates substantial financial savings by exclusion of duplicates of the expensive genetic testing. Ethical questions connected with the creating and functioning of such database concern mainly privacy protection, confidentiality of personal sensitive data, protection of database from misuse, consent with participation and public interests. Due to necessity of correct interpretation by qualified professional (= clinical geneticist), particular categorization of genetic data within the database is discussed. The function of proposed database has to be governed in concordance with the Czech legislation together with solving ethical problems.

  15. Making Sense of Your Genes: A Guide to Genetic Counseling

    MedlinePlus

    ... to think about genetic counseling and perhaps genetic testing. A cancer genetic counselor will evaluate your family health history and talk about risks for inherited cancer, as well as screening and ...

  16. Genetic algorithms using SISAL parallel programming language

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Tejada, S.

    1994-05-06

    Genetic algorithms are a mathematical optimization technique developed by John Holland at the University of Michigan [1]. The SISAL programming language possesses many of the characteristics desired to implement genetic algorithms. SISAL is a deterministic, functional programming language which is inherently parallel. Because SISAL is functional and based on mathematical concepts, genetic algorithms can be efficiently translated into the language. Several of the steps involved in genetic algorithms, such as mutation, crossover, and fitness evaluation, can be parallelized using SISAL. In this paper I will l discuss the implementation and performance of parallel genetic algorithms in SISAL.

  17. 75 FR 5601 - National Institute on Aging; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-02-03

    ... Committee: National Institute on Aging Special Emphasis Panel, Alzheimer's Disease Genetics. Date: March 4... of Committee: National Institute on Aging Special Emphasis Panel, Drug Development for Alzheimer's...

  18. Genetic improvement of beef cattle in the United States: cattle, people and their interaction.

    PubMed

    Willham, R L

    1982-03-01

    The purpose of this essay is to develop a historic perspective of the beef cattle population and the legion of people directing its genetic change so that future leadership can increase the rate of breeding technology assimilation. Use of cattle for beef to feed millions is relatively recent. The beef industry of the United States has a rich, romantic heritage that combined Spanish exploitation with British tradition. Spanish cattle became adapted as the Texas longhorn and the European cattle became indigenous. Breeds developed in Britain replaced both. The Zebu was introduced to produce cattle adapted to the Gulf Coast. Selection for early maturity in the British breeds promoted by livestock shows was ended by the dwarf gene. The Charolais breed demonstrated growth potential. Then in 1967, Continental European breeds were imported, given an array of biological types from which to select. Beef cattle breeding research expanded after the second world war through the three regional projects. Performance Registry International was the focal point for performance. The Beef Improvement Federation produced guidelines for recording beef performance including those for national sire evaluation. U.S. Meat Animal Research Center evaluated the several newly introduced breeds. To date, breeding researchers have developed breeding technology for the use by breeder. The major breed association are keeping and utilizing performance records. The genetic structure of the beef breeds is being altered by the use of AI such that genetic change can be made rapidly by the use of superior sires evaluated on their progeny in many herds.

  19. Biobanking genetic material for agricultural animal species

    USDA-ARS?s Scientific Manuscript database

    Biobanking animal germplasm and tissues is a major component of conserving genetic resources. Effectively constructing such gene banks requires an understanding and evaluation of genetic resources, the ability to conserve various tissues through cryopreservation, and a robust information technology ...

  20. National uranium resource evaluation: Newark Quadrangle, Pennsylvania and New Jersey

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Popper, G.H.P.; Martin, T.S.

    1982-04-01

    The Newark Quadrangle, Pennsylvania and New Jersey, was evaluated to a depth of 1500 m to identify geologic environments and delineate areas favorable for uranium deposits. Criteria used were those developed for the National Uranium Resource Evaluation program. Results of the investigation indicate that the Precambrian Reading Prong contains environments favorable for anatectic and allogenic uranium deposits. Two suites of rocks are favorable for anatectic-type concentrations: An alaskite-magnetite-gneiss association, and red granite and quartz monzonite. Allogenic uranium concentrations occur in rocks of the marble-skarn-serpentinite association. Environments favorable for peneconcordant sandstone-type uranium deposits occur in the upper one-third of the Catskillmore » Formation, the Mississippian-Pennsylvanian Mauch Chunk-Pottsville transition beds, and the upper half of the Triassic Stockton Formation. The Triassic Lockatong Formation contains environments favorable for carbonaceous shale-type uranium concentrations. The Ordovician Epler Formation and the Cretaceous-Tertiary strata of the Coastal Plain were not evaluated due to time restrictions and lack of outcroup. All other geologic environments are considered unfavorable for uranium deposits.« less