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Journal of Community Genetics

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https://www.readbyqxmd.com/read/28623623/self-reported-race-and-ethnicity-of-us-biobank-participants-compared-to-the-us-census
#1
Elizabeth Gross Cohn, Nalo Hamilton, Elaine L Larson, Janet K Williams
Precision medicine envisions a future of effective diagnosis, treatment, and prevention grounded in precise understandings of the genetic and environmental determinants of disease. Given that the original genome-wide association studies represented a predominately European White population, and that diversity in genomic studies must account for genetic variation both within and across racial categories, new research studies are at a heightened risk for inadequate representation. Currently biological samples are being made available for sequencing in biobanks across the USA, but the diversity of those samples is unknown...
June 16, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28555435/brazilian-legal-and-bioethical-approach-about-donation-for-research-and-patents-of-human-body-parts
#2
Márcia Santana Fernandes, Lúcia Silla, José Roberto Goldim, Judith Martins-Costa
The aim of this paper is to explain why the Brazilian legal system does not accept commercialization or commodification of human body parts, including genes or cells. As a consequence, in Brazil, the donation of human body parts for research-including basic or translational-must be made altruistically. For the same reason, the Brazilian patent system cannot be applied to human parts, cells or genes. Here, we present a qualitative analysis of juridical, bioethical, and social reasoning related to the legal status of human body parts especially in biobanks, as well as a description of the Brazilian legal system for clarification...
May 29, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28555434/with-expanded-carrier-screening-founder-populations-run-the-risk-of-being-overlooked
#3
Inge B Mathijssen, Merel C van Maarle, Iris I M Kleiss, Egbert J W Redeker, Leo P Ten Kate, Lidewij Henneman, Hanne Meijers-Heijboer
Genetically isolated populations exist worldwide. Specific genetic disorders, including rare autosomal recessive disorders may have high prevalences in these populations. We searched for Dutch genetically isolated populations and their autosomal recessive founder mutations. We investigated whether these founder mutations are covered in the (preconception) expanded carrier screening tests of five carrier screening providers. Our results show that the great majority of founder mutations are not covered in these screening panels, and these panels may thus not be appropriate for use in founder populations...
May 29, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28547653/identifying-opportunities-for-collaboration-and-growth-of-genetic-counseling-services-in-the-asia-region
#4
Mercy Y Laurino, Darci L Sternen, Jennifer K Thompson, Kathleen A Leppig
The Genetic Counseling Pre-Conference Workshop (GCPCW) was held on September 16, 2015, in Hanoi, Vietnam. We report the GCPCW outcomes obtained from pre- and post-conference questionnaires, case-review breakout session, and an open discussion of needs for genetic counseling services in the Asia region. The GCPCW participants completed questionnaires with closed- and open-ended questions regarding the status and needs of providing genetic counseling services in Asia. Utilizing thematic content analysis, common themes shared during the case-review breakout session are summarized and survey results are tabulated...
May 25, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28510049/education-for-fathers-about-newborn-screening-and-leftover-dried-blood-spots
#5
Erin Rothwell, Bob Wong, Erin Johnson, Jeffrey R Botkin
The purpose of this research was to assess the impact of an educational intervention on paternal knowledge, attitudes, and support about newborn screening (NBS) and dried blood spots (DBS). Participants (n = 147) were randomized into one of two groups. The results from this study indicated that video education tools about NBS and DBS is associated with significantly increased knowledge, support, and satisfaction for both NBS and research use of DBS and an opt-out consent approach for DBS among fathers.
May 16, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28497434/thalassemia-and-hemoglobinopathies-in-an-ethnic-minority-group-in-central-vietnam-implications-to-health-burden-and-relationship-between-two-ethnic-minority-groups
#6
Nga Thi Nguyen, Kanokwan Sanchaisuriya, Pattara Sanchaisuriya, Hoa Van Nguyen, Hoa Thi Thuy Phan, Goonnapa Fucharoen, Supan Fucharoen
Thalassemia is a genetic condition that can result in long and expensive treatments, and severe thalassemia may lead to death if left untreated. Couples contributing two genes for thalassemia place their children at particular risk for severe thalassemia. Gene frequency of thalassemia varies in Vietnam, but presents remarkably high levels among some ethnic minority groups. Limited information about thalassemia frequency makes prevention and control of thalassemia difficult. This study aimed to determine gene frequency of certain types of thalassemia among 390 women of reproductive age of the Ta-Oi ethnic minority...
May 11, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28477297/engaging-rural-communities-in-genetic-research-challenges-and-opportunities
#7
Caress Dean, Amanda J Fogleman, Whitney E Zahnd, Alexander E Lipka, Ripan Singh Malhi, Kristin R Delfino, Wiley D Jenkins
Statistical analyses of health and disease in rural communities is frequently limited by low sample counts. Still, some studies indicate increased risk for some diseases even after adjustment for known risk factors. It has been hypothesized that the context of community formation in rural areas facilitates the propagation of genetic founder effects-potentially impacting disease susceptibility. However, outright examination of genetic diversity in such communities has not been performed. Our objective was to engage otherwise research-inexperienced rural communities of largely European descent in genomic research in the context of cancer susceptibility...
May 5, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28386676/attitudes-and-beliefs-among-high-and-low-risk-population-groups-towards-%C3%AE-thalassemia-prevention-a-cross-sectional-descriptive-study-from-india
#8
Swati Chawla, Rajnish Kumar Singh, Bhaskar V K S Lakkakula, Raghavendra Rao Vadlamudi
β-thalassemia is an autosomal recessive blood disorder caused by gene mutations that affect all aspects of β-globin production. In majority of Asian countries including India, the frequency of β-thalassemia is closely intertwined with social, cultural, and religious issues of the respective country. Several national level screening programs imparted education regarding β-thalassemia, but follow-up evaluation revealed that education was not effective. It has been hypothesized that the beliefs and attitudes, carrier screening, and education among "high risk communities" will have far-reaching implications towards β-thalassemia prevention in the country...
April 6, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28382417/de-identified-genomic-data-sharing-the-research-participant-perspective
#9
Deborah Goodman, Catherine O Johnson, Deborah Bowen, Megan Smith, Lari Wenzel, Karen Edwards
Combining datasets into larger and separate datasets is becoming increasingly common, and personal identifiers are often removed in order to maintain participant anonymity. Views of research participants on the use of de-identified data in large research datasets are important for future projects, such as the Precision Medicine Initiative and Cancer Moonshot Initiative. This quantitative study set in the USA examines participant preferences and evaluates differences by demographics and cancer history. Study participants were recruited from the Northwest Cancer Genetics Registry and included cancer patients, their relatives, and controls...
April 5, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28382416/engaging-a-state-facebook-comments-on-a-large-population-biobank
#10
Tevah Platt, Jodyn Platt, Daniel Thiel, Sharon L R Kardia
Scholarship on newborn screening, dried bloodspot retention, and large population biobanking call consistently for improved public engagement. Communication with participants likely occurs only in the context of collection, consent, or notification, if at all. We ran an 11-week advertising campaign to inform Michigan Facebook users unlikely to know that their or their children's dried bloodspots (DBSs) were stored in a state biobank. We investigated the pattern and content of comments posted during the campaign, focusing on users' questions, attitudes and concerns, and the role the moderator played in addressing them...
April 5, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28374280/does-personal-genome-testing-drive-service-utilization-in-an-adult-preventive-medicine-clinic
#11
Ny Hoang, Robin Hayeems, Jill Davies, Shuye Pu, Syed Wasim, Lea Velsher, James Aw, Sébastien Chénier, Dimitri J Stavropoulos, Riyana Babul-Hirji, Rosanna Weksberg, Cheryl Shuman
Personal genome testing (PGT) that assesses risk for common diseases may influence the use of preventive health services, but outcome data are limited. We aimed to assess health service utilization following PGT. We conducted a retrospective matched cohort study at an adult health clinic. Medical records of clients who pursued PGT at their comprehensive health assessment (CHA) over a 1-year period (N = 388) were reviewed and compared to age- and sex-matched clients who underwent CHA but not PGT (N = 388)...
April 3, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28382415/the-case-for-the-genetic-nurse-in-south-africa
#12
REVIEW
Helen L Malherbe, Arnold L Christianson, David Woods, Colleen Aldous
The care and prevention of congenital disorders (CDs) is an emerging but unprioritised health need in South Africa (SA). Inadequate empirical data and underreporting conceal the true burden of CDs while medical genetic services to confront the problem have regressed. Positive epidemiological transition in the country now demands these services are improved to significantly further reduce child mortality. Current sector capacity in SA is inadequate and required personnel targets will not be reached quickly enough to meet the growing health need even if relevant posts are designated...
April 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28299592/the-effect-of-a-celebrity-health-disclosure-on-demand-for-health-care-trends-in-brca-testing-and-subsequent-health-services-use
#13
Megan C Roberts, Stacie B Dusetzina
In May 2013, an internationally renowned celebrity-Angelina Jolie-disclosed her receipt of BRCA1/BRCA2 (BRCA) testing and subsequent double mastectomy in a highly publicized editorial. Publicity surrounding celebrity health services use increases awareness of important health issues and demand for health services. We aimed to describe BRCA testing trends before and after Jolie's disclosure, breast cancer-related services use following testing, and test reimbursement trends. MarketScan Commercial Claims data were used to compare trends in BRCA testing before and after Jolie's health disclosure using an interrupted time series model among women aged 18-64...
April 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28289980/implementing-genetic-education-in-primary-care-the-gen-equip-programme
#14
Milena Paneque, Martina C Cornel, Vaclava Curtisova, Elisa Houwink, Leigh Jackson, Alastair Kent, Peter Lunt, Milan Macek, Vigdis Stefansdottir, Daniela Turchetti, Heather Skirton
Genetics and genomics are increasingly relevant to primary healthcare but training is unavailable to many practitioners. Education that can be accessed by practitioners without cost or travel is essential. The Gen-Equip project was formed to provide effective education in genetics for primary healthcare in Europe and so improve patient care. Partners include patient representatives and specialists in genetics and primary care from six countries. Here, we report the progress and challenges involved in creating a European online educational program in genetics...
April 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28255814/frequency-of-single-nucleotide-platelet-receptor-gene%C3%A2-polymorphism-p2y12-i744t-c-in-coronary-artery-disease-patients-among-tamilian-population
#15
R Priyadharsini, G Umamaheswaran, T A R Raja, A S Arun Kumar, K Subraja, S A Dkhar, S Satheesh, C Adithan, D G Shewade
Several factors contribute to the development of coronary artery disease (CAD). Adenosine diphosphate (ADP) activated P2Y12 receptor also plays a key role in platelet activation and aggregation. It has been found that common variation in the P2Y12 gene was associated with increased platelet aggregation resulting in adverse cardiovascular outcomes. Thus, polymorphisms in the ADP receptor P2Y12 may contribute to the development of CAD. This study aims to determine the frequency distribution of platelet receptor polymorphism P2Y12 (i744T>C) in Tamilian population and to predict its possible role in CAD...
April 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28251585/voluntary-premarital-screening-to-prevent-sickle-cell-disease-in-jamaica-does-it-work
#16
G R Serjeant, B E Serjeant, K P Mason, F Gibson, R Gardner, L Warren, M Jonker
To determine whether identifying haemoglobin genotype, and providing education and counselling to senior school students will influence their choice of partner and reduce the frequency of births with sickle cell disease. The Manchester Project provided free voluntary blood tests to determine haemoglobin genotype to the fifth and sixth forms (grades 11-13), median age of 16.7 years, of all 15 secondary schools in the parish of Manchester in south central Jamaica. A total of 16,636 students complied, and counselling was offered to carriers of abnormal genes over 6 years (2008-2013)...
April 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28083845/breast-cancer-genetic-counseling-among-dutch-patients-from-turkish-and-moroccan-descent-participation-determinants-and-perspectives-of-patients-and-healthcare-professionals
#17
J E Baars, A M van Dulmen, M E Velthuizen, E van Riel, M G E M Ausems
Lower participation rates in cancer genetic counseling are observed among different ethnic minorities. The goal of our study is to gain insight into determinants of Turkish and Moroccan patients' participation in breast cancer genetic counseling and DNA testing, from the point of view of healthcare professionals and patients. Questionnaire-based telephone interviews about awareness, perceptions, and reasons for (non-) participation in cancer genetic counseling were conducted with 78 Dutch breast cancer patients from Turkish and Moroccan descent...
April 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28074382/engaging-hmong-adults-in-genomic%C3%A2-and%C3%A2-pharmacogenomic-research-toward-reducing-health-disparities-in-genomic-knowledge-using-a-community-based-participatory-research-approach
#18
Kathleen A Culhane-Pera, Robert J Straka, MaiKia Moua, Youssef Roman, Pachia Vue, Kang Xiaaj, May Xia Lo, Mai Lor
Advancing precision medicine relies in part on examining populations that may exhibit unique genetic variants that impact clinical outcomes. Failure to include diverse populations in genomic-based research represents a health disparity. We implemented a community-based participatory research (CBPR) process with the Hmong community in Minnesota, who were refugees from Laos, in order to assess the feasibility of conducting genomic and pharmacogenomic-based research for genetic variants that are relevant to the Hmong community...
April 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28064391/survey-of-family-history-taking-and-genetic-testing-in-pediatric-practice
#19
Robert A Saul, Tracy Trotter, Kerry Sease, Beth Tarini
Family health history collection and genetic testing are core elements for the successful translation of genomics into primary care practice. Yet, little is known about how pediatric providers implement these elements in practice. We surveyed the membership of the American Academy of Pediatrics regarding family health history (FHH) collection and genetic testing in the primary care setting. Three hundred forty-nine (349) responses were analyzed with the initial response rate of 43.3%. Four principal findings were noted-(1) family health history is still recognized as a critical part of the medical evaluation; (2) perceived obstacles for FHH are time in obtaining the FHH and concerns about the family's knowledge of their FHH; (3) a 3-generation family history is out of the scope of routine care and alternate methods should be considered; (4) most primary care providers (PCPs) do not feel comfortable ordering, interpreting, and counseling regarding current genetic testing...
April 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28050887/assessment-of-in-silico-protein-sequence-analysis-in-the-clinical-classification-of-variants-in-cancer-risk-genes
#20
Iain D Kerr, Hannah C Cox, Kelsey Moyes, Brent Evans, Brianna C Burdett, Aric van Kan, Heather McElroy, Paris J Vail, Krystal L Brown, Dechie B Sumampong, Nicholas J Monteferrante, Kennedy L Hardman, Aaron Theisen, Erin Mundt, Richard J Wenstrup, Julie M Eggington
Missense variants represent a significant proportion of variants identified in clinical genetic testing. In the absence of strong clinical or functional evidence, the American College of Medical Genetics recommends that these findings be classified as variants of uncertain significance (VUS). VUSs may be reclassified to better inform patient care when new evidence is available. It is critical that the methods used for reclassification are robust in order to prevent inappropriate medical management strategies and unnecessary, life-altering surgeries...
April 2017: Journal of Community Genetics
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