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Journal of Community Genetics

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https://www.readbyqxmd.com/read/28733824/diagnosis-of-rare-diseases-under-focus-impacts-for-canadian-patients
#1
Daphne Esquivel-Sada, Minh Thu Nguyen
This paper presents an in-depth qualitative analysis of the impact of diagnosis on the lives of rare disease (RD) patients. While diagnosis may be described as a watershed step for RD patients, no extensive account of non-medical outcomes following a RD diagnosis exists within the literature. This study aims to fill this knowledge gap through an analysis of the impact of diagnosis on the lives of RD patients according to their personal experiences. Qualitative research was conducted in three provinces across Canada, with a total of 23 participants, both adult and parents of children with RD, diagnosed and not yet diagnosed...
July 21, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28726230/health-wealth-and-behavioural-change-an-exploration-of-role-responsibilities-in-the-wake-of-epigenetics
#2
Danya F Vears, Flavio D'Abramo
The field of epigenetics is leading to new conceptualizations of the role of environmental factors in health and genetic disease. Although more evidence is required, epigenetic mechanisms are being implicated in the link between low socioeconomic status and poor health status. Epigenetic phenomena work in a number of ways: they can be established early in development, transmitted from previous generations and/or responsive to environmental factors. Knowledge about these types of epigenetic traits might therefore allow us to move away from a genetic deterministic perspective, and provide individuals with the opportunity to change their health status...
July 18, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28699077/focusing-attention-on-ancestral-diversity-within-genomics-research-a-potential-means-for-promoting-equity-in-the-provision-of-genomics-based-healthcare-services-in-developing-countries
#3
Nirmala D Sirisena, Vajira H W Dissanayake
Although we are well into the second decade after the completion of the International Human Genome Project, genomic research has failed to fully represent the diverse ancestry of global populations. The resultant healthcare challenges faced by populations underrepresented in genomic research needs to be tackled by the global scientific community. In this paper, we address several major factors which have contributed to the existing health disparity and put forward a combination of scientific and political interventions needed to bring about a change that will ensure all global populations benefit equally from the advances made in genomic medicine and research...
July 11, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28689351/leveraging-community-based-participatory-research-capacity-to-recruit-pacific-islanders-into-a-genetics-study
#4
Pearl A McElfish, Marie-Rachelle Narcisse, Christopher R Long, Britni L Ayers, Nicola L Hawley, Nia Aitaoto, Sheldon Riklon, L Joseph Su, Shumona Z Ima, Ralph O Wilmoth, Thomas K Schulz, Susan Kadlubar
Pacific Islanders face many health disparities, including higher rates of cardiovascular disease, cancer, obesity, and diabetes compared to other racial and ethnic groups. Specifically, the Marshallese population suffers disproportionately from type 2 diabetes, with rates 400% higher than the general US population. As part of an ongoing community-based participatory research (CBPR) partnership, 148 participants were recruited for a study examining genetic variants to better understand diabetes. Participants provided a saliva specimen in an Oragene® DNA self-collection kit...
July 8, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28664264/behavioural-changes-sharing-behaviour-and-psychological-responses-after-receiving-direct-to-consumer-genetic-test-results-a-systematic-review-and-meta-analysis
#5
REVIEW
Kelly F J Stewart, Anke Wesselius, Maartje A C Schreurs, Annemie M W J Schols, Maurice P Zeegers
It has been hypothesised that direct-to-consumer genetic tests (DTC-GTs) could stimulate health behaviour change. However, genetic testing may also lead to anxiety and distress or unnecessarily burden the health care system. The aim is to review and meta-analyse the effects of DTC-GT on (1) behaviour change, (2) psychological response and (3) medical consumption. A systematic literature search was performed in three databases, using "direct-to-consumer genetic testing" as a key search term. Random effects meta-analyses were performed when at least two comparable outcomes were available...
June 29, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28660599/exploring-asian-indian-and-pakistani-views-about-cancer-and-participation-in-cancer-genetics-research-toward-the-development-of-a-community-genetics-intervention
#6
Amy E Leader, Salini Mohanty, Preethi Selvan, Ray Lum, Veda N Giri
Cancer is a leading cause of mortality among the three million Asian Indian/Pakistanis (AIPs) in the USA. AIPs have traditionally been underrepresented in cancer-related research, although reasons remain largely unexplored. We sought to understand AIP's awareness and perceptions of cancer to improve their participation in risk assessment and cancer genetics research. Four focus groups, stratified by gender and birthplace (US-born vs. foreign-born), were held at an AIP cultural center. Discussions focused on knowledge and awareness of cancer risk; how AIP culture influences cancer perceptions; access to health care services for cancer screening, diagnosis, or treatment; and willingness to or experiences with participating in cancer genetics research...
June 28, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28656483/great-expectations-patient-perspectives-and-anticipated-utility-of-non-diagnostic-genomic-sequencing-results
#7
Robyn Hylind, Maureen Smith, Laura Rasmussen-Torvik, Sharon Aufox
The management of secondary findings is a challenge to health-care providers relaying clinical genomic-sequencing results to patients. Understanding patients' expectations from non-diagnostic genomic sequencing could help guide this management. This study interviewed 14 individuals enrolled in the eMERGE (Electronic Medical Records and Genomics) study. Participants in eMERGE consent to undergo non-diagnostic genomic sequencing, receive results, and have results returned to their physicians. The interviews assessed expectations and intended use of results...
June 27, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28555434/with-expanded-carrier-screening-founder-populations-run-the-risk-of-being-overlooked
#8
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/28623623/self-reported-race-and-ethnicity-of-us-biobank-participants-compared-to-the-us-census
#9
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...
July 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
#10
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...
July 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
#11
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...
July 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28510049/education-for-fathers-about-newborn-screening-and-leftover-dried-blood-spots
#12
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.
July 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
#13
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...
July 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28477297/engaging-rural-communities-in-genetic-research-challenges-and-opportunities
#14
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...
July 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
#15
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...
July 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28382417/de-identified-genomic-data-sharing-the-research-participant-perspective
#16
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...
July 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28382416/engaging-a-state-facebook-comments-on-a-large-population-biobank
#17
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...
July 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28374280/does-personal-genome-testing-drive-service-utilization-in-an-adult-preventive-medicine-clinic
#18
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)...
July 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28324246/opinions-of-hearing-parents-about-the-causes-of-hearing-impairment-of-their-children-with-biallelic-gjb2-mutations
#19
Aisen V Solovyev, Lilya U Dzhemileva, Olga L Posukh, Nikolay A Barashkov, Marita S Bady-Khoo, Semen L Lobov, Natalya Yu Popova, Georgii P Romanov, Nikolay N Sazonov, Alexander A Bondar, Igor V Morozov, Mikhail I Tomsky, Sardana A Fedorova, Elza K Khusnutdinova
Hereditary hearing impairment (HI) caused by recessive GJB2 mutations is a frequent sensory disorder. The results of the molecular-based studies of HI are widely used in various genetic test systems. However, the ethical aspects are less described than the genetic aspects. The concerns expressed by individuals from groups with genetic risks must be included in the counseling of patients and their families. For evaluation of subjective opinions of hearing parents about the presumed causes of HI of their children, we analyze the cohort of parents having children with confirmed hereditary HI caused by biallelic recessive GJB2 mutations (in a homozygous or a compound heterozygous state)...
July 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28382415/the-case-for-the-genetic-nurse-in-south-africa
#20
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
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