Dataset Information

Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing.

ABSTRACT: Exome sequencing and whole genome sequencing (ES/WGS) present individuals with the opportunity to benefit from a broad scope of genetic results of clinical and personal utility. Yet, it is unclear which genetic results people want to receive (i.e., what type of genetic information they want to learn about themselves) or conversely not receive, and how they want to receive or manage results over time. Very little is known about whether and how attitudes toward receiving individual results from ES/WGS vary among racial/ethnic populations. We conducted 13 focus groups with a racially and ethnically diverse parent population (n = 76) to investigate attitudes toward return of individual results from WGS. We report on our findings for non-African American (non-AA) participants. Non-AA participants were primarily interested in genetic results on which they could act or "do something about." They defined "actionability" broadly to include individual medical treatment and disease prevention. The ability to plan for the future was both a motivation for and an expected benefit of receiving results. Their concerns focused on the meaning of results, specifically the potential inaccuracy and uncertainty of results. Non-AA participants expected healthcare providers to be involved in results management by helping them interpret results in the context of their own health and by providing counseling support. We compare and contrast these themes with those we previously reported from our analysis of African American (AA) perspectives to highlight the importance of varying preferences for results, characterize the central role of temporal orientation in framing expectations about the possibility of receiving ES/WGS results, and identify potential avenues by which genomic healthcare disparities may be inadvertently perpetuated.

SUBMITTER: Yu JH

PROVIDER: S-EPMC4357389 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing.

Yu Joon-Ho JH Crouch Julia J Jamal Seema M SM Bamshad Michael J MJ Tabor Holly K HK

American journal of medical genetics. Part A 20140520 9

Exome sequencing and whole genome sequencing (ES/WGS) present individuals with the opportunity to benefit from a broad scope of genetic results of clinical and personal utility. Yet, it is unclear which genetic results people want to receive (i.e., what type of genetic information they want to learn about themselves) or conversely not receive, and how they want to receive or manage results over time. Very little is known about whether and how attitudes toward receiving individual results from ES ...[more]

PMID: 24845082

Similar Datasets

Project description:BackgroundCurrently, many risk assessment tools are available for clinicians to assess a patient's periodontal disease risk. Numerous studies demonstrate the potential of these tools to promote preventive management and reduce morbidity due to periodontal disease. Despite these promising results, solo and small group dental practices, where most people receive care, have not adopted risk assessment tools widely, primarily due to lack of studies in these settings. The objective of this study was to explore the knowledge, attitudes, and beliefs of dental providers in these settings toward risk-based care through focus groups.MethodsWe conducted six focus group sessions with 52 dentists and dental hygienists practicing in solo and small group practices in Pittsburgh, PA and New York City (NYC), NY. An experienced moderator and a note-taker conducted the six sessions, each including 8-10 participants and lasting approximately 90 min. All sessions were audio-recorded and transcribed verbatim. Two researchers coded the focus group transcripts. Using a thematic analysis approach, they reviewed the coding results to identify important themes and selected representative excerpts that best described each theme.ResultsProviders strongly believed identifying risk factors could predict periodontal disease and use this information to change their patients' behavior. A successful risk assessment tool could assist them in educating and changing their patient's behaviors to adopt a healthy lifestyle, thus enabling them to play a major role in their patients' overall health. However, to achieve this goal, it is essential to educate all dental providers and not just dentists on performing risk assessment and translating the results into actionable recommendations for patients. According to study participants, the research community has focused more on translating research findings into a risk assessment tool, and less on how clinicians would use these tools during patient encounters and if it affects a patients' risk or outcome.ConclusionsDental practitioners were open to performing risk assessment as routine care and playing a bigger role in their patients' overall health. Recommendations to overcome major barriers included educating dental providers at all levels, conducting more research about their adoption and use in real-world settings and developing appropriate reimbursement models.

Project description:Left ventricular (LV) hypertrophy, highest in prevalence among African Americans, is an established risk factor heart failure. Several genome wide association studies have identified common variants associated with LV-related quantitative-traits in African Americans. To date, however, the effect of rare variants on these traits has not been extensively studied, especially in minority groups. We therefore investigated the association between rare variants and LV traits among 1,934 African Americans using exome chip data from the Hypertension Genetic Epidemiology Network (HyperGEN) study, with replication in 1,090 African American from the Genetic Epidemiology Network of Arteriopathy (GENOA) study. We used single-variant analyses and gene-based tests to investigate the association between 86,927 variants and six structural and functional LV traits including LV mass, LV internal dimension-diastole, relative wall thickness, left atrial dimension (LAD), fractional shortening (FS), and the ratio of LV early-to-late transmitral velocity (E/A ratio). Only rare variants (MAF <1% and <5%) were considered in gene-based analyses. In gene-based analyses, we found a statistically significant association between potassium voltage-gated channel subfamily H member 4 (KCNH4) and E/A ratio (P=8.7*10-8 using a burden test). Endonuclease G (ENDOG) was associated with LAD using the Madsen Browning weighted burden (MB) test (P=1.4*10-7). Neither gene result was replicated in GENOA, but the direction of effect of single variants in common was comparable. G protein-coupled receptor 55 (GPR55) was marginally associated with LAD in HyperGEN (P=3.2*10-5 using the MB test) and E/A ratio in GENOA, but with opposing directions of association for variants in common (P=0.03 for the MB test). No single variant was statistically significantly associated with any trait after correcting for multiple testing. The findings in this study highlight the potential cumulative contributions of rare variants to LV traits which, if validated, could improve our understanding of heart failure in African Americans.

Dataset Information

Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing.

Publications

Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure