Exome sequencing (ES) and whole genome sequencing (WGS) are transformative new tools for discovery of genetic risk factors for both rare and common diseases and offer the potential of personalized genetic risk profiling in a single, cost-effective test. Because of the large number of variant results simultaneously identified, the number of results with potential clinical utility-including those that are unanticipated, and the evolving utility of results over time-use of these technologies challenges existing models of returning results to research subjects and patients. This has generated widespread interest in developing and testing innovative strategies for returning results from ES/WGS studies. Almost all strategies currently being studied, however, focus on returning results to European Americans-despite evidence of differences among racial and ethnic groups for preferences for results, the interpretation of clinical utility, and the impact of receiving geetic results. This situation reflects the broader challenge of involving racial and ethnic minority communities in genetic research in order to ensure parity in the benefits of advances in genomic medicine. Accordingly, it is imperative that we understand the attitudes and preferences of racial and ethnic minorities toward genomic research and specifically return of ES/WGS results, and assess the outcome of receiving ES/WGS and its impact on minority participation. I am choosing to devote my career to further the ethical and scientific translation of genomics to benefit all people, especially underserved racial and ethnic minorities. Through formal training at leading research institutions, mentored research and publications with experts in their respective fields, I will capitalize on my prior training in public health genetics and complete my transition to an independent investigator by (1) acquiring skills in quantitative survey development, conduct, and analysis;(2) acquire skills to work with culturally diverse racial and ethnic minority communities to conduct collaborative research;and (3) broaden my understanding of theoretical and empirical work on group harms and benefits from bioethics, anthropology and the social sciences. To compliment my formal training, I will utilize these skills to conduct two mentored research projects including (1) a survey of healthcare providers and community leaders who serve racial and ethnic minority communities and (2) focus groups with racially and ethnically diverse adults, about participation in genetic research and return of ES/WGS results. In the independent phase of this proposal, I will (1) characterize and describe attitudes of underserved populations toward return of ES/WGS results by using a survey and (2) characterize individual preferences for receiving ES/WGS incidental finding through interviews with participants who are using a newly developed web-based tool called My46. Also using this tool, I will (3) study the outcomes of returning ES/WGS incidental findings to a cohort of African American individuals.
Exome sequencing (ES) and whole genome sequencing (WGS) are transformative new tools that are revolutionizing gene discovery for Mendelian disorders and complex traits. The prospect of participating in ES/WGS research and returning results from ES/WGS presents numerous challenges including the need to ensure equal benefit to underserved racial and ethnic minority populations, and the potential for group benefits and harms. I propose to learn about the perspectives of racial and ethnic minority populations on participation in ES/WGS research and receiving ES/WGS results.
|Yu, Joon-Ho; Engrav, Rebecca S (2014) Policy and the inevitability of sharing: GINA and social media. Am J Bioeth 14:57-9|