Prioritizing diversity in human genomics research.

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Abstract

Recent studies have highlighted the imperatives of including diverse and under-represented individuals in human genomics research and the striking gaps in attaining that inclusion. With its multidecade experience in supporting research and policy efforts in human genomics, the National Human Genome Research Institute is committed to establishing foundational approaches to study the role of genomic variation in health and disease that include diverse populations. Large-scale efforts to understand biology and health have yielded key scientific findings, lessons and recommendations on how to increase diversity in genomic research studies and the genomic research workforce. Increased attention to diversity will increase the accuracy, utility and acceptability of using genomic information for clinical care.

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A systematic review of barriers and facilitators to minority research participation among African Americans, Latinos, Asian Americans, and Pacific Islanders.

Sheba George, Nelida Duran, Keith Norris (2014)

To assess the experienced or perceived barriers and facilitators to health research participation for major US racial/ethnic minority populations, we conducted a systematic review of qualitative and quantitative studies from a search on PubMed and Web of Science from January 2000 to December 2011. With 44 articles included in the review, we found distinct and shared barriers and facilitators. Despite different expressions of mistrust, all groups represented in these studies were willing to participate for altruistic reasons embedded in cultural and community priorities. Greater comparative understanding of barriers and facilitators to racial/ethnic minorities' research participation can improve population-specific recruitment and retention strategies and could better inform future large-scale prospective quantitative and in-depth ethnographic studies.

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Race, socioeconomic status, and health: complexities, ongoing challenges, and research opportunities.

David Williams, Selina Mohammed, Jacinta Leavell … (2010)

This paper provides an overview of racial variations in health and shows that differences in socioeconomic status (SES) across racial groups are a major contributor to racial disparities in health. However, race reflects multiple dimensions of social inequality and individual and household indicators of SES capture relevant but limited aspects of this phenomenon. Research is needed that will comprehensively characterize the critical pathogenic features of social environments and identify how they combine with each other to affect health over the life course. Migration history and status are also important predictors of health and research is needed that will enhance understanding of the complex ways in which race, SES, and immigrant status combine to affect health. Fully capturing the role of race in health also requires rigorous examination of the conditions under which medical care and genetic factors can contribute to racial and SES differences in health. The paper identifies research priorities in all of these areas.

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The ExAC browser: displaying reference data information from over 60 000 exomes

Konrad J. Karczewski, Ben Weisburd, Brett Thomas … (2016)

Worldwide, hundreds of thousands of humans have had their genomes or exomes sequenced, and access to the resulting data sets can provide valuable information for variant interpretation and understanding gene function. Here, we present a lightweight, flexible browser framework to display large population datasets of genetic variation. We demonstrate its use for exome sequence data from 60 706 individuals in the Exome Aggregation Consortium (ExAC). The ExAC browser provides gene- and transcript-centric displays of variation, a critical view for clinical applications. Additionally, we provide a variant display, which includes population frequency and functional annotation data as well as short read support for the called variant. This browser is open-source, freely available at http://exac.broadinstitute.org, and has already been used extensively by clinical laboratories worldwide.