Inclusion of Racial and Ethnic Minorities in Genetic Research: Advance the Spirit by Changing the Rules?

Abstract

Genetic research aimed at understanding human health and disease is grounded in the study of genetic variation. The inclusion of research subjects with diverse ancestral backgrounds is essential for genetic and genomic research that fully explores human diversity. Large‐scale cohort studies and biobanks in Europe and the United States often do not include the breadth of ethnic and racial diversity observed in their countries' citizens. This article explores the findings of a qualitative study of U.S. scientists' understanding and views of the NIH Policy and Guidelines on the Inclusion of Minorities as Subjects in Clinical Research. The findings suggest that the policy restricts how scientists use racial and ethnic categories to define and report their study populations and does little to motivate their efforts to increase the inclusion of non‐European ancestral populations in genetic and genomic research.

A Systematic Review of DNA Methylation and Preterm Birth in African American Women

“…According to the American Association of Colleges of Nursing (2015), only 13% of nursing faculty nationwide identify as African American, Latino or another underrepresented minority group, while these groups made up 37% of the U.S. population in 2012 and are expected to grow to over 50% by 2043 (United States Census Bureau, 2014). The exclusion of minority communities from genomic studies may be due, in part, to researchers’ discomfort in dealing with issues of race and other barriers to recruiting minority populations (Knerr, Wayman, & Bonham, 2011). These barriers could result in genomic studies with insufficient samples among minority groups and, ultimately, the discarding of those groups from analyses.…”

Taking a Stand: The Genetics Community's Responsibility for Intelligence Research

“…17 Researchers often default to social labels of race and ethnicity to describe research participants, but geneticists acknowledge that classification as observed and self-reported race are imprecise proxies for clustering individuals. 18 Findings from one recent large-scale genetic ancestry study illustrate that more than six million Americans who self-identify as European likely carry African ancestry. 19 Mixed ancestry is ubiquitous around the world, and most individuals have multiple genetic ancestry markers that are not captured well by racial and ethnic categories.…”

Race, Rare Genetic Variants, and the Science of Human Difference in the Post‐Genomic Age

“…; Geller, Adams, and Carnes ; Geller et al. ; Knerr, Wayman, and Bonham ) and by extension, has not encouraged researchers to shift toward a more critical understanding of how race shapes disease susceptibility. The investigator's paradox, it seems, reflects the larger issue of how to think about and utilize race and human variation as meaningful categories in biomedical research.…”

“…This federal mandate, while attempting to uphold ethical tenets, can hinder the ability to think about or value human difference in innovative and meaningful ways. Furthermore, according to several meta-analyses, the mandate has not mitigated the lack of minority representation in research (Chen et al 2014;Geller, Adams, and Carnes 2006;Geller et al 2011;Knerr, Wayman, and Bonham 2011) and by extension, has not encouraged researchers to shift toward a more critical understanding of how race shapes disease susceptibility. The investigator's paradox, it seems, reflects the larger issue of how to think about and utilize race and human variation as meaningful categories in biomedical research.…”