Thomas May, PhD / Bioethics
Increasing diversity among genomic research participants and databases
Conducting genomic research in diverse populations facilitates the understanding of health disparities, new discoveries in biology, more accurate matching of diverse patients with safe and effective treatments, improved interpretation of genetic tests, and better tracing of human history. Despite these clear benefits, individuals from diverse ethnic backgrounds have been widely underrepresented, or even absent, in genomics research. Failure to include sufficient diversity among research participants denies some populations full participation in the benefits of research findings, like pharmacogenomics, and inhibits richer understanding of gene-disease relationships among all populations. Despite efforts to increase diversity in genomic research, only marginal progress has been made toward meeting the goal. The proportion of participants in genome-wide association studies (GWAS) of non- European ancestry increased from four to nineteen percent between 2009 and 2016, but almost all of this gain in diversity was attributed to participants of Asian ancestry. In the United States, lack of representation of African Americans among genomic research par- ticipants is of particular concern. Persons of African descent make up 12 to 14 percent of the U.S. population, yet they continue to make up fewer than four percent of GWAS participants.
HudsonAlpha Faculty Investigator Thomas May, PhD, is a bioethicist who is dedicated to increas- ing diversity among genomic research participants by identifying and addressing the reasons minori- ties lack representation and participation in genom- ic research. In an opinion piece published in Trends in Genetics in 2020, May discusses the numerous reasons why minority groups may choose not to participate in genomics research 1 . May points to two main factors that deter minori- ties from participating in genomics research: lack of trust in research purposes, and the inadequacy of privacy protection. Many minorities are skeptical to give consent to al- low their DNA to be released to large research databas- es because they fear the data could be used in studies that go against their beliefs or morals. The distrust in research purposes is justified based upon historical events like the Tuskegee Syphilis Study in which African Americans were denied treatment for syphilis in order to advance a research study, and the Havasupai Tribe lawsuit in which DNA samples from tribe members were used for genetics research outside of what they had initially consented. The story of HeLa cell research and the inability of the family of Henrietta Lacks (from whom these cells were obtained) to benefit due to lack of insurance coverage also compounds the distrust in biological and genomic research. May states that given the history of unethical medical research on minority communities, researchers should consider more lenient opt-out procedures for genomic databases for studies where minority participants are targeted. Researchers should also work to increase a sense of control and en- gender trust with the minority populations. Privacy concerns surrounding genomic research are also of important significance to minority groups. The re- cent rise in the use of genetic databanks as a forensic tool for law enforcement raises questions about the potential for this tool to oppress minority groups. This is enough to provide disincentives for some minority populations. There is also a concern that data gleaned from genomic
2009
2016
373 studies 1.7 million samples
2,511 studies 35 million samples
81% European ancestry
96% European ancestry
Asian
Other, Non-Asian
4%
19%
Non-European ancestry
Reference: Popejoy, A.B. and Fullerton, S.M. Genomics is failing on diversity. Nature . 538:161-164 (2016)
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