The complexities of social identity and genetic ancestry have led to confusion and consternation related to the use and interpretation of race, ethnicity, and ancestry data in biomedical research. These discussions and overt debates have intensified with advances in genomics and in knowledge about how social factors interact with biology. As more information about genomic diversity becomes available, the limitations of assigning social, political, and geographic labels to individuals become clearer; these limitations have led to growing challenges for researchers to communicate information about human genomic variation. Imprecise use of race and ethnicity data as population descriptors in genomics research has the potential to miscommunicate the complex relationships among an individual’s social identity, ancestry, socioeconomic status (SES), and health, while also perpetuating misguided notions that discrete genetic groups exist. Self-identified race and ethnicity commonly correlate with geographical ancestry and, in turn, geographical ancestry is a contributing factor to human genomic variation. While self-identified race and ethnicity correlate with the frequency of particular genomic variants at a population level, they cannot be used exclusively to predict a patient’s genotype or drug response.
In 2016, the National Human Genome Research Institute (NHGRI) and the National Institute on Minority Health and Health Disparities (NIMHD) of the U.S. National Institutes of Health convened a workshop to discuss the use of self-identified race and ethnicity data in genomics, biomedical, and clinical research, and the implications of this use for minority health and health disparities. The NHGRI and NIMHD have supported work exploring how physicians and scientists collect and report race and ethnicity data as well as how such data should be used for biomedical research. It is time for the broader scientific community – including genomics researchers, clinical laboratories, social scientists, medical educators, and biomedical journals – to develop and adopt consensus practices for the use of race, ethnicity, social determinants of health, and ancestry data in study design, interpretation of results, publications, and medical care. (abbreviated author introduction) #P4HEsummit2022