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New statement provides path to include ethnicity, ancestry, race in genomic research

American Heart Association Scientific Statement

( DALLAS, July 26, 2021 -- Genomic studies have produced advances in how to calculate and reduce heart-disease risk, however, the benefits don't necessarily apply to people from historically marginalized racial and ethnic groups and Indigenous populations. Efforts must be made to eliminate barriers to increase their participation in genomic research, according to a new scientific statement from the American Heart Association, published today in the Association's journal Circulation: Genomic and Precision Medicine.

"Profound breakthroughs in genetic and genomic science are rapidly improving our ability to prevent, detect and treat cardiovascular disease," said Gia Mudd-Martin, Ph.D., M.P.H., R.N., FAHA, associate professor of nursing at the University of Kentucky in Lexington and chair of the writing group for the scientific statement. "Conducting research in collaboration with diverse and underrepresented populations is critical to assuring equitable health benefits."

Genetic research focuses on the scientific study of individual genes and their effects on health and disease, resulting in the identification of important single-gene disorders such as hypertrophic cardiomyopathy. Genomic research, in contrast, is the study of all genes a person has (the genome) as well as how those genes interact with each other and with lifestyle behaviors (such as diet) or factors in the environment (such as air pollution). Genome-wide association studies use the genomes of multiple people to detect patterns of genomic variation associated with health or disease, such as the risk for certain heart diseases.

According to the statement, about 80% of participants in genome-wide association studies are of European ancestry, yet this group represents only 16% of the global population.

"This limits the ability to identify genomic markers for disease risk. For example, genomic scores to determine risk for certain heart diseases are less accurate when used with ethnically and racially diverse populations or Indigenous peoples than when used with persons of European ancestry," said Mudd-Martin.

The statement highlights a need to create new, high-quality, human reference genomes representing more diverse groups of people. This means more people from diverse ethnicities and ancestry are needed to participate in medical research. "However," said Mudd-Martin, "a key barrier to participation is a deep and understandable mistrust of scientific research caused by numerous historical transgressions against marginalized racial and ethnic groups and Indigenous populations."

The most well-known cases of these are the Tuskegee Study of Untreated Syphilis in Black men, during which Black men were recruited to participate in the study with the promise of free health care yet they received placebos rather than care for syphilis; and the unapproved use of tissue from Henrietta Lacks. Lacks was a Black woman who was being treated for cervical cancer and died in 1951. Without her permission, her tissue samples were used to establish the HeLa cell line, which has been a critical source of human cells for cancer, immunology, infectious disease, genomic and cardiovascular research; the HeLa cell line is still used widely in scientific research today.

"Unfortunately, comparable atrocities similar to what happened in the Tuskegee Study of Untreated Syphilis in Black men have occurred in other marginalized racial and ethnic groups," said Mudd-Martin, "including some that are not publicly acknowledged or disclosed."

The statement offers several considerations for researchers to rebuild trust and include more diverse participants in genetic and genomic studies, including:

Creating plans to reduce inequities that emphasize the principles of respect, honesty, justice and fairness; the assurance of mutual benefit and care for the individual and community - all elements of ethical human subject treatment guidance for research worldwide; Recognizing that race and ethnicity are social and political constructs that may or may not correlate with geographic ancestry or human genome variation in populations; Realizing that self-identified race and ethnicity, while useful in some contexts for understanding social determinants of health, cannot be used to predict genetic factors that influence an individual's health status; Collaborating with community stakeholders can help researchers take cultural values and interests into account in research design, ensure informed consent of participants and create a transparent system for data analysis and disseminating study findings; and Ethically using genomic data from Indigenous communities by enhancing the accountability of researchers and ensuring that benefits are equitably shared. "Engaging with communities, building trust and approaching research as a collaboration between researchers and community stakeholders are critical to support genetic and genomic research with marginalized racial and ethnic groups and Indigenous peoples. Each community is distinct, so plans to gather, use and share data will be distinct and must be developed in collaboration with each community," Mudd-Martin said.


This scientific statement was prepared by the volunteer writing group on behalf of the American Heart Association's Council on Genomic and Precision Medicine and the Council on Cardiovascular and Stroke Nursing.

Co-authors are Vicky A. Cameron, Ph.D., FAHA, vice chair; Allison L. Cirino, M.S., C.G.C., FAHA; Veronica Barcelona, Ph.D., M.S.N., M.P.H., R.N., P.H.N.A.-B.C.; Keolu Fox, Ph.D.; Maui Hudson, M.H.Sc.; Yan V. Sun, Ph.D., FAHA; Jacquelyn Y. Taylor, Ph.D., P.N.P.-B.C., R.N., FAHA. Author disclosures are in the manuscript.

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About the American Heart Association

The American Heart Association is a relentless force for a world of longer, healthier lives. We are dedicated to ensuring equitable health in all communities. Through collaboration with numerous organizations, and powered by millions of volunteers, we fund innovative research, advocate for the public's health and share lifesaving resources. The Dallas-based organization has been a leading source of health information for nearly a century. Connect with us on, Facebook, Twitter or by calling 1-800-AHA-USA1.


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[] New statement provides path to include ethnicity, ancestry, race in genomic research
American Heart Association Scientific Statement