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American Heart Association Provides Guidance for Genomic Research With Underrepresented Groups

NEW YORK — Researchers in genetics and genomics should advance the representation of Indigenous peoples and marginalized racial and ethnic groups in research while working to rebuild trust, according to a new policy statement from the American Heart Association.

Individuals of European ancestry make up about 80 percent of participants in genome-wide association studies even though they only make up about 16 percent of the global population. Because of this overrepresentation of European ancestry groups, results from genetic and genomic studies may not benefit individuals from other groups and exacerbate existing health inequities.

However, historical wrongs, such as the Tuskegee Study of Untreated Syphilis or the unapproved use of tissue from Henrietta Lacks, and even recent events, such as those involving the Havasupai and Arizona State University researchers and the San people of South Africa and other researchers, may contribute to mistrust among Indigenous peoples and marginalized racial and ethnic groups toward medical researchers and make it challenging to recruit diverse research cohorts.

In a new policy statement appearing in Circulation: Genomic and Precision Medicine, the AHA calls on researchers to work toward dismantling these barriers by working with leaders from Indigenous peoples and marginalized racial and ethnic groups and adhering to the ethical principles of respect, honesty, justice, reciprocity, and care for individuals and communities.

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

She added that because certain groups are underrepresented in genetic and genomic research, including cardiovascular genetic and genomic research, new genomic tools to gauge risk of cardiovascular disease are less accurate when applied to an ethnically and racially diverse population. This, the working group said, highlights the need for new, high-quality, human reference genomes that represent diverse groups of people.

But because of historical harms, the AHA working group said, researchers need to take special considerations into account to ensure genetic and genomic research benefits Indigenous peoples and marginalized racial and ethnic groups and should work toward building trust, enhancing accountability, and improving equity.

In particular, the working group recommended collaborating with communities, whether that is developing research questions together or including community members as co-investigators. It said that, at a minimum, recruitment, data collection, and data sharing protocols should be developed in consultation with communities and community representatives.

Informed consent, it added, is a key consideration as it has become increasingly complex, and the working group noted that different consent models, including broad consent or dynamic consent, may be favored by different communities.

Additionally, the working group noted that research findings should be provided to the community, such as through newsletters or presentations. This, it said, could help place results in a cultural context before their wider presentation to the scientific community.

While data sharing is important among many scientists, the AHA working group noted that some Indigenous peoples and marginalized racial and ethnic groups may wish to have greater control over how their data is used. It added that one suggestion has been a system like that used by the H3Africa project in which only scientists verified as legitimate data users may access the information.

"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," Mudd-Martin added. "Each community is distinct, so plans to gather, use, and share data will be distinct and must be developed in collaboration with each community."