Improvement in genomic analysis has allowed health researchers to identify, quantify and reduce heart-disease risk, but not all patients are benefiting.

Because the majority of genomic data is sourced from patients with European ancestry, researchers say, the insights provided by genomic studies aren't always applicable for historically marginalized groups, including racial and ethnic minorities and Indigenous populations.

To address this shortcoming, doctors with the American Heart Association issued a statement -- published Monday in the journal Circulation: Genomic and Precision Medicine -- calling on scientists to lower barriers to participation and boost diversity in genomic research.

"Profound breakthroughs in genetic and genomic science are rapidly improving our ability to prevent, detect and treat cardiovascular disease," Gia Mudd-Martin, chair of the writing group for the statement, said in a press release.

"Conducting research in collaboration with diverse and underrepresented populations is critical to assuring equitable health benefits," said Mudd-Martin, associate professor of nursing at the University of Kentucky.

While genetic studies examine direct links between individual genes and disease, genomic studies analyze all of a person's genes, or genome.

Genomic researchers study interactions between dozens of related genes, as well as the influence of diet and environmental factors on gene expression.

Genome-wide association studies use genome data from hundreds, or even thousands, of people to identify links between genetic variation and disease.

Insights from genome-wide surveys have helped scientists identify genetic patterns associated with heart disease risk, but because many many marginalized populations aren't well represented by genomic datasets, these insights sometimes are not useful or reliable for minority and indigenous groups.

People of European ancestry make up just 16 percent of the world's population, but according to a statement from the AHA, the group makes accounts for 80 percent of participants in genome-wide association studies.

"This limits the ability to identify genomic markers for disease risk," said Mudd-Martin.

"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," Mudd-Martin said.

Decades of mistreatment have left many marginalized groups distrustful of scientific research, AHA said, pointing to the "Tuskegee Study of Untreated Syphilis in the African American Male" as one of the most infamous examples of this mistreatment.

For decades, researchers with the United States Public Health Service recruited African American study participants with the promise of free health care. Participants were not informed of their diagnosis and received placebos rather than care for the disease.

"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, including some that are not publicly acknowledged or disclosed," said Mudd-Martin.

In the newly published statement, researchers said strong efforts must be made to reduce inequality in health research and genomic-wide surveys.

"Although inclusion of marginalized racial and ethnic groups and Indigenous peoples in genetic and genomic research is crucial, scientific studies must be guided by ethical principles of respect, honesty, justice, reciprocity, and care for individuals and communities," researchers wrote.

"Special considerations are needed to support research that benefits the scientific community as well as Indigenous peoples and marginalized groups," they wrote.

According to the statement, researchers must seriously consider the implications of informed consent for individuals and communities, as well as place a greater emphasis on education and data-sharing.

Community communication is vital, researchers argue, and thus, study organizers must build trust and collaborate with community leaders and stakeholders.

"Conducting genetic and genomic research in partnership with Indigenous peoples and marginalized groups guided by ethical principles provides a pathway for scientific advances that will enhance prevention and treatment of cardiovascular disease for everyone," researchers wrote.

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