Addressing Health Disparities by Improving Genomic Research

According to the American Heart Association, genomic studies have made significant advancements in chronic heart disease prevention. However, these improvements have not been seen equality across all racial and ethnic groups. The American Heart Association released a scientific statement encouraging diverse participation in genomic research to eliminate radical health disparities.  

"Profound breakthroughs in genetic and genomic science are rapidly improving our ability to prevent, detect and treat cardiovascular disease," Gia Mudd-Martin, PhD, MPH, RN, FAHA, associate professor of nursing at the University of Kentucky in Lexington and chair of the writing group for the scientific statement said in a press release.

"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 impact on health and disease Leading to the discovery of important single-gene disorders, including hypertrophic cardiomyopathy. By contrast, genomic research examines all genes a person has (the genome) and how those genes interact with each other, lifestyle behaviors, and environmental factors.

Genome-wide association studies use the genomes of multiple people to find patterns of genomic variation associated with health or disease. According to the statement, around 80 percent of participants in genome-wide association studies are of European ancestry. However, European ancestry represents only 16 percent 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 advocates creating new, high-quality, human reference genomes representing a more diverse group of people. To accomplish this, researchers need to increase the participation of those from diverse ethnicities and ancestry in medical research.

According to Mudd-Martin, however, "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 statement offers several considerations for researchers to build trust and include more diverse participants in genetic and genomic studies. The first is to create plans to reduce inequalities and emphasize respect, honestly, justice, and fairness.

Researchers should also recognize that race and ethnicity are social and political constructs. They may or may not correlate with geographic ancestry or human genome variation in populations. Additionally, self-identified race and ethnicity can be useful in some contexts for the social determinants of health, but they cannot be used in predictive analytic methods that influence an individual’s health.

"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.

Incorporating diverse populations into genomic studies is mutually beneficial to both participants and researchers. Researchers can develop better precision medicine while those from diverse populations will receive better care, eliminating racial care disparities.