To realize precision medicine, genetic studies need diversity

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Studying diverse populations can reduce health disparities, but most studies include only people of primarily European descent, a new study reports.

“The promise of precision medicine that improves health will not be achieved with studies based solely on people of primarily European ancestry,” says Tara Matise, a professor who chairs the genetics department at Rutgers University-New Brunswick. “We need more diversity in genetic studies and better scientific methods and awareness of how to handle that diversity.”

For the new study in Nature, researchers looked at variants, or mutations, in nearly 50,000 people of non-European descent, what they say is one of the largest genetic studies of Hispanics and Latinos, African-Americans, Asians, and other minorities.

The research is important to identify mutations that can cause debilitating diseases so scientists can develop effective treatments, the researchers say. Genetic mutations that contribute to chronic diseases like diabetes may not be the same in all ethnicities.

In the US, where minority populations have higher levels of chronic health conditions, the lack of diverse populations in genetic research will lead to unequal access to precision medicine for minorities, researchers say.

The study examined genetic mutations across the genome to test for contributions to traits in eight major categories: inflammation, lipids, lifestyle, glycemic (blood sugar-related), cardiovascular, blood pressure, anthropometric (body measurements), and kidney-related.

One example of the findings: A genetic mutation linked to blood sugar levels occurs in 1 percent of Hispanic/Latino people and in about 6 percent of the African American population, but is rare in Europeans.

That’s important information for health care providers, because patients with the mutation might have blood tests that could lead physicians to falsely conclude their glucose levels are under control, researchers say.

“Our study confirmed that the apparent effects of the same genetic variant often vary across populations,” says senior author Steve Buyske, an associate professor in the statistics department. “A genetic variant with a big effect in people of European descent may have a smaller effect in other populations, and vice versa.”

The study—part of the federally funded Population Architecture using Genomics and Epidemiology (PAGE) project—focused on the association between 26 health-related and behavioral traits where genetic variants play a role and 34.6 million genetic variations called SNPs (single nucleotide polymorphisms) that span the human genome.

Source: Rutgers University