NIH study proves need for greater diversity in genomics research

After studying genomic variants in the DNA of individuals from a variety of ethnic and ancestral backgrounds, scientists have confirmed the absolute necessity of recruiting a diverse participant pool for genomics research, according to a study published June 19 in Nature.

In the study, which was funded by the National Institutes of Health, researchers examined the DNA of nearly 50,000 people from African-American, Hispanic/Latino, Asian, Native Hawaiian, Native American populations, as well as some who identified as undefined "others." The study sought to understand how genomic variants are linked to conditions such as high blood pressure, diabetes and kidney disease in non-European groups.

Researchers found countless links between genomic variants and health conditions that are much more likely in non-European groups. For example, a newly identified genomic variant linked to cigarette usage was found almost exclusively in Native Hawaiian participants. Additionally, a variant in the hemoglobin gene long associated with increased blood glucose in African-Americans was found to be associated with Hispanic populations as well.

Because people of European descent have been estimated to make up more than 80 percent of existing human genomics research, the new findings imply that much of that previous research cannot and should not be generalized across populations.

"In light of the differential genetic architecture that is known to exist between populations, bias in representation can exacerbate existing disease and healthcare disparities," the study's authors wrote. "Critical variants may be missed if they have a low frequency or are completely absent in European populations, especially as the field shifts its attention towards rare variants, which are more likely to be population-specific."

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