Winter 2017

Hole in the Data

Minorities are underrepresented in genetics research, and that perpetuates health disparities, study finds.

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Boston residents listen to a presentation by HNRCA scientists.

With all the success scientists have had using genetics to fight against disease, one element is missing: minorities. People with non-European ancestries are underrepresented in genetic databases, hindering the potential of personalized medicine.

For example, while hereditary breast cancer is linked to mutations in the BRCA1 or BRCA2 genes, the “normal” genetic sequence for these genes was determined based on women of European and Ashkenazi Jewish descent, so it’s not always possible to tell normal from abnormal sequences in women from minority groups. Similarly, researchers know that African-Americans are disproportionately affected by variants in the APOL1 gene, which can increase a person’s risk of kidney disease by up to seven times. However, there is not yet enough data to come up with effective treatments.

In a paper for Health Affairs, Tufts researchers and others called for efforts to increase the enrollment of nonwhites in studies, develop research relationships with target communities and educate health-care providers about genetic research.

“If we don’t expand our efforts, the quality and effectiveness of genetic research and services will be limited in ways that can perpetuate health disparities,” said José M. Ordovás, director of the Nutrition and Genomics Laboratory at the Jean Mayer USDA Human Nutrition Research Center on Aging at Tufts and a coauthor of the paper.

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