NIH awards $38 million to improve utility of polygenic risk scores in diverse populations - EurekAlert
Jun 16, 2021 1 min, 25 secs

IMAGE: Research studies are using polygenic risk scores to determine a person's inherited risk for certain diseases.

The National Institutes of Health (NIH) will fund grants totaling $38 million over five years to develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse communities.

Polygenic risk scores, often referred to as PRS, are a genetic estimate of a person's risk for specific diseases.

Researchers and clinicians calculate polygenic risk scores by comparing the genomic data of people with and without a particular disease.

Research shows that early approaches to calculating polygenic risk scores, which were developed using data from mostly European ancestry populations, are not effective when used in diverse populations.

The new consortium will pool genomic information from existing and new datasets to develop and evaluate the methods used for calculating polygenic risk scores for specific diseases, with an emphasis on studying people from different ancestries.

Researchers have used available large-scale genomic datasets to develop the ability to calculate polygenic risk scores for numerous conditions, such as coronary heart disease and diabetes, and to identify people who are at high risk.

"One of our biggest concerns is that data used to calculate polygenic risk scores do not include sufficient numbers of individuals from diverse populations, falling short of effectively predicting disease risk in non-European populations," said Teri Manolio, M.D., Ph.D., director of the Division of Genomic Medicine at NHGRI.

"AnVIL will foster collaborations within the consortium and the biomedical research community by providing a shared analysis and computing environment to develop and evaluate polygenic risk score-related workflows and tools," said Ken Wiley, Ph.D., program director in the Division of Genomic Medicine!


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