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NIH Earmarks $38M for Consortium Studying Polygenic Risk Scores in Diverse Populations

This article has been updated to correct the attribution of a quote and the award funded by the NCI.

NEW YORK — The National Institutes of Health said on Tuesday that it will provide $38 million in grant funding over the next five years to fund a consortium that will develop improved methods for using polygenic risk scores to predict disease in diverse populations.

Of the total $38 million in funding, the National Human Genome Research Institute, or NHGRI, will provide approximately $33 million for six awards, while the National Cancer Institute (NCI) will provide the remaining $5 million for one award. The NHGRI funding will support consortium research sites at the University of Maryland, College Park; Massachusetts General Hospital; the University of North Carolina, Chapel Hill; the Broad Institute; and the University of California, Los Angeles. It will also fund the consortium's coordinating center, which will oversee data science and logistical operations, at the University of Washington, Seattle. The NCI funding will go to a research site at the University of Southern California, Los Angeles.

Consortium members will pool genomic information from new and existing datasets to develop and evaluate methods for calculating polygenic risk scores for specific diseases, particularly people of different ancestries, the NIH said. They will also be tasked with identifying best practices to ensure that the scores accurately predict disease across diverse populations, as well as increasing transparency and standardizing practices around how polygenic risk scores are developed and validated.

"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," Teri Manolio, director of the division of genomic medicine at the NHGRI, said in a statement. "This is an area where the consortium's work will be critical."

To assist in their efforts, consortium researchers will use the NHGRI's Genome Data Science Analysis, Visualization, and Informatics Lab-space, a cloud-based genomic data sharing and analysis platform.

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