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More than 275 million previously unreported genetic variants have been identified by the National Institutes of Health’s All of Us Research Program, which has enrolled more than 750,000 people since it was launched in 2018. Notably, half of the genomic data in this study are from participants of non-European genetic ancestry and nearly four million of the newly identified variants are in areas that may be tied to disease risk. 

The data release includes 245,388 clinical-grade genome sequences. The findings are reported in Nature

Real applications of this data are already in the works. In a companion study published in Communications Biology, a research team led by Baylor College of Medicine reviewed the frequency of genes and variants recommended by the American College of Medical Genetics and Genomics across different genetic ancestry groups in the All of Us dataset. The authors found significant variability in the frequency of variants associated with disease risk between different genetic ancestry groups and compared with other large genomic datasets.

In another related study, investigators with the NIH’s eMERGE network tapped the All of Us dataset to calibrate and implement 10 polygenic risk scores for common diseases across diverse genetic ancestry groups. One of the challenges before these risk scores can be implemented in the clinic. is their reduced predictive performance in diverse populations. The diversity of the All of Us data makes such risk scores much more widely applicable.

The All of Us program aims to include at least one million people who reflect the diversity of the U.S. Participants contribute DNA as well as data from health records, wearable devices, surveys, and more. The genomic data from the study are available to registered researchers in the Researcher Workbench, the program’s platform for data analysis.

“As a physician, I’ve seen the impact the lack of diversity in genomic research has had in deepening health disparities and limiting care for patients,” said Josh Denny, MD, MS, chief executive officer of the All of Us Research Program and an author of the Nature study. “The All of Us dataset has already led researchers to findings that expand what we know about health—many that may not have been possible without our participants’ contributions of DNA and other health information. Their participation is setting a course for a future where scientific discovery is more inclusive, with broader benefits for all.”

NIH Institute and Center directors noted, in an accompanying commentary article in Nature Medicine, that the lack of diversity in genomic databases has led to a narrow understanding of the biology of diseases, and impeded the development of new treatments and prevention strategies for all populations. They also said that many researchers are now using the All of Us dataset.

All of Us values intentional community engagement to ensure that populations historically underrepresented in biomedical research can also benefit from future scientific discoveries,” said Karriem Watson, DHSc, MS, MPH, chief engagement officer of the All of Us Research Program. “This starts with building awareness and improving access to medical research so that everyone has the opportunity to participate.”

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