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Researchers have discovered more than 275 million previously unreported genetic variants, identified from data shared by nearly 250,000 participants in the National Institutes of Health’s All of Us Research Program. Nearly 4 million of the newly identified variants are found in areas that may be linked to disease risk.
Half of the genomic data comes from participants of non-European genetic ancestry. The unexplored cache of variants provides researchers with new avenues to better understand genetic influences on health and disease, especially in communities that have been left out of research in the past. The findings are detailed in (link is external) Nature (link is external), along with three other articles in Nature journals.
Nearly 4 million of the newly identified variants are found in areas that may be linked to disease risk. The genomic data detailed in the study is available to registered researchers in Researcher Workbench(link is external), the program’s platform for data analysis.
“As a physician, I have seen the impact that the lack of diversity in genomics research has had in deepening health disparities and limiting patient care,” said Josh Denny, executive director of the All of Us Research Program and author of studying.
“The All of Us data set has already led researchers to findings that expand what we know about health, many of which may not have been possible without contributions of DNA and other health information from our participants. “Their participation is leading the way toward a future in which scientific discoveries are more inclusive and with broader benefits for all.”
To date, more than 90% of participants in large genomic studies have been of European genetic ancestry. Directors of the NIH Institute and Center noted in an accompanying commentary article in Nature Medicine that this has led to a limited understanding of disease biology and impeded the development of new treatments and prevention strategies for all populations.
They highlight that many researchers are now using the All of Us data set to advance precision medicine for all.
While more research is needed before these findings can be used to tailor genetic testing recommendations for specific populations, the researchers believe the difference in the number of these variants may be influenced by the limited diversity of previous studies and their focused approach. in the disease for participant enrollment, rather than a difference in the prevalence of the variants.