U.S. Department of Health & Human Services
The nationwide precision medicine effort identifies 7,000 new genetic variants to improve genetic testing for all
The National Institutes of Health’s All of Us Research Program has returned personalized health-related DNA results to more than 100,000 participants. In doing so, the program looked at a specific set of genes that are associated with certain serious health conditions, such as hereditary cancers and heart disease, and observed 32,500 DNA variants. More than 7,000 of these variants had never been observed among people who had previously had genetic testing.
This de-identified information has been added to the public database, ClinVar. Managed by the National Center for Biotechnology Information at NIH’s National Library of Medicine, ClinVar aggregates information about genomic variation and its relationship to human health. Health care providers use this database to help diagnose and manage health conditions, and researchers use it to identify new areas of study. The submission to ClinVar is one way All of Us is making a meaningful impact to the practice of precision medicine. More than 2,500 clinical laboratories, research programs, universities, and clinical practices submit genetic variant information to ClinVar. Following this submission of All of Us data to ClinVar, the program ranks in the top 20 contributors based on volume of submissions.
“By making medical research more inclusive, we are learning how to improve prevention strategies for more communities,” said Martin Mendoza, Ph.D., director of Health Equity of the All of Us Research Program. “Our participants’ data are helping move the country one step closer to advancing health equity by making genetic testing more accurate and reliable.”
The level of diversity of All of Us participants is unprecedented among large cohort programs in health research. Additionally, the program is unique in its commitment and approach to returning personalized health-related DNA results to participants who decide to receive them. If a participant chooses to receive personalized health-related DNA results, their genetic variants are analyzed by specially trained clinical molecular geneticists at one of the program’s Clinical Validation Laboratories. These scientists systematically review published case reports, functional genetic studies and population databases to determine if a participant’s variants could raise their risk of disease. All of Us worked with the Food and Drug Administration to ensure this process met high standards for precision and accuracy.
“The process for delivering actionable information to All of Us participants has been utilized to also help improve genomic medicine testing and research around the globe,” said Heidi Rehm, Ph.D., a principal investigator for All of Us’ genome center at the Broad Institute of MIT and Harvard, Boston. “This information sharing will make a difference both in the lives of participants, as well as patients worldwide.”
More than 230,000 participants have already been invited to receive health-related DNA results, and the program continues to invite 1,000 to 5,000 people each week to view their results. By providing this information to participants, All of Us looks to return value to participants in their role as partners of the research program. Those who are still waiting for their results will receive updates on the program’s next steps in the coming months.
All of Us works with a large network of partners around the country to enroll participants, gather their data, and return DNA results. More than 790,000 people have joined All of Us to contribute to this research effort. Participants can share data from biosamples, surveys, physical measurements, electronic health records (EHRs), and wearable devices. These comprehensive data are made broadly accessible to registered researchers through the program’s Researcher Workbench to help spur biomedical research discoveries and ultimately advance health equity.
