The landmark precision medicine effort returns value to research participants by sharing tailored, actionable health-related reports.The National Institutes of Health’s All of Us Research Program has begun returning personalized health-related DNA results to more than 155,000 participants, with reports detailing whether participants have an increased risk for specific health conditions and how their body might process certain medications. This marks a major milestone for the program, delivering on its promise to share information and return value to participants.
The University of Alabama at Birmingham leads the All of Us Southern Network, composed of Alabama, Mississippi and Louisiana. To date, the Southern Network has more than 30,000 core participants. Nearly 24,000 of those are in Alabama. UAB has enrolled 14,598 core participants.
“This is a significant step forward and is something that we — and our participants — have been eagerly awaiting,” said Bruce Korf, M.D., Ph.D., associate dean for Genomic Medicine for the UAB Marnix E. Heersink School of Medicine and contact principal investigator for the Southern Network. “Return of value to All of Us participants is a core principle of the program. Those found to be at increased risk of disease based on genomic findings will be able to make better decisions about their health in partnership with their care providers.”
All of Us aims to partner with at least 1 million people who reflect the diversity of the United States to accelerate medical breakthroughs. About 80 percent of All of Us participants represent communities that have been historically underrepresented in medical research, and nearly 50 percent of All of Us participants identify with a racial or ethnic minority group. The program started returning genetic ancestry and trait results to participants in December 2020. So far, the program has offered genetic ancestry and traits results to more than 175,000 participants and continues to return about 6,000 results each month.
“Knowledge is powerful. By returning health-related DNA information to participants, we are changing the research paradigm, turning it into a two-way street — fueling both scientific and personal discovery that could help individuals navigate their own health,” said Josh Denny, M.D., chief executive officer of the All of Us Research Program. “This type of partnership with our participants is crucial for building trust and fulfilling the commitment we made to drive research that can offer meaningful insights for all.”
In this first phase of returning health-related DNA results, participants who provided a blood sample and consented to receive genomic information are being individually invited to receive their results. They can choose which health-related results they want, if any. Those who choose to receive results will get an alert several weeks later when their results are ready. Additionally, genetic counselors are available to meet with participants and their family members or health care provider to discuss and interpret their results.
The program’s Hereditary Disease Risk report, informed by recommendations from the American College of Medical Genetics and Genomics, includes 59 genes and variants that are associated with serious, medically actionable health conditions. These genes are linked with an increased risk of specific cancers, heart conditions, blood disorders and more. The program anticipates that 2 percent 3 percent of participants will receive a result showing a pathogenic or likely pathogenic variant linked in one of the genes included in the report. Those whose results show they may have an increased risk of a serious health condition will be offered a clinical DNA test through the program’s genetic counseling resource, conducted outside of the program at no cost. This clinical DNA test will be conducted by Color Health, which provides genetic counseling services to All of Us participants.
Participants can also choose to receive a Medicine and Your DNA report that includes seven genes that are known to affect how the body processes certain medicines. Nearly all participants will learn more about how their bodies process medicines based on these results; however, participants are advised to consult a health care provider and undergo the appropriate clinical testing prior to considering changes to medications.
“Our participants care about their health as well as medical research. We strive to share information with them in a responsible, accessible and impactful way that honors their trust in us and provides them with tools to continue to learn more about their own health,” said Karriem Watson, DHSc, “This intentional focus brings us one step closer to advancing health equity for our participants and can serve as a catalyst for change to increase representation in medical research.”
“Returning information in research programs is the ethical choice, but must be done responsibly and equitably,” said Alicia Zhou, Ph.D., chief science officer of Color Health, the Genetic Counseling Resource for the All of Us Research Program. “All of Us is setting a new precedent for longitudinal research programs.”
All of Us works with a consortium of national and community partners across the United States to help reach people and collect DNA samples and data from surveys, physical measurements, electronic health records, or EHRs, and wearable devices. The program’s Data and Research Center, Participant Technology Systems Center, and Genetic Counseling Resource worked closely with the program and other partners to develop the process for returning health-related genetic results. The program’s Biobank and Genome Centers collaborated to generate the genomic data that informs the personalized results.
The program plans to increase the number of participants who are invited to receive genetic health-related results throughout 2023, including new participants who join the program.
The Southern All of Us Network includes the University of Alabama at Birmingham, Cooper Green Mercy Health Services, Louisiana State University Health Sciences Center, Tulane University, Tuskegee University, UAB School of Medicine’s Montgomery Internal Medicine and Selma Family Medicine programs, UAB School of Medicine’s Huntsville Regional Medical Campus, University of Mississippi Medical Center, University of South Alabama Health System, and University Medical Center in Tuscaloosa.
The Southern All of Us Network is supported under NIH funding award #1OT2OD026548-01. “All of Us” is a registered service mark of the U.S. Department of Health and Human Services.