Illustration of a read out from a Sanger sequencer to demonstrate the power of genomic screening for identifying inherited conditions at an early stage.
Credit: ktsimage / Getty Images

In a major milestone, the National Institutes of Health’s All of Us research program has begun returning health-related DNA results to its more than 155,000 participants. These results will tell participants if they have an increased risk for specific health conditions and how they might respond certain medications.

This step is one of several signs that genomics is making its way to the clinic. Just this week, the U.K. announced a huge push into research on genomics for clinical applications. Genomics England, a government company that carried out the U.K.’s 100,000 genomes project, will lead on projects involving newborn screening and cancer diagnosis.

NIH’s All of Us aims to accelerate medical breakthroughs by recruiting at least one million people who reflect the diversity of the United States for sequencing. About 80% the programs participants represent communities historically underrepresented in medical research, and nearly 50% of All of Us participants identify with a racial or ethnic minority group.

“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, MD, MS, chief executive officer of the All of Us Research Program.

The program started returning genetic ancestry and trait results to participants in December 2020. So far, it has offered such results to more than 175,000 participants and continues to return about 6,000 results each month.

Research from other groups, including the Massachusetts General Brigham Biobank, suggests that informing genomic study participants of disease risk variants can identify those at particular risk of conditions such as cancer and heart disease.

In this phase of the project, All of Us participants who provided a blood sample and consented to receive genomic information are being asked if they want to receive their health-related results. They can choose which results, if any, they want.

Those who opt in will get an alert several weeks later when their results are ready. 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. It’s expected that 2–3% of All of Us participants will receive a result showing a pathogenic or likely pathogenic variant linked in one of the genes included in the screening.

Those whose results suggest 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 for the program.

Participants can also choose to receive a Medicine and Your DNA report that includes seven genes that are known to affect pharmacogenetics. Participants are advised to consult a health care provider prior to considering changes to medications.

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 (EHRs), and wearable devices.

The program plans to increase the number of participants who are invited to receive genetic health-related results throughout 2023, including new participants.

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