The All of Us Research Program began to return health-related DNA reports in late 2022. Today, more than 100,000 participants—maybe even you—have received their health-related DNA results. These results are not a medical diagnosis, but they could help inform your health care and your health care decisions.
The returned results include analyses of genes linked to some serious health conditions, such as heart disease and certain types of cancers. While we were getting DNA results ready to return, we found lots and lots of variants in those genes—32,500, in fact. Variants are small differences in your DNA, and some can affect your health.
About 7,000 of the variants we found had never been seen before in people who have had genetic testing. We were able to find so many because of the diversity of our participants. Your generosity in sharing your samples was key.
Now for some more good news: Finding these new variants is already helping health care providers do their jobs better. It’s happening because of a huge database called ClinVar.
ClinVar Collects the Clinical Variants
ClinVar is like an encyclopedia for genes and diseases. It was set up more than 10 years ago as an archive of gene variants that are linked to diseases. It also has gene variants that relate to how you might respond to a medicine.
Thousands of different scientists and labs study gene variants. With every discovery they make, a little piece of knowledge is created. When all those small pieces of knowledge are submitted to ClinVar, anyone can find them. And together, they can have a big impact.
Now All of Us has sent its findings to ClinVar too.
How ClinVar Is Used
Anyone can search in ClinVar. But it is especially useful for health care providers and researchers.
Imagine that a test shows you have a variant in a gene that’s linked to a disease. Your health care provider can go to ClinVar and read up on the scientific evidence—for example, about how that variant might affect your risk for the disease. That might help them find the right treatment if you’re sick. Or maybe together, you can decide on a course of action that prevents you from getting sick in the first place.
Researchers can use ClinVar too. Let’s say they’re studying a disease. They want to know what gene variants have been linked to that disease. Using ClinVar, they can learn what others have found out about the disease, the variants, and the connections among them. They may find out that their question has already been answered. Or maybe ClinVar will spark an idea for a new study.
Advancing Precision Health for Everyone
Health care tailored to you—based on your DNA, your environment, and your lifestyle—is called precision health. The goal of All of Us is to advance precision health for everyone. That’s why we collect so many kinds of data and make them available to researchers.
Submitting variants to ClinVar is part of that work. Of course, we do it in a way that protects your privacy. None of the information we send can be linked to a participant.
Thanks to you and our other participants, ClinVar is a more complete encyclopedia. That means more information for health care providers and researchers—and better health for all of us.
“The process for delivering information to All of Us participants has been used to also help improve genomic medicine testing and research around the globe,” said Heidi Rehm, Ph.D., a principal investigator at an All of Us genome center at the Broad Institute of MIT and Harvard. “This information sharing will make a difference in the lives of patients worldwide.”
And that information is extensive. All of Us is now a top-20 contributor to ClinVar based on volume. We also added much to the diversity of ClinVar information. That diversity can affect health discoveries.
“Diversity in data drives equity in health care—the All of Us Research Program’s contribution to ClinVar is a leap toward this vision,” said Janeth Sanchez, Ph.D., M.P.H., acting director of health equity for the program. “It paves the way for inclusive medical breakthroughs and transforming the landscape of precision medicine.”
More to Come
All of this is possible because of you, our participants. And there’s more to come—for researchers, participants, and people everywhere.
“Our commitment to diversity in the All of Us Research Program ensures that the genomic data we provide to ClinVar reflects the rich tapestry of our population,” said Geoffrey Ginsburg, M.D., Ph.D., the program’s chief medical and scientific officer. “This diversity is crucial for advancing precision medicine, particularly in understanding how genetic variations impact different communities and enhancing the ability to diagnose rare diseases. We will continue to help make ClinVar a rich resource for science and clinical medicine.”
We are grateful for and excited about everything we’ve accomplished so far. And we hope you’re excited for what’s in the future.