NIH All of Us Research Program releases genomic dataset

The nearly 100,000 whole genome sequences reflect contributions from diverse participants.

Share:

NIH All of Us Research Program NIH All of Us Research Program

Almost 100,000 highly diverse whole genome sequences are now available through the National Institutes of Health's All of Us Research Program. About 50% of the data is from individuals who identify with racial or ethnic groups that have historically been underrepresented in research.

This data will enable researchers to address as yet unanswerable questions about health and disease. Such studies could lead to new breakthroughs and advance discoveries to reduce persistent health disparities.

“Until now, over 90% of participants from large genomics studies have been of European descent. The lack of diversity in research has hindered scientific discovery,” said Dr. Josh Denny, a physician scientist and chief executive officer of the All of Us Research Program.

“All of Us participants are leading the way toward more equitable representation in medical research through their involvement,” Denny said. “And this is just the beginning. Over time, as we expand our data and add new tools, this dataset will become an indispensable resource for health research.”

UW Medicine’s Northwest Genomics Center in Seattle is one of three genome centers nationally in the All of Us Research Program.

“That not only means that we're generating the genotype and sequence data that scientists will use, and that will be returned to the participants, but we also are leaders in how that genotyping data will be used, what is important, and what is the best use of future data,” said Dr. Gail Jarvik, professor of medicine and head of the Division of Medical Genetics at the UW School of Medicine.

Jarvik and Evan Eichler, professor of genome sciences, have been involved with the All of Us project at the Northwest Genome Center since 2018. The late Deborah Nickerson, who was a professor of genome sciences, was also one of the original investigators. This NIH-funded genome center also partners with the Brotman Baty Institute for Precision Medicine in Seattle for this project.

“The goal is to have an accessible pool of very, very deep data that investigators anywhere can use to do their research,” Jarvik explained. “So, this will be a common good that will allow so many different kinds of questions to be addressed from medical health. And in particular, it will really help us understand the genomics of common diseases.”

Jarvik gave an example from UW Medicine studies that shows the importance of the diversity represented in the All of Us Program database: “While we were working on our own interest in colon cancer, we had a limited number of data from people of African ancestry. We're able to use the All of Us data to overcome that obstacle. And many, many scientists will find themselves in the same position of finally having data to improve the science that they're working on.”

She also explained how the All of Us Research program might help researchers discover better ways for clinicians to tailor care to the patient.

“The goal is to improve precision medicine, medical care that is aimed at the individual and not what works better in a giant population.”

Some of these precision medicine questions, she said, are: “What drugs are you at risk to have a bad side effect from? What drugs won't work for you? What drugs will? For common diseases: who's at higher risk of heart disease? For cancer: where we can take preventative steps or get an early diagnosis that will help?”

She went on to say that scientist are continuing to expand the dataset, with the hope of getting to a million participants or more.

The newly released genomic data is available to scientists via a cloud-based platform, the All of Us Researcher Workbench. The data also includes genotyping arrays from 165,000 participants. Whole genome sequencing provides information about almost all an individual’s genetic makeup, while genotyping arrays, the more commonly used genetic testing approach, capture a specific subset of the genome.

In addition to the genomic data, the Researcher Workbench contains de-identified information from many of the participants’ electronic health records, Fitbit devices and survey responses. The platform also links to data from the Census Bureau’s American Community Survey to provide more details about the communities where participants live.

This combination of data will allow researchers to better understand how genes can cause or influence diseases in the context of other health determinants. The ultimate goal is to enable more precise approaches to health care for all populations. To protect participants’ privacy, the program has removed all direct identifiers from the data and upholds strict requirements for researchers seeking access.

“There is a unique depth and dimensionality to the All of Us platform that sets it apart from other resources in the field. It’s also designed with team science in mind to allow researchers to explore topics in an open and collaborative way,” Jarvik said.

“As the Researcher Workbench matures,” she added, “it will create nearly endless possibilities for discovery to understand the role of genes and variants, as well as many other factors that combine to affect health and disease.”

The Researcher Workbench is made possible through the All of Us participants. Beyond making genomic data available for research, All of Us participants have the opportunity to receive their personal DNA results at no cost to them. So far, the program has offered genetic ancestry and trait results to more than 100,000 participants. Plans are underway to begin to share health-related DNA results on hereditary disease risk and medication-gene interactions later this year.

With this release of genomic data, All of Us now ranks among other large genomic research efforts worldwide, including the UK Biobank, the Million Veteran Program and the NIH’s Trans-Omics for Precision Medicine (TOPMed) program.

All of Us works with a consortium of partners across the United States to help reach participants and collect data and samples. These partners include community organizations, medical centers and others.

The Researcher Workbench is managed by Vanderbilt University Medical Center in collaboration with the Broad Institute of MIT and Harvard, and Verily. The program’s genome centers generate the genomic data and process about 5,000 participant samples each week.

In addition to the Northwest Genomics Center and its partners, the other two genomic centers for the All of Us Research Program are the Broad Institute, and Baylor College of Medicine in collaboration with Johns Hopkins University.

Color, a health technology company, works with the program to return personalized results to participants on genetic ancestry and traits, and the forthcoming health-related genetic results.

To learn more about All of Us data and resources for researchers, or to register for access, go to ResearchAllofUs.org.

To find out how to become a research participant, visit JoinAllofUs.org.

Update for local veterans: Dr. Edward Boyko, professor of medicine at the UW School of Medicine and adjunct professor of epidemiology at the UW School of Health, also works hand in hand on the All of Us Research Program. As part of his dual role at the VA Puget Sound Health Care System, Boyko serves as the Local Site Investigator for the VA-arm of All of Us. With a mission to ensure that Veterans are represented in this historic research effort, VA Puget Sound is currently enrolling interested Veterans. To learn more or enroll, visit Veterans.JoinAllofUs.org or call the VA Puget Sound All of Us team at 206.277.1210.

All of Us is a registered service mark of the U.S. Department of Health & Human Services.

About the All of Us Research Program: The mission of the All of Us Research Program is to accelerate health research and medical breakthroughs, enabling individualized prevention, treatment, and care for all of us. The program will partner with one million or more people across the United States to build the most diverse biomedical data resource of its kind, to help researchers gain better insights into the biological, environmental, and behavioral factors that influence health.

For more information, visit https://www.AllofUs.nih.gov/.

This news release is adapted from a news announcement from the National Institutes of Health.

Share: