NIH Director Jay Bhattacharya on July 2 announced the largest-ever data release from the All of Us Research Program, making data from more than 747,000 participants available to researchers.
The latest release includes more than 535,000 whole genome sequences linked to nearly 482,000 electronic health records, creating what NIH described as the world's largest integrated genomics and electronic health record database to support precision medicine research.
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Bhattacharya said the scale of the database is essential to developing more personalized healthcare.
"There's a paradox at the heart of precision medicine. To tailor treatments to individuals, you actually need very large populations to uncover the patterns that connect genetics, lifestyle, and the environment to health outcomes. That is exactly what All of Us provides: research at unprecedented scale,” he said.
The release adds more than 114,000 participants since the previous version, bringing total enrollment in the program to more than 883,000 people. The dataset now contains more than 1.3 billion genetic variants, 553,000 genotyping arrays, 96,000 structural variant records, 600,000 physical measurements, and survey data from 747,000 participants.
Electronic health record data also expanded by 22 percent, driven by participant-submitted records and health information exchange data.
All of Us Research Program CEO Josh Denny, said the expanded dataset reflects the contributions of participants nationwide.
"All of Us reflects the trust of people across the country who chose to contribute to research to benefit everyone. This release puts a richer dataset into the hands of scientists working on real clinical problems. This is how we advance the health of all Americans."
According to NIH, more than 645,000 participants–about 86 percent of the total–come from communities historically underrepresented in biomedical research, including older adults, women, people with disabilities, people of all races and ethnicities, and residents of rural and non-metropolitan areas. Participants represent all 50 states and U.S. territories and more than 98 percent of U.S. three-digit ZIP codes.
The release also marks the program's entry into multiomics research, adding proteomics data from nearly 10,000 participants, RNA sequencing data from nearly 9,000 participants, and long-read whole genome sequences from more than 14,500 participants. NIH said additional multiomics datasets are planned later this year.
Researchers have already used All of Us data in more than 1,400 peer-reviewed publications. NIH highlighted studies that developed a genetic test to predict inherited risk for eight cardiovascular conditions, validated a low-cost prostate cancer risk model now being tested in a clinical trial involving 5,000 U.S. veterans, and identified existing medications and genetic changes that may help prevent Alzheimer's disease.
The program has also returned more than 733,000 personalized DNA health results to over 277,000 participants, which NIH said is the largest return of genetic results to research participants in history.
Bhattacharya said the resource is intended to support researchers across the country, regardless of their institution.
"I see All of Us as a national treasure. This is an accessible, foundational platform that investigators at every career stage in institutions across the country can use to tackle our most pressing health challenges."
The CDRv9 dataset is available at no cost to registered researchers through the program's cloud-based Researcher Workbench. NIH said the initiative, authorized under the 21st Century Cures Act, aims to build one of the nation's most diverse health databases to accelerate research and improve health outcomes for future generations.
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