The National Institutes of Health (NIH) has released the largest data update in the history of its All of Us Research Program, expanding access to one of the world's most comprehensive biomedical research resources. With data now available from more than 747,000 participants, the program has become the world's largest integrated genomic and electronic health record database, providing researchers with a rich resource for precision medicine studies.
The latest release includes more than 535,000 whole genome sequences linked to nearly 482,000 electronic health records (EHRs). It adds data from more than 114,000 additional participants compared with the previous release, bringing total program enrollment to more than 883,000 people.
The expansion of genomic databases and multiomics research
Beyond its size, the latest release expands the program's multiomics capabilities by introducing additional molecular datasets. Researchers now have access to proteomics data from nearly 10,000 participants and RNA sequencing data from nearly 9,000 participants.
The release also includes long-read whole genome sequences from more than 14,500 participants, providing additional opportunities to study structural variation and complex regions of the genome.
"All of Us reflects the trust of people across the country who chose to contribute to research to benefit everyone," said Josh Denny, MD, chief executive officer of the All of Us Research Program. "By making this rich dataset available, we're enabling researchers to ask new questions about health and disease that weren't previously possible."
The cloud-based All of Us Researcher Workbench now includes:
- More than 1.3 billion genetic variants
- More than 553,000 genotyping arrays
- Approximately 96,000 structural variant records
- Around 600,000 physical measurements
The update also expands electronic health record data by 22 percent through additional participant-authorized health information, providing researchers with more longitudinal health data for analysis.
Advancing diversity in precision medicine research
A longstanding challenge in biomedical research has been the underrepresentation of many populations in genomic datasets. The All of Us Research Program seeks to address this by prioritizing enrollment from communities that have historically been underrepresented in biomedical research.
More than 645,000 participants—representing 86 percent of the total cohort—come from these historically underrepresented groups, including older adults, women, and people living in rural communities.
Participants now represent all 50 states and US territories, covering more than 98 percent of US three-digit ZIP codes. This broad representation may help researchers evaluate findings across more diverse populations than has historically been possible with many genomic datasets.
The expanded resource has already supported studies including the development of a clinical genetic test that predicts inherited risk across eight cardiovascular conditions and a prostate cancer risk model currently being evaluated in a clinical trial involving 5,000 US veterans.
How researchers can use the expanded dataset
Approved researchers can access the All of Us Researcher Workbench at no cost after completing the required registration and data access process. The secure, cloud-based platform allows users to analyze genomic, clinical, survey, wearable device, and multiomics data within a unified research environment.
For laboratory researchers, the expanded dataset may support a variety of research activities, including:
- Exploring relationships between genomic and clinical data
- Developing and evaluating bioinformatics methods
- Integrating genomic, proteomic, RNA sequencing, and clinical datasets for multiomics research
- Investigating disease risk across diverse populations
As the All of Us Research Program continues to grow, the expanding dataset provides researchers with an increasingly comprehensive resource for studying human health, disease, and precision medicine while supporting discoveries across a broad range of biomedical research fields.
This article was created with the assistance of Generative AI and has undergone editorial review before publishing.
