“All of Us” Program Expands Whole Genome Data Available to Researchers

The National Institutes of Health's (NIH) All of Us Research Program announced that 250,000 whole genome sequences are now available to researchers in the US for use in precision medicine research, according to a press release emailed to journalists.

The program is a large-scale effort to collect and study US health data to advance population health and precision medicine. All of Us began national enrollment in 2018 with the goal of gathering data from at least 1 million Americans within a decade.

The program’s dataset contains a variety of patient-related health information, including genomic, clinical, COVID-19, social determinants of health, and other data.

The newly expanded data provides this information and more for over 413,450 participants, 45 percent of whom self-identify with a racial or ethnic group that has been historically underrepresented in medical research.

“For years, the lack of diversity in genomic datasets has limited our understanding of human health,” said Andrea Ramirez, MD, MS, chief data officer of the All of Us Research Program, in the press release. “By engaging participants from diverse backgrounds and sharing a more complete picture of their lives – through genomic, lifestyle, clinical and social environmental data – All of Us enables researchers to begin to better pinpoint the drivers of disease.”

Alongside whole genome sequences for these participants, the expanded data also include information from electronic health records, physical measurements, surveys, and Fitbit devices, which will provide data on sleep and activity.

All of Us has also released over 1,000 detailed long-read sequenced genomes, a novel data type with the potential to give researchers a more complete understanding of the human genome.

Using these data, which represent genetic variations in almost one-third of the entire human genome, researchers may be able to identify important genetic risks for certain diseases, develop predictive markers for disease risk, and understand the varying effectiveness of particular drugs in different patients.

"When All of Us began national enrollment five years ago, we were excited about the promise of how we could advance health research,” said Josh Denny, MD, MS, chief executive officer of the All of Us Research Program. “Now, through a partnership with participants, researchers, and diverse communities across the country, we are seeing incredible progress towards powering scientific discoveries that can lead to a healthier future for all of us.”

This expansion comes after the program’s first genomic dataset, which contained 100,000 whole genome sequences, was released last year.

Other data expansions within the program have also happened recently.

In June, All of Us shared that health data from 20,000 people who have had SARS-CoV-2 would be available to researchers to encourage the study of long COVID, social determinants of health (SDOH), and health disparities.

In December, the program began returning personalized health-related DNA results to more than 155,000 participants, detailing each individual’s risk for certain health conditions and how their body might process some medications.