The National Institutes of Health’s All of Us Research Program has made 250,000 whole genome sequences available to US researchers to advance population health and precision medicine. The dataset, which includes a range of patient-related health information, will provide data on sleep and activity, physical measurements, surveys, and Fitbit devices, and represents genetic variations in almost one-third of the entire human genome. The program aims to collect data from at least one million Americans within a decade, and this expansion comes after the program’s first genomic dataset, which contained 100,000 whole genome sequences, was released last year.
The National Institutes of Health’s (NIH) All of Us Research Program has announced the availability of 250,000 whole genome sequences for researchers in the US. This move is a significant advancement in the field of precision medicine research, with the program’s aim to collect and study US health data to advance population health and precision medicine. All of Us began national enrollment in 2018, intending to gather data from at least 1 million Americans within a decade.
The All of Us Research Program 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.
The chief data officer of the All of Us Research Program, Andrea Ramirez, MD, MS, said, “For years, the lack of diversity in genomic datasets has limited our understanding of human health. 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.”
The expanded data 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.
Josh Denny, MD, MS, CEO of the All of Us Research Program said, “When All of Us began national enrollment five years ago, we were excited about the promise of how we could advance health research. 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.
The program is a significant effort to overcome the lack of diversity in genomic datasets and advance our understanding of human health. Access to such a large and diverse dataset will enable researchers to study various diseases and develop personalized treatments, ultimately leading to a healthier future for everyone.
