The All of Us Research Program, a nationwide effort to gather information from 1 million or more people living in the United States, then use that data to accelerate health research and medical breakthroughs, has published its first genomic dataset featuring whole genome sequences from nearly 100,000 participants.
“Until now, more than 90 percent of participants from large genomics studies have been of European descent. The lack of diversity in research has hindered scientific discovery,” said Josh Denny, MD, 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. 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.”
Led by the National Institutes of Health, the All of Us Research Program officially opened at sites across the country in May 2018, including at University of California San Diego. The effort gathers genetic, biological, environmental, health and lifestyle information from volunteer participants, and serves as a national research resource for studies covering a wide variety of health conditions.
In the past, many communities, including racial and ethnic minorities, those who live in rural areas, and LGBTQ+ persons, have often been excluded from biomedical research. As a result, scientists know less about the health of historically underrepresented people in medical research and in ways to provide them with the best possible care, resulting in potentially less effective prevention and treatment strategies.
At UC San Diego School of Medicine, the All of Us Research Program is led by Lucila Ohno-Machado, MD, PhD, Distinguished Professor of Medicine, chair of the Department of Biomedical Informatics at UC San Diego Health, and associate dean for informatics and technology.
She is also principal investigator for the California Precision Medicine Consortium (CAPMC), which includes UC Irvine, UC Davis, UC San Francisco, Cedars-Sinai and the University of Southern California. CAPMC, in collaboration with San Diego Blood Bank and the El Centro Medical Center, has so far helped approximately 50,000 All of Us participants enroll, with 7,500 living in San Diego.
“As modern medicine seeks to become more precise and personalized, it necessarily requires more and more data to both understand the big picture of health and disease and, more specifically, how each person fits into the whole,” said Ohno-Machado. “With this first public genomic dataset, All of Us begins to meet its goals and expectations, allowing physicians and scientists to parse the mysteries and challenges of diseases across the health spectrum in new, individualized ways.”
The program’s data browser offers a summary view of genetic data from participants. Using this tool, anyone can search for specific genes or variants and see aggregate counts of their frequency in the All of Us dataset and the genetic ancestry of participants with each variant. Detailed genomic data is available to researchers in a heightened access level that also includes more granular demographic data and additional electronic health record data.
The new genomic data adds to information already available from electronic health records, surveys, and physical measurements.
Investigators from UC San Diego, such as Sally Baxter, MD, assistant professor of ophthalmology and division chief for Ophthalmology Informatics and Data Science at Shiley Eye Institute, have already conducted studies using phenotype (observable traits) data. The addition of genomes will help genetics and bioinformatics researchers do the same.
Recruitment for All of Us is ongoing. Volunteers must be at least 18 years old and can represent any gender, race, ethnicity or cultural background. Participants are invited to an initial in-person visit of 30 minutes to an hour, with regular online updates regarding health and lifestyle in subsequent months and years. For more information, visit All of Us Research Program at UC San Diego.