NIH program to build diverse health database for research publishes first genomic dataset of 100,000 participants

The All of Us Research Program, a nationwide effort to build one of the most diverse health databases for research in the world by gathering health information from a million or more people living in the United States, has published its first genomic dataset featuring whole genome sequences from nearly 100,000 participants across the country. This dataset is now available to researchers to use in the effort to accelerate health research and medical breakthroughs.

The University of Southern California recruited more than 5,000 of these participants as part of the California Precision Medicine Consortium, which includes UC Irvine, UC San Diego, UC Davis, UC San Francisco, and Cedars-Sinai.

“Our hope is that this will really transform the way medicine is conducted in the future and in particular help get underrepresented populations into the evidence base,” said Daniella Meeker, PhD, an associate professor of population and public health sciences at Keck School of Medicine of USC and the principal investigator for the All for Us program at USC. “In the past, we have not had good evidence, especially not genetic evidence, from underrepresented populations of racial and ethnic minorities. Even older patients tend not to be included in these studies. So our hope is that this project will change that, and we will have a much stronger base of research to guide medicine in the future.”

“Our main goal right now is to try to engage as many patients as possible…. Because we are in the Los Angeles region, we have a lot of diversity here, so we do try to reach out to minority populations.”

— Sue Kim, PhD, MPH, associate professor of clinical population and public health

Led by the National Institutes of Health, the All of Us Research Program has sites across the country gathering genetic, biological, environmental, health and lifestyle information from volunteer participants. The program aims to serve as a national research resource for studies covering a wide variety of health conditions.

As a benefit to participating in the research program, people who provide their information for the study now also receive their personal genetic information from DNA tests, similar to what one gets from private companies like 23andMe. Additionally, the program provides genetic counseling for people whose data shows genetic risk factors or variants that might be of concern. Participants in the program also receive a $25 gift card and free all-day parking.

Right now, the biggest goal for the project is to continue outreach in communities and clinics, so that providers and participants can add to and engage with the data. 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 lack data on how a disease or a treatment that has been researched predominantly in white people of European descent may affect people in diverse populations, which could result in potentially less effective prevention and treatment strategies.

“Our main goal right now is to try to engage as many patients as possible,” said Sue Kim, PhD, MPH, associate professor of clinical population and public health and co-investigator for the project at the Keck School. “Because we are in the Los Angeles region, we have a lot of diversity here, so we do try to reach out to minority populations.”

The program’s data browser offers an overview of the data from participants and allows anyone to 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. 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.

“This is really the first study of its kind that is making the data available for public use in a de-identified way,” Meeker said. “I’m really enthusiastic about the kinds of citizen science and research that might come out of this kind of data because there are things that we may not think about asking of the data that other people will think about. Most federally funded research does not make the data public in the way that this project does.”

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 JoinAllofUs.org/KeckUSC.