20% Enrollment For All of Us Program, Challenges Remain
By Bio-IT World Staff
August 15, 2019 | The All of Us research program announced updates today in a special report published in the New England Journal of Medicine (DOI: 10.1056/NEJMsr1809937). As of July 2019, the All of Us program has enrolled more than 175,000 core participants (those who contributed personal information, biospecimens, and physical measurements and who agreed to share EHR data) and more than 230,000 total participants; an additional 40,000 participants have registered on the website, the authors report. “More than 80% of these participants are from groups that have been historically underrepresented in biomedical research,” the authors observe.
The writing committee for the update includes Joshua C. Denny, M.D., Joni L. Rutter, Ph.D., David B. Goldstein, Ph.D., Anthony Philippakis, M.D., Ph.D., Jordan W. Smoller, M.D., Sc.D., Gwynne Jenkins, Ph.D., M.P.H., and Eric Dishman, M.S.
These numbers are, so far, exceeding the program’s goals. The All of Us program began enrolling patients in May 2018, focusing on racial and ethnic minorities and underrepresented populations—groups that haven’t had access to biomedical research and typically have poor access to health care. Most participants in the program will be recruited by health care provider organizations affiliated with All of Us; these include more than 340 regional medical centers, federally qualified health centers, and the Veterans Health Administration.
Volunteers enroll online or through an app. They are consented and take various health surveys within the All of Us online environment. Physical exams happen at the health care provider that recruited them, or—for “direct volunteers”—at a designated health clinic, blood bank, lab facility, or health care provider. Volunteers can choose to share their electronic health records through an affiliated health care provider, through Sync for Science, a new protocol developed by the Office of the National Coordinator for Health Information Technology, or through other third parties such as health information exchanges.
Enrollment—now at about 20% of the goal—is still a challenge, though. “Reaching persons who live in rural areas or far from recruitment sites may require alternative enrollment protocols,” the authors suggest, “such as the substitution of the use of blood specimens for DNA collection with the use of saliva specimens from kits that can be mailed.”
Collecting data from biosensors has long been a goal of the program. Currently, participants can choose to share their Fitbit data with the All of Us program if they have a device, the authors write. Other devices will be supported eventually as well.
Sharing the collected data—both with researchers but also with data donors themselves—has been a priority of the program since the beginning, and keeping data donors, researchers, and partner institutions engaged over the long term will be key to the success of All of Us, the authors write.
The program has worked to develop approaches that make data broadly available to approved researchers and participants all within a cyber-secure framework. The All of Us program is storing data online. Approved researchers will be able to use Web-based tools and interactive cloud-based computing environments to explore the data and test hypotheses with a passport model, granting researchers data access to study any topic that meets our criterion for allowable use. Identifying information will be removed from all participant data that are available to researchers. A public browser to explore the dataset was launched in May 2019, and initial tools for analysis will become available by early 2020.
“The All of Us data repository should permit researchers to take into account individual differences in lifestyle, socioeconomic factors, environment, and biologic characteristics in order to advance precision diagnosis, prevention, and treatment,” the authors write. Researchers’ names and brief descriptions of their projects will be made publicly available.
Participants in All of Us will have access to their own data and most results of research testing, though currently that only includes their own physical measurements and survey responses. “We are developing protocols for the return of genetic, laboratory-assay, and EHR data to participants; this development is guided by participant feedback and internal and external experts,” the authors write. “While these protocols are under development, we are prioritizing the return of information regarding two classes of health-related, actionable genetic variants to participants who have elected to receive such results. Pharmacogenomic results will be returned according to the guidance of the Clinical Pharmacogenetics Implementation Consortium.
“In addition, participants will be informed if they have highly penetrant genetic variants known to cause serious diseases for which there are established interventions; this reporting will be consistent with the recommendations of the American College of Medical Genetics and Genomics (ACMG) for reporting of incidental findings related to 59 genes.”
The authors estimate that 30,000 participants could receive actionable ACMG findings, and more than 90% may learn of actionable pharmacogenomic variants. The program is working to establish a genetic counselor resource to help those participants process findings.