NIH has more than 230,000 volunteers for PMI cohort
The National Institutes of Health has recruited almost a quarter of a million participants—about 25 percent of its recruitment goal—as part of the Precision Medicine Initiative’s All of Us research program.
Leaders of the program provided an update in the New England Journal of Medicine, reporting that more than 230,000 Americans have enrolled as of July.
“Elements of the program protocol include health questionnaires, electronic health records (EHRs), physical measurements, the use of digital health technology, and the collection and analysis of biospecimens,” states the NEJM special report. “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.”
Of the volunteers who signed up as of last month, the authors say more than 175,000 participants have contributed biospecimens and EHR data on more than 112,000 participants has been uploaded by 34 healthcare provider organizations.
According to NIH, the EHR data are being structured based on a common data model that has been used for other large initiatives.
“The All of Us program is harmonizing EHR data across sites and EHR vendors and reconciling other data, such as validated surveys and research measures, into a common data model in order to accelerate research interoperability and facilitate large-scale research such as machine-learning applications,” state the authors, who acknowledge that the harmonization of EHR data elements can be challenging.
Among the other “substantive” challenges facing the research program cited by the authors are fragmented, incomplete and inaccurate EHR data, as well as the fact that techniques to collect EHR data from direct volunteers are in their infancy.
Regarding the latter, the authors note that volunteers will be able to share their EHRs through Sync for Science—a new protocol developed by the Office of the National Coordinator for Health IT—or through other third parties such as health information exchanges.
“The program also uses passive means to collect longitudinal health data such as EHR data, including billing codes, laboratory and medication data, reports and narrative content,” according to the authors. “Its data and research center will link to other data sets, such as national death indexes, pharmacy data, healthcare claims data and geospatially linked environmental data.”
The All of Us program was officially launched in May 2018 and enrolls participants digitally via a website or a smartphone app. The de-identified data gathered as part of the program is being stored in the cloud, and approved researchers will leverage web-based tools and interactive cloud-based computing environments to use the data for their research.
The paper’s authors point out that volunteers in the program will have access to their own data and most results of research testing.
“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,” state the authors. “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.”
Over the course of collecting and analyzing data on the entire cohort, the authors predict that about 30,000 persons will receive actionable findings for American College of Medical Genetics and Genomics genes, and more than 90 percent may learn of actionable pharmacogenomic variants.
“The All of Us program is in the process of establishing a genetic counseling resource for participants who receive actionable genetic results,” add the authors.