The National Institutes of Health (NIH) is seeking feedback from the scientific community via a Request for Information (RFI): NIH Precision Medicine Cohort (NOT-OD-15-096) to guide it in creating a longitudinal cohort of one million or more Americans who have volunteered to participate in research as part of the President’s proposed Precision Medicine Initiative (PMI) (see Update, April 21, 2015).
Specifically, the agency is seeking information on characteristics, purpose, or other overall aspects in the development and implementation of a large U.S. precision medicine cohort. As participants in PMI, individuals will be asked to give consent for extensive characterization of biologic specimens and behavioral and environmental data, all linked to their electronic health records (EHRs). Qualified researchers will have access to the cohort’s de-identified data for research and analysis.
Precision medicine is defined as “the application of prevention and treatment strategies that take individual variability into account.” The NIH explains that this is not a new concept but opportunities for evidence-based precision medicine have greatly expanded as a result of the development of better large-scale biologic databases and computational databases, among other things. However, there is still a need for a research resource for developing and validating new approaches to precision medicine that “could be used to guide clinical practice ultimately to improve health.”
NIH’s goals for the NIH Precision Medicine Cohort are to enable better assessment of disease risk, understand disease mechanisms, and predict optimal therapy for a broad range of diseases through the study of a large group of people. These data will also enable observational studies of drugs and devices and potentially prompt more rigorous interventional studies that address specific questions. Participants may come from existing ongoing studies. In addition, participants may also be recruited de novo or be ascertained at random or by disease status.
The RFI emphasizes that characteristics of such a large-scale study that might maximize its research value may include:
- A sufficiently large number of participants to achieve adequate power for common disorders and reasonable representation of rare disorders;
- Intentional over-sampling of populations underrepresented in research to permit meaningful inferences about these groups and to study health disparities;
- A broad age range to provide information on disorders from infancy to old age;
- A broad range of genetic backgrounds and environmental exposures;
- A broad array of clinical and laboratory information, not limited to any single disease, as well as patient reported outcomes;
- Sophisticated dietary, other lifestyle, and environmental exposure assessment, preferably provided directly from participants using mobile devices and wearable sensors;
- Access to comprehensive electronic health data on participants for baseline, follow-up, and possibly also retrospective (prior to study entry) data collection, as well as return of actionable results for use in their clinical care;
- Return of appropriate information and results to participants as they desire;
- Collection and storage of biological specimens;
- Access to study data and biologic materials to qualified researchers to empower research on many diseases by researchers in many sectors;
- Community engagement in the design and implementation of the study, including a state-of-the-art consent process, to allow multiple uses of the data, regular feedback to participants about findings and progress; and
- A study design that ensures a high follow-up rate.
Therefore, the agency is seeking comments that address:
- Optimal study design and sample size for such a cohort.
- Data to be collected at baseline and follow-up, including mode of collection and frequency and length of follow-up.
- Potential research questions that could be uniquely or more efficiently and effectively pursued.
- Other suggestions for NIH to consider in the development and implementation of such a research cohort.
Finally, NIH is also interested in suggestions for existing or potentially new research entities that might be combined into a large U.S. cohort.