NIH Approves Blueprint for Obama's Precision Medicine Initiative

In a conference call with reporters, the director of the National Institutes of Health (NIH) Francis Collins, MD, PhD, announced that the Precision Medicine Initiative (PMI) Working Group had created an action plan that could help propel President Obama’s vision to better integrate personalized medicine in healthcare. “We now have a design plan and it's time to move forward,” said Collins. A nationwide search will be initiated for a leader for the project, he said—in the interim, Josephine Briggs, MD, director of the National Center for Complementary and Integrative Health, will serve as the acting director.

The working committee convened by the NIH brought together a diverse group of experts from across the healthcare spectrum, which included academic research centers, philanthropic organizations, patient advocacy, as well as the pharmaceutical industry. The committee held several workshops to gain additional expert as well as public insight and to shape their thoughts on several important issues.

According to the summary statement in the report, the PMI Cohort Program (PMI-CP) is planning to build a cohort of at least one million Americans. The working group has provided detailed guidance on 6 main topics in its report: cohort assembly, participant engagement, data, biobanking, policy, and governance. The report also provides direction for an optimal design of the PMI cohort, including:

• the development of quantitative estimates of risk for a range of diseases by integrating environmental exposures, genetic factors, and gene-environment interactions
• identifying determinants of individual variation in efficacy and safety of commonly-used therapeutics
• developing biomarkers to assess risk of common diseases
• use of mobile health technologies to correlate activity, physiologic measures, and environmental exposures with health outcomes
• determine health impact of heterozygous or loss-of-function mutations
• developing new disease classification or relationships
• empower participants with enough information/data to better manage their health
• create platforms to enable trials of targeted therapy.

During his call, Collins discussed plans to start recruitment of study volunteers next year. Initial genetic testing will only include genotyping (which would cost $30 to $40 per person) rather than whole genomic sequencing, which is the ultimate goal but could currently cost in the millions per person. President Obama’s request for $130 million for the study portion of the project is still under consideration with the lawmakers. Enrollees would include new volunteers who wish to participate and those who have already enrolled in large study cohorts through their health plans such as Geisinger Health System, Kaiser Permanente, Mayo Clinic, and Marshfield Clinic.