Bold Blueprint for Precision Medicine Initiative’s Research Cohort

Posted on September 23, 2015 by Dr. Francis Collins

Caption: #PMINetwork Twitter chat with @NIHDirector Francis Collins, NIH Media Branch’s @RenateMyles, and, in background, PMI Cohort Program Acting Director @NCCIH_Josie Briggs.
Credit: @KathyHudsonNIH

Readers of this blog know how excited I am about the potential of precision medicine for revolutionizing efforts to treat disease and improve human health. So, it stands to reason that I’m delighted by the positive reactions of researchers, health professionals, and the public to a much-anticipated report from the Precision Medicine Initiative (PMI) Working Group of the Advisory Committee to the NIH Director. Topping the report’s list of visionary recommendations? Build a national research cohort of 1 million or more Americans over the next three to four years to expand knowledge and practice of precision medicine.

When the President announced PMI during his 2015 State of the Union address, he envisioned a precise new era in medicine in which every patient receives the right treatment at the right time—an era in which health care professionals have the resources at hand to take into account individual differences in genes, environments, and lifestyles that contribute to disease. To achieve this, PMI’s national research cohort would tap into recent advances in science, technology, and research participation policies to build the knowledge base needed to develop individualized care for all diseases and conditions.

The Working Group’s report was accepted unanimously and enthusiastically by the Advisory Committee to the Director last Thursday. Based on that response, I formally accepted the recommendations and announced we would move into the implementation phase. To get a better feel for what Americans are thinking about PMI, I took part yesterday in a Twitter chat co-hosted by NIH and the White House Office of Science and Technology Policy. Also participating were Josephine Briggs, director of NIH’s National Center for Complementary and Integrative Health, who is serving as interim director of PMI Cohort Program while a search is underway for a permanent chief; and two of the Working Group’s three co-chairs, NIH Deputy Director for Science, Outreach and Policy Kathy Hudson and Bray Patrick-Lake, Director of Stakeholder Engagement for the Clinical Trials Transformation Initiative, Duke University, Durham, NC.

The Twitter chat proved to be quite popular, attaining a reach of more than 76 million potential impressions and attracting some 2,975 comments from 480 participants in 36 states. For a taste of the discussion, here’s a quick sample of what some of those folks were saying:

“Another remarkable aspect of #PMINetwork is appreciation of confluence of biology, environment, context, circumstances. The whole gemisch” @hmkyale

“Improved #communications, education can end #healthcare fragmentation so #PrecisionMedicine can fulfill its promise.” @Betsy_RSHC

“When can we start enrolling? I’m ready! #PMINetwork.” @trluperchio

In addition to the buzz on social media, the Working Group’s framework for the research cohort component of PMI attracted the attention of both mainstream and scientific media. While the news coverage was generally good, there remain a few misconceptions I’d like to clear up. At least one headline said that NIH planned to build a “genetic database.” While it’s true that genetic analysis will be a key part of PMI, the cohort will involve far more than simply studying DNA. In fact, the cohort will use a variety of innovative tools and technologies to gather information on participants’ behaviors, lifestyles, and environmental exposures as a means to better define how these factors influence health and disease. For example, it’s easy to envision using smart phone apps or other mobile health devices to monitor participants’ physical activity, track their sleep patterns, measure various aspects of cardiovascular function and metabolism, and even detect changes in the microorganisms living in or on their bodies. It’s also a good bet that a lot of data will be gathered to improve understanding of the aging process, as well as health differences between males and females.

Some have asked what will be done to safeguard the privacy of people who volunteer for the PMI research cohort, which is expected to start enrolling participants sometime next year. This responsibility is a high priority for the project. Last month, the White House completed its public comment period on PMI’s proposed privacy and trust principles, which are aimed at protecting participants’ personal data while, at the same time, making essential research data broadly available to qualified scientists.

Finally, I’d like to extend my sincere thanks to all 19 members of the PMI Working Group, especially its three hardworking co-chairs: Dr. Hudson, Ms. Patrick-Lake, and Dr. Rick Lifton of Yale University School of Medicine, New Haven, CT. It’s also been fantastic for NIH to partner on PMI planning with the White House’s Office of the National Coordinator for Health Information and the Food and Drug Administration (FDA). In fact, the recently named nominee for FDA Commissioner, Dr. Robert Califf, was an ex officio member of the PMI Working Group. With these and so many more great minds involved in drawing up this bold blueprint for PMI, I look forward to the day—hopefully, in the very near future—when NIH can set to work turning this exciting vision into extraordinary opportunities for moving precision medicine into all areas of health.

Links:

PMI Working Group Final Report

NIH framework points the way forward for building national, large-scale research cohort, a key component of the President’s Precision Medicine Initiative, NIH News Release, Sep. 17, 2015.

Precision Medicine Initiative: Proposed Privacy and Trust Principles (The White House)

Precision Medicine Initiative (NIH)