The President has asked for $200 million for NIH in FY 2016 for PMI; NCI would receive $70 million and the cohort would get $130 million.
The recent meeting, webcast to the public and, according to a quip by NHGRI director Dr. Eric Green, harder to attend in person than the Super Bowl, focused on building the large national cohort, using the model of sizeable cohorts already in place in other aspects of research.
Speaker after speaker said the time is finally right to tackle precision medicine. According to the White House, PMI “will leverage advances in genomics, emerging methods for managing and analyzing large data sets while protecting privacy, and health information technology to accelerate biomedical discoveries.”
NIH director Dr. Francis Collins admitted that a similar proposal he argued for in a Nature paper published in May 2004 failed to gain traction. But that was before the cost of genomic sequencing shrank dramatically (a 100,000-fold drop in 15 years), many began carrying a smartphone and electronic medical records were adopted by more than 95 percent of U.S. hospitals.
“We have spent many years thinking about this kind of an enterprise,” said Collins, who first broached the topic with Obama in a meeting last June at the White House. The President had asked for a plan of what an initiative focused on precision medicine might look like. Last fall, NIH, with the Office of Science and Technology Policy, FDA and HHS’s Office of the National Coordinator for Health Information Technology, produced a concept that impressed the President enough that Obama made PMI a part of his State of the Union address.
“We’ve been given an amazing charge by someone deeply convinced of the value of this enterprise,” Collins said of the President.
Collins noted that PMI is not a new idea—people are long familiar with prescription eyeglasses and are well aware that blood transfusions require cross-matches between donor and recipient. “The prospect of a broader application has been emerging for some time,” he explained, adding that a 2011 report on precision medicine by the National Research Council laid out the need for a “rigorous research program to provide scientific evidence for PMI…not a monolithic, top-down enterprise.”
Yale’s Dr. Rick Lifton (l) and Dr. Pearl O’Rourke of Partners Health Care System, Boston, were key participants in the recent 2-day PMI workshop at NIH.
Photos: Ernie Branson
Collins said PMI is an opportunity, much like the Human Genome Project and the current BRAIN Initiative, to recruit the best and brightest to advise NIH on plans that are “specific, actionable and transformational…This is a nascent, compelling, exciting, promising idea.”
“We have only the barest framework for this initiative,” said Dr. Kathy Hudson, NIH deputy director for science, outreach and policy, who along with Dr. Rick Lifton of Yale University will co-chair a PMI working group to the advisory committee to the NIH director. She said the group will name its members soon and will provide Collins with a detailed report by September.
“This is the first of many conversations,” said Hudson, who noted that patients and the public, in addition to private industry, will be included in planning. Four cohort working groups produced white papers in advance of the workshop. They focused on: cohort identification/recruitment, participant engagement/privacy, data collection/mobile technologies and electronic health records.
Collins offered a hypothetical example of what PMI success would look like: a woman, 50, with type 2 diabetes would receive a tiny, implantable chip that would record her blood glucose levels. That would yield useful prescription information and dietary advice. “That could happen as soon as 2 years from now,” he said.
“Then, after 5 years, a new drug might be developed. At age 60, presumably she would be very happy she participated, and then her kids could join [the study]. That’s the kind of image I’d like to see, multiplied about a million times.”
At the end of day 2, Collins summarized some of the issues at stake for the national cohort, whose 1 million potential enrollees, he said, “should be considered a floor, not a ceiling...the power of analysis gets better and better with more and more participants.” These include identifying and testing biomarkers, achieving unbiased determination of risk, testing the concept of mHealth (mobile health, or smartphone based technology), testing pharmacogenomics (the right drug for the right patient at the right time), improving electronic health records and, crucially, speeding up the health care response to evidence, in order to “shorten a dreadfully long cycle time.”
As yet undecided are whether children should be enrolled, whether interventions should be part of the initiative, what data to capture on participants and whether the cohort should have tiers, with some enrolling in “cohort lite.”
Collins also said it’s important that any data returned to participants should be done “in a beneficial, not confusing, way.”
He concluded, “We are extremely enthusiastic about the potential [of PMI], but realize there are many uncertainties ahead…This could be really consequential for human health.”
The entire 2 days of deliberation are available at http://videocast.nih.gov/summary.asp?Live=15751&bhcp=1 (day 1) and http://videocast.nih.gov/summary.asp?Live=15753&bhcp=1 (day 2).