Precision Medicine at one year: A soaring White House summit and the potholes ahead

We’re pleased to publish the following guest post by Dr. Michael Joyner, a medical researcher at the Mayo Clinic who recently joined our team as a contributor. These views are his own. You can follow him on twitter @DrMJoyner.

Last week there was a big shindig at the White House reviewing progress from the first year of the million-person Precision Medicine Initiative (PMI).

As you might imagine, an event of this magnitude drew considerable (mostly glowing) coverage from major US health news media:

• Washington Post: White House to mark a year of effort on precision medicine initiative. Excerpt: In a briefing with reporters Thursday, NIH Director Francis S. Collins called the effort “the largest, most ambitious research project of this sort ever undertaken.”

• US News & World Report: Obama: Precision Medicine Initiative is First Step to Revolutionizing Medicine. Excerpt: “We may be able to accelerate the process of discovering cures in ways we’ve never seen before,” Obama said at a conference which brought together representatives from federal science agencies, academia, industry and patients with compelling personal stories of how they’ve turned a medical crisis into an opportunity for discovery – in some cases leading to advances that could help others.

• Associated Press: Obama administration moving ahead with major project to match treatments to people’s genes Excerpt: Obama said Thursday that pooling so much data, from diverse groups of people, will speed researchers’ ability to more quickly discern patterns in who develops certain diseases and who doesn’t, and who responds to one treatment or another.

• STAT: Obama pushes precision medicine research, with help from Google Excerpt: Dr. Francis Collins, director of the NIH, said that while the Precision Medicine Initiative isn’t aimed at any specific disease, it could make it easier in the future to launch clinical trials that are more narrowly focused. With such a large group of motivated volunteers who are willing to share their health information, Collins said, “this could be a very efficient way, going forward, to mount clinical trials to answer specific questions.” [Note: STAT has previously reported critically on aspects of this initiative, coverage which is acknowledged further down in this post.]

This is an exciting scientific undertaking — one that merits the attention these outlets have devoted to it. But the coverage sounded mostly like cheerleading, and none of these stories included a skeptical word about the many challenges ahead and how they could thwart the initiative’s lofty objectives. I watched the webcast of the event with a critical eye and took notes as I was watching. Here are a six of the things that I thought journalists should have been thinking about and writing about as they covered the event:

1) A number of new partnerships and pilot programs related to enrollment of participants, data sharing, analytics, biobanks and privacy were announced. There are no real results yet, so it is simply too soon to tell what elements of what was announced will succeed, partially succeed, or stall.

2) Francis Collins, the director of the National Institutes of Health and a prime mover in Precision Medicine, clearly stated that it should take three to four years to meet the one million person enrollment goal of the program. This is an ambitious timeline. The last time that something like this was tried in the National Children’s Study, enrollment goals were never met and the program was ultimately cancelled. As STAT has previously reported, experts in population health have observed similarities between the PMI and the National Children’s Study and the comments by Dr. Collins are a clear marker for evaluating the success of PMI going forward.

3) There were a number of interesting presentations of patient and family vignettes at the meeting. While PMI is supposed to transform health and healthcare for all Americans, three of the four stories were about extremely rare diseases that have nothing to do with the big killers like diabetes, cancer, and heart disease. There is no argument by PMI skeptics about the role of gene sequencing in rare diseases, but dealing more effectively with those diseases has nothing to do with the prediction, prevention, and improved treatment of the major causes of death. The fourth presentation was about breast cancer and it was unclear to me exactly what elements of precision medicine were involved in the care of this patient (who happened to be a surgeon). In the absence of big transformative population findings for common diseases, some might argue that the rare disease community is being leveraged to generate support for a much larger and perhaps misdirected program.

4) There was no mention of some of the potholes that are out there or that have emerged in the last year. For example, the National Cancer Institute’s MATCH trial, designed to match the genetic signatures of tumors with targeted therapy, is having trouble “matching” (subscription required). And a study from Europe has cast at least some doubt on just how effective broad-based used of “targeted therapy” will be. There is also plenty of room to question the idea that data mining electronic health records is going to be transformative. The barriers to actually getting this done are significant and range from the quality of the data in electronic health records, issues related to who owns the data, protocols for data sharing, and a host of technical and statistical issues. Big data can certainly be helpful but it can also mislead.

5) Another one of the big problems emerging when healthy people are gene tested is that most of us carry gene variants that have been categorized as “pathologic.” However, these variants are highly unlikely to in fact cause problems. This has been called the “incidentalome” and it could create a rabbit hole of false positive tests that could lead to expensive and risky over diagnosis and treatment.

6) President Obama’s comments about who owns your genetic data — and his belief that an individual does — received even more widespread coverage than the scientific aspects of the initiative. Working out issues related to data ownership is going to be one of the interesting non-scientific stories in all of this.

One other thing that struck me as I watched the webcast was that Dr. Rob Califf, the new head of the FDA, was sitting in the front row. Dr. Califf has been controversial because of concerns about conflicts of interest, but there is no doubt that he has been a champion of data-driven randomized clinical trials and evidence-based medicine for more than 30 years. There is also no doubt that he knows as much as anyone about the utility and limitations of medical records in research. I wonder what he really thought as he listened to the anecdotes and promissory notes at the White House last week. I wish someone had asked him.