Last month, President Obama announced the $215M Precision Medicine Initiative (PMI). We now have specifics, or at least a detailed outline, of what the PMI will encompass. Of course the final numbers await Congressional input and approval, but a plan is in motion.
In the weeks following the announcement, a predictable chorus of critics has unloaded predictions or cast aspersions. Some pundits oppose Big Science on principle. Ancipating resistance of this kind, the President and others have touted an economic analysis of the Human Genome Project showing healthy return on investment, though there's debate about the exact multiplier effect. More well informed critics point out that there's nothing new about the concept of precision medicine, which many have been calling by another name, personalized medicine, and before that term was in vogue, individualized medicine. (Before 1980, presumably it was simply called medicine). The less well informed critics trotted out anachronistic talking points about the limits of genomics, or point out that previous hype has gone unfulfilled while ignoring recent paradigm-shifting advances, like the cystic fibrosis drug Kalydeco.
Boosters of the PMI concentrate most of their approbation for the $130M going toward building a one million volunteer registry, the beta version of a digital health commons, as John Wilbanks calls it. As NIH Director Francis Collins made the case in NEJM, oncology is low hanging fruit and the logical place to roll out the PMI. You can make the argument that there would be no Kalydeco without Gleevec, the first of the so-called targeted therapies. Standardizing patient data, making consent portable, and bringing genetic stratification to clinical trial design are praiseworthy investments with the potential for far-reaching effects. And let's not forget that FDA will get $10M and prerogative to handle the growing volume of direct-to-consumer genetic tests.
What do I think? For the most part, I support the PMI, though it would have been nice to see the basic science aspects of the initiative trumpeted more. Especially since we're in a funding climate that is increasingly hostile or indifferent to open-ended, curiosity-driven research. My only complaint is that the plan is too focused on oncology, which is doing quite well on its own thanks to private investment. For example, the $70M going to cancer is a drop in the bucket compared to bucket loads of cash flowing into cancer immunotherapy and other new approaches.
Could the private sector achieve the goals of the PMI? Sure. Personal genomics company 23andMe already has a genotype+phenotype database with close to 1M participants. But anyone who's been following their story knows they've had a helluva time. So the private sector can build a digital health commons and can run smarter clinical trials, too. But can the private sector guarantee ethnic and socioeconomic balance within the dataset, and voluntarily adhere to precompetitive openness? I think of the PMI's 1M volunteer registy as a public option, keeping the private sector's efforts honest.
One place I thought the PMI rollout fell short was in the area of rare diseases, but I'm probably just being impatient. The later stages of the PMI will certainly address rare diseases like cystic fibrosis, which received such a vigorous shout-out in the unveiling of the PMI. In the meantime, you and I can add our voices to the discussion.