Patients and families really can direct medical research
I was a medical researcher for several decades, investigating an unusual, but not rare, condition called infective endocarditis. I found the disease fascinating, primarily because of how understanding it could unlock many secrets of the endothelial cell, the cells lining all our blood vessels. I chose my research subject because it interested me and I thought I could do some good studying it. This is the case for most medical researchers.
Of course, there are incentives nudging researchers toward working on a particular disease. The main one is research funding. Most of my work was funded either by the National Institutes of Health or the American Heart Association. Both organizations, and others like them, from time to time issue invitations to apply for funding in a particular area, one identified by the organization as being in particular need of special support.
In general, though, the approach has been to let researchers propose to these organizations projects of interest to the investigators and let the funding committees choose the best among them. Directed research, telling investigators what to work on, has been viewed with suspicion; it is best to let smart people work on whatever they think best.
There are good reasons why this is a good default position. Very, very often directed research doesn’t get us answers because the answers often come from unexpected places. I can think of many examples where breakthroughs in understanding a particular disease came from research that, at first blush, seemed totally unrelated to it.
However, a problem with this paradigm is that, if no directed research happens, rare and unusual conditions may remain completely mysterious for years, maybe forever, because no medical researcher happens to be interested in them. Patient advocacy groups have an important role to play in such situations.
There’s an interesting example in a recent New England Journal of Medicine (here and here) of the potential power of these groups. (Unfortunately the full article and accompanying editorial are behind a paywall — I’d be happy to send the full articles to anybody who is interested.) The articles concern a very rare disorder called lymphangioleiomyomatosis, a devastating disease that can strike young women. Because it is so rare, it attracted little attention from medical researchers. Then a mother of a woman with the disease started a patient advocacy group and founded the LAM Foundation. Her tireless efforts attracted some interest, and the money the foundation offered to researchers served as seed money for them to develop grant funding proposals to organizations and agencies with deeper pockets. The LAM Foundation served as a kind of venture capitalist for the research effort. The result of this has been significant strides not only understanding this disease, but useful treatments, too.
I think the other important point to take from this example is that patient advocacy groups should aim to spend most of their precious resources, not on advertising and organizational structure (a chronic pitfall for nonprofits), but on actual research support undertaken on the advice of experts.