NIH nominee Francis Collins gets a bum rap

This is a guest post by SimulConsult founder Michael Segal MD PhD.The New York Times describes an objection to President Obama's nomination of Dr Francis S. Collins as head of the NIH based on his leadership of the Human Genome Project (Pick to Lead Health Agency Draws Praise and Some Concern):

Although Dr. Collins was widely praised in 2003 when the effort succeeded, the hopes that this discovery would yield an array of promising medical interventions have greatly dimmed, discouraging many.Dr. Collins cannot be blamed for the unexpected scientific hurdles facing genetic research, but he played an important role in raising expectations impossibly high. In interviews, he called the effort “the most important and the most significant project that humankind has ever mounted” and predicted it would quickly allow everyone to know the genetic risks for many diseases.Some scientists and advocates for people suffering from diseases criticized the extraordinary amount of money and attention the sequencing effort garnered, saying it distracted from more fruitful areas of research.

Many people expected the Human Genome Project to lead quickly to major advances in treatment.  But already in its early years it was clear that just knowing the gene for a disease was often not enough to lead directly to a treatment.  The classic example has been Huntington disease; the gene was found in 1993 but we've gone 16 years without an effective therapy emerging.The major direct effect of the genome project, however, has been on diagnosis, not on treatment.  In the past decade there has been an amazing revolution in diagnosis, with the whole landscape of fields such as neurology changing as we re-define what an illness is, and what illnesses are related to one another at the molecular level.  Some of the benefits from this new ability to diagnose will be as slow as progress on Huntington disease, but others will be much faster, as we get surprises about common diseases being related to rare but treatable diseases that suggest new therapies that help millions of people.Dr. Collins may be wrong in his hunch that diabetes could be one of the big wins in the early phase of such an effort.  But even if the early wins are in areas such as ADHD or PMS, those making the advances will thank him for his efforts in laying the groundwork for the revolution in diagnosis that enabled their discoveries.