I can’t stop thinking about this:  Yesterday Vertex Pharmaceuticals reported early success with their new drug for cystic fibrosis, VX-770.  Designed specifically for the treatment of a specific mutation of CF, 6551d, it targets a defective protein critical to the disease process.  Patients showed sustained improvement in lung function.  There’s more work to be done here but there’s something to be said for what it potentially represents.

I was a medical student in 1989 when the first gene for CF was identified.  I remember reciting the location of the gene for the pediatric chief resident on rounds.  We were proud to be part of a field that was getting closer to understanding the root of such a devastating disease.  But my experience was much like that of doctors in the 19^th and early 20^th century, we could describe but there was nothing we could do.  The identification of genes just made us more reductive in our description.

VX-770 is not the first example of therapy designed and targeted to specific genotypes.  But perhaps what’s newsworthy is the fact that this wasn’t front-page news.  This is the way medical students are coming to see therapeutics. Targeted treatment is the way medicine will work in our generation.

I would encourage you to read Matthew Herper’s A Big and Dangerous Day for Personalized Medicine in yesterday’s Forbes.  Read between the lines and you’ll come a little closer to understanding the future of personalized medicine.  As Matthew says, “rare diseases are shockingly common.” And more we understand genetically the more common ‘rare diseases’ will become.

Food for thought.

If you like this you might pick up a copy of Thomas Goetz’s The Decision Tree.