The Search

1

My hospital—in fact, my entire university—has a new research mission: precision medicine. The other term for this is personalized medicine. Regardless of terminology, the goal is clear. Using advances in DNA sequencing, we can potentially run a patient’s entire genome in a few days at less than two thousand dollars. By comparison, this same effort a decade ago took years and cost about three billion dollars. The promise of such rapid sequencing is that we can tell a patient, particularly one without a diagnosis, what disease he or she has, what in his or her genome is responsible for this disease, and which available therapeutics might be able to address those responsible genes. If the therapies are not available, we can potentially (aided by large sums of pharmaceutical industry money) create them. This was announced with big fanfare at a lecture from the new director of the Institute for Genomic Medicine, recruited away from a rival university. In his talk, he relayed the story of two children who were facing certain death until whole genome sequencing uncovered the roots of their diseases. He fought back tears when he told us how one of the patients, with just a simple therapy of vitamin B, went from being completely immobile to slapping high fives with her researchers. I listened to these tales and grew excited, because I’d just received a large NIH grant to study the genetics of rare kidney diseases, but also apprehensive, because I worried that patients would expect too much out of precision medicine. The high-fiving girl on vitamin B therapy, thanks to the discovery of her rare mutation, is likely going to be the exception and not the norm. And these exceptions will surface after years, not days or weeks, of research.