(p. 77) In December 2010 in Milwaukee, Wisconsin, Nicholas Volker, a five-year-old boy with a gastrointestinal condition that had not previously been seen, who had undergone over a hundred surgical operations and was almost constantly hospitalized and intermittently septic, was virtually on death’s door. But when his DNA sequence was determined, his doctors found the culprit mutation. That discovery led to the proper treatment, and now Nicholas is healthy and thriving. Even though this was only the first clearly documented case of the life-saving power of human genomics in medicine, (p. 78) few could now deny that the field was going to have a vital role in the future of medicine. Some would argue that the treatment led to an even bigger breakthrough: health insurance coverage of sequencing costs for select cases.
It took the better part of a decade from the completion of the first draft of the Human Genome Project for genomics to reach the clinic in such a dramatic way. To make treatment like Volker’s common will likely take more time still. Even if that’s the ultimate prize, the creative destruction of medicine still has various other, less comprehensive, genomic tools for us to use, based on investigations of things like single-nucleotide polymorphisms, the exome, and more. The material can be a bit heady, but it’s worth pushing through: these tools could effect not just dramatic corrections of faulty genes but a better, more scientific understanding of disease susceptibility and what drugs to take. Moreover, as they empower patients and democratize medicine, they make medical knowledge available to all and deep knowledge of ourselves available to each of us. Nevertheless, at this level, perhaps more than anywhere else in this ongoing medical revolution, the resistance from the priesthood of medicine is at its height. The fight might be tougher than the material, but in neither case can we afford to give up.
Topol, Eric. The Creative Destruction of Medicine: How the Digital Revolution Will Create Better Health Care. New York: Basic Books, 2012.