Only connect: personal genomics and the future of American medicine

Abstract

Access to one's own complete genome was unheard of just a few years ago. At present we have a smattering of identifiable complete human genomes, but the coming months and years will undoubtedly bring thousands more. What will this mean for the practice of medicine in the US? No one knows, but given the remarkable drop in the cost of DNA sequencing over the last few years, it seems a safe bet that within the next decade, primary care physicians will order patients' whole genome sequences with no more fanfare than they would a complete blood count. But the challenges of transforming that easily accessible information into cost savings and better health outcomes will be daunting. Obviously, we lack interpretive abilities and phenotypic information commensurate with our skill in amassing DNA sequences. Worse, we have exacerbated these problems by failing to embrace the increasing ubiquity of genomic information, the populace's interest in it, and its relevance to virtually every medical specialty. The success of personal genomics will require a profound cultural shift by every entity with a stake in human health.