Toward precision medicine: a new social contract?

earlier this year, illumina inc. and life technologies inc. each announced new products that can sequence a genome for $1,000 in a single day (1); approximately 3 million times cheaper than the cost during the Human Genome Project back in the early part of the last decade. Furthermore, cloud-based, big-data software companies are capable of using whole-and partial-genome sequencing to automate and operationalize diagnostics in real-life situations with patients. But no one believes that less expensive data and more analyses are in themselves enough to accelerate the path to disease cures. In fact, science writer Nicholas Wade asserted in the 12 June 2010 issue of the New York Times that, a decade after completion of the first draft of the human genome sequence, too little clinical benefit has been realized (2). Many have subsequently defended the human genome project's benefits; but it remains reasonable to ask why, given the explosion of scientific knowledge in the last decade, haven't we seen greater gains in health outcomes? A new National Research Council report (3) from the U.S. National Academies (http:// www.nas.edu/nrc) attempts to address this question. The report calls for a new data network that integrates emerging research on the molecular makeup of diseases with clinical data from individual patients to drive the development of a more accurate classification, or taxonomy, of disease that ultimately enhances diagnosis and treatment. The new tax-onomy of disease integrates multiparameter molecular data with clinical data (including the traditional physical signs and symptoms), environmental data, and health outcomes in an iterative fashion. The ultimate goal is the devising of a kind of " Google map for health " that would be both dynamic and flexible. The committee coined the term " precision medicine " to refer to how the new taxonomy could allow for the tailoring of medical treatments to the individual characteristics of each patient, using " precision " in the colloquial sense to mean both " accurate " and " precise. " Imagine a world in which the vision outlined in the National Research Council report became a reality. The new data network could improve biomedical research by enabling scientists to access patients' information during treatments while still protecting the pa-tients' rights. This ability would allow the marriage of molecular research and clinical data at the point of care, as opposed to research information continuing to reside primarily in research labs or publications. Data would …