Diagnostics for personalized medicine: what will change in the era of large-scale genomics studies?

Abstract

The era of personalized medicine is upon us and it is being fueled by large available data sets of many types that are setting the foundation for the development of more precise diagnostic tools and targeted therapies, which are improving patient outcomes. Technology innovation and concomitant price decreases in molecular scanning technologies are at the heart of this change, both accelerating at a rate that has exceeded Moore’s law. This technology trend is enabling the research community to generate, and make publicly available, massive amounts of genomic data. These data come in the form not only of contextual information about the structure and function of the genome, but also in the form of variants that are correlated with human disease. Coupled with this molecular information, we are making dramatic inroads into capturing and making available high-resolution phenotypic and environmental exposure data through both incentives to physicians to migrate electronic medical records and to adoption of consumer-facing data collection and aggregation technologies. These large-scale genomic, environmental and phenotypic data together allow us to provide a multitude of new diagnostic correlations across the spectrum of possible clinical indications. To fully leverage the data foundation that will lead us to precise diagnostics and truly move the needle in outcome improvement, we need to achieve a culture shift as to how to apply this new personalized and probabilistic diagnostic information to better practice the art of medicine.