Abstract

Solving the Personalized Medicine Puzzle

John Quackenbush, Professor, Dana Farber Cancer Institute

Since the introduction of second-generation sequencing technologies in 2007, the cost of genome sequencing has been consistently by 33% per quarter, with the $1000 genome arriving in 2012 and the $100 genome not far off. As DNA sequencing increasingly becomes a commodity, biomedical research is rapidly evolving from a purely laboratory science to an information science in which the winners in the race to cure disease are likely to be those best able to collect, manage, analyze, and interpret data. Here I will provide an overview of the approach we have been developing to deal with the challenge of personal genomic data, including integrative approaches to data analysis and the creation of data portals focused on addressing the most common use cases presented by different user constituencies. By effectively collecting genomic and clinical data and linking information available in the public domain, we have made significant advances in uncovering the cellular networks and pathways that underlie human disease, building predictive models of those networks that may help to direct therapies, and in understanding the distinct requirements of research and medical applications.