Biomedical Informatics and Precision Medicine are Laying the Framework for the Next Generation of Discovery

Synopsis: It is an opportune time to be engaged in the research and application of informatics in biomedicine.  The increased use of electronic and personal health records and personal mobile devices is creating many opportunities at research academic medical centers.  At the University of Washington, we are laying the ground work to build the informatics and information technology infrastructure to support research on personalized approaches, and we are beginning to see the early successes of these efforts. There are many challenges, for example, whole exome and whole genome sequencing is continuing to challenge researchers with a wealth of genetic variants of unknown disease effects.  The genetic causes of penetrance and phenotypic expressivity often have no known molecular basis. In this presentation, I will discuss our support of data for research use within UW Medicine, our efforts to build new machine learning and data science approaches using clinical datasets, and our efforts to develop new methods to interpret human genome sequences.  Further, we are leveraging the crowd by organizing and participating in community challenges (critical assessments) to build a better understanding of the types of approaches that perform well in genome interpretation and in what context.  I will describe the newly founded Center for Data To Health (CD2H) and how we are facilitating informatics throughout the CTSA program nationally and how CTSA hubs can further engage the CD2H center.