Precision Medicine

BIME faculty are involved in key informatics service and practice roles in support of UW Medicine precision medicine efforts both in terms of the discovery and the generation of new clinical genomic knowledge as well as implementing precision medicine in the clinical context. Translational bioinformatics and clinical informatics operational expertise is critical to achieving these roles. In addition to a number of precision medicine related research projects (see Research). One of these projects (the Precision Medicine Informatics Group) includes both research and operational work. The faculty of the Precision Medicine Informatics group are active in the clinical sequencing and exploratory research initiative (CSER) and eMERGE networks.

The locus of the faculty informatics service work in support of precision medicine currently is the UW Medicine Center for Precision Diagnostics (CPDx). The Center is a state of the art CLIA Certified and CAP Accredited clinical genetic testing program. At CPDx we work with clinicians, families and researchers to provide accurate results with a rapid turnaround time and superior customer service. In addition to clinical testing, we offer consultation to scientists on the application of these technologies that in turn translates into robust research opportunities and improved patient care. Overall the Center activities are to: a) Transform cutting-edge technologies into clinical applications, b) Integrate fully into healthcare delivery, c) Educate the next generation of UW Medicine-trained physicians and scientists who will need to be fluent in these transformative technologies, and d) Inform local, state, national, and international audiences on the fundamental role of advanced diagnostics in precision medicine. Computational and analytical bioinformatics are key components in exome and genome sequence analysis and are conducted within the genomic analysis core. Biomedical informatics, particularly the translation of reports of the outcomes of sequence analysis into electronic records, is an essential activity in the dissemination of data from the Center for Precision Diagnostics. The creation of pathways and structures for these data is a major element of work being done in the Department of Biomedical Informatics and Medical Education and some of the faculty in that department are part of the Center and work with its members to facilitate the flow of data in searchable formats to all electronic medical records. Additional faculty are being hired in BIME to work in this area.