OECD-NSF WORKSHOP BUILDING A SMARTER HEALTH AND WELLNESS FUTURE National Science Foundation, Washington, D.C., USA 15-16 February 2011

SESSION 1: "SMART" HEALTH & WELLNESS: THE EMERGING MODELS IT essentials for a personalized genomic era

Peter TONELLATO Director

Bioinformatics Essentials for a Personalized Genomic Medicine Era

Essential to a future of preventive and predictive medicine is the integration of whole genome technologies into clinical and health practice. To this purpose, The Department of , Beth Israel Deaconess Medical Center has joined with the Center for Biomedical Informatics, Harvard to work with a consortium of stake holders from health care, government and private industry to test the use of in genome-era medicine. Much like that created in biomedical science, whole genome sequencing, expression profiles and other high-throughput technologies will create a post-genome paradigm shift in health, prevention, and . However, this paradigm shift will not take place until the technologies and processes are re- engineered from use in the research setting into use in the best-practice care delivery setting. Our efforts include bioinformatics tools, methods and analysis to process and integrate personal genomes into the EHR, redefining regulatory management of whole genome sequencing in the clinical laboratory, reimbursement, and creating a robust clinical business model for post-genome pathology practice. These and parallel efforts though difficult, disruptive and time consuming will catalyze the adoption and widespread implementation of the post-genome competency required to fully capture the value of whole genome information and thereby position the discipline of pathology to lead rather than follow in the coming era of personalized medicine.