Josh F. Peterson
Vanderbilt University Medical Center

Clinical Applications of Genomic Medicine: The State of the Art

 The field of genomic medicine has been transformed by dramatic reductions in the cost and ease of obtaining clinical-grade genotyping or sequencing data.  Interest in implementing pharmacogenomics to tailor medical therapies, sequencing to screen for Mendelian traits, and application of polygenic risk scores to predict incident chronic diseases has surged.   What has lagged the advances in the laboratory is the technical ability to broadly and repeatedly access stored genomic data for patient care, and to deliver evidence based and patient context sensitive recommendations for treatment or further screening once genetic risks are identified.  This talk will review the progress that is being made in translating newer applications in germline genomic medicine to routine patient care.  We will discuss the landscape of NIH-funded projects pioneering large scale genetic population screening and implementation, and review the remaining challenges to making these technologies accessible to all.

Josh Peterson, MD, MPH is Associate Professor with appointments in the Departments of Biomedical Informatics and Medicine at Vanderbilt University Medical Center (VUMC), and an internist with an active primary care practice. Dr. Peterson’s research interests are in precision medicine with a focus on translating genomic technologies to routine clinical care. Over his 20-year career in clinical informatics, he has led the design and implementation of clinical decision support systems to improve drug safety. Currently, he leads implementation of one of the largest pharmacogenomics implementations in the US – PREDICT. He serves as a principle investigator for an NIH funded project to simulate the clinical impact and cost-effectiveness of sequencing large populations over their lifetime. He also leads two NIH-sponsored genomic medicine consortia: eMERGE (Electronic Medical Records and Genomics) where he is principle investigator of the Coordinating Center and co-Chair of the Outcomes Workgroup and IGNITE 2 where he serves as principle investigator for the VUMC site.