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Tuesday, October 15 • 2:15pm - 3:00pm
Huge Cohorts, Genomics, and Clinical Data to Personalize Medicine

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Precision medicine offers the promise of improved diagnosis and for more effective, patient-specific therapies. Typically, such studies have been pursued using research cohorts. At Vanderbilt and in the Electronic Medical Records and Genomics (eMERGE) Network, we have used clinical data of genomic basis of disease and drug response using real-world clinical data. The EHR also gave birth to “reverse genetics” experiment – starting with a genotype and discovering all the phenotypes with which it is associated – via the phenome-wide association study. By looking for clusters of diseases and symptoms through phenotype risk scores, we find unrecognized genetic variants associated with common disease. The foundation of clinical data combined with participant-collected data has become a platform for a new era of huge cohorts such as the UK Biobank, Million Veteran Program, and the All of Us Research Program. All of Us launched May 6, 2018 and currently has nearly 200,000 participants who have contributed biospecimens, health surveys, and a willingness to share their EHR. Participants in All of Us will also have the options of receiving research results back.

avatar for Joshua C. Denny

Joshua C. Denny

M.D., M.S., F.A.C.M.I. Professor of Biomedical Informatics and Medicine Director, Center for Precision Medicine, Vice President for Personalized Medicine Vanderbilt University Medical Center Department of Biomedical Informatics, Vanderbilt University Medical Center
Josh Denny is a Professor of Biomedical Informatics and Medicine, Director of the Center for Precision Medicine, and Vice President for Personalized Medicine. His research interests include natural language processing, accurate phenotype identification from electronic medical record... Read More →

Tuesday October 15, 2019 2:15pm - 3:00pm CDT
BRC 103

Attendees (5)