Use of Clinical Big Data to Inform Precision Medicine Webinar

by Jon Goodell

National Library of Medicine Informatics Lecture Series
Title: Use of Clinical Big Data to Inform Precision Medicine
Speaker: Joshua Denny, MD

Date: Wednesday, November 4, 2015
Time: 1:00 pm – 2:00 pm Central Time
Location: Lister Hill Center Auditorium and online

This talk will be broadcast live and archived at http://videocast.nih.gov/

Precision medicine offers the promise of improved diagnosis and more effective, patient-specific therapies.  Typically, clinical research studies have been pursued by enrolling a cohort of willing participants in a town or region, and obtaining information and tissue samples from them.  At Vanderbilt, Dr. Denny and his team have linked phenotypic information from de-identified electronic health records (EHRs) to a DNA repository of nearly 200,000 samples, creating a ‘virtual’ cohort.  This approach allows study of genomic basis of disease and drug response using real-world clinical data. Finding the right information in the EHR can be challenging, but the combination of billing data, laboratory data, medication exposures, and natural language processing has enabled efficient study of genomic and pharmacogenomic phenotypes.  The Vanderbilt research team has put many of these discovered pharmacogenomic characteristics into practice through clinical decision support.  The EHR also enables the inverse experiment – starting with a genotype and discovering all the phenotypes with which it is associated – a phenome-wide association study (PheWAS).  PheWAS requires a densely-phenotyped population such as found in the EHR. Dr. Denny’s research team has used PheWAS to replicate more than 300 genotype-phenotype associations, characterize pleiotropy, and discover new associations.  They have also used PheWAS to identify characteristics within disease subtypes.

Brief Bio: Joshua Denny, MD is an Associate Professor in the Departments of Biomedical Informatics and Medicine at Vanderbilt University Medical Center. A primary interest of his lab has been development of the PheWAS method applied to EHRs to rapidly uncover genetic pleiotropy and highlight potential drivers of genetic associations with endophenotypes.  He helps lead efforts for local and network pharmacogenetics implementation activities.  He is part of the NIH-supported Electronic Medical Records and Genomics (eMERGE) network, Pharmacogenomics Research Network (PGRN), and Implementing Genomics in Practice (IGNITE) networks. He is past recipient of the American Medical Informatics Association New Investigator Award, Homer Warner Award, and Vanderbilt Chancellor’s Award for Research. Dr. Denny remains active in clinical care and in teaching students. He is also a member of the National Library of Medicine Biomedical Library and Informatics Review Committee.

Sign Language Interpreters will be provided. Individuals with disabilities who need reasonable accommodation to participate in this lecture should contact Ebony Hughes 301-451-8038 Ebony.Hughes@nih.gov or the Federal Relay (1-800-877-8339).