Dr. Denny focuses on the use of electronic health record (EHR) data for clinical, genomic, and pharmacogenomic research. Leveraging different informatics approaches to mine the EHR, lab members have created different approaches to use EHRs to identify diseases and traits to discover novel genome-phenome associations by linking EHR data to biorepositories. These discoveries can lead to new insights in biology or how to better tailor treatment to disease given one’s genetics. One innovation in discovery has been the development of phenome-wide association studies (PheWAS), which searches for phenotypes that may be associated with a given genetic variant. PheWAS has been used to discover pleiotropy (one gene effecting different phenotypes), validating known signals, and repurpose medications. Dr. Denny is a principal investigator in the Electronic Medical Record and Genomics (eMERGE), Pharmacogenomics Research Network (PGRN), and the Implementing Genomics into Practice (IGNITE) network. He was also the contact PI for the Data and Research Center of the Precision Medicine Initiative All of Us Research Program, which will collect comprehensive data from a diverse cohort of more than 1 million individuals in an effort to understand the genetic, environmental, and behavioral factors that influence human health and disease. This project will leverage EHR data, mobile devices, traditional health surveys, biospecimens, and the ability to recontact individuals to create a platform to accelerate discovery accessible to many researchers. In 2020, Dr. Denny moved to the NIH to become CEO of the All of Us Research program. He also has a research lab within the National Human Genome Research Institute.
Joshua C. Denny, MD, MS