PheWAS

MEDI (MEDication Indication) is an ensemble medication indication resource for primary and secondary uses of electronic medical record (EMR) data.  MEDI was created based on multiple commonly used medication resources (RxNorm, MedlinePlus, SIDER 2, and Wikipedia ) and by leveraging both ontology and natural language processing (NLP) techniques. 

Current methods to identify gene-disease associations primarily rely on clinical trials or observational cohorts to identify patients.  At Vanderbilt, we have used an EMR-linked DNA biobank called BioVU to derive case and controls populations using data within the EMR to define clinical phenotypes.  Genetic data for these EMR-linked association studies are redeposited into BioVU for future EMR-linked studies.  This has opened the possibility of "reverse GWAS" or "Phenome-wide association studies" (PheWAS).