Huge Cohorts, Genomics, and Clinical Data to Personalize Medicine

Abstract

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, we have linked de-identified electronic health records (EHRs), to a DNA repository, called BioVU, which has nearly 250,000 samples. Through BioVU and a NHGRI-funded network using EHRs for discovery, 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 enables the inverse experiment - starting with a genotype and discovering all the phenotypes with which it is associated - a 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 era of huge international cohorts such as the UK Biobank, Million Veteran Program, and the newly started All of Us Research Program will make millions of individuals available with dense molecular and phenotypic data. All of Us launched May 6, 2018 and will engage one million diverse individuals across the US who will contribute data and also receive results back.