Mapping genetics to the medical phenome: Case studies from Vanderbilt 

The genetic insights already gained from the human data revolution are only the opening chapter. The advent of large-scale longitudinal data promises to take the story in new directions by offering opportunities to ask different types of questions. Among the benefits will be ability to treat diseases earlier, at their root.

Vanderbilt University Medical Center has built a biobank that may be among biotech’s most undercelebrated resources. At about 330,000 participants, it is approaching the scale of the UK Biobank’s 500,000. Moreover, the university’s 30-plus years of electronic health records (EHR) provide researchers with a powerful platform for connecting the dots between genotypes and phenotypes. Many health systems did not convert medical charts to a digital format until 2014, the deadline for receiving incentives under the Health Information Technology for Economic and Clinical Health Act (HITECH Act)...