Vanderbilt Opens Center for Digital Genomic Medicine

Vanderbilt University Medical Center has established a Center for Digital Genomic Medicine.

By integrating clinical, genomic and digital device data, and by developing novel methodologies and infrastructure, the center aims to generate the evidence needed to improve patient outcomes and support clinical decision making.

Douglas Ruderfer, Ph.D., whose research at VUMc explores the intersection of genomics, biomedical informatics and psychiatry, has been named director of the new center.

“For many rare outcomes or conditions, there often is a striking lack of data needed for making evidence-based clinical decisions,” said Ruderfer, in a statement. He is associate professor of Medicine in the Division of Genetic Medicine, and associate professor of Biomedical Informatics, and Psychiatry and Behavioral Sciences.

Incomplete understanding of how many rare genetic diseases present during routine clinical care results in long delays in testing and diagnosis, Ruderfer added. By using electronic health record data and curating clinical features associated with genetic diseases, the center aims to identify these patients earlier.

Researchers in the center are building infrastructure and collecting objective measures of behavior (such as physical activity and sleep) from digital devices worn by patients. They are developing methods to best integrate that information with clinical and genetic data. The goal is to better understand the impact of behavior on risk for disease and medical outcomes.

Examples of a few scientific questions that could be addressed with this type of infrastructure:
• Understanding the causal impact of behavior (such as changes in activity or sleep) on clinical outcomes and medical utilization. 
• Targeted recruitment and provision of specific devices for patients with risk of disease, such as Fitbits for patients with high risk of atrial fibrillation, or glucose monitors for those at risk for type 2 diabetes. 
• Randomized clinical trials (RCT) to test the value of automated identification of functional drift (i.e. a digital prodrome) that may herald an impending admission for conditions like heart failure.  
• RCT for value of monitoring patients after serious medical event or intervention, such as recovery from MI, transplant, or discharge from ICU.

“While our initial focus will be on the genetic disease, we believe these methods may extend beyond diseases of a genetic etiology,” Ruderfer said.

By building an institutional resource around collecting, organizing, and providing data to VUMC users, the center hopes to enable advances in translating digital health data into clinical utility.