Newswise — More than five years in development, Vanderbilt University’s DNA databank, called BioVU, is now open for business.

Late last month Vanderbilt researchers gained access to one of the largest repositories of its kind to conduct genetic studies of human disease and drug response.

“This is a resource for discovery,” said Dan Roden, M.D., Vanderbilt’s assistant vice chancellor for Personalized Medicine. “The next step is to actually use this information in the care of patients.”

Genetic variations can increase the risk of developing certain diseases. They also explain why certain medications don’t work in some patients and can cause serious, sometimes life-threatening effects in others.

Finding these associations requires sophisticated genetic studies. That’s why BioVU and the computer-driven technologies developed by Vanderbilt’s Department of Biomedical Informatics are so powerful – they combine the twin scientific revolutions in genomics and informatics.

In 2007, BioVU began extracting DNA from blood samples of adult patients at Vanderbilt that otherwise would be discarded. To date it has acquired nearly 75,000 DNA samples, linked to their matching electronic medical records.

Both the samples and the records are “de-identified,” meaning that all personal information has been stripped away to guarantee patients’ anonymity. BioVU will begin receiving samples from pediatric patients later this year, and ultimately it will contain biological samples from 250,000 individuals.

BioVU is carefully reviewed to ensure it meets ethical standards for research. The “consent-to-treat” form for Vanderbilt patients includes a box that allows them to “opt out” of the databank.

Only Vanderbilt researchers can apply as principal investigators to use BioVU, although their collaborators can be from other centers. As of late December, two research applications had been approved by Vanderbilt’s Institutional Review Board (IRB).

One of the projects, Vanderbilt Electronic Systems for Pharmacogenomic Assessment, will test whether variations in patients’ DNA could have predicted their responses to certain medications. If so, genetic information embedded in the electronic medical record could help improve treatment outcomes and avoid adverse drug effects.

Roden said the development of “personalized medicine” requires excellence in translational science and informatics. “Our leadership at the very top … (has) really been committed to this,” he said.