DNA Databank Provides Access on One of the Larges Genetic Repositories

U.S. researchers have gained access to one of the largest repositories of its kind to conduct genetic studies of human disease and drug response.

More than five years in development, Vanderbilt University's (Nashville, TN, USA) DNA databank, called BioVU, is now open for business. "This is a resource for discovery,” said Dan Roden, 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 clarify why certain medications do not work in some patients and can cause serious, sometimes life-threatening effects in others. Finding these associations requires advanced genetic studies. That is 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 ensure patients' anonymity. BioVU will begin receiving samples from pediatric patients later this year, and ultimately it will contain biologic 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 2009, 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 specific medications. If so, genetic information embedded in the electronic medical record could help improve treatment outcomes and avoid adverse drug effects.

Dr. Roden stated that 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.

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