BioVU, Vanderbilt University Medical Center’s biobank, has reached another milestone — deep-freeze storage of more than 300,000 biological samples. Launched in 2007, BioVU is the world’s largest DNA biobank based at a single academic institution.

The samples, which are linked to patients’ de-identified electronic medical records (EMRs), have enabled hundreds of VUMC scientists and their collaborators to explore the genetic roots of disease, discover potential new treatments, and push the boundaries of personalized medicine.

BioVU has been “transformational” for VUMC and for genomic research, said the biobank’s founding director, Dan Roden, MD, professor of Medicine, Pharmacology and Biomedical Informatics and Senior Vice President for Personalized Medicine at VUMC, who holds the Sam L. Clark, MD, PhD Chair.

“It has trained a generation of data scientists,” Roden said. “It has attracted new faculty and trainees. It has allowed us to develop a national and international leadership position in personalized/precision medicine.”

BioVU also has been a key element in the expansion of VUMC’s research portfolio. More than 2,200 researchers have used the resource. It has supported nearly 240 principal investigators and 400 projects, contributed to 610 publications, and generated more than $323 million in grants from the National Institutes of Health (NIH).

The largest of these grants supports VUMC’s role as the Data and Research Center for a national research enterprise of the NIH with 1 million volunteers that aims to extend precision medicine to all diseases.

“A tangible result of the expertise that has been developed (here) is that several leaders in the national program came from VUMC,” Roden said.

In addition, BioVU “has allowed us to develop and validate novel methods that are now widely used for analysis of large genotype-phenotype datasets,” he continued. “Those include the Phenome-Wide Association Study (PheWAS), the phenotype risk score and PrediXcan.”

PrediXcan correlates genetically regulated gene expression with phenotypes–traits and diseases included in the EMR. Such correlations can lead to new insights and treatments for diseases as diverse as diabetes and depression.

Administratively part of the Vanderbilt Institute for Clinical and Translational Research (VICTR), BioVU has facilitated VUMC’s involvement in other national research collaborations including the eMERGE network, which combines DNA biorepositories with EMR systems to conduct large-scale, high-throughput genetic research.

Roden credited VUMC leadership, including VUMC President and CEO Jeff Balser, MD, PhD, Gordon Bernard, MD, VICTR director and VUMC Executive Vice President for Research, and Jennifer Pietenpol, PhD, VUMC Chief Scientific and Strategy Officer, for their strong support of BioVU.

Dozens of people at VUMC helped create this resource, and have managed its growth and investigator access, he added.

While most research involving BioVU has examined the effects of common genetic variants, alone and in combination, “it’s becoming clear that the next big step is sequencing,” Roden said. “That will allow us to look at rarer variants, which often have large effects.”

In addition, “BioVU is well on the way to moving to a cloud environment, which will allow easier and, importantly, more secure access to the enormous datasets that sequencing is generating,” he said. “I’m looking forward to a whole new chapter in methods development and discovery.”