The researchers used BioVU, the Vanderbilt DNA databank, to detect known common genetic variants associated with five diseases: atrial fibrillation, Crohn's disease, multiple sclerosis, rheumatoid arthritis and type 2 diabetes. It took only four months to generate a set of nearly 10,000 records from which the cases and controls were identified. Although the process of accessing and defining the samples was technically complex, for each of the five phenotypes, at least one previously reported genetic association was replicated.

These results support the use DNA resources coupled to EMR systems as a valuable tool for clinical research. "Our data demonstrate that phenotypes representing clinical diagnoses can be extracted from EMR systems, and support the use of DNA resources coupled to EMR systems as tools for rapid generation of large datasets required for replication of associations found in research and for discovery in genome science," concludes Dr. Roden.

Source: Cell Press