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Study Supports Role of EMRs in Clinical Genetic Research

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – Vanderbilt University researchers have used analysis of electronic medical records (EMRs), data in a large-scale DNA database, and genomic information to detect genetic variants for five diseases — findings which they say support the use of EMRs in both genetic medicine and research.

The researchers used EMRs and information from Vanderbilt's BioVu DNA databank and biorepository coupled with genomic technologies to identify common genetic variants for five diseases. The results of their study are published in the April issue of The American Journal of Human Genetics.

The Vanderbilt-led team used technologies from Sequenom and Life Technologies' Applied Biosystems business to conduct genotyping and analysis and to identify common genetic variants in phenotypes for Crohn's disease, multiple sclerosis, arthritis, type 2 diabetes, and atrial fibrillation. The aim was to use these tools to replicate associations that are already known between certain SNPs and this set of diseases.

"The deployment of EMRs offers the hope of improving routine care, not only by enhancing individual practitioner access to patient information but also by aggregating information for clinical research," Vanderbilt researcher Dan Roden, senior author of the study, said in a statement. "EMRs contain large populations with diverse diseases and have the potential to act as platforms for rapid and inexpensive creation of large inclusive patient sets."

The effort took four months to generate a set of nearly 10,000 records, from which cases and controls were identified. For each of the five diseases under study, at least one previously reported genetic association was replicated, the researchers said.

The genotyping for the project was conducted by the Vanderbilt DNA resource core using the mid-throughput Sequenom genotyping platform coupled with mass spectrometry. Some of the SNPs were regenerated using Applied Biosystems' TaqMan assays and Prism 7900HT Sequence Detection System.

"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," Roden said in the statement.

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