Department of Biostatistics Seminar/Workshop Series

Getting the Most out of BioVU

Erica Bowton, PhD,

Health Information Systems Program Manager, Vanderbilt Institute of Clinical and Translational Research (VICTR), Vanderbilt University School of Medicine

BioVU is a large scale resource linking DNA samples, genetic data, and de-identified clinical data. The resource is EMR-derived, robust, and unbiased, enabling real-world disease neutral phenotypes to be derived electronically in a highly cost-efficient manner. Highly dense de-identified clinical records with longitudinal data are continually updated as new information accumulates over the course of patient care. BioVU operates using an "opt out" model, based on an opinion from the federal Office of Human Research Protection (OHRP) that discarded samples can be used for biomedical research without prospective consenting of each individual if the clinical data are de-identified. BioVU uses blood samples that are to be discarded, establishes eligibility, re-labels eligible samples with a 128-digit code derived from the medical record number, and extracts DNA. Biomedical informatics expertise at Vanderbilt was leveraged to create a “mirror image" of the EMR, which includes over 2 million individual patients with all clinical information available in a searchable form since the mid-1990's. This mirror image, which is called the "Synthetic Derivative", has been scrubbed of HIPAA identifiers. The records in the synthetic derivative are labeled with the same 128-digit identifier as the DNA samples, thus maintaining the link between the clinical data and DNA. Sample collection began in February 2007, with over 175,000 adult and pediatric samples banked as of October 2014, and 500-1000 samples accrued each week making BioVU one of the largest repositories of its kind in the country. This wealth of longitudinal, real-world clinical data is superior to a ‘snapshot in time’ for defining phenotype cohorts and discovering new associations, and will support the long-term goal of establishing methods to seamlessly integrate contemporary genomic information into the fabric of modern medicine. The implementation of the BioVU project positions Vanderbilt as a leader in this arena.
Topic revision: r1 - 14 Feb 2014, NanaKwarteng

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