Genomics & Pharmacogenomics

Biography

Biography: Joe Vockley

Abstract

The Inova Translational Medicine Institute (ITMI) is a not-for-profit research institute that spent the past four years enrolling, consenting and banking samples (Blood, Saliva, Urine, Placenta) from families who gave birth at the Inova Fairfax Medical Center (IFMC). To date, over 3500 mother/father/baby family trios have enrolled in two major studies: A preterm Birth Study and an 18 year long childhood longitudinal study. Whole genome sequencing data has been generated on approximately 7000 individuals. Expression, methylation and miRNA data have been generated on the mother’s samples. We have utilized these data to generate novel ancestral genomic references to: 1) Enhance the identification of rare disease-causing variants in WGS data; 2) Perform an in silico newborn screen that is compared to results returned by the Commonwealth of Virginia; 3) Parse cancer-causing genes by ancestry; 4) Generate prediction models for preterm birth; 5) Develop a private hybrid cloud database infrastructure and tools to support research and 6) Launch a pharmacogenomics panel test that is offered free to any baby born at our hospital. ITMI has developed a novel WGS-based test, referred to as a ‘genomic physical’ that evaluates approximately 3000 pediatric and adult onset disease-causing genes as well as inherited familial cancer genes in a clinical laboratory environment to provide patients with an accurate assessment for the risk of developing genetic disease and a clinical interpretation of the WGS results. In combination, these projects and tests are helping the IFMC to integrate genomics into the healthcare of patients in the community hospital.