Clinically actionable genotypes among 10,000 patients with preemptive pharmacogenomic testing.

Van Driest SL, Shi Y, Bowton EA, Schildcrout JS, Peterson JF, Pulley J, Denny JC, Roden DM.

Source

Department of Pediatrics, Vanderbilt University and the Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN.

Abstract

Since September 2010, over 10,000 patients have undergone preemptive, panel-based pharmacogenomic testing through the Vanderbilt Pharmacogenomic Resource for Enhanced Decisions in Care and Treatment (PREDICT) program. Analysis of the genetic data from the first 9,589 individuals reveals the frequency of genetic variants is concordant with published allele frequencies. Based on five currently implemented drug-genome interactions, the multiplexed test identified one or more actionable variants in 91% of the genotyped patients and in 96% of African-American patients. Using medication exposure data from electronic medical records, we compared a theoretical "reactive," prescription-triggered, serial single-gene testing strategy to our preemptive, multiplexed genotyping approach. Reactive genotyping would have generated 14,656 genetic tests. These data highlight three advantages of preemptive genotyping: 1)the vast majority of patients carry at least one pharmacogene variant; 2)data are available at the point of care; and 3)there is a substantial reduction in testing burden compared to a reactive strategy.Clinical Pharmacology & Therapeutics (2013); accepted article preview online 19 November 2013 doi:10.1038/clpt.2013.229.