Department of Pediatrics, Vanderbilt University and the Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, Tennessee, USA.
Department of Biostatistics, Vanderbilt University, Nashville, Tennessee, USA.
Clin Pharmacol Ther. 2014 Apr;95(4):423-31. doi: 10.1038/clpt.2013.229. Epub 2013 Nov 19.
Since September 2010, more than 10,000 patients have undergone preemptive, panel-based pharmacogenomic testing through the Vanderbilt Pharmacogenomic Resource for Enhanced Decisions in Care and Treatment program. Analysis of the genetic data from the first 9,589 individuals reveals that the frequency of genetic variants is concordant with published allele frequencies. Based on five currently implemented drug-gene 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 with our preemptive, multiplexed genotyping approach. Reactive genotyping would have generated 14,656 genetic tests. These data highlight three advantages of preemptive genotyping: (i) the vast majority of patients carry at least one pharmacogenetic variant; (ii) data are available at the point of care; and (iii) there is a substantial reduction in testing burden compared with a reactive strategy.
自 2010 年 9 月以来，已有超过 10000 名患者通过范德比尔特医疗照顾和治疗计划中的基于小组的药物基因组学预先测试进行了药物基因组学检测。对前 9589 个人的基因数据进行分析表明，遗传变异的频率与已发表的等位基因频率一致。基于目前实施的五个药物-基因相互作用，该多重检测在 91%的基因分型患者和 96%的非裔美国患者中确定了一个或多个可操作的变异。使用电子病历中的药物暴露数据，我们将理论上的“反应性”、处方触发的、串行单基因测试策略与我们的主动、多重基因分型方法进行了比较。反应性基因分型将产生 14656 项基因检测。这些数据突出了主动基因分型的三个优势：（i）绝大多数患者至少携带一种药物遗传学变异；（ii）数据可在护理点获得；（iii）与反应性策略相比，检测负担大大减轻。
