University of Florida Health Personalized Medicine Program, Gainesville, Florida, USA.
University of Florida College of Pharmacy Center for Pharmacogenomics, Gainesville, Florida, USA.
Clin Transl Sci. 2018 Mar;11(2):175-181. doi: 10.1111/cts.12533. Epub 2018 Jan 19.
Although thiopurine S-methyltransferase (TPMT) genotyping to guide thiopurine dosing is common in the pediatric cancer population, limited data exist on TPMT testing implementation in diverse, multidisciplinary settings. We established TPMT testing (genotype and enzyme) with clinical decision support, provider/patient education, and pharmacist consultations in a tertiary medical center and collected data over 3 years. During this time, 834 patients underwent 873 TPMT tests (147 (17%) genotype, 726 (83%) enzyme). TPMT tests were most commonly ordered for gastroenterology, rheumatology, dermatology, and hematology/oncology patients (661 of 834 patients (79.2%); 580 outpatient vs. 293 inpatient; P < 0.0001). Thirty-nine patients had both genotype and enzyme tests (n = 2 discordant results). We observed significant differences between TPMT test use and characteristics in a diverse, multispecialty environment vs. a pediatric cancer setting, which led to unique implementation needs. As pharmacogenetic implementations expand, disseminating lessons learned in diverse, real-world environments will be important to support routine adoption.
尽管硫嘌呤 S-甲基转移酶 (TPMT) 基因分型指导硫嘌呤剂量在儿科癌症患者中很常见，但在多学科、多样化环境中进行 TPMT 检测的实施数据有限。我们在一家三级医疗中心建立了 TPMT 检测（基因型和酶），并提供临床决策支持、医护人员/患者教育和药剂师咨询服务，在 3 年时间内收集了相关数据。在此期间，834 名患者接受了 873 次 TPMT 检测（147 次为基因型检测，726 次为酶检测）。TPMT 检测最常用于胃肠病学、风湿病学、皮肤病学和血液学/肿瘤学患者（834 名患者中的 661 名[79.2%]；580 名门诊患者 vs. 293 名住院患者；P<0.0001）。39 名患者同时进行了基因型和酶检测（n=2 次检测结果不一致）。我们观察到在多样化的多专科环境与儿科癌症环境中 TPMT 检测的使用和特征存在显著差异，这导致了独特的实施需求。随着药物遗传学的实施不断扩大，在多样化的实际环境中传播经验教训对于支持常规应用将非常重要。
