Carere Deanna Alexis, VanderWeele Tyler J, Vassy Jason L, van der Wouden Cathelijne H, Roberts J Scott, Kraft Peter, Green Robert C
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.
Genet Med. 2017 May;19(5):537-545. doi: 10.1038/gim.2016.141. Epub 2016 Sep 22.
To measure the frequency of prescription medication changes following direct-to-consumer personal genomic testing (DTC-PGT) and their association with the pharmacogenomic results received.
New DTC-PGT customers were enrolled in 2012 and completed surveys prior to the return of results and 6 months after results; DTC-PGT results were linked to survey data. "Atypical response" pharmacogenomic results were defined as those indicating an increase or decrease in risk of an adverse drug event or likelihood of therapeutic benefit. At follow-up, participants reported prescription medication changes and health-care provider consultation.
Follow-up data were available from 961 participants, of whom 54 (5.6%) reported changing a medication they were taking or starting a new medication due to their DTC-PGT results. Of these, 45 (83.3%) reported consulting with a health-care provider regarding the change. Pharmacogenomic results were available for 961 participants, of which 875 (91.2%) received one or more atypical response results. For each such result received, the odds of reporting a prescription medication change increased 1.57 times (95% confidence interval = 1.17, 2.11).
Receipt of pharmacogenomic results indicating an atypical drug response is common with DTC-PGT and is associated with prescription medication changes; however, fewer than 1% of consumers report unsupervised changes at 6 months after testing.Genet Med advance online publication 22 September 2016.
测量直接面向消费者的个人基因组检测（DTC - PGT）后处方药变更的频率及其与所获得的药物基因组学结果的关联。
2012年招募了新的DTC - PGT客户，在结果返回之前和结果返回6个月后完成调查；DTC - PGT结果与调查数据相关联。“非典型反应”药物基因组学结果被定义为那些表明药物不良事件风险增加或降低或治疗获益可能性的结果。在随访中，参与者报告了处方药的变更和与医疗保健提供者的咨询情况。
有961名参与者的随访数据可用，其中54名（5.6%）报告因DTC - PGT结果而改变了正在服用的药物或开始服用新药。在这些人中，45名（83.3%）报告就该变更咨询了医疗保健提供者。有961名参与者获得了药物基因组学结果，其中875名（91.2%）收到了一个或多个非典型反应结果。对于每一个这样的结果，报告处方药变更的几率增加了1.57倍（95%置信区间 = 1.17，2.11）。
DTC - PGT中收到表明非典型药物反应的药物基因组学结果很常见，并且与处方药变更相关；然而，不到1%的消费者在检测后6个月报告了未经监督的变更。《基因医学》2016年9月22日在线优先发表。
