Institute for Genome Sciences & Policy, Duke University, 304 Research Drive, Durham, NC 27708, USA.
Clin Genet. 2012 Aug;82(2):115-20. doi: 10.1111/j.1399-0004.2012.01848.x. Epub 2012 Feb 19.
Pharmacogenetic (PGx) testing aims to improve therapeutic outcomes through tailoring treatment based on a patient's genetic risk for non-response and/or an adverse event. Given their expertise, geneticists could facilitate the use of PGx testing; however, the preparedness and perceived role of the clinical genetics community is unclear. To assess the attitudes, preparedness, and perceived roles of geneticists in the delivery of PGx testing, we conducted a survey of 1500 randomly selected board-certified genetic counselors and clinical geneticists in the United States [response rate: 37.8% (n = 516)]. Twelve percent of genetic counselors and 41% of clinical geneticists indicated that they had ordered or coordinated patient care for PGx testing, a seemingly high proportion at this early stage of adoption. Almost all respondents had some education on pharmacogenetics, although only 28% of counselors and 58% of clinical geneticists indicated they felt well-informed about PGx testing. About half of counselors (52%) and clinical geneticists (46%) felt they would play 'some' role in the delivery of PGx testing; 17 and 19%, respectively, felt that they would play 'no' or 'a little' role. At this early stage of PGx testing, the role of geneticists and genetic counselors is unclear. However, their experience may aid in readying PGx testing and informing delivery strategies into clinical practice.
药物遗传学(PGx)测试旨在通过根据患者对无反应和/或不良反应的遗传风险来调整治疗,从而改善治疗效果。鉴于遗传学家的专业知识,他们可以促进 PGx 测试的使用;然而,临床遗传学界的准备情况和预期角色尚不清楚。为了评估遗传学家在提供 PGx 测试方面的态度、准备情况和预期角色,我们对美国随机选择的 1500 名经董事会认证的遗传咨询师和临床遗传学家进行了调查[回复率:37.8%(n = 516)]。12%的遗传咨询师和 41%的临床遗传学家表示,他们已经为 PGx 测试开单或协调患者护理,在采用的早期阶段,这一比例似乎很高。几乎所有的受访者都接受过药物遗传学方面的教育,尽管只有 28%的咨询师和 58%的临床遗传学家表示他们对 PGx 测试有充分的了解。大约一半的咨询师(52%)和临床遗传学家(46%)认为他们将在 PGx 测试的提供中发挥“一定”的作用;分别有 17%和 19%的人认为他们将发挥“没有”或“一点”的作用。在 PGx 测试的早期阶段,遗传学家和遗传咨询师的角色尚不清楚。然而,他们的经验可能有助于为 PGx 测试做好准备,并将信息传递策略纳入临床实践。