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临床实践中的药物遗传学:评估围手术期和门诊环境中药物遗传学检测的临床可操作性。

Pharmacogenetics in Practice: Estimating the Clinical Actionability of Pharmacogenetic Testing in Perioperative and Ambulatory Settings.

机构信息

MedStar Health, Columbia, Maryland, USA.

Georgetown University Medical Center, Washington, DC, USA.

出版信息

Clin Transl Sci. 2020 May;13(3):618-627. doi: 10.1111/cts.12748. Epub 2020 Feb 12.

Abstract

Most literature describing pharmacogenetic implementations are within academic medical centers and use single-gene tests. Our objective was to describe the results and lessons learned from a multisite pharmacogenetic pilot that utilized panel-based testing in academic and nonacademic settings. This was a retrospective analysis of 667 patients from a pilot in 4 perioperative and 5 outpatient cardiology clinics. Recommendations related to 12 genes and 65 drugs were classified as actionable or not actionable. They were ascertained from Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines and US Food and Drug Administration (FDA) labeling. Patients displayed a high prevalence of actionable results (88%, 99%) and use of medications (28%, 46%) with FDA or CPIC recommendations, respectively. Sixteen percent of patients had an actionable result for a current medication per CPIC compared with 5% per FDA labeling. A systematic approach by a health system may be beneficial given the quantity and diversity of patients affected.

摘要

大多数描述药物遗传学实施情况的文献都来自学术医学中心,并且使用单基因测试。我们的目标是描述一项多站点药物遗传学试点项目的结果和经验教训,该项目在学术和非学术环境中利用基于面板的测试。这是对来自 4 个围手术期和 5 个门诊心脏病学诊所的 667 名患者进行的试点回顾性分析。与 12 个基因和 65 种药物相关的建议被归类为可操作或不可操作。这些建议来自临床药物遗传学实施联盟(CPIC)指南和美国食品和药物管理局(FDA)标签。患者的可操作结果(99%,88%)和具有 FDA 或 CPIC 建议的药物(46%,28%)的使用率均较高。与 FDA 标签相比,CPIC 规定每位患者当前药物的可操作结果为 16%,而每位患者为 5%。鉴于受影响患者的数量和多样性,医疗系统的系统方法可能会有所帮助。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2200/7214646/92a1f3dbcd69/CTS-13-618-g001.jpg

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