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实践中进行药物基因组学检测:检测对象与检测时机

Navigating Pharmacogenomic Testing in Practice: Who to Test and When to Test.

作者信息

Stevenson James M, Smith D Max, Tuteja Sony, Patel Jai N

机构信息

Division of Clinical Pharmacology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

出版信息

Clin Pharmacol Ther. 2025 Sep;118(3):561-566. doi: 10.1002/cpt.3704. Epub 2025 May 5.

Abstract

There is increasing attention on the clinical utility and value of pharmacogenetic (PGx) testing to individualize medication management. Most clinical practice guidelines from medical professional societies do not recommend routine PGx testing, with a few key exceptions. Inconsistent recommendations across clinical practice guidelines, FDA product labeling, and payer reimbursement policies have hampered widespread adoption of testing. Multiple resources exist to aid in the adoption and use of actionable PGx test results in clinical practice; however, most of these resources do not provide guidance on who should receive PGx testing and when-a critical question the clinical community continues to struggle with. There are multiple considerations when answering this question beyond the clinical validity of the drug-gene interaction itself, such as the actionable result frequency, severity of the adverse clinical outcome, predictive power of the PGx test, suitability of alternative treatments, cost, and turnaround time of test results. This perspective discusses these considerations and models for testing including preemptive screening, pretreatment testing, and reactive testing, highlighting advantages and disadvantages of each approach. The authors provide their perspectives on identifying candidates for PGx testing in the current real-world environment and how that differs from a clinically ideal scenario.

摘要

药物基因组学(PGx)检测在个体化药物管理中的临床效用和价值日益受到关注。大多数医学专业协会的临床实践指南不推荐常规PGx检测,但有一些关键例外情况。临床实践指南、美国食品药品监督管理局(FDA)产品标签和支付方报销政策之间不一致的建议阻碍了检测的广泛应用。有多种资源可帮助在临床实践中采用和使用可采取行动的PGx检测结果;然而,这些资源大多未就谁应接受PGx检测以及何时进行检测提供指导,这是临床界仍在苦苦思索的关键问题。回答这个问题时,除了药物-基因相互作用本身的临床有效性外,还有多个需要考虑的因素,如可采取行动的结果频率、不良临床结局的严重程度、PGx检测的预测能力、替代治疗的适用性、成本以及检测结果的周转时间。本观点讨论了这些考虑因素以及检测模式,包括前瞻性筛查、治疗前检测和反应性检测,突出了每种方法的优缺点。作者就如何在当前现实环境中识别PGx检测的候选者以及这与临床理想情况有何不同发表了他们的观点。

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