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在实践中导航药物基因组测试:测试谁,测试什么时候

James M Stevenson^1,2, D Max Smith^3,4, Sony Tuteja⁵

¹Division of Clinical Pharmacology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Clinical pharmacology and therapeutics

|May 6, 2025

概括

药物遗传学 (PGx) 测试提供了个性化的药物管理,但由于不一致的指导方针和不清楚的患者选择标准,它面临着采用障碍. 本综述探讨了影响PGx测试决策和实施模型的因素.

科学领域:

药物基因组学药物基因组学
临床药理学临床药理学
个性化医疗是个性化的医疗.

背景情况:

越来越多的人对药物遗传学 (PGx) 测试对个性化药物管理感兴趣.
临床实践指南中的有限的例行PGx测试建议,阻碍了采用.
在指导方针,FDA标签和退款政策的不一致性阻碍了广泛使用.

研究的目的:

讨论决定谁应该接受PGx测试以及何时进行测试的关键考虑因素.
探索临床有效性以外的因素,包括可操作的结果频率和替代治疗方法.
介绍在现实世界临床环境中识别PGx测试候选人的观点.

主要方法:

审查与PGx测试相关的现有资源和临床实践指南.
讨论PGx测试候选人选择的各种考虑因素.
分析不同的PGx测试模型:预防性,预处理性和反应性测试.

主要成果:

多种因素影响PGx测试决策,包括临床有效性,可操作结果频率,不良结果严重程度,预测能力,替代治疗方法,成本和周转时间.
现有的资源往往缺乏关于患者选择PGx测试的指导.
不同的测试模型 (预防性,预处理性,反应性) 具有明显的优点和缺点.

结论:

解决PGx测试的"谁"和"什么时候"的问题对于临床采用至关重要.
需要采用综合方法,考虑除药物基因相互作用之外的多种因素.
在现实世界中确定PGx测试的候选者需要仔细考虑实际和临床因素.

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