Mosch R, van der Lee M, Guchelaar H J, Swen J J
Department of Clinical Pharmacy and Toxicology, Leiden University Medical Center, Leiden, The Netherlands; email:
Annu Rev Pharmacol Toxicol. 2025 Jan;65(1):91-109. doi: 10.1146/annurev-pharmtox-061724-080935. Epub 2024 Dec 17.
Pharmacogenetics (PGx) aims to optimize drug treatment outcomes by using a patient's genetic profile for individualized drug and dose selection. Currently, reactive and pretherapeutic single-gene PGx tests are increasingly applied in clinical practice in several countries and institutions. With over 95% of the population carrying at least one actionable PGx variant, and with drugs impacted by these genetic variants being in common use, pretherapeutic or preemptive PGx panel testing appears to be an attractive option for better-informed drug prescribing. Here, we discuss the current state of PGx panel testing and explore the potential for clinical implementation. We conclude that available evidence supports the implementation of pretherapeutic PGx panel testing for drugs covered in the PGx guidelines, yet identification of specific patient populations that benefit most and cost-effectiveness data are necessary to support large-scale implementation.
药物遗传学（PGx）旨在通过利用患者的基因谱进行个体化药物和剂量选择，以优化药物治疗效果。目前，反应性和治疗前单基因PGx检测在一些国家和机构的临床实践中越来越多地得到应用。超过95%的人群携带至少一种可采取行动的PGx变异，且受这些基因变异影响的药物在普遍使用，治疗前或预防性PGx panel检测似乎是一种有助于更明智地开药的有吸引力的选择。在此，我们讨论PGx panel检测的现状，并探讨其临床实施的潜力。我们得出结论，现有证据支持对PGx指南中涵盖的药物实施治疗前PGx panel检测，但确定最受益的特定患者群体以及成本效益数据对于支持大规模实施是必要的。
