Amstutz Ursula
Bern University Hospital Department of Clinical Chemistry and Clinical Genomics Lab, Inselspital Freiburgstrasse 3010 Bern Switzerland.
Med Genet. 2025 Jul 17;37(3):197-206. doi: 10.1515/medgen-2025-2019. eCollection 2025 Jul.
Genomic variants affecting an individual's response to drug therapies are common in populations worldwide. For clinical use, information on pharmacogenomic variation is translated into genotype-based therapy recommendations in evidence-based clinical practice guidelines for an increasing number of drugs. While clinical pharmacogenetic testing is currently still frequently performed at the level of individual genes, recent evidence highlighted the potential of a panel-based testing approach to substantially reduce the incidence of adverse drug reactions. This review provides background on pharmacogenetics, nomenclature used for reporting pharmacogenetic test results, as well as an overview of available resources for pharmacogenetic test interpretation.
影响个体对药物治疗反应的基因组变异在全球人群中很常见。在临床应用中,关于药物基因组变异的信息在越来越多药物的循证临床实践指南中被转化为基于基因型的治疗建议。虽然目前临床药物遗传学检测仍经常在单个基因水平上进行,但最近的证据凸显了基于基因 panel 的检测方法在大幅降低药物不良反应发生率方面的潜力。本综述提供了药物遗传学的背景知识、用于报告药物遗传学检测结果的命名法,以及药物遗传学检测解读的可用资源概述。