Stocker Sophie L, Polasek Thomas M
School of Pharmacy, Faculty of Medicine and Health, The University of Sydney.
Department of Clinical Pharmacology and Toxicology, St Vincent's Hospital Sydney.
Aust Prescr. 2025 Jun;48(3):82-86. doi: 10.18773/austprescr.2025.021.
Pharmacogenomic testing provides information on whether a patient possesses gene variants that can influence drug exposure or response. It can be used as part of clinical decision-making to personalise drug therapy. Pharmacogenomic testing can help identify patients at higher risk of serious adverse drug reactions or therapeutic failure, and sometimes it can explain unexpected adverse effects or poor efficacy in patients already on drug therapy. As drug responses are influenced by many factors, pharmacogenomic test results must always be interpreted in the clinical context of the patient. At the time of writing, tests for thiopurine methyltransferase (TPMT) (azathioprine, mercaptopurine, thioguanine) and human leucocyte antigen B*57:01 (abacavir) are Medicare-rebated. Pharmacogenomic testing is also recommended for several other drugs, such as allopurinol and clopidogrel, but these do not currently attract a Medicare rebate.
药物基因组学检测可提供有关患者是否拥有能够影响药物暴露或反应的基因变异的信息。它可作为临床决策的一部分，用于使药物治疗个性化。药物基因组学检测有助于识别发生严重药物不良反应或治疗失败风险较高的患者，有时还能解释正在接受药物治疗的患者出现的意外不良反应或疗效不佳的情况。由于药物反应受多种因素影响，药物基因组学检测结果必须始终结合患者的临床情况进行解读。在撰写本文时，硫嘌呤甲基转移酶（TPMT）（硫唑嘌呤、巯嘌呤、硫鸟嘌呤）和人类白细胞抗原B*57:01（阿巴卡韦）检测可获医疗保险回扣。对于其他几种药物，如别嘌醇和氯吡格雷，也推荐进行药物基因组学检测，但目前这些检测不享受医疗保险回扣。
