Jeiziner Chiara, Stäuble Céline K, Lampert Markus L, Hersberger Kurt E, Meyer Zu Schwabedissen Henriette E
Pharmaceutical Care Research Group, Department of Pharmaceutical Sciences, University of Basel, Basel, Switzerland.
Biopharmacy, Department of Pharmaceutical Sciences, University of Basel, Basel, Switzerland.
Pharmgenomics Pers Med. 2021 Feb 19;14:279-286. doi: 10.2147/PGPM.S285807. eCollection 2021.
Pharmacogenotyping is applied to determine the hereditable component of a patient's susceptibility to experience therapy failure and/or adverse drug reactions (ADRs). We present the case of a female patient diagnosed with breast cancer and treated with tamoxifen as recurrence therapy who experienced various ADRs. Pharmacogenotyping revealed variants in the cytochrome P450 (CYP) enzymes CYP2D6, CYP2C9, and CYP2C19. The observed genotype was associated with a risk for lower tamoxifen efficacy. Aside from the tamoxifen therapy, the comedication was reviewed for the influence of the patient's pharmacogenetic profile. As a result of this pharmacist-led medication review with pharmacogenetic analyses, concrete genotype-driven recommendations for the treating gynecologist were compiled. This case revealed the added value of a large pharmacogenetic panel and the complexity of integrating a pharmacogenetic profile into a recommendation.
药物基因分型用于确定患者治疗失败和/或药物不良反应（ADR）易感性的遗传成分。我们报告了一例诊断为乳腺癌并接受他莫昔芬作为复发治疗的女性患者，该患者出现了各种ADR。药物基因分型显示细胞色素P450（CYP）酶CYP2D6、CYP2C9和CYP2C19存在变异。观察到的基因型与他莫昔芬疗效降低的风险相关。除了他莫昔芬治疗外，还审查了合并用药对患者药物遗传学特征的影响。通过由药剂师主导的药物审查和药物遗传学分析，为妇科主治医生编制了具体的基于基因型的建议。该病例揭示了大型药物基因检测板的附加价值以及将药物遗传学特征纳入建议的复杂性。
