Ho Teresa T, Smith D Max, Aquilante Christina L, Cicali Emily J, El Rouby Nihal, Hertz Daniel L, Imanirad Iman, Patel Jai N, Scott Stuart A, Swain Sandra M, Tuteja Sony, Hicks J Kevin
Department of Pathology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.
Department of Oncology, Georgetown University Medical Center, Washington, District of Columbia, USA.
Clin Pharmacol Ther. 2025 May;117(5):1194-1208. doi: 10.1002/cpt.3567. Epub 2025 Jan 31.
The safety of systemic fluoropyrimidines (e.g., 5-fluorouracil, capecitabine) is impacted by germline genetic variants in DPYD, which encodes the dihydropyrimidine dehydrogenase (DPD) enzyme that functions as the rate-limiting step in the catabolism of this drug class. Genetic testing to identify those with DPD deficiency can help mitigate the risk of severe and life-threatening fluoropyrimidine-induced toxicities. Globally, the integration of DPYD genetic testing into patient care has varied greatly, ranging from being required as the standard of care in some countries to limited clinical use in others. Thus, implementation strategies have evolved differently across health systems and countries. The primary objective of this tutorial is to provide practical considerations and best practice recommendations for the implementation of DPYD-guided systemic fluoropyrimidine dosing. We adapted the Exploration, Preparation, Implementation, and Sustainment (EPIS) framework to cover topics including the clinical evidence supporting DPYD genotyping to guide fluoropyrimidine therapy, regulatory guidance for DPYD genotyping, key stakeholder engagement, logistics for DPYD genotyping, development of point-of-care clinical decision support tools, and considerations for the creation of sustainable and scalable DPYD genotype-integrated workflows. This guide also describes approaches to counseling patients about DPYD testing and result disclosure, along with examples of patient and provider educational resources. Together, DPYD testing and clinical practice integration aim to promote safe prescribing of fluoropyrimidine therapy and decrease the risk of severe and life-threatening fluoropyrimidine toxicities.
全身性氟嘧啶(如5-氟尿嘧啶、卡培他滨)的安全性受到DPYD基因种系变异的影响,DPYD编码二氢嘧啶脱氢酶(DPD),该酶在这类药物的分解代谢中起限速作用。通过基因检测识别出DPD缺乏者,有助于降低氟嘧啶引起的严重及危及生命毒性的风险。在全球范围内,将DPYD基因检测纳入患者护理的情况差异很大,从在一些国家作为护理标准要求,到在其他国家临床应用有限。因此,不同卫生系统和国家的实施策略发展各异。本教程的主要目的是为实施DPYD指导的全身性氟嘧啶给药提供实际考量和最佳实践建议。我们采用了探索、准备、实施和维持(EPIS)框架,涵盖的主题包括支持DPYD基因分型以指导氟嘧啶治疗的临床证据、DPYD基因分型的监管指南、关键利益相关者的参与、DPYD基因分型的后勤保障、即时护理临床决策支持工具的开发,以及创建可持续且可扩展的DPYD基因型整合工作流程的考量因素。本指南还描述了向患者咨询DPYD检测及结果披露的方法,以及患者和提供者教育资源的示例。总之,DPYD检测与临床实践整合旨在促进氟嘧啶治疗的安全处方开具,并降低氟嘧啶严重及危及生命毒性的风险。