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药物遗传测试的临床实施之路:来自外部质量评估提供商和大学测试中心的长期经验

Maren Hedtke¹, Volker Ast¹, Johannes Leidheiser²

¹Institute of Clinical Chemistry, University Hospital Mannheim, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany.

Oncology research and treatment

|June 30, 2025

概括

欧洲的指导方针显著提高了二皮里米丁脱酶 (DPYD) 基因定型要求,提高了癌症患者的安全性. 这种转向治疗前测试的转变提高了化疗的疗效,并减少了药物不良反应.

科学领域:

药物遗传学药物遗传学
精准医学是一门精准的医学.
在瘤学瘤学.

背景情况:

药物遗传学 (PGx) 对精准医学至关重要,指导基于遗传变异的药物代谢.
DPYD基因变异影响DPD酶活性,影响5-甲代谢,并可能导致严重的药物不良反应.
2020年欧洲药物管理局 (EMA) 的认可和国家指导方针促进了先发性DPYD基因定型.

研究的目的:

评估EMA和国家指导方针对德国大学医院DPYD基因造型要求的影响.
评估DPYD测试行为的趋势,特别是从治疗后基因型定型到治疗前基因型定型的转变.
分析欧洲实验室参与DPYD测试的外部质量评估 (EQA) 方案.

主要方法:

在曼海姆大学医学中心 (2015-2021) 对386个DPYD遗传测试进行了回顾性分析.
从电子健康记录中审查患者数据 (人口统计,诊断,治疗).
从生物分析参考研究所 (2015-2023) 分析EQA数据,以衡量欧洲的采用.

主要成果:

在EMA推后观察到DPYD基因型化请求的显著增加 (高达29倍).
记录了从治疗后转向治疗前基因定型的显著转变.
在6.5%的病例中发现DPYD变异;DPYD HapB3是最常见的. 欧洲EQA数据显示参与率增加,证实了指南的影响.

结论:

对DPYD测试的国家指导方针的整合显著改善了瘤学中的临床采用和患者安全.
标准化DPYD测试和PGx指南需要进一步协调.
通过指导方针协调和扩大PGx测试,可以进一步推进化疗安全的优化.

关键词:

5 - - 甲是一种甲.卡佩西塔是一种素.化疗化疗是一种化学疗法.结肠直肠癌是一种癌症.DPYD的DPYD是什么意思二皮里米丁脱水酶.

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