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药物基因组实施对囊性纤维化患者护理的现状

Emma M Tillman¹, Cameron McKinzie², Dave Young³

¹Division of Clinical Pharmacology, Indiana University School of Medicine, Indianapolis, Indiana, USA.

Pediatric pulmonology

|August 8, 2025

概括

药物遗传学 (PGx) 测试很少用于美国囊性纤维化 (CF) 护理,超出CFTR基因分析. 虽然提供者对PGx开放,但障碍阻碍了其实施,以改善CF患者的护理.

科学领域:

药物遗传学和精准医学药物遗传学和精准医学
临床药学和治疗药物
囊性纤维化护理囊性纤维化

背景情况:

囊性纤维化 (CF) 是一种慢性多器官疾病,由于CFTR调节器疗法,预期寿命增加.
患有CF的人 (PwCF) 面临着众多的并发症和多药,需要优化药物选择和剂量.
临床药物遗传学 (PGx) 为药物基因相互作用提供基于证据的指导方针,以个性化医疗.

研究的目的:

评估目前在美国CF基金会认可的护理中心对PwCF的护理中使用PGx测试的情况.
确定在常规CF临床实践中实施PGx的障碍.

主要方法:

在美国的CF基金会认可的护理中心和附属计划 (CFF-ACCAP) 分发了一份14项电子调查.
收集了74个响应,评估了目前的PGx测试实践,超出了CFTR基因.

主要成果:

只有4%的受访者报告使用了超出CFTR基因的PGx测试.
显著的大多数 (89%) 表示他们目前不会在CFTR之外对药物基因对进行PGx.
在美国CFF-ACCAP中,PGx的实施并不常见.

结论:

在美国的CF护理中,尽管在PwCF中优化治疗的潜在好处,但PGx的利用不足.
结核病中心的医疗保健提供者愿意将PGx纳入临床实践.
显著的障碍阻碍了PGx的广泛采用,强调了需要实施指导的需要.

关键词:

药物不良反应药物不良反应囊性纤维化病的发生.药物相互作用药物相互作用药物基因组学药物基因组学

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