药物遗传检测——证据、挑战和采用途径。

NEJM evidence Pub Date : 2025-10-01 Epub Date: 2025-09-23 DOI:10.1056/EVIDra2400343
Nihal El Rouby, Julie A Johnson
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引用次数: 0

摘要

遗传学在某些药物的反应中起着重要的作用。临床药物遗传学检测可用于指导药物治疗的选择或剂量,以优化结果。在过去的十年中,越来越多的证据导致了许多药物遗传关联的确定,这些关联已被整合到多个临床领域,包括心脏病学、初级保健、疼痛管理、外科和肿瘤学。通过国家实验室和药物遗传检测公司增加获得药物遗传检测的机会,促进了接受并提高了公众的兴趣。虽然临床对药物遗传学的采用有所增加,但挑战仍然存在,包括临床医生对在患者护理中导航测试和应用药物遗传学结果的后勤缺乏信心;在某些情况下,有限的检测报销;需要广泛的成果和经济数据;在临床指南中纳入检测的范围也很有限。未来的机会包括更广泛地使用多基因小组,加强临床医生培训,将药物遗传学数据整合到电子健康记录中,以及增加对现实世界实施结果数据的记录,以支持保险覆盖。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Pharmacogenetic Testing - Evidence, Challenges, and Pathways to Adoption.

AbstractGenetics plays an important role in the response to some drugs. Clinical pharmacogenetic testing can be used to guide pharmacotherapy selection or dosing to optimize outcomes. Growing evidence over the past decade has led to the identification of numerous pharmacogenetic associations, which have been integrated across multiple clinical areas, including cardiology, primary care, pain management, surgery, and oncology. Increased access to pharmacogenetic testing via national laboratories and pharmacogenetic testing companies has facilitated uptake and heightened public interest. While clinical adoption of pharmacogenetics has increased, challenges remain, including a lack of clinician confidence in navigating the logistics of testing and applying pharmacogenetics results in patient care; limited reimbursement for testing in some cases; the need for extensive outcomes and economic data; and limited inclusion of testing in clinical guidelines. Future opportunities include the broader use of multigene panels, enhanced clinician training, the integration of pharmacogenetic data within electronic health records, and increased documentation of outcomes data from real-world implementation to support insurance coverage.

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