药物基因组测试 药物基因组测试
Yuan Ji1, Lindsey Brunk2, Betsy Bove3
1From the Division of Clinical Pathology, Department of Pathology, University of Utah and ARUP Laboratories, Salt Lake City (Ji, Smock).
Archives of pathology & laboratory medicine
|November 21, 2025
概括
实施药物遗传学 (PGx) 测试的临床实验室应考虑测试设计,验证和报告. 为标准化PGx测试实施和监管合规性提供了指导.
科学领域:
- 临床实验室科学 临床实验室科学
- 药物基因组学 药物基因组学
- 分子诊断学 分子诊断
背景情况:
- 临床实验室越来越多地采用药基因组 (PGx) 测试.
- 与其他遗传测试相比,PGx测试具有独特的考虑因素.
研究的目的:
- 为临床实验室在实施PGx测试方面提供指导.
- 描述PGx测试设计,验证和报告.
- 为了突出实验室PGx测试的资源.
主要方法:
- 美国病理学家学院成立了一个工作组,对临床PGx测试有专业知识.
- 来自分子病理学协会和美国医学遗传学和基因组学学院的代表参加了会议.
- 工作组审查了从能力测试和成员实验室获得的文献和经验.
主要成果:
- 对PGx测试实施的建议包括平台选择,基因/变异选择,参考材料,命名法,基因型到表型翻译和报告策略.
- 讨论了使用供应商报告工具的考虑因素,强调了实验室的责任.
- 命名和报告的标准化对于可靠的PGx结果至关重要.
结论:
- 实验室必须了解PGx的基本原理,并满足监管要求.
- 遵守标准化命名法和报告的建议是必不可少的.
- 成功实施PGx需要对测试设计,验证和报告实践给予密切关注.
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