通过下一代测序来审问药物遗传学
Yuan Ji1,2, Sherin Shaaban1,2
1Department of Pathology, University of Utah, Salt Lake City, UT, United States.
The journal of applied laboratory medicine
|January 3, 2024
概括
药物遗传学 (PGx) 测试正在转向全基因组和全外基因组测序. 本文概述了临床实验室开发基于下一代测序 (NGS) 的PGx测试的技术考虑,以获得更广泛的药物反应见解.
科学领域:
- 基因组医学是基因组医学.
- 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:
- 药物遗传学 (PGx) 研究遗传变异对药物反应的影响.
- 分子技术的进步使PGx分析能够在整个外体和整个基因组尺度上进行.
- 目前的临床PGx测试通常依赖于向基因型定型,并采用了下一代测序 (NGS).
研究的目的:
- 讨论临床实验室开发基于NGS的PGx测试的技术考虑.
- 突出基于NGS的PGx测试设计和实施中的挑战和机遇.
- 为解决生物信息管道,变种分类和临床实用性报告.
主要方法:
- 对开发基于NGS的PGx测定技术方面的审查.
- 讨论对等位基和双型组分配的生物信息学策略.
- 考虑罕见变异分类和临床报告.
主要成果:
- NGS平台为PGx测试提供了增强的功能,包括全基因组和全外基因组测序.
- 开发强大的生物信息管道对于准确的PGx等位基因和双型基因分配至关重要.
- 需要对实践进行标准化,以最大限度地提高基于NGS的PGx分析的实用性.
结论:
- 由于技术进步和成本降低,临床实验室不可避免地过渡到基于NGS的PGx测试.
- 认识到NGS的潜力和局限性对于成功的临床实施至关重要.
- 实验室和专业协会之间的合作对于开发一致和有效的PGx测试实践至关重要.
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