一个评估和报告临床基因组测试中偶然发现的框架
Carolyn M Brown1, Laura M Amendola2, Anjana Chandrasekhar2
1Medical Genomics Research, Illumina, Inc., San Diego, CA, 92122, USA. carolynm.brown26@gmail.com.
European journal of human genetics : EJHG
|April 2, 2024
概括
本研究引入了从临床基因组测序 (cGS) 中返回偶然发现 (IF) 的框架. 该框架规范了报告,在5.1%的受试者中成功返回可操作的IF.
科学领域:
- 基因组学就是基因组学.
- 临床诊断 临床诊断 临床诊断
- 生物伦理学生物伦理学
背景情况:
- 基因组测试,包括临床基因组测序 (cGS),可以产生与主要测试指示无关的意想不到的结果,称为偶然发现 (IF).
- 目前缺乏返回IF的标准化建议,导致实验室报告政策变化且往往不透明.
- 这种变异性对基因组医学中一致的患者护理和知情同意提出了挑战.
研究的目的:
- 开发和实施一个结构化的框架,用于评估和返回在临床基因组测序 (cGS) 过程中发现的偶然发现 (IF).
- 建立一个系统的方法,优先考虑IFs的临床意义和可操作性.
- 为临床基因组实验室提供IF报告实践标准化的模型.
主要方法:
- 根据临床意义和可行性,为评估偶然发现 (IF) 制定一个逐步框架.
- 在临床实验室环境中,在18个月的时间内实施框架.
- 在接受临床基因组测序 (cGS) 的人群中追踪可操作的IF的识别和返回.
主要成果:
- 实施的框架有助于在接受临床基因组测序 (cGS) 的720人中有37人 (占5.1%) 中恢复可采取行动的偶然发现 (IF).
- 除了葡萄糖-6-酸盐脱酶 (G6PD) 缺乏,可操作的IF回报率为3.1%.
- 在现实世界的临床实验室环境中证明了框架的可行性和实用性.
结论:
- 开发的框架提供了一种标准化和透明的方法来管理临床基因组测序 (cGS) 中的偶然发现 (IF).
- 优先考虑临床意义和可操作性,确保返回的IF与患者管理相关且有益.
- 该模型可以指导实验室制定IF报告的一致政策,增强患者护理和对基因组医学的信任.
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