针对广泛的医学相关二次发现进行机会性查:实验室的好处和负担
Chloe Mighton1, Emma Reble2, Jordan Sam2
1Institute of Health Policy, Management & Evaluation, University of Toronto, Toronto, Ontario, Canada; Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
概括
外基组测序可以识别医学上相关的二次发现 (SFs),但也可以识别许多不确定的意义 (VUS) 的变异. 这增加了基因分析和报告的工作量.
科学领域:
- 基因组医学是基因组医学.
- 临床基因组学 临床基因组学
- 生物信息学是一种生物信息学.
背景情况:
- 外基因组和基因组测序为检测超出主要临床指示的二次发现 (SF) 提供了机会.
- 偶然基因组学试验调查了对广泛的SFs进行查的有用性和影响.
研究的目的:
- 评估从外基因组测序中获得的医学相关的二次发现 (SFs) 的产量.
- 评估提供SF对遗传分析和报告工作量的影响.
主要方法:
- 参与者接受了外基因组测序,并被随机分配到仅接受初级癌症发现 (控制) 或初级发现加上SFs (干预) 的选择.
- 分析的重点是确定SF基因中的致病性/可能致病性 (P/LP) 变体和不确定的意义 (VUS) 变体.
主要成果:
- 在279名参与者中发现了高比例的可报告P/LP变体 (5.0%) 和更多的VUS.
- 与单一性疾病风险相关的二次发现报告在35.3%的参与者中,携带者身份在89.3%中.
- 干预组在变种过,分类和报告准备方面经历了更长的时间.
结论:
- 外基组测序提供了可报告的二次发现的高收益率.
- 然而,由于存在许多具有不确定的意义的变异,因此需要增加分析和报告工作.
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