常规全基因组测序对怀疑患有癌症的儿童有好处
Angus Hodder1, Sarah M Leiter2,3,4, Jonathan Kennedy1,2,3,4
1Great Ormond Street Hospital NHS Foundation Trust, London, UK.
Nature medicine
|July 2, 2024
概括
怀疑患有癌症的儿童的全基因组测序 (WGS) 在7%的病例中改变了治疗方法. 这种常规基因组测试提供了超越标准护理的宝贵见解,影响了患者管理.
科学领域:
- 基因组医学是基因组医学.
- 儿科瘤学 儿科瘤学
背景情况:
- 临床全基因组测序 (WGS) 对儿科癌症患者,特别是高风险群体有前途.
- 常规WGS对所有怀疑患有癌症的儿童的管理的影响仍在调查中.
研究的目的:
- 评估是否向每个怀疑患有癌症的儿童提供全基因组测序可以改变患者管理.
- 评估常规WGS在儿科瘤学中的临床效用和影响.
主要方法:
- 收集了281名怀疑患有癌症的儿童的WGS变体呼叫和临床数据,这些数据来自WGS常规的两个中心.
- 分析了WGS发现的患者管理变化,并将其与标准护理分子测试进行了比较.
主要成果:
- 在大约7% (20/282) 的病例中,WGS独特识别了改变管理的变异.
- 在29% (83/281) 的病例中发现了其他与疾病相关的基因组发现.
- 世界基因组准确地复制了所有标准护理分子测试 (738项测试),并在儿童瘤中发现了新的基因组特征.
结论:
- 全基因组测序可以整合到怀疑患有癌症的儿童的常规临床护理中.
- 常规WGS提供了临床上重要的基因组见解,可以改变患者管理,并告知个性化护理.
- WGS促进了测试整合,并增强了基于分子信息的患者护理策略.
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