在被转诊的患者中发现的分子发现用于临床全外因子序列测序
Yaping Yang1, Donna M Muzny2, Fan Xia1
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
JAMA
|October 19, 2014
概括
全外体测序 (WES) 诊断了25%的疑似遗传疾病患者,确定了新的突变和可操作的偶然发现. 这种基因测试在复杂病例中比传统方法具有优势.
科学领域:
- 基因组学就是基因组学.
- 医学遗传学 医学遗传学
- 临床诊断 临床诊断 临床诊断
背景情况:
- 临床全外体测序 (WES) 是诊断遗传疾病的越来越多的工具.
- 了解WES的诊断产量和发现范围对于其临床应用至关重要.
研究的目的:
- 评估不同表型群体中WES分子诊断率.
- 鉴定出基因变异的谱的特征.
- 确定医学上可采取行动的偶然发现的流行程度.
主要方法:
- 一项观察性研究分析了连续2000名接受临床WES治疗的患者.
- 患者主要是儿科患者,有不同的临床表现,通常涉及神经系统功能障碍.
- 评估了诊断率,遗传事件谱和偶然发现.
主要成果:
- 在25.2%的患者 (504/2000) 中实现了分子诊断.
- 神经现象型显示诊断率在20.1%至36.1%之间.
- 在92名患者 (4.6%) 中发现了95个医学上可采取行动的偶然发现.
结论:
- 整个外体序列测序为大量疑似遗传疾病的患者提供了分子诊断.
- WES发现了新的突变和罕见的遗传事件,比传统的诊断方法有优势.
- 该研究强调了WES在发现疾病的遗传原因和识别可采取行动的偶然发现方面的有用性.
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