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评估基因组测序策略:在罕见疾病诊断中进行三组,单组和标准测试

Daniel Kaschta¹, Christina Post¹, Franziska Gaass¹

¹Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.

Genome medicine

|September 17, 2025

概括

基因组测序 (GS) 是诊断罕见疾病的强大工具. Trio GS提供了最高的诊断产量,使其成为一个有价值的第一层测试,以缩短诊断旅程.

科学领域:

基因组学就是基因组学.
罕见疾病的诊断罕见疾病的诊断
基因检测基因检测基因检测

背景情况:

简读基因组测序 (GS) 提供了全面的遗传测试能力.
它在现实世界诊断环境中的临床实用性需要进一步建立.

研究的目的:

系统地比较单个GS (sGS),三组GS (tGS) 和标准护理 (SoC) 外体序列的诊断产量.
评估GS作为一种罕见疾病的第一级遗传测试.

主要方法:

这是一项盲目的前性研究,涉及416名罕见病患者.
在3个具有不同专业知识的独立团队中比较诊断产量,变体检测,学习曲线和可行性.
进行了前性和后性分析.

主要成果:

三种GS (tGS) 实现了最高的潜在诊断收益率 (36.1%),超过了经验丰富的SoC (35.1%) 和sGS (28.8%).
追溯分析显示,tGS (40.0%),sGS (39.1%) 和SoC (36.7%) 的收益率更高.
GS检测到 SoC 错过的变种,包括深层内在和非编码变种;tGS 发现了 de novo 变种.

结论:

基因组测序,特别是tGS,在罕见疾病诊断中优于标准护理外基因组测序.
辛格尔顿GS (sGS) 是一个具有成本效益的替代方案.
应该将GS视为一级测试,以加快罕见疾病的诊断和减少患者的旅程.

关键词:

诊断的收益率是一个问题.外体序列排序是如何进行的基因组测序是指基因组的测序.罕见疾病是一种罕见的疾病.护理的标准护理的标准

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