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在新生儿查中应用下一代测序的综合解决方案

Zhong-Yao Xu, Shuo-Dan Huang, Jie Zou

Clinical laboratory

|May 19, 2025

概括

在新生儿查 (NBS) 中集成的下一代测序 (NGS) 提供了一个快速的诊断解决方案. 这种经过验证的工作流确认已知变异并检测新变异,使新生儿能够及时诊断遗传疾病.

科学领域:

基因组学和个性化医学
临床诊断和遗传检测临床诊断和遗传检测
公共卫生和新生儿查

背景情况:

下一代测序 (NGS) 显著提高了遗传性疾病的诊断.
正在积极考虑将NGS纳入新生儿查 (NBS) 进行可采取行动的情况.
评估NBS应用程序的集成NGS解决方案对于推进早期疾病检测至关重要.

研究的目的:

评估用于新生儿查的综合NGS解决方案的可行性和效率.
确定 NBS 拟议的 NGS 工作流程的周转时间和可扩展性.
验证NGS在识别与可采取行动的新生儿疾病相关的遗传变异方面的准确性.

主要方法:

设计了一个NGS小组,涵盖155个与代谢,听力损失,严重综合免疫缺陷和先天性甲状腺功能低下相关的基因.
开发了一种综合图书馆准备策略,将多重PCR,目标丰富和样本条形码结合起来.
组装了一种临床遗传分析系统,用于简化生物信息学分析和报告,通过160个已知的变异样本进行验证.

主要成果:

实现了大约34小时的端到端周转时间,用于DNA隔离到测序,对160个并行样本的生物信息学分析在4小时内完成.
启用在第3天之前报告结果,满足NBS时间框架.
成功证实了所有已知的变异,并在之前未被诊断的病例中确定了两个大型插入/删除.

结论:

综合NGS解决方案证明了新生儿查的实用和高效方法.
工作流提供了合理的周转时间,适合NBS程序的需求.
该系统具有可扩展性,可以广泛实施,以提高对遗传疾病的早期检测.

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