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一种基因组测序方法用于新生儿大规模查及其机遇

Diana Carli^1,2, Paola Quarello^3,4, Francesco Porta⁵

¹Department of Medical Sciences, University of Turin, Turin, Italy.

JAMA network open

|October 17, 2025

概括

新生儿查 (NBS) 的下一代测序 (NGS) 是可行的,可以从干血斑 (DBS) 识别出许多可操作的遗传条件. 这种基因组方法可以进行早期诊断,但需要仔细实施,并进行遗传咨询和随访.

科学领域:

基因组学就是基因组学.
医学遗传学医学遗传学
新生儿查新生儿查

背景情况:

下一代测序 (NGS) 提供了在新生儿查 (NBS) 中早期识别遗传疾病的潜力.
目前的NBS方法在检测所有可采取行动的遗传疾病方面存在局限性.
将NGS整合到常规NBS中面临着可行性,解释和临床影响方面的挑战.

研究的目的:

评估基于NGS的NBS计划的可行性和可接受性.
评估使用干血斑点 (DBSs) 的DNA上的全外体序列测序 (WES) 的临床影响.
探索建立基因组测序数据库,以便在未来重新分析.

主要方法:

一项前性队列研究,涉及来自三级医院的新生儿.
全外体序列测序 (WES) 在从干血斑 (DBSs) 中提取的DNA上进行.
使用了与儿科发病相关的521个基因的in silico面板,仅报告了致病性或可能致病性变体.

主要成果:

在99.7%的注册新生儿中,测序成功.
13.0%的新生儿接受了可行的分子诊断.
重新分析发现,在有临床怀疑的20%病例中,最初没有进行查的诊断.

结论:

在DBS上使用WES的基因组NBS在技术上是可行的,并确定可操作的遗传条件.
基因组方法代表了NBS的逻辑进步,但道德,后勤和临床挑战仍然存在.
成功的整合需要强大的遗传咨询和长期后续协议.

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