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新生儿查的第一级下一代测序:生物化学二级测试的重要作用

Sarah L Stenton^1,2, Madelynn Campagna³, Anthony Philippakis¹

¹Broad Institute of MIT and Harvard, Cambridge, MA.

Genetics in medicine open

|September 6, 2024

概括

新生儿查 (NBS) 的基因组测序识别了许多有风险的婴儿. 使用生物化学试验的分层方法可以帮助管理未知意义的变异 (VUS) 并减少错误阳性.

科学领域:

遗传学是一个遗传学.
基因组医学是基因组医学.
生物化学生物化学

背景情况:

使用基因组序列数据扩展新生儿查 (NBS) 在DNA变异解释方面提出了挑战.
像gnomAD这样的人口级别数据库提供了对变异频率的洞察力,但可能无法捕捉到所有全球多样性.

研究的目的:

通过下一代测序 (NGS) 对遗传疾病进行阳性测试的新生儿数量的估计.
评估未知意义变异 (VUS) 对查结果的影响.
提出一种在NBS中管理NGS正值结果的策略.

主要方法:

对基因组聚合数据库 (gnomAD) 的分析,以估计变异频率.
预计的一组单源性衰退性疾病的NGS阳性新生儿的计算,包括 lysosomal存储疾病.
通过对高频VUS进行生化注释来建模积极结果的减少.

主要成果:

对于溶酶体储存疾病,大规模的NBS实验室估计每年每种疾病有100-600名NGS阳性新生儿,潜在上升至1000名.
将前10名VUS标记为良性可能会使积极结果下降2.5到10倍.
确诊为NGS阳性的新生儿数量很大,这突显了需要有效的解释策略的需要.

结论:

在NBS中基因组测序产生了大量的积极结果,包括VUS.
建议在干血斑点上进行二级生物化学测定,作为一个过器,以减少需要进一步调查的高风险新生儿的数量.
这种分层的方法可以使基因组NBS更易于管理和临床可行的.

关键词:

干燥的血液斑点干燥的血液斑点基因组学就是基因组学.代谢过程中的先天性错误.新生儿查新生儿查下一代测序的下一代测序.双联质谱质量测量技术

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