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针对扩大人口的下一代DNA测序的可行性新生儿查新生儿查

Bennett Oh Vic Shum^1,2, Carel Jacobus Pretorius^3,4, Letitia Min Fen Sng^5,6

¹Preventive Health Division, Genepath, Sydney, NSW, Australia.

Clinical chemistry

|July 14, 2023

概括

向基因测序 (TGS) 提供了一种可行的方法,以扩大新生儿查 (NBS) 遗传疾病的范围. 这种方法证明了高精度和成本效益,为更广泛的NBS计划铺平了道路.

科学领域:

基因组学就是基因组学.
公共卫生公共卫生
临床诊断临床诊断临床诊断

背景情况:

新生儿查 (NBS) 对于早期发现遗传性疾病至关重要,但受适合测试的可用性限制.
整个基因组和整个外基因组测序对人口层面的NBS构成技术障碍.
针对性基因测序 (TGS) 被探索为扩大NBS能力的潜在解决方案.

研究的目的:

调查针对性基因测序 (TGS) 的可行性,以扩大新生儿查 (NBS).
开发和验证用于广泛的遗传性疾病的TGS试验.
评估TGS对NBS的成本效益.

主要方法:

一个包含164个基因的TGS小组被开发出来,用于选各种遗传性疾病.
建立了一个高吞吐量,低周转率的实验室和生物信息工作流,减轻了WGS/WES.的挑战.
在2552名新生儿身上进行了分析验证和性能测试,并进行了成本效益分析.

主要成果:

在TGS测定中,分析灵敏度超过99%,特异性超过100%.
在接受查的新生儿中,1.3%的新生儿呈阳性检测,平均每个人有225种变异需要解释.
周转时间为710天,最大批量大小为1536个样本,并确定了1.8%的不确定的意义 (VUS) 变异.

结论:

向基因测序 (TGS) 是一种可行的方法,可以增强新生儿查 (NBS) 计划.
在TGS测定显示了在NBS中具有成本效益的实施潜力.
这种方法可以显著增加通过NBS识别的可治疗遗传疾病的数量.

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