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Updated: Jun 16, 2025

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基因组测序在未诊断的外体测序后对未解释的儿科的有用性

Alissa M D'Gama^1,2,3,4, Wanqing Shao⁴, Lacey Smith¹

¹Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA.

medRxiv : the preprint server for health sciences

|August 16, 2024

概括

在外基因组测序失败后,基因组测序为患有不明原因的儿童提供了诊断和临床益处. 这种方法可以确定遗传原因,指导治疗,并改善儿科患者的治疗结果.

科学领域:

儿科神经学儿科神经学
遗传学是一个遗传学.
基因组医学是基因组医学.

背景情况:

是一种常见的儿童神经系统疾病,许多病例仍未在遗传上得到解决.
确定遗传原因对于有针对性的治疗和改善患者治疗结果至关重要.
对于未解释的儿科来说,在非诊断性外基因组测序后的基因组测序的价值尚未得到充分确立.

研究的目的:

为了评估基因组测序在患有不明原因的儿童的诊断产量.
评估基因组测序在这个群体中的临床效用.
为了确定基因组测序是否提供超出外基因组测序的独特诊断信息.

主要方法:

一项队列研究涉及125名参与者,他们患有无法解释的儿科和之前未经诊断的外基因组测序.
对参与者和可用父母进行了基因组测序.
评估了诊断和临床效用,重点关注遗传发现及其对患者管理的影响.

主要成果:

基因组测序产生了7.2%的诊断率 (9/125名参与者).
很大一部分 (78%) 的阳性病例需要基因组测序,因为复杂的变异 (例如,非编码,难以测序的区域).
在44%的已解决病例中观察到临床效用,影响了评估,治疗或预后.

结论:

基因组测序在无法解释的儿科病例中显示出诊断和临床实用性,其中外基因组测序是不确定的.
它应该被视为这些复杂病例的下一步诊断工具.
这种方法有助于发现遗传病因,并为临床管理提供信息.

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