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本文引用的文献

1
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.全外显子测序和拷贝数变异测序的结合使得罕见神经疾病的诊断成为可能。
Clin Genet. 2019 Aug;96(2):140-150. doi: 10.1111/cge.13548. Epub 2019 Apr 22.
2
Many newborns in level IV NICUs are eligible for rapid DNA sequencing.许多四级新生儿重症监护病房的新生儿适合进行快速DNA测序。
Am J Med Genet A. 2019 Feb;179(2):280-284. doi: 10.1002/ajmg.a.61011. Epub 2018 Dec 19.
3
Increasing the diagnostic yield of exome sequencing by copy number variant analysis.通过拷贝数变异分析提高外显子组测序的诊断率。
PLoS One. 2018 Dec 17;13(12):e0209185. doi: 10.1371/journal.pone.0209185. eCollection 2018.
4
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.快速儿科测序（RaPS）：危重症儿童快速诊断的综合实际工作流程。
J Med Genet. 2018 Nov;55(11):721-728. doi: 10.1136/jmedgenet-2018-105396. Epub 2018 Jul 26.
5
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.快速全基因组测序可降低婴儿发病率和住院费用。
NPJ Genom Med. 2018 Apr 4;3:10. doi: 10.1038/s41525-018-0049-4. eCollection 2018.
6
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.NSIGHT1随机对照试验：在危重症婴儿中进行快速全基因组测序以加速病因诊断
NPJ Genom Med. 2018 Feb 9;3:6. doi: 10.1038/s41525-018-0045-8. eCollection 2018.
7
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.在重症监护病房对婴儿使用外显子组测序：严重单基因疾病的确诊及对医疗管理的影响
JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438.
8
Rapid Targeted Genomics in Critically Ill Newborns.危重新生儿的快速靶向基因组学。
Pediatrics. 2017 Oct;140(4). doi: 10.1542/peds.2016-2854.
9
A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.
Am J Med Genet A. 2017 Jul;173(7):1979-1982. doi: 10.1002/ajmg.a.38259. Epub 2017 May 12.
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Implementing Genome-Driven Oncology.实施基因组驱动的肿瘤学。
Cell. 2017 Feb 9;168(4):584-599. doi: 10.1016/j.cell.2016.12.015.

靶向基因 panel 测序在急性病婴儿快速诊断中的应用。

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.

机构信息

University of Utah School of Medicine, Salt Lake City, Utah.

Intermountain Healthcare, Salt Lake City, Utah.

出版信息

Mol Genet Genomic Med. 2019 Jul;7(7):e00796. doi: 10.1002/mgg3.796. Epub 2019 Jun 13.

DOI:10.1002/mgg3.796
PMID:31192527
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6625092/
Abstract

BACKGROUND

Exome/genome sequencing (ES/GS) have been recently used in neonatal and pediatric/cardiac intensive care units (NICU and PICU/CICU) to diagnose and care for acutely ill infants, but the effectiveness of targeted gene panels for these purposes remains unknown.

METHODS

RapSeq, a newly developed panel targeting 4,503 disease-causing genes, was employed on selected patients in our NICU/PICU/CICU. Twenty trios were sequenced from October 2015 to March 2017. We assessed diagnostic yield, turnaround times, and clinical consequences.

RESULTS

A diagnosis was made in 10/20 neonates (50%); eight had de novo variants (ASXL1, CHD, FBN1, KMT2D, FANCB, FLNA, PAX3), one was a compound heterozygote for CHAT, and one had a maternally inherited GNAS variant. Preliminary reports were generated by 9.6 days (mean); final reports after Sanger sequencing at 16.3 days (mean). In all positive infants, the diagnosis changed management. In a case with congenital myasthenia, diagnosis and treatment occurred at 17 days versus 7 months in a historical control.

CONCLUSIONS

This study shows that a gene panel that includes the majority of known disease-causing genes can rapidly identify a diagnosis in a large number of tested infants. Due to simpler deployment and interpretation and lower costs, this approach might represent an alternative to ES/GS in the NICU/PICU/CICU.

摘要

背景

外显子组/基因组测序（ES/GS）最近已被用于新生儿和儿科/心脏重症监护病房（NICU 和 PICU/CICU），以诊断和治疗患有急性疾病的婴儿，但针对这些目的的靶向基因面板的有效性仍不清楚。

方法

RapSeq 是一种新开发的针对 4503 种致病基因的面板，在我们的 NICU/PICU/CICU 中对选定的患者进行了使用。2015 年 10 月至 2017 年 3 月对 20 个三联体进行了测序。我们评估了诊断率、周转时间和临床后果。

结果

在 20 名新生儿中（50%）做出了诊断；8 名患有新生变异（ASXL1、CHD、FBN1、KMT2D、FANCB、FLNA、PAX3），1 名是 CHAT 的复合杂合子，1 名具有母系遗传的 GNAS 变异。初步报告生成时间为 9.6 天（平均值）；最终报告在 16.3 天（平均值）进行 Sanger 测序后生成。在所有阳性婴儿中，诊断改变了治疗方案。在一例先天性肌无力患者中，诊断和治疗在 17 天进行，而在历史对照组中则在 7 个月进行。

结论

本研究表明，包含大多数已知致病基因的基因面板可以快速识别大量检测婴儿的诊断。由于部署和解释更简单，成本更低，因此这种方法可能是 NICU/PICU/CICU 中 ES/GS 的替代方法。