危重症婴儿的快速外显子组测序：从法国地区医院的角度看在常规护理中的实施情况
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.
作者信息
Wells Constance F, Boursier Guilaine, Yauy Kevin, Ruiz-Pallares Nathalie, Mechin Déborah, Ruault Valentin, Tharreau Mylène, Blanchet Patricia, Pinson Lucile, Coubes Christine, Fila Marc, Baleine Julien, Pidoux Odile, Badr Maliha, Milesi Christophe, Cambonie Gilles, Mesnage Renaud, Dereure Maëlle, Ardouin Olivier, Guignard Thomas, Geneviève David, Barat-Houari Mouna, Willems Marjolaine
机构信息
Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.
Institute of Advanced Biosciences, Centre de recherche UGA, Inserm U 1209, CNRS UMR 5309, Grenoble, France.
出版信息
Eur J Hum Genet. 2022 Sep;30(9):1076-1082. doi: 10.1038/s41431-022-01133-7. Epub 2022 Jun 22.
This monocentric study included fifteen children under a year old in intensive care with suspected monogenic conditions for rapid trio exome sequencing (rES) between April 2019 and April 2021. The primary outcome was the time from blood sampling to rapid exome sequencing report to parents. All results were available within 16 days and were reported to parents in or under 16 days in 13 of the 15 individuals (86%). Six individuals (40%) received a diagnosis with rES, two had a genetic condition not diagnosed by rES. Eight individuals had their care impacted by their rES results, four were discharged or died before the results. This small-scale study shows that rES can be implemented in a regional University hospital with rapid impactful diagnosis to improve care in critically ill infants.
这项单中心研究纳入了2019年4月至2021年4月期间在重症监护室的15名1岁以下疑似单基因疾病的儿童，进行快速三联外显子组测序（rES）。主要结果是从采血到向家长提供快速外显子组测序报告的时间。所有结果在16天内均可获得，15名个体中有13名（86%）在16天内或16天内向家长报告了结果。6名个体（40%）通过rES获得了诊断，2名个体患有未通过rES诊断出的遗传疾病。8名个体的治疗受到rES结果的影响，4名个体在结果出来之前已出院或死亡。这项小规模研究表明，rES可以在地区性大学医院实施，实现快速有效的诊断，以改善危重症婴儿的治疗。
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