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医疗保健专业人员对超快速基因组测序及其在危重症儿童临床实践中的未来应用的看法。

View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children.

作者信息

Caillot Claire, Javouhey Etienne, Hays Stéphane, Gouy Evan, Monin Pauline, Lesca Gaetan, Sanlaville Damien, Chatron Nicolas

机构信息

Service de génétique, Hospices Civils de Lyon, Bron, France.

Service d'urgences et de réanimation pédiatriques, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France.

出版信息

Eur J Hum Genet. 2025 May 23. doi: 10.1038/s41431-025-01869-y.

Abstract

The clinical utility of ultra-rapid genome sequencing (urGS) in neonatal and paediatric intensive care situations has been demonstrated, and barriers to its implementation in clinical practice studied. A 38-item questionnaire was distributed via medical professional learned societies to identify the views of French healthcare professionals in the field prior to its implementation. Overall, 116 responses were received: 35% from healthcare professionals working in clinical genetics, 19% in laboratory genetics, and 32% in paediatric or neonatal intensive care units (NICU/PICU). Nearly all (97%) respondents agreed that healthcare professionals should receive specific training before a first test order; 94% considered urGS useful, and 97% that the results would likely modify a decision to withdraw life-sustaining treatment. A multidisciplinary approval of the urGS request was considered necessary by 87% of respondents, and multidisciplinary discussion of the result by 84%; joint disclosing of results by a clinical geneticist and NICU/PICU physician was considered ideal for 91% of respondents, and 78% were against additional findings being disclosed at the same time as the result. For 99% of respondents, psychological assistance was crucial after the result. Based on the results, we propose a workflow to facilitate implementation in a broad range of centres.

摘要

超快速基因组测序(urGS)在新生儿和儿科重症监护中的临床应用价值已得到证实,并且其在临床实践中的实施障碍也已得到研究。在实施之前,通过医学专业学术团体分发了一份包含38个条目的问卷,以了解该领域法国医疗保健专业人员的看法。总体而言,共收到116份回复:35%来自临床遗传学领域的医疗保健专业人员,19%来自实验室遗传学领域,32%来自儿科或新生儿重症监护病房(NICU/PICU)。几乎所有(97%)的受访者都认为医疗保健专业人员在首次下达检测指令之前应接受特定培训;94%的受访者认为urGS有用,97%的受访者认为检测结果可能会改变撤销维持生命治疗的决定。87%的受访者认为urGS请求需要多学科批准,84%的受访者认为需要对结果进行多学科讨论;91%的受访者认为由临床遗传学家和NICU/PICU医生联合披露结果是理想的,78%的受访者反对在披露结果的同时披露其他发现。对于99%的受访者来说,检测结果出来后心理援助至关重要。基于这些结果,我们提出了一个工作流程,以促进在广泛的中心实施。

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