ArticleEuropean journal of human genetics : EJHG2025
View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children.
Article in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- From weeks to hours: rapid whole-genome sequencing reduces diagnostic odyssey in Menke-Hennekam syndrome-a case report.Journal of medical case reports · 2026Article
- Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.European journal of human genetics : EJHG · 2026Article
- Rapid NGS Analysis on Google Cloud Platform: Performance Benchmark and User Tutorial.Clinical and translational science · 2025Article
- Summer reading 2025 in EJHG.European journal of human genetics : EJHG · 2025Article
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.