ArticleEuropean journal of human genetics : EJHG2022
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.
Article in European journal of human genetics : EJHG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns.American journal of human genetics · 2025Article
- Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.European journal of human genetics : EJHG · 2024Article
- Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review.NPJ genomic medicine · 2024Review
- Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey.Frontiers in pediatrics · 2024Article
- Editorial: Diagnosis and identification of novel disorders and ultra-rare disorders in science and clinical routine.Frontiers in genetics · 2024Article
- Challenges in the clinical understanding of genetic testing in birth defects and pediatric diseases.Translational pediatrics · 2023Review
- 2022: the year that was in the European Journal of Human Genetics.European journal of human genetics : EJHG · 2023Article
- Guidelines, guidelines everywhere-and still I'm not sure what to do.European journal of human genetics : EJHG · 2022Article
Corrections and comments
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Authors and funding
23 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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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 OpenQuestion graph.