Evidence map›Paper›PMID 40410388›Full record

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.

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

Abstract read
In one paragraph

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.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Summer reading 2025 in EJHG.European journal of human genetics : EJHG · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Claire CaillotService de génétique, Hospices Civils de Lyon, Bron, France. claire.caillot@chu-lyon.fr.ORCID 0000-0002-6092-4630
Etienne JavouheyService d'urgences et de réanimation pédiatriques, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France.
Stéphane HaysService de néonatologie et de réanimation néonatale, Hôpital de la Croix-Rousse, Hospices Civils de Lyon, Lyon, France.
Evan GouyService de génétique, Hospices Civils de Lyon, Bron, France.ORCID 0000-0001-7928-754X
Pauline MoninService de génétique, Hospices Civils de Lyon, Bron, France.
Gaetan LescaService de génétique, Hospices Civils de Lyon, Bron, France.ORCID 0000-0001-7691-9492
Damien SanlavilleService de génétique, Hospices Civils de Lyon, Bron, France.ORCID 0000-0001-9939-2849
Nicolas ChatronService de génétique, Hospices Civils de Lyon, Bron, France. nicolas.chatron@chu-lyon.fr.ORCID 0000-0003-0538-0981

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Attitude of Health PersonnelCritical IllnessGenetic TestingHealth PersonnelWhole Genome SequencingChildHumansInfant, NewbornIntensive Care Units, PediatricSurveys and Questionnaires

Identifiers

PMID40410388
PMCPMC12229570

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.