Evidence map›Paper›PMID 31172278›Full record

ArticleEuropean journal of pediatrics2019

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.

Alison M Elliott, Christèle du Souich, Anna Lehman, Ilaria Guella, Daniel M Evans, Tara Candido, Leah Tooman, Linlea Armstrong, Lorne Clarke, William Gibson and 14 more

Abstract read
PubMed Publisher
In one paragraph

Article in European journal of pediatrics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed, 3 pooled it
8.8field-weighted citation impact, top 2% of its field
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

48 citing papers in PubMed, 3 syntheses or guidelines pooled it, 87 citations in OpenAlex.

  1. Pooled it
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  12. Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit.Journal of perinatology : official journal of the California Perinatal Association · 2024
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  19. Genomic medicine in neonatal care: progress and challenges.European journal of human genetics : EJHG · 2023
    Review
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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

24 authors at 1 institution in 1 country.

Alison M ElliottDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada. alison.elliott@cw.bc.ca.ORCID http://orcid.org/0000-0002-9896-1314
Christèle du SouichDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Anna LehmanDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Ilaria GuellaCentre for Applied Neurogenetics, University of British Columbia, Vancouver, Canada.
Daniel M EvansCentre for Applied Neurogenetics, University of British Columbia, Vancouver, Canada.
Tara CandidoCentre for Applied Neurogenetics, University of British Columbia, Vancouver, Canada.
Leah ToomanCentre for Applied Neurogenetics, University of British Columbia, Vancouver, Canada.
Linlea ArmstrongDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Lorne ClarkeDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
William GibsonDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Harinder GillDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Pascal M LavoieDivision of Neonatology, Department of Paediatrics, University of British Columbia, Vancouver, Canada.
Suzanne LewisDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Margaret L McKinnonDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Sarah M NikkelDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Millan PatelDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Alfonso SolimanoDivision of Neonatology, Department of Paediatrics, University of British Columbia, Vancouver, Canada.
Anne SynnesDivision of Neonatology, Department of Paediatrics, University of British Columbia, Vancouver, Canada.
Joseph TingDivision of Neonatology, Department of Paediatrics, University of British Columbia, Vancouver, Canada.
Margot van AllenDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Jan ChristilawDepartment of Obstetrics and Gynaecology, University of British Columbia, Vancouver, Canada.
Matthew J FarrerCentre for Applied Neurogenetics, University of British Columbia, Vancouver, Canada.
Jan M FriedmanDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Horacio OsiovichDivision of Neonatology, Department of Paediatrics, University of British Columbia, Vancouver, Canada.
University of British Columbia · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic disorders are one of the leading causes of infant mortality and are frequent in neonatal intensive care units (NICUs). Rapid genome-wide sequencing (GWS; whole genome or exome sequencing (ES)), due to its diagnostic capabilities and immediate impacts on medical management, is becoming an appealing testing option in the NICU setting. RAPIDOMICS was a trio-based rapid ES pilot study of 25 babies with suspected genetic disorders in the BC Women's Hospital NICU. ES and bioinformatic analysis were performed after careful patient ascertainment. Trio analysis was performed using an in-house pipeline reporting variants in known disease-causing genes. Variants interpreted by the research team as definitely or possibly causal of the infant's phenotype were Sanger validated in a clinical laboratory. The average time to preliminary diagnosis was 7.2 days. Sanger validation was pursued in 15 patients for 13 autosomal dominant and 2 autosomal recessive disorders, with an overall diagnostic rate (partial or complete) of 60%.Conclusion: In total, 72% of patients enrolled had a genomic diagnosis achieved through ES, multi-gene panel testing or chromosomal microarray analysis. Among these, there was an 83% rate of significant and immediate impact on medical decision-making directly related to new knowledge of the diagnosis. Health service implementation challenges and successes are discussed. What is Known: • Rapid genome-wide sequencing in the neonatal intensive care setting has a greater diagnostic hit rate and impact on medical management than conventional genetic testing. However, the impact of consultation with genetics and patient ascertainment requires further investigation. What is New: • This study demonstrates the importance of genetic consultation and careful patient selection prior to pursuing exome sequencing (ES). • In total, 15/25 (60%) patients achieved a diagnosis through ES and 18/25 (72%) through ES, multi-gene panel testing or chromosomal microarray analysis with 83% of those having immediate effects on medical management.

Indexed as

Intensive Care Units, NeonatalClinical Decision-MakingCritical IllnessExome SequencingFemaleGenetic CounselingGenetic Diseases, InbornGenetic TestingHumansInfant, NewbornIntensive Care, NeonatalMaleMicroarray AnalysisOutcome Assessment, Health CarePatient SelectionPilot ProjectsChromosomal microarray analysisExome sequencing (ES)Genetic counsellingGenome-wide sequencing (GWS)Health implementationMedical managementMulti-gene panel

Identifiers

PMID31172278
OpenAlexW2953549708

What OpenQuestion holds

Textmetadata
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 OpenQuestion graph.