Wales Infants’ and childreN’s Genome Service (WINGS): providing rapid genetic diagnoses for unwell children

IntroductionThis study reviews the first 3 years of delivery of the first National Health Service (NHS)-commissioned trio rapid whole genome sequencing (rWGS) service for acutely unwell infants and children in Wales.MethodsDemographic and phenotypic data were prospectively collected as patients and...

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Bibliographic Details
Published in:Archives of disease in childhood 2024-05, Vol.109 (5), p.409-413
Main Authors: Sloper, Emily, Jezkova, Jana, Thomas, Joanne, Dawson, Kestra, Halstead, Joseph, Gardner, Jennifer, Burke, Katherine, Oruganti, Sivakumar, Calvert, Jennifer, Evans, Jennifer, Anderson, Sarah, Corrin, Sian, Pottinger, Caroline, Murch, Oliver
Format: Article
Language:English
Subjects:
Children
Congenital diseases
Data Analysis
Eligibility
Epilepsy
Genes
genetics
Genomes
Genomics
Genotype & phenotype
Health care
Health services
Hospitals
Immune system
Infants
Intensive care
intensive care units, neonatal
intensive care units, paediatric
Mainstreaming
Medical diagnosis
Medical Services
Metabolism
Neonates
Newborn babies
Original research
Patients
Pediatrics
Phenotypes
Referral
technology
Whole genome sequencing
Young Children
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Summary:IntroductionThis study reviews the first 3 years of delivery of the first National Health Service (NHS)-commissioned trio rapid whole genome sequencing (rWGS) service for acutely unwell infants and children in Wales.MethodsDemographic and phenotypic data were prospectively collected as patients and their families were enrolled in the Wales Infants’ and childreN’s Genome Service (WINGS). These data were reviewed alongside trio rWGS results.ResultsFrom April 2020 to March 2023, 82 families underwent WINGS, with a diagnostic yield of 34.1%. The highest diagnostic yields were noted in skeletal dysplasias, neurological or metabolic phenotypes. Mean time to reporting was 9 days.ConclusionThis study demonstrates that trio rWGS is having a positive impact on the care of acutely unwell infants and children in an NHS setting. In particular, the study shows that rWGS can be applied in an NHS setting, achieving a diagnostic yield comparable with the previously published diagnostic yields achieved in research settings, while also helping to improve patient care and management.
ISSN:0003-9888
1468-2044
DOI:10.1136/archdischild-2023-326579