PT  - JOURNAL ARTICLE
AU  - Sloper, Emily
AU  - Jezkova, Jana
AU  - Thomas, Joanne
AU  - Dawson, Kestra
AU  - Halstead, Joseph
AU  - Gardner, Jennifer
AU  - Burke, Katherine
AU  - Oruganti, Sivakumar
AU  - Calvert, Jennifer
AU  - Evans, Jennifer
AU  - Anderson, Sarah
AU  - Corrin, Sian
AU  - Pottinger, Caroline
AU  - Murch, Oliver
TI  - Wales Infants’ and childreN’s Genome Service (WINGS): providing rapid genetic diagnoses for unwell children
AID  - 10.1136/archdischild-2023-326579
DP  - 2024 May 01
TA  - Archives of Disease in Childhood
PG  - 409--413
VI  - 109
IP  - 5
4099  - http://adc.bmj.com/content/109/5/409.short
4100  - http://adc.bmj.com/content/109/5/409.full
SO  - Arch Dis Child2024 May 01; 109
AB  - Introduction This 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.Methods Demographic 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.Results From 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.Conclusion This 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.No data are available. All data relevant to the study are included in the article or uploaded as supplemental information.