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Wales Infants' and childreN's Genome Service (WINGS): providing rapid genetic diagnoses for unwell children
Emily Sloper1, Jana Jezkova2, Joanne Thomas3
1All Wales Medical Genomics Service, University Hospital of Wales Healthcare NHS Trust, Cardiff, UK emilysloper@nhs.net.
Insights
Rapid whole genome sequencing (rWGS) in the NHS significantly aids diagnosing acutely unwell infants and children. This service achieved a 34.1% diagnostic yield, improving patient care and management.
Area of Science:
- Genomics
- Pediatrics
- Clinical Diagnostics
Background:
- The National Health Service (NHS) commissioned a trio rapid whole genome sequencing (rWGS) service in Wales.
- This service targets acutely unwell infants and children.
Purpose of the Study:
- To review the initial 3 years of the NHS-commissioned trio rWGS service.
- To assess the diagnostic yield and impact on patient care.
Main Methods:
- Prospective collection of demographic and phenotypic data through the Wales Infants' and childreN's Genome Service (WINGS).
- Review of patient data alongside trio rWGS results.
Main Results:
- 82 families utilized the WINGS service between April 2020 and March 2023.
- A diagnostic yield of 34.1% was achieved, with highest yields in skeletal dysplasias, neurological, and metabolic conditions.
- The average reporting time was 9 days.
Conclusions:
- Trio rWGS is positively impacting care for acutely unwell children in an NHS setting.
- The service demonstrates feasibility and diagnostic yields comparable to research settings.
- rWGS improves patient management and care within the NHS.
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.
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