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Original research
Wales Infants’ and childreN’s Genome Service (WINGS): providing rapid genetic diagnoses for unwell children
  1. Emily Sloper1,
  2. Jana Jezkova1,
  3. Joanne Thomas2,
  4. Kestra Dawson3,
  5. Joseph Halstead1,
  6. Jennifer Gardner1,
  7. Katherine Burke4,
  8. Sivakumar Oruganti5,6,
  9. Jennifer Calvert7,
  10. Jennifer Evans8,
  11. Sarah Anderson1,
  12. Sian Corrin1,
  13. Caroline Pottinger1,
  14. Oliver Murch1
  1. 1 All Wales Medical Genomics Service, University Hospital of Wales Healthcare NHS Trust, Cardiff, UK
  2. 2 Faculty of Life Science and Education, University of South Wales, Pontypridd, UK
  3. 3 School of Medicine, Cardiff University, Cardiff, UK
  4. 4 Neonatal Intensive Care Unit, Singleton Hospital, Swansea, UK
  5. 5 Paediatric Critical Care Unit, Noah's Ark Children's Hospital for Wales, Cardiff, UK
  6. 6 College of Biomedical and Life Sciences, Cardiff University, Cardiff, UK
  7. 7 Neonatal Intensive Care Unit, University Hospital of Wales Healthcare NHS Trust, Cardiff, UK
  8. 8 Child Health, Children's Hospital for Wales, Cardiff, UK
  1. Correspondence to Dr Emily Sloper, All Wales Medical Genomics Service, University Hospital of Wales Healthcare NHS Trust, Cardiff, UK; emilysloper{at}nhs.net

Abstract

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.

  • genetics
  • intensive care units, paediatric
  • intensive care units, neonatal
  • technology

Data availability statement

No data are available. All data relevant to the study are included in the article or uploaded as supplemental information.

https://doi.org/10.1136/archdischild-2023-326579

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    Data availability statement

    No data are available. All data relevant to the study are included in the article or uploaded as supplemental information.

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    Footnotes

    • Contributors OM and ES were responsible for the design and development of the study. OM, ES, JT, JJ, JH and KD contributed to data acquisition and analysis. All authors were involved in establishment of the rapid whole genome sequencing service. ES, JT and OM drafted the manuscript. All authors revised and approved the final manuscript. OM is the guarantor.

    • Funding JT is funded by the Knowledge and Economy Skills Scholarship (KESS2) in partnership with Genomics Partnership Wales. JJ is supported by a fellowship grant funded by RCBC Wales through Health and Care Research Wales, Welsh Government. This research received no specific grant from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.