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Peer-reviewedLicence not statedYearbook of pediatric endocrinology

Exploring the feasibility, acceptability and impact of genomic newborn screening for rare diseases in England: A study protocol for the Generation Study - Process and Impact Evaluation (Version 2)

  • Celine Lewis1,2
  • Emma Beecham3,4
  • Felicity Boardman5,6
  • Gráinne Brady3,7
  • James P. Buchanan8,9,7
  • Sigrún Eyrúnardóttir Clark3,2
  • Katie Gilchrist3,10
  • Pia Hardelid1,10
  • Amy Hunter11,12
  • Jennifer Jones13,11,14
  • Kerry Leeson‐Beevers15,7
  • Bethany Stafford‐Smith16,6
6 more authors
  • Joachim Tan1,14
  • Cecilia Vindrola‐Padros3,2
  • Martin Vu8,14
  • Wing Han Wu17,16
  • Ania Zylbersztejn1
  • Melissa K. Hill17,16
17 affiliations
  1. 1Population, Policy and Practice, UCL Great Ormond Street Institute of Child Health, London, UK
  2. 2UCL Great Ormond Street Institute of Child Health
  3. 3Rapid Research Evaluation and Appraisal Lab (RREAL), University College London, London, UK
  4. 4Warwick University
  5. 5Warwick Medical School, University of Warwick, Coventry, UK
  6. 6Queen Mary University of London
  7. 7University College London
  8. 8Health Economics and Policy Research Unit (HEPRU), Queen Mary University of London, London, UK
  9. 9National Institute for Health and Care Research Barts Biomedical Research Centre, London, UK
  10. 10Genetic Alliance UK
  11. 11Genetic Alliance UK, London, UK
  12. 12Alstrom Syndrome UK
  13. 13Department of Population Health Sciences, University of Leicester, Leicester, UK
  14. 14Great Ormond Street Hospital for Children NHS Foundation Trust
  15. 15Alström Syndrome UK and Breaking Down Barriers, Torquay, UK
  16. 16NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
  17. 17Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK
Open at sourceDOICite

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Cite

BibTeXRIS
BibTeX
@article{lewis2026exploring,
  title = {{Exploring the feasibility, acceptability and impact of genomic newborn screening for rare diseases in England: A study protocol for the Generation Study - Process and Impact Evaluation (Version 2)}},
  author = {Celine Lewis and Emma Beecham and Felicity Boardman and Gráinne Brady and James P. Buchanan and Sigrún Eyrúnardóttir Clark and Katie Gilchrist and Pia Hardelid and Amy Hunter and Jennifer Jones and Kerry Leeson‐Beevers and Bethany Stafford‐Smith and Joachim Tan and Cecilia Vindrola‐Padros and Martin Vu and Wing Han Wu and Ania Zylbersztejn and Melissa K. Hill},
  journal = {Yearbook of pediatric endocrinology},
  year = {2026},
  month = sep,
  doi = {10.1530/ey.23.15.1},
  url = {https://doi.org/10.1101/2024.05.14.24307295},
}
RIS
TY  - JOUR
TI  - Exploring the feasibility, acceptability and impact of genomic newborn screening for rare diseases in England: A study protocol for the Generation Study - Process and Impact Evaluation (Version 2)
AU  - Celine Lewis
AU  - Emma Beecham
AU  - Felicity Boardman
AU  - Gráinne Brady
AU  - James P. Buchanan
AU  - Sigrún Eyrúnardóttir Clark
AU  - Katie Gilchrist
AU  - Pia Hardelid
AU  - Amy Hunter
AU  - Jennifer Jones
AU  - Kerry Leeson‐Beevers
AU  - Bethany Stafford‐Smith
AU  - Joachim Tan
AU  - Cecilia Vindrola‐Padros
AU  - Martin Vu
AU  - Wing Han Wu
AU  - Ania Zylbersztejn
AU  - Melissa K. Hill
PY  - 2026
DA  - 2026/09/03
JO  - Yearbook of pediatric endocrinology
DO  - 10.1530/ey.23.15.1
UR  - https://doi.org/10.1101/2024.05.14.24307295
SN  - 1662-3991
SN  - 1662-4009
ER  -