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Exploring the benefits, harms and costs of genomic newborn screening for rare diseases

Nature Medicine volume 30, pages 1823–1825 (2024)Cite this article

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The prospect of genomic screening in newborns attracts both hype and criticism, but carefully designed, large-scale, prospective research studies are the only way to generate the data needed for its rigorous evaluation.

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References

  1. Stark, Z. & Scott, R. H. Nat. Rev. Genet. 24, 755–766 (2023).

    Article  CAS  PubMed  Google Scholar 

  2. Lancet 402, 265 (2023).

  3. Turnbull, C. et al. Lancet 403, 583–586 (2024).

    Article  CAS  PubMed  Google Scholar 

  4. Smedley, D. et al. N. Engl. J. Med. 385, 1868–1880 (2021).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Stark, Z. et al. Am. J. Hum. Genet. 110, 419–426 (2023).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Mallett, A., Stark, Z., Fehlberg, Z., Best, S. & Goranitis, I. Hum. Genomics 17, 75 (2023).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Phillips, K. A., Douglas, M. P., Wordsworth, S., Buchanan, J. & Marshall, D. A. BMJ Glob. Health 6, e004415 (2021).

    Article  PubMed  PubMed Central  Google Scholar 

  8. Stark, Z. et al. Am. J. Hum. Genet. 104, 13–20 (2019).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Lunke, S. et al. Nat. Med. 29, 1681–1691 (2023).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Gunter, C. & Green, E. D. Am. J. Hum. Genet. 110, 1829–1831 (2023).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Kingsmore, S. F. et al. Am. J. Hum. Genet. 109, 1605–1619 (2022).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Frieden, T. R. N. Engl. J. Med. 377, 465–475 (2017).

    Article  PubMed  Google Scholar 

  13. Regier, D. A. et al. NPJ Precis. Oncol. 6, 76 (2022).

    Article  PubMed  PubMed Central  Google Scholar 

  14. National Institute for Health and Care Excellence. NICE https://www.nice.org.uk/corporate/ecd9/chapter/overview (2022).

  15. Cookson, R., Griffin, S., Norheim, O. F., Culyer, A. J. & Chalkidou, K. Value Health 24, 118–120 (2021).

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK

    Emma L. Baple

  2. Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK

    Emma L. Baple

  3. Great Ormond Street Hospital for Children, London, UK

    Richard H. Scott

  4. UCL Great Ormond Street Institute of Child Health, London, UK

    Richard H. Scott

  5. Genomics England, London, UK

    Richard H. Scott

  6. Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK

    Siddharth Banka

  7. Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK

    Siddharth Banka

  8. Health Economics and Policy Research Unit, Wolfson Institute of Population Health, Queen Mary University of London, London, UK

    James Buchanan

  9. Genetic Alliance UK, London, UK

    Louise Fish

  10. Unique–Rare Chromosome Disorder Support Group, Oxted, UK

    Sarah Wynn

  11. Faculty of Philosophy, Oxford Uehiro Centre for Practical Ethics, University of Oxford, Oxford, UK

    Dominic Wilkinson

  12. Murdoch Children’s Research Institute, Melbourne, Victoria, Australia

    Dominic Wilkinson & Zornitza Stark

  13. John Radcliffe Hospital, Oxford University NHS Foundation Trust, Oxford, UK

    Dominic Wilkinson

  14. Centre for Biomedical Ethics, National University of, Singapore, Singapore

    Dominic Wilkinson

  15. Exeter Genomics Laboratory, South West Genomic Laboratory Hub, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK

    Sian Ellard

  16. Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK

    Sian Ellard

  17. Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, 384 Victoria Street, Sydney, New South Wales, Australia

    Daniel G. MacArthur

  18. Centre for Population Genomics, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia

    Daniel G. MacArthur

  19. Australian Genomics, Melbourne, Victoria, Australia

    Zornitza Stark

  20. Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia

    Zornitza Stark

Authors
  1. Emma L. Baple
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  2. Richard H. Scott
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  3. Siddharth Banka
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  4. James Buchanan
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  5. Louise Fish
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  6. Sarah Wynn
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  7. Dominic Wilkinson
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  8. Sian Ellard
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  9. Daniel G. MacArthur
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  10. Zornitza Stark
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Corresponding authors

Correspondence to Emma L. Baple, Richard H. Scott or Zornitza Stark.

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Competing interests

D.G.M. receives consulting fees as advisory board member for GlaxoSmithKline, Insitro and Foresite Labs. J.B. has received travel support from Illumina and consultancy fees from Genomics England.

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Baple, E.L., Scott, R.H., Banka, S. et al. Exploring the benefits, harms and costs of genomic newborn screening for rare diseases. Nat Med 30, 1823–1825 (2024). https://doi.org/10.1038/s41591-024-03055-x

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