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Navigating ethical, legal and social implications in genomic newborn screening

Nature Reviews Genetics volume 27, pages 265–266 (2026)Cite this article

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The implementation of genomic newborn screening (gNBS) poses myriad ethical, legal and social implications (ELSI) that require a public health ethics framework. Policy tools are needed to aid gNBS implementers in navigating key strategic ELSI questions to optimize implementation and realize the benefits of gNBS.

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References

  1. Stark, Z. & Scott, R. H. Genomic newborn screening for rare diseases. Nat. Rev. Genet. 24, 755–766 (2023).

    Article  CAS  PubMed  Google Scholar 

  2. Minten, T. et al. Data-driven consideration of genetic disorders for global genomic newborn screening programs. Genet. Med. 27, 101443 (2025).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Phillips, A., Siermann, M., Claesen-Bengtson, Z., Jackson, L. & Wright, C. F. What do we mean by actionability? Examining a key criterion in genomic prenatal and newborn screening. Genet. Med. 28, 101624 (2025).

    Article  PubMed  Google Scholar 

  4. Knoppers, B. M., Bonilha, A. E., Laberge, A.-M., Ahmed, A. & Newson, A. J. Genomic sequencing in newborn screening: balancing consent with the right of the asymptomatic at-risk child to be found. Eur. J. Hum. Genet. 33, 182–188 (2025).

    Article  PubMed  Google Scholar 

  5. Abbasi, M., Majdzadeh, R., Zali, A., Karimi, A. & Akrami, F. The evolution of public health ethics frameworks: systematic review of moral values and norms in public health policy. Med. Health Care Philos. 21, 387–402 (2018).

    Article  PubMed  Google Scholar 

  6. Watts, G., Otlowski, M., Banks, R. & Newson, A. J. Three ethical approaches to expanding newborn screening through genomics: a critical comparative analysis. BMC Med. Ethics 26, 167 (2025).

    Google Scholar 

  7. Horton, R. et al. Challenges of using whole genome sequencing in population newborn screening. BMJ 384, e077060 (2024).

    Article  PubMed  Google Scholar 

  8. Douglas, C. M. W., van El, C. G., Faulkner, A. & Cornel, M. C. Governing biological material at the intersection of care and research: the use of dried blood spots for biobanking. Croat. Med. J. 53, 390–397 (2012).

    Article  PubMed  PubMed Central  Google Scholar 

  9. Lewis, M. H., Goldenberg, A., Anderson, R., Rothwell, E. & Botkin, J. State laws regarding the retention and use of residual newborn screening blood samples. Pediatrics 127, 703–712 (2011).

    Article  PubMed  PubMed Central  Google Scholar 

  10. Brown, G. et al. Genomic newborn screening: a scoping review of the field’s evolution and associated ethical, legal, and social implications. Preprint at SSRN https://doi.org/10.2139/ssrn.5934255 (2025).

Download references

Acknowledgements

The authors acknowledge other members of the GA4GH genomic newborn screening working group, in particular A. Pichini, for their input to the policy tool.

Author information

Authors and Affiliations

  1. Mass General Brigham, Boston, MA, USA

    Anna C. F. Lewis, Robert Green & Loren Walker

  2. Harvard Medical School, Boston, MA, USA

    Anna C. F. Lewis & Robert Green

  3. Broad Institute, Boston, MA, USA

    Anna C. F. Lewis & Robert Green

  4. Wellcome Genome Campus, Hinxton, UK

    Gemma Brown

  5. Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael’s Hospital, Unity Health Toronto, Toronto, Ontario, Canada

    Yvonne Bombard

  6. Institute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, Ontario, Canada

    Yvonne Bombard

  7. Our Future Health, London, UK

    Arzoo Ahmed

  8. Leicester Law School, University of Leicester, Leicester, UK

    Mutiat Afolabi

  9. South African Medical Research Council Bioinformatics Unit, South African National Bioinformatics Institute, University of the Western Cape, Bellville, South Africa

    Anja Bedeker

  10. Department of Human Genetics, CHU Liege, University of Liege, Liege, Belgium

    François Boemer

  11. Nationwide Children’s Hospital & The Ohio State University College of Medicine, Columbus, OH, USA

    Bimal Chaudhari

  12. Murdoch Children’s Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia

    John Christodoulou

  13. SickKids Research Institute, Toronto, Ontario, Canada

    Ziyi Dai

  14. University of Toronto, Toronto, Ontario, Canada

    Ziyi Dai

  15. Genomics England, London, UK

    Harriet Etheredge

  16. University of British Columbia, Vancouver, British Columbia, Canada

    Jan Friedman

  17. Connetics Consulting, Minneapolis, MN, USA

    Amy Gaviglio

  18. Case Western Reserve University, School of Medicine, Cleveland, OH, USA

    Aaron Goldenberg

  19. International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Queretaro, Mexico

    Claudia Gonzaga-Jauregui

  20. Ariadne Labs, Boston, MA, USA

    Robert Green

  21. University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA

    Elizabeth Jalazo

  22. Office of Data Sharing, National Cancer Institute, Rockville, MD, USA

    Subhashini Jagu

  23. Genetics service, KK Women’s and Children’s Hospital, Singapore, Singapore

    Saumya Shekhar Jamuar & Teck Wah Ting

  24. SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore

    Saumya Shekhar Jamuar

  25. Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, Melbourne, Victoria, Australia

    Anubhav Kaphle

  26. Centre of Genomics and Policy, McGill University, Montreal, Quebec, Canada

    Bartha Maria Knoppers

  27. Sydney Health Ethics, Sydney School of Public Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia

    Ainsley Newson

  28. Faculty of Law, McGill University, Montreal, Quebec, Canada

    Dimitri Patrinos

  29. Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK

    Amicia Phillips

  30. Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA

    Vasiliki Rahimzadeh

  31. Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia

    Zornitza Stark

  32. School of Medicine, Deakin University, Waurn Ponds, Victoria, Australia

    Danya Vears

  33. Loyola University Chicago, Chicago, IL, USA

    Loren Walker

Authors
  1. Anna C. F. Lewis
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  2. Gemma Brown
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  3. Yvonne Bombard
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Consortia

The GA4GH Working Group on genomic newborn screening

  • Anna C. F. Lewis
  • , Gemma Brown
  • , Yvonne Bombard
  • , Arzoo Ahmed
  • , Mutiat Afolabi
  • , Anja Bedeker
  • , François Boemer
  • , Bimal Chaudhari
  • , John Christodoulou
  • , Ziyi Dai
  • , Harriet Etheredge
  • , Jan Friedman
  • , Amy Gaviglio
  • , Aaron Goldenberg
  • , Claudia Gonzaga-Jauregui
  • , Robert Green
  • , Elizabeth Jalazo
  • , Subhashini Jagu
  • , Saumya Shekhar Jamuar
  • , Anubhav Kaphle
  • , Bartha Maria Knoppers
  • , Ainsley Newson
  • , Dimitri Patrinos
  • , Amicia Phillips
  • , Vasiliki Rahimzadeh
  • , Zornitza Stark
  • , Teck Wah Ting
  • , Danya Vears
  •  & Loren Walker

Corresponding author

Correspondence to Anna C. F. Lewis.

Ethics declarations

Competing interests

Y.B. is co-founder of Genetics Adviser. The other authors declare no competing interests.

Additional information

Related links

Global Alliance for Genomics and Health: https://www.ga4gh.org/about-us/

GA4GH policy tool: https://www.ga4gh.org/document/genomic-sequencing-in-newborn-screening-policy-tool/

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Lewis, A.C.F., Brown, G., The GA4GH Working Group on genomic newborn screening. et al. Navigating ethical, legal and social implications in genomic newborn screening. Nat Rev Genet 27, 265–266 (2026). https://doi.org/10.1038/s41576-026-00936-4

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  • DOI: https://doi.org/10.1038/s41576-026-00936-4

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