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  • Review Article
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Determining the value of genomics in healthcare

Nature Medicine volume 31, pages 4022–4033 (2025)Cite this article

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Abstract

As genomic sequencing transitions into mainstream healthcare, critically appraising its value is key to informing evidence-based policy, practice and implementation strategies. Assessing the value of genomics is challenging, as traditional evaluation methods and frameworks do not capture many of the outcomes of genomics. This includes the personal value that genomic information provides individuals and family members, and the potential to reuse sequencing data to improve clinical care and drive research. Evaluation is hampered by lack of standardized outcome measures, small sample sizes, and uncertainties arising from the evolving nature of the technology, its applications and associated costs. Complex health system factors further influence real-world utilization and the value of genomic technologies and services within resource-constrained settings. In this Review, we discuss the need for robust yet agile approaches to evaluating genomic technologies that are dynamically informed by real-world data, and we provide examples of emerging methods and best practices. We emphasize the need for a whole-of-system approach and the need to further advance evaluation and implementation methods, to support health systems to sustainably and equitably integrate genomics into clinical care.

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Fig. 1: Valuing the outcomes of genomics using stated preference methods.

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Authors and Affiliations

  1. Economics of Genomics and Precision Medicine Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia

    Ilias Goranitis

  2. Australian Genomics, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia

    Ilias Goranitis, Stephanie Best & Zornitza Stark

  3. Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada

    Robin Z. Hayeems

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

    Robin Z. Hayeems

  5. Precision Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA, USA

    Hadley Stevens Smith

  6. Center for Bioethics, Harvard Medical School, Boston, MA, USA

    Hadley Stevens Smith

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

    James Buchanan

  8. National Institute for Health Research, Barts Biomedical Research Centre, Queen Mary University of London, London, UK

    James Buchanan

  9. Cancer Control Research, BC Cancer Research Institute, Vancouver, British Colombia, Canada

    Deirdre Weymann & Dean A. Regier

  10. Faculty of Health Sciences, Simon Fraser University, Burnaby, British Colombia, Canada

    Deirdre Weymann

  11. School of Population and Public Health, Faculty of Medicine, University of British Columbia, Vancouver, British Colombia, Canada

    Dean A. Regier

  12. Division of Clinical & Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada

    Michael P. Mackley

  13. Genomics England, London, UK

    Richard H. Scott

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

    Richard H. Scott

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

    Richard H. Scott

  16. National Health Service England, London, UK

    Sue L. Hill

  17. Hong Kong Genome Institute, Hong Kong, China

    Brian H. Y. Chung

  18. Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China

    Brian H. Y. Chung & Claudia C. Y. Chung

  19. Melbourne School of Health Sciences, University of Melbourne, Melbourne, Victoria, Australia

    Stephanie Best

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

    Emma L. Baple

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

    Emma L. Baple

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

    Zornitza Stark

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

    Zornitza Stark

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  1. Ilias Goranitis
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  2. Robin Z. Hayeems
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  14. Zornitza Stark
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Correspondence to Ilias Goranitis or Zornitza Stark.

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Goranitis, I., Hayeems, R.Z., Smith, H.S. et al. Determining the value of genomics in healthcare. Nat Med 31, 4022–4033 (2025). https://doi.org/10.1038/s41591-025-04061-3

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