Determining the value of genomics in healthcare
Goranitis I, Hayeems R, Smith HS, Buchanan J, et al. (2025). ‘Determining the value of genomics in healthcare’, Nature Medicine. doi: 10.1038/s41591-025-04061-3
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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 standardised 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 utilisation and the value of genomic technologies and services within resource-constrained settings.