Smith, Emma J; Hill, Melissa; Chitty, Lyn S; Morris, Stephen; (2025) Costs and cost-effectiveness of returning secondary findings from genomic sequencing based on the return of additional findings in the 100,000 Genomes Project. Genetics in Medicine , Article 101479. 10.1016/j.gim.2025.101479. (In press).

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Abstract

PURPOSE: To assess costs and cost-effectiveness of returning additional findings from genome sequencing (GS) using data from the 100,000 Genomes Project (100kGP). METHODS: A model-based cost-utility analysis combining yield, consent rates and cost data from the 100kGP with published estimates of downstream costs and quality-adjusted life years (QALYs) expected to accrue over a lifetime, following identification of a pathogenic variant. RESULTS: The cost of returning additional findings to participants in the 100kGP was £7.1m or £81 per participant, with a yield of 0.85% for consented participants. The estimated lifetime incremental cost per participant was £125 and QALYs 0.004, giving an ICER of £28,830. Implementing a policy of returning additional findings is unlikely to be cost-effective (ie, 13%) at a willingness-to-pay threshold of £20,000. A short-term cost of returning findings of £43 per participant or lower (compared to the base case of £81) would result in an ICER of less than £20,000. Alternatively, cost-effectiveness may be improved by returning AFs to younger patient populations. CONCLUSION: Return of additional findings following GS for this group of conditions may not be a cost-effective use of healthcare system resources. Our cost-effectiveness outcomes rely on published estimates and should be validated through long-term follow-up data.

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