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Cost-effectiveness of a gene sequencing test for Alzheimer’s disease in Ontario

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Abstract

Alzheimer’s f disease (AD) affects approximately 250,000 Ontarians, a number that is expected to double by 2040. The Ontario Neurodegenerative Disease Research Initiative has developed an in-province genetic test (ONDRISeq), which currently runs in Ontario in an experimental capacity. The aim of this study is to estimate the costs and health outcomes associated with ONDRISeq to diagnose AD relative to out-of-country (OOC) testing (status quo). A cost-utility analysis was developed for a hypothetical cohort of 65-year-olds at risk of AD in Ontario over a 25-year time horizon. Costs and health outcomes (quality-adjusted life years (QALYs)) were assessed from a healthcare payer perspective. Cost-effectiveness was assessed with a $50,000 cost-effectiveness threshold. Probabilistic sensitivity analyses were conducted to evaluate parameter uncertainty. ONDRISeq saved $54 per patient relative to OOC testing and led to a small QALY gain in the base case (0.0014 per patient). Results were most sensitive to testing costs, uptake rates, and treatment efficacy. ONDRISeq represented better value for money relative to OOC testing throughout 75% of 10,000 probabilistic iterations. Using ONDRISeq is expected to provide health system cost savings. Switching to ONDRISeq for AD genetic testing in Ontario would be dependent on the ability to accommodate the expected testing volumes.

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Acknowledgements

The authors would like to thank Dr. Martin Somerville, the ONDRI scientists and clinicians (ondri.ca), and representatives from the MOH for contributing their expertise to this project. This research was conducted with the support of the Ontario Brain Institute, an independent nonprofit corporation, funded partially by the Ontario government. The opinions, results and conclusions are those of the authors and no endorsement by the Ontario Brain Institute is intended or should be inferred.

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NI, DT, and SM designed the study, analyzed the results, and drafted this manuscript. RHH and BC consulted on study design, provided feedback and guidance on analyses, and critically reviewed the manuscript. AAD, JFR, and RAH were consulted on the application of ONDRISeq and provided background on genetic concepts. All authors read and approved the final manuscript.

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Correspondence to Nicolas Iragorri.

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The authors declare no competing interests.

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Iragorri, N., Toccalino, D., Mishra, S. et al. Cost-effectiveness of a gene sequencing test for Alzheimer’s disease in Ontario. J Community Genet 14, 135–147 (2023). https://doi.org/10.1007/s12687-022-00619-7

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  • DOI: https://doi.org/10.1007/s12687-022-00619-7

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