Poster Paper: A Homegrown Genomics Sequencing Tool for Alzheimer’s Disease: The Costs and Benefits of Keeping It Close

Thursday, July 23, 2020
Meeting Room 1 (Online Zoom Webinar)

*Names in bold indicate Presenter

Danielle Toccalino1, Nicolas Iragorri1, Sujata Mishra1, Brian Chan2 and Rebecca Hancock Howard1, (1)University of Toronto, (2)KITE – Toronto Rehabilitation Institute


Introduction: Alzheimer’s disease (AD) affects approximately 250,000 Ontarians, which is expected to double by 2040. Genetics are a relevant risk factor in the development of AD. Genetic testing facilitating early diagnosis, allowing patients to make informed life and treatment choices. Currently, AD genetic testing for Ontarians is sent out-of-country (OOC). The Ontario Neurodegenerative Disease Research Initiative has developed an in-province alternative called ONDRISeq.

Objective: To estimate the costs and health benefits associated with implementing ONDRISeq to identify AD in Ontario relative to the status quo (OOC testing) .

Methods: A cost-utility analysis using a Markov model was developed following a hypothetical cohort of 65-year-olds at risk of AD in Ontario over a 25-year time horizon. The Ministry of Health and Long-Term Care’s perspective was taken.

Results: Screening for AD with ONDRISeq was cost saving compared to OOC testing. ONDRISeq is expected to save between $50-$200 per patient and reduce time to diagnosis by half, relative to the status quo. Results were most sensitive to testing costs and treatment efficacy in delaying AD progression.

Conclusion: Repatriating AD genetic testing using ONDRISeq rather than the OOC status quo is expected to provide health system cost savings. Capacity is an important factor when considering repatriating a genetic test. ONDRISeq currently runs in an experimental capacity, suggesting full implementation is possible provided the volume can be accommodated. This juxtaposition of cost with health outcomes is a useful tool for policy makers to assess how best to allocate funds in a context with restricted resources.