Cost-Effectiveness of Alternative Diagnostic Testing Pathways with Whole Exome Sequencing (WES) in a Rare Disease Patient Population: The Canadian Care-for-Rare SOLVE (SOLVE) Multi-Centre Observational Cohort
Author(s)
Degeling K1, Grazziotin Lago L2, Hayeems RZ3, Boycott KM4, Bernier FP2, Mendoza-Londono R5, Seeger TA6, Marshall D2
1Lumen Value & Access – a Healthcare Consultancy Group Company, New York, NY, USA, 2University of Calgary, Calgary, AB, Canada, 3Institute of Health Policy, Management and Evaluation, The University of Toronto, Toronto, ON, Canada, 4Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada, 5Department of Pediatrics, The University of Toronto, Toronto, ON, Canada, 6Cumming School of Medicine, University of Calgary, Calgary, AB, Canada
Background: Patients suspected of having a rare genetic disease often experience lengthy and costly diagnostic testing pathways. Our objective was to determine the time-to-diagnosis, associated testing costs, and cost-effectiveness for patients with rare disease of suspected genetic etiology who received WES testing at alternative places in the diagnostic pathway. Methods: We designed a discrete event simulation model of the diagnostic pathway, with the report of the first test result as starting point. We defined and populated the simulation based on data from the electronic medical records for 169 patients from our C4R-SOLVE cohort. Five alternative pathways were modelled: noWES, and WES as the 1st, 2nd, 3rd, or 4th test (Tiers 1-4, respectively), where WES was the last test performed. Outcomes included: 1) achieving a diagnostic result as the primary effectiveness measure modelled using logistic regression; 2) time-to-diagnosis modelled using a standard and mixture parametric time-to-event distributions; and 3) patient-level total test costs modelled using empirical distributions. We applied discounting at 1.5% and quantified uncertainty using probabilistic analyses and expert-defined scenario analyses. Results: Compared to molecular and specialized diagnostic tests (noWES), WES increased diagnostic yield from 20% to 42%. WES decreased time-to-diagnosis by 1.9 and -0.1 years, (Tier1 and Tier2, respectively, and increased the time by 0.7 and 1.5 years (Tier3 and Tier4, respectively). Test costs per pathway were CDN$3,289, CDN$2,683, CDN$3,404, CDN$4,512, and CDN$5,298 for No WES, and Tiers1-4, respectively. The incremental cost per additional diagnosis (95% Confidence Interval) was CDN$-2,762 ($-6,305;305), CDN$491 ($-2,395;$3,489), CDN$5,620 ($2,666;$10,052) and CDN$9,321 ($6,579;$14,634) for Tiers 1-4, respectively. The scenario analyses yielded similar results. Conclusions: WES in the diagnostic pathway for patients suspected of having a rare disease can increase the diagnostic yield and reduce the time-to-diagnosis and test costs with the benefits being greater the earlier in the pathway that WES is implemented.
Conference/Value in Health Info
2022-05, ISPOR 2022, Washington, DC, USA
Value in Health, Volume 25, Issue 6, S1 (June 2022)
Code
EE48
Topic
Economic Evaluation
Topic Subcategory
Cost-comparison, Effectiveness, Utility, Benefit Analysis
Disease
Personalized and Precision Medicine, Rare and Orphan Diseases
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