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Monday, 16 October 2006 - 3:00 PM


Lauren E. Cipriano, BSc., BA, University of Western Ontario, London, ON, Canada, C. Anthony Rupar, PhD, University of Western Ontario, London, ON, Canada, and Gregory S. Zaric, PhD, University of Western Ontario, London, ON, Canada.

Purpose Currently, newborns in Ontario are screened for PKU using the Guthrie test. Tandem mass spectrometry (MS/MS) can be used to screen for many inborn errors of metabolism with a single drop of dried blood. Methods We developed a decision-analytic model to estimate the incremental costs, life years of survival (LYs) gained, and incremental cost effectiveness ratio (ICER) of screening for 21 metabolic diseases with MS/MS. Costs and health benefits were estimated for a cohort of babies born in Ontario in one year. Secondary sources and expert opinion were used to estimate the test characteristics, disease prevalence, treatment effectiveness, disease progression rates and severity, and mortality. Costs were estimated using the London Health Sciences Center Case Costing Initiative, the Ontario Health Insurance Plan Schedule, and the Ontario Drug Benefits Plan Formulary. Results Changing screening technologies from the Guthrie test to MS/MS for PKU detection had an ICER of $5,500,000 per LY gained. We did not identify any individual disease for which using MS/MS had an ICER less than $100,000 per LY gained. However, MS/MS can screen for several diseases simultaneously without incurring additional fixed costs. Screening for a bundle of diseases including PKU and 9 other inborn errors of metabolism minimized the ICER of the screening program at $65,400 per LY gained. Screening for PKU and the 14 metabolic diseases that individually have the lowest ICERs resulted in a bundle of tests with an ICER of $68,350. The incremental cost of adding each of the 14 diseases to the bundle was less than $100,000 per LY gained. Adding the 15th most cost effective disease to the bundle had an ICER of over $300,000 per LY gained. Conclusion Early diagnosis and treatment of metabolic diseases is important to reducing or preventing disease severity and delaying the onset of the disease. Screening at birth reduces the morbidity, morality, and social burdens associated with the irreversible effects of disease on the population. Our analysis suggests that in order for an MS/MS screening program to be cost effective it must screen for several diseases. However, it is not cost effective to screen for all possible diseases.

See more of Concurrent Abstracts B: Health Economics and Cost Effectiveness Analysis
See more of The 28th Annual Meeting of the Society for Medical Decision Making (October 15-18, 2006)