Objectives: In 2005, in Ontario, Canada, newborns were only screened for phenylketonuria (PKU) and hypothyroidism. Tandem mass spectrometry (MS/MS) has since been implemented as a new screening technology because it can screen for PKU and many other diseases simultaneously. We estimated the cost-effectiveness of using this technology to expand the Ontario newborn screening program to screen for each disease independently and for hypothetical bundles of up to 21 metabolic diseases.
Methods: We constructed a decision-analytic model to estimate the incremental costs and life-years of survival that can be gained by screening or changing screening technologies. Costs and health benefits were estimated for a cohort of babies born in Ontario in 1 year. Secondary sources and expert opinion were used to estimate the test characteristics, disease prevalence, treatment effectiveness, disease progression rates, and mortality. The London Health Sciences Centre Case Costing Initiative, the Ontario Health Insurance Plan Schedule, and the Ontario Drug Benefits plan formulary were used to estimate costs.
Results: Changing screening technologies, from the Guthrie test to MS/MS, for PKU detection had an incremental cost of $5,500,000 per life-year (LY) gained. We identified no diseases for which the incremental cost of screening for just that disease was less than $100,000 per LY gained. The incremental costs of screening ranged from $222,000 (HMG-CoA lyase deficiency) to $142,500,000 (glutaric acidemia type II) per LY gained. Screening for a bundle of diseases including PKU and the 14 most cost-effective diseases to screen for cost less than $70,000 per LY gained, and the incremental cost-effectiveness of adding each of the 14 diseases to the bundle was less than $100,000 per LY gained. The incremental cost of adding the 15th most cost-effective disease was $309,400 per LY gained.
Conclusions: Early diagnosis and treatment of metabolic disease is important to reduce disease severity and delay or prevent the onset of the disease. Screening at birth reduces the morbidity, mortality, and social burden associated with the irreversible effects of disease on the population. Our analysis suggests that the cost-efficiencies gained by using MS/MS to screen for bundles of diseases rather than just one disease are sufficient to warrant consideration of an expanded screening program. It is, however, not cost-effective to screen for all diseases that can be screened for using this technology.