This study estimated the cost-effectiveness of expanding the newborn screening program in Ontario using the Tandem Mass Spectrometry (MS/MS) for each disease independently and for adding hypothetical groups of 20 metabolic diseases to the screening of phenylketonuria (PKU). The study demonstrates that it is not cost-effective to screen for a single disease using the MS/MS, nor is it cost-effective to screen for all 21 inherited metabolic disorders. Based on acceptable threshold value of $100,000 per life-year gained, using MS/MS to screen for PKU and 14 metabolic diseases is more cost-effective than screening only for PKU. This evidence is sufficient to warrant consideration of an expanded screening program in Ontario, similar to that of British Columbia, Saskatchewan and Nova Scotia.

Background: Inborn errors of metabolism (IEMs) in children may result in physical or developmental delay, or metabolic crises later in life. Most newborns with IEMs do not have any symptoms. Early diagnosis and screening generally improves mortality and morbidity; including mental retardation, severe neurological disease, and physical deformity. In 2005, in Ontario, Canada, newborns were screened for only phenylketonuria (PKU) and hypothyroidism. Tandem Mass Spectrometry (MS/MS) is a new technology that can be used to screen for PKU and other metabolic disorders in a single analysis within a single specimen. This study evaluated the incremental costs, health benefits, and incremental cost-effectiveness ratio of expanding the newborn screening program in Ontario using MS/MS for each disease independently and for adding hypothetical groups of 20 metabolic diseases.

Methods: This is a cost-effectiveness analysis study using a broad societal perspective. The analysis compared screening for PKU using the Guthrie Bacterial Inhibition Essay versus MS/MS, screening by MS/MS for only PKU and other IEMs independently, as well as a combination of diseases. Cost and life-years of survival associated with a given screening program were estimated for a cohort of infants born in Ontario in 1 year. Cost parameters including screening procedures, hospitalizations, treatments, as well as education and social services were estimated from manufacturers, the London Health Sciences Centre Case Costing Initiative, the Ontario Health Insurance Plan schedule, and the Ontario Drug Benefits plan formulary. All costs were presented in 2004 Canadian dollars. The test characteristics, diseases prevalence, treatment effectiveness, disease progression rates and mortality were calculated from secondary sources and expert opinion. Both costs and outcome were discounted at 3 percent.

Findings: If we changed technology from the Guthrie Bacterial Inhibition Essay to MS/MS for the screening of PKU, we had to pay an additional $5,492,114 million in order to increase newborns' life expectancy of one year. With regard to screening by MS/MS for other IEMs, among 21 metabolic diseases, we would pay the least amount of money ($221,719) for screening for HMG-CoA lyase deficiency, while we would pay the most amount of money ($142,462,687) for Glutaric academia type II (GAII). In case of screening for combination of diseases, if we added 14 diseases to PKU, we had to pay an extra of $68,346 per one life-year gained. Adding 15 diseases with PKU was more likely to be cost-effective because the average cost-effectiveness was still less than Canadian acceptable threshold value ($100,000 per life-year gained). However, we had to pay an additional $309,409 for adding the 15th disease (tyrosinemia type I) to the bundle of diseases.

Conclusions: Changing technologies for screening PKU alone was not cost-effective. However, it was also not cost-effective to screen for all diseases that can be screened by MS/MS. The screening program for PKU and 14 diseases was the most cost-effective intervention. This evidence appears to be enough to support consideration of an expanded screening program in Ontario, similar to that of British Columbia, Saskatchewan and Nova Scotia.

Reference: Cipriano, L.E., Rupar, A., Zaric, G,S. The Cost-effectiveness of Expanding Newborn Screening for up to 21 Inherited Metabolic Disorders Using Tandem Mass Spectrometry: Result from a Decision-analytic Model. Value in Health. 2007; 10 (2): 83-97.

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