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J Cyst Fibros. 2014 May;13(3):267-74. doi: 10.1016/j.jcf.2013.10.012. Epub 2013 Nov 12.

Cost effectiveness of newborn screening for cystic fibrosis: a simulation study.

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Département de médecine sociale et préventive, Faculté de Médecine, Université Laval, Québec, Québec, Canada.
Département de génie électrique, Faculté des Sciences et de génie, Université Laval, Québec, Québec, Canada.
Département de pédiatrie, Centre hospitalier universitaire(CHU) de Québec, Québec, Québec, Canada.
Department of Medicine, Faculty of Medicine, McGill University, Montréal, Quebec, Canada.
Département de pédiatrie, Centre hospitalier universitaire Ste Justine, Montréal, Québec, Canada.
Département de biologie moléculaire, biochimie médicale et pathologie, Université Laval, Québec, Québec, Canada.



Early detection of cystic fibrosis (CF) by newborn screening (NBS) reduces the rate of avoidable complications. NBS protocols vary by jurisdiction and the cost effectiveness of these different protocols is debated.


To compare the cost effectiveness of various CF NBS options.


A Markov model was built to simulate the cost effectiveness of various CF-NBS options for a hypothetical CF-NBS program over a 5-year time horizon assuming its integration into an existing universal NBS program. NBS simulated options were based on a combination of tests between the two commonly used immunoreactive trypsinogen (IRT) cutoffs (96th percentile and 99.5th percentile) as first tier tests, and, as a second tier test, either a second IRT, pancreatic-associated protein (PAP) or CFTR mutation panels. CFTR mutation panels were also considered as an eventual third tier test. Data input parameters used were retrieved from a thorough literature search. Outcomes considered were the direct costs borne by the Quebec public health care system and the number of cases of CF detected through each strategy, including the absence of screening option.


IRT-PAP with an IRT cutoff at the 96th percentile is the most favorable option with a ratio of CAD$28,432 per CF case detected. The next most favorable alternative is the IRT1-IRT2 option with an IRT1 cutoff at the 96th percentile. The no-screening option is dominated by all NBS screening protocols considered. Results were robust in sensitivity analyses.


This study suggests that NBS for cystic fibrosis is a cost-effective strategy compared to the absence of NBS. The IRT-PAP newborn screening algorithm with an IRT cutoff at the 96th percentile is the most cost effective NBS approach for Quebec.


CFTR; Cost effectiveness; Cystic fibrosis; Immune-reactive trypsinogen (IRT); Newborn screening; Pancreatic-associated protein (PAP); Simulation

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