Cost effectiveness of newborn screening for cystic fibrosis: A simulation study

Nshimyumukiza, Léon; Bois, Antoine; Daigneault, Patrick; Lands, Larry C.; Laberge, Anne‐Marie; Fournier, Diane; Duplantie, Julie; Giguère, Yves; Gekas, Jean; Gagné, Christian; Rousseau, François; Reinharz, Daniel

doi:10.1016/j.jcf.2013.10.012

Cited by 29 publications

(38 citation statements)

References 28 publications

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“…The California findings are consistent with those modeled in a cost-effectiveness study of 4 different CF NBS algorithms. 30 However, 2 recent studies 31,32 suggest that IRT/pancreatitis-associated protein algorithms may be even more cost-effective than California's 3-step algorithm.…”

Section: Resultsmentioning

confidence: 99%

Newborn Screening for Cystic Fibrosis in California

et al. 2015

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, on behalf of the California Cystic Fibrosis Newborn Screening Consortium abstract OBJECTIVES: This article describes the methods used and the program performance results for the first 5 years of newborn screening for cystic fibrosis (CF) in California.METHODS: From July 16, 2007, to June 30, 2012, a total of 2 573 293 newborns were screened for CF by using a 3-step model: (1) measuring immunoreactive trypsinogen in all dried blood spot specimens; (2) testing 28 to 40 selected cystic fibrosis transmembrane conductance regulator (CFTR) mutations in specimens with immunoreactive trypsinogen values $62 ng/mL (top 1.6%); and (3) performing DNA sequencing on specimens found to have only 1 mutation in step 2. Infants with $2 mutations/variants were referred to CF care centers for diagnostic evaluation and follow-up. Infants with 1 mutation were considered carriers and their parents offered telephone genetic counseling.RESULTS: Overall, 345 CF cases, 533 CFTR-related metabolic syndrome cases, and 1617 carriers were detected; 28 cases of CF were missed. Of the 345 CF cases, 20 (5.8%) infants were initially assessed as having CFTR-related metabolic syndrome, and their CF diagnosis occurred after age 6 months (median follow-up: 4.5 years). Program sensitivity was 92%, and the positive predictive value was 34%. CF prevalence was 1 in 6899 births. A total of 303 CFTR mutations were identified, including 78 novel variants. The median age at referral to a CF care center was 34 days (18 and 37 days for step 2 and 3 screening test-positive infants, respectively). CONCLUSIONS:The 3-step model had high detection and low false-positive levels in this diverse population. WHAT'S KNOWN ON THIS SUBJECT:Several newborn screening models for cystic fibrosis (CF) exist, including DNA-based models that use mutation panels. There is limited experience with models (such as used in California) that include comprehensive DNA sequence testing methods as part of newborn screening.WHAT THIS STUDY ADDS: California' s 3-step newborn screening model for CF showed high efficiency, sensitivity, and positive predictive value. More than 300 mutations were found, reflecting the state' s diverse population. Some CF transmembrane conductance regulator-related metabolic syndrome cases converted to CF over time.

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Section: Resultsmentioning

confidence: 99%

Newborn Screening for Cystic Fibrosis in California

et al. 2015

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“…A more favourable CER of IRT-DNA was observed earlier [9], but we included more cost elements (organisation of CF-screening, genetic counselling) and had higher cost estimates. A recent simulation study also showed that IRT-PAP is the most cost-effective strategy [28].…”

Section: Discussionmentioning

confidence: 99%

Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data

Ploeg

Marle

Langen

et al. 2015

Journal of Cystic Fibrosis

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“…Another important aspect of our comprehensive, longitudinal study is informing estimates for future cost‐effectiveness studies involving CF populations. The annual cost of care by age‐range, types of care, clinical risk factors, and utilization class, and the uncertainty of the estimates can all be used in conjunction with distributional assumptions to account for uncertainty in economic evaluations of newborn screening and relatively new therapies, such as dornase and CFTR modulator therapy …”

Section: Discussionmentioning

confidence: 99%

Innovative assessment of inpatient and pulmonary drug costs for children with cystic fibrosis

2016

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This study provides more accurate longitudinal estimates of CF care costs throughout childhood and shows that increasing age, pancreatic insufficiency, use of dornase, and hospitalizations are key determinants of cost. These estimates can be included in evaluations of the cost-effectiveness of new, highly expensive treatments being introduced for any CF population. Pediatr Pulmonol. 2016;51:1295-1303. © 2016 Wiley Periodicals, Inc.

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Cost effectiveness of newborn screening for cystic fibrosis: A simulation study

Abstract: 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.

Cited by 29 publications

References 28 publications

Newborn Screening for Cystic Fibrosis in California

Newborn Screening for Cystic Fibrosis in California

Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data

Innovative assessment of inpatient and pulmonary drug costs for children with cystic fibrosis

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