[A short-term diagnostic and economic impact model of neonatal screening for cystic fibrosis]

Abstract

Background: Screening for cystic fibrosis (CF) is currently not a part of the neonatal screening program in Germany, but its implementation is being debated. The aim of this study was to model the short-term diagnostic and economic consequences of the implementation of such a screening.

Patients: Cohort of all newborns in Germany per year.

Methods: In total, 3 screening strategies were evaluated by decision modelling. The 3 screening protocols compared were alternative combinations of IRT- and DNA-testing with a final sweat test.

Results: All modelled screening strategies show a comparable diagnostic yield (171-175 CF-cases per year). There is a tendency of slightly higher sensitivity and shorter time to diagnosis for the "IRT-DNA with failsafe" protocol. In comparison to other strategies, the total number of screening-related visits for this protocol is lower, whereas the amount of sweat tests is the highest. All screening strategies are comparable in terms of avoided cases of extremely low height- or weight-for-age (37-38 and 13-14 cases, respectively). The incremental annual diagnostic costs (with deducted diagnostic costs without screening) are 1.13 to 1.16 million EUR. After 3 years of model runtime there is a nearly neutral total budget impact of screening (diagnostic and treatment costs) per cohort.

Conclusion: All screening strategies lead to a considerable reduction of time to diagnosis at acceptable financial expenditures. The findings of this study broaden the current basis for discussion regarding the implementation of cystic fibrosis screening in Germany.