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Revista de la Facultad de Medicina

Print version ISSN 0120-0011


ANDRADE-CERQUERA, Ernesto  and  DIAZ-ROJAS, Jorge Augusto. Systematic review of studies on cost-effectiveness of cystic fibrosis carrier testing. [online]. 2016, vol.64, n.4, pp.671-677. ISSN 0120-0011.


Cystic fibrosis is considered the most common autosomal disease with multisystem complications in non-Hispanic white population.


To review the available evidence on cost-effectiveness of the cystic fibrosis carrier testing compared to no intervention.

Materials and methods:

The databases of MEDLINE, Embase, NHS, EBM Reviews - Cochrane Database of Systematic Reviews, LILACS, Health Technology Assessment,, and Web of Science were used to conduct a systematic review of the cost-effectiveness of performing the genetic test in cystic fibrosis patients. Cost-effectiveness studies were included without language or date of publication restrictions.


Only 13 studies were relevant for full review. Prenatal, preconception and mixed screening strategies were found. Health perspective was the most used; the discount rate applied was heterogeneous between 3.5% and 5%; the main analysis unit was the cost per detected carrier couple, followed by cost per averted birth with cystic fibrosis. It was evident that the most cost- effective strategy was preconception screening associated with prenatal test.


A marked heterogeneity in the methodology was found, which led to incomparable results and to conclude that there are different approaches to this genetic test.

Keywords : Cystic Fibrosis; Review; Cost-Effectiveness Evaluation (MeSH)..

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