Introduction:

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

Objective:

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, Genetests.org, Genetsickkids.org 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.

Results:

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.

Conclusions:

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.

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