LAUSR

Introduction: Cystic fibrosis is an autosomal recessive disease, with an estimated incidence in Colombia of 1/5000 live births (1). It is estimated worldwide that 1/25 individuals are healthy carriers (2). Genetic carrier screening allow the identification of couples at risk with a 25% chance of having children with the disease. Methodology: A systematic search was carried out in electronic databases specialized in health, including gray literature and panel of experts. We evaluated the operative characteristics of the diagnostic test of sequencing for asymptomatic carriers of mutations in cystic fibrosis, and the different decision tree models in cost-effectiveness studies. Modified Quadas2 and QHES were applied for diagnostic tests and economic studies, respectively. A decision tree model was adapted to the clinical context of the country, having as a unit of analysis the prevention of future conceptions through the test with genetic counseling, for the risk of presenting cystic fibrosis and the cost-effectiveness ratio, applied in asymptomatic relatives of first, second and third degree of consanguinity to the index case with diagnosis of cystic fibrosis in Colombia. The costs of the disease were obtained from the report of high cost of the Ministry of Health and Social Protection of Colombia. The costs of genetic testing were referenced by national laboratories. A deterministic and probabilistic sensitivity analysis was performed under the perspective of the third payer with a one-year time horizon. Results: An ICER of $ 17,082,833.90 Colombian pesos was obtained, which is equivalent to the incremental cost of obtaining 10.89% more probability of avoiding the birth of a sick child with cystic fibrosis by screening couple. It was evidenced that when applying GDP per capita as a willingness to pay; this diagnostic technology proves to be cost-effective to have an ICER between 1 and 3 GDP per capita. Conclusions: The genetic test of carrier detection for cystic fibrosis is cost effective depending on the availability threshold to pay applied, taking into account the assumptions, clinical scenarios and limitations established in the model.