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Biomédica
Print version ISSN 0120-4157On-line version ISSN 2590-7379
Abstract
ANDRADE, Ernesto and DIAZ, Jorge. Cost-effectiveness of the CFTR gene-sequencing test for asymptomatic carriers in the Colombian population. Biomed. [online]. 2020, vol.40, n.2, pp.283-295. Epub June 30, 2020. ISSN 0120-4157. https://doi.org/10.7705/biomedica.4816.
Introduction:
Cystic fibrosis is an autosomal recessive genetic disease classified as a high- cost orphan disease.
Objective:
To determine the cost-effectiveness ratio of the diagnostic test for the CFTR gene-sequencing in asymptomatic family carriers in the first, second, and third degree of consanguinity.
Materials and methods:
We conducted a systematic search evaluating operative characteristics of the diagnostic test and decision-tree models in cost-effectiveness studies. A decision-tree model was elaborated taking prevention of future conceptions as a unit of analysis. We obtained the costs of the disease from the high-cost report of the Ministerio de Salud y Protección Social. The costs of the test were referenced by national laboratories.
We carried out a deterministic and probabilistic sensitivity analysis with a third-payer perspective and a one-year horizon.
Results:
An ICER of USD$ 5051.10 was obtained as the incremental cost for obtaining 10.89% more probability of avoiding the birth of a child with cystic fibrosis per screened couple. For family members in second and third degrees, the ICER was USD$ 19,380.94 and USD$ 55,913.53, respectively, evidenced when applying the GDP per capita. This technology was cost-effective in 39%, 61.18%, and 74.36% for 1, 2, and 3 GDP per capita in first degree of consanguinity relatives.
Conclusions:
The genetic test for the detection of CFTR gene carriers was cost-effective depending on the threshold of availability to pay and the assumptions and limitations established in the model.
Keywords : Cystic fibrosis/genetics; genetic carrier screening; genetic counseling; genetic testing; cost-effectiveness evaluation.