Cost-Effectiveness Analysis of a Genetic Screening Program in the Close Relatives of Spanish Patients With Familial Hypercholesterolemia

Introduction and objectivesThe aim was to assess the cost-effectiveness of a genetic screening program for first-degree relatives of patients with familial hypercholesterolemia (FH), followed by treatment when necessary, compared with the alternative of no screening.MethodsThe cost-effectiveness analysis modeled the effect of statin treatment on individuals who were diagnosed with FH after genetic screening. The impact of uncertainty was evaluated using univariate probabilistic sensitivity analysis. The alternate strategy considered was no screening. In the cost-effectiveness analysis, the number of life-years gained (LYG) was regarded as the health outcome and the costs of screening, statin treatment, specialist consultations and hospital visits were all included. In addition, the expected value of perfect information was calculated as part of the sensitivity analysis.ResultsIn the base case, the incremental cost of the screening program for close relatives was 3423 euros per LYG. Although the sensitivity analysis gave a range of results, the conclusions were not affected by changes in the parameters considered. The screening program was found to be better than the alternative considered at a probability level of 95% if the acceptable level of healthcare costs was at least 7400 euros per LYG.ConclusionsThis analysis indicates that a genetic screening program, supplemented by treatment, for the close relatives of individuals with FH is preferable to the alternative of no screening in terms of incremental cost-effectiveness.

Introducción y objetivosDesarrollar un análisis coste -efectividad de un programa de cribado genético de familares de primer grado de pacientes con hipercolesterolemia familiar (HF), seguido de tratamiento cuando fuera necesario, frente a la alternativa de no cribar.MétodosSe realiza un análisis coste-efectividad en el cual se modeló el efecto del tratamiento con estatinas en personas diagnosticadas de HF tras el cribado genético. La incertidumbre se trató mediante análisis de sensibilidad univariable y probabilístico. La estrategia alternativa considerada es no cribar. El análisis coste-efectividad considera como resultado sobre la salud los años de vida ganados (AVG) e incluye los costes del cribado, tratamiento con estatinas, visitas al especialista y hospitalizaciones. Asimismo, se calculó el valor esperado de la información perfecta, como complemento del análisis de sensibilidad.ResultadosEn el caso base, el coste incremental por AVG del programa de cribado a pacientes directos asciende a 3.423 euros/AVG. Los resultados varían en el análisis de sensibilidad, pero las conclusiones son robustas frente a cambios en los parámetros considerados. El programa de cribado es óptimo frente a la alternativa considerada, con un 95% de probabilidad si la disposición a pagar, social o del decisor sanitario, fuera de al menos 7.400 euros/AVG.ConclusionesEl análisis señala que el programa de cribado genético más tratamiento en familiares directos de personas con HF presenta una buena relación incremental de coste-efectividad frente a la alternativa de no cribar.