OBJECTIVES: This study aimed to assess the cost-effectiveness of genetic testing in asymptomatic first-degree relatives of HCM patients compared with clinical surveillance from Brazilian Unified Health System perspective.

METHODS: A decision tree combined with a Markov model was developed to compare lifetime costs and quality-adjusted life years (QALYs) for the two strategies. The model included four heath states: clinical surveillance, positive HCM phenotype, negative HCM genotype and death. Transition probabilities were obtained from literature. Costs included genetic testing for the index patient and first-degree relatives and clinical surveillance of first-degree relatives. Effectiveness values were obtained through a rapid literature review that result in utilities values range from 0.72 for HCM patients to 0.87 for negative genotype individuals. Deterministic and probabilistic sensitivity analysis were carried out.

RESULTS: Genetic screening was considered a dominant strategy. It is more effective than clinical surveillance with an incremental effectiveness of 1.09 QALYs per relative tested. Additionally, it is also less costly, with potential savings of R$ 1,224.59 per screened individual.

CONCLUSIONS: The genetic screening strategy allows the selection of individuals who must be routinely monitored for early signs of the disease. This results in economic benefits since negative genotype relatives would avoid unnecessary tests. Furthermore, the knowledge about genetic status is important for career and family planning and contributes for improved quality of life, especially for those to whom HCM is ruled out.