Custo-utilidade do teste genético comparado ao rastreio clínico nos familiares do probando com cardiomiopatia hipertrófica na perspectiva do Sistema Único de Saúde
Custo-utilidade do teste genético comparado ao rastreio clínico nos familiares do probando com cardiomiopatia hipertrófica na perspectiva do Sistema Único de Saúde
Data
2024
Autores
Braga, Andressa Araújo
Journal Title
Journal ISSN
Volume Title
Publisher
Instituto Nacional de Cardiologia
Resumo
Introdução: A cardiomiopatia hipertrófica (CMPH) é uma doença genética do músculo cardíaco com prevalência estimada em 0,2% na população geral e com padrão de herança autossômica dominante. Esta doença com apresentação heterogênea é a causa mais frequente de morte súbita em jovens. Diretrizes internacionais recomendam o rastreio periódico dos familiares de pacientes com CMPH para diagnóstico precoce da doença e estratificação do risco de morte súbita. O teste genético pode desempenhar um papel fundamental nesse processo, identificando os familiares com mutação, que necessitam de rastreio clínico periódico, e os familiares sem mutação, que podem receber alta do rastreio. No entanto, no Brasil, a avaliação genética não está incorporada ao Sistema Único de Saúde.
Objetivo: Este estudo visa estimar a custo-utilidade do teste genético associado ao rastreio clínico periódico, em comparação ao rastreio clínico padrão, em familiares de pacientes com CMPH. Além disso, objetiva identificar e valorar os recursos para os testes genéticos de primeira e segunda geração, e comparar os recursos de saúde utilizados em cada estratégia.
Método: Foi desenvolvido um modelo de árvore de decisão acoplado a um modelo de Markov para analisar uma coorte hipotética de familiares de pacientes com CMPH, iniciando o seguimento aos 8 anos de idade, com acompanhamento ao longo de 50 anos, na perspectiva do Sistema Único de Saúde. Os parâmetros do modelo foram baseados em revisões rápidas da literatura e consultas a especialistas. Os custos relacionados aos testes genéticos foram estimados por microcusteio na perspectiva de um hospital federal. Foram realizadas análises de sensibilidade determinística e probabilística.
Resultados: Foi evidenciada uma economia potencial de recursos em saúde, sendo estimado a realização de 17,62 (17,03-18,17) rastreios clínicos nos familiares do grupo intervenção em comparação com 22,23 (22,18-22,28) nos familiares do grupo prática atual, pois com a inclusão do teste genético, cerca de 20% dos familiares foram liberados do rastreio clínico periódico, evitando a realização de aproximadamente 9,23 (10,30-8,22) consultas e 4,62 (5,15-4,11) ecocardiogramas transtorácicos e eletrocardiogramas por familiar testado. Os custos dos testes genéticos de primeira e segunda geração foram estimados em R$ 414,73 e R$1.545,36, respectivamente. A estratégia com teste genético foi considerada
dominante, com maior efetividade incremental (0,84 QALY) e uma economia potencial de R$ 613,69 por familiar. Na análise de sensibilidade, as utilidades foram os parâmetros com maior impacto na razão de custo-efetividade incremental. Na análise probabilística, 74% das simulações ficaram no quadrante inferior direito (mais barato e efetivo).
Conclusão: O estudo evidencia que o rastreio clínico dos familiares de pacientes com CMPH, quando orientado pelo teste genético, promove uma economia financeira e de recursos, o que pode contribuir para um sistema de saúde mais eficiente.
Palavras-Chave: Análise de Custo-Efetividade; Cardiomiopatia Hipertrófica; Doenças Genéticas Inatas; Testes Genéticos; Programas de Triagem Diagnóstica.
ABSTRACT Introduction: Hypertrophic cardiomyopathy (HCM) is a genetic disorder of the myocardium with an autosomal dominant inheritance pattern and prevalence of 0.2% in the general population. This disease has a variety of manifestations and is the leading cause of sudden death in young individuals. International guidelines recommend periodic screening of family members of patients with HCM for early diagnosis, as well as risk stratification for sudden death. Using genetic testing, it is possible to determine which relatives should undergo regular clinical screening based on genetic variants, and which relatives can be discharged. The incorporation of a genetic test into Brazil's Unified Health System has not yet occurred. Objectives: The objective of this study was to evaluate the cost-effectiveness of genetic testing in addition to periodic clinical screening compared to standard clinical screening in relatives of patients with HCM. Furthermore, it aims to recognize and assess the materials employed to perform first and second generations genetic test and to appraise the allocation of healthcare resources for each strategy. Method: A decision tree model combined with a Markov model was developed to analyze a hypothetical cohort of HCM patients’ relatives, starting follow-up at eight years old and continuing for 50 years, from the perspective of the Brazilian public health system. The model parameters were based on a rapid literature review and specialist survey. Costs related to genetic tests were estimated through microcosting from the perspective of a federal hospital. Deterministic and probabilistic sensitivity analyses were also performed. Results: Evidence regarding potential healthcare resource savings was identified. It is estimated that 17.62 (17.03-18.17) clinical screenings were performed in patients' relatives in the intervention group compared to 22.23 (22.18-22.28) in the current practice group, as genetic testing allowed approximately 20% of patients' relatives to be discharged from periodic clinical screening, saving approximately 9.23 (10.30-8.22) medical appointments and 4.62 (5.15-4.11) transthoracic echocardiograms and electrocardiograms per family member tested. The estimated costs for first- and second-generation genetic testing were R$414,73 and R$1.545,36, respectively. The genetic testing strategy was considered dominant, with higher incremental effectiveness (0.84 QALYs) and potential cost savings of R$613,69 per family member. In the sensitivity analysis, the utilities had the greatest impact on the incremental cost-effectiveness ratio. In the probabilistic analysis, 74% of the simulations were in the lower-right quadrant (cheaper and more effective). Conclusion: This study demonstrates that the clinical screening of relatives of patients with HCM, when guided by genetic testing, promotes financial and resource savings, which can contribute to a more efficient healthcare system. Keyword: Cost-effectiveness Analysis; Cardiomyopathy, Hypertrophic; Genetic Diseases, Inborn; Genetic Testing; Genetic Predisposition to Disease; Diagnostic Screening Programs.
ABSTRACT Introduction: Hypertrophic cardiomyopathy (HCM) is a genetic disorder of the myocardium with an autosomal dominant inheritance pattern and prevalence of 0.2% in the general population. This disease has a variety of manifestations and is the leading cause of sudden death in young individuals. International guidelines recommend periodic screening of family members of patients with HCM for early diagnosis, as well as risk stratification for sudden death. Using genetic testing, it is possible to determine which relatives should undergo regular clinical screening based on genetic variants, and which relatives can be discharged. The incorporation of a genetic test into Brazil's Unified Health System has not yet occurred. Objectives: The objective of this study was to evaluate the cost-effectiveness of genetic testing in addition to periodic clinical screening compared to standard clinical screening in relatives of patients with HCM. Furthermore, it aims to recognize and assess the materials employed to perform first and second generations genetic test and to appraise the allocation of healthcare resources for each strategy. Method: A decision tree model combined with a Markov model was developed to analyze a hypothetical cohort of HCM patients’ relatives, starting follow-up at eight years old and continuing for 50 years, from the perspective of the Brazilian public health system. The model parameters were based on a rapid literature review and specialist survey. Costs related to genetic tests were estimated through microcosting from the perspective of a federal hospital. Deterministic and probabilistic sensitivity analyses were also performed. Results: Evidence regarding potential healthcare resource savings was identified. It is estimated that 17.62 (17.03-18.17) clinical screenings were performed in patients' relatives in the intervention group compared to 22.23 (22.18-22.28) in the current practice group, as genetic testing allowed approximately 20% of patients' relatives to be discharged from periodic clinical screening, saving approximately 9.23 (10.30-8.22) medical appointments and 4.62 (5.15-4.11) transthoracic echocardiograms and electrocardiograms per family member tested. The estimated costs for first- and second-generation genetic testing were R$414,73 and R$1.545,36, respectively. The genetic testing strategy was considered dominant, with higher incremental effectiveness (0.84 QALYs) and potential cost savings of R$613,69 per family member. In the sensitivity analysis, the utilities had the greatest impact on the incremental cost-effectiveness ratio. In the probabilistic analysis, 74% of the simulations were in the lower-right quadrant (cheaper and more effective). Conclusion: This study demonstrates that the clinical screening of relatives of patients with HCM, when guided by genetic testing, promotes financial and resource savings, which can contribute to a more efficient healthcare system. Keyword: Cost-effectiveness Analysis; Cardiomyopathy, Hypertrophic; Genetic Diseases, Inborn; Genetic Testing; Genetic Predisposition to Disease; Diagnostic Screening Programs.
Description
Palavras-chave
Análise de Custo-Efetividade, Cardiomiopatia Hipertrófica, Doenças Genéticas Inatas, Testes Genéticos, Programas de Triagem Diagnóstica., Cost-effectiveness Analysis;, Cardiomyopathy, Hypertrophic, Genetic Diseases, Inborn;, Genetic Testing, Genetic Predisposition to Disease, Diagnostic Screening Programs.
Citação
Braga AA. Custo-utilidade do teste genético comparado ao rastreio clínico nos familiares do probando com cardiomiopatia hipertrófica na perspectiva do Sistema Único de Saúde. Rio de Janeiro. dissertação [Mestrado Profiossional em Avaliação de Tecnologias em Saúde] Instituto Nacional de Cardiologia - INC; 2024.