RESUMO
Introduction: Cystic fibrosis is an autosomal recessive genetic disease classified as a highcost 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.
Introducción. La fibrosis quística es una enfermedad genética de carácter autosómico recesivo clasificada como enfermedad huérfana de alto costo. Objetivo. Determinar la razón de costo-efectividad de la prueba diagnóstica de secuenciación del gen CFTR para los portadores asintomáticos familiares en primer, segundo y tercer grados de consanguinidad. Materiales y métodos. Se hizo una búsqueda sistemática sobre la evaluación de las características operativas de la prueba diagnóstica y los modelos de árbol de decisiones en estudios de costo-efectividad. Se elaboró un modelo de árbol de decisiones tomando como unidad de análisis la prevención de futuras concepciones. Los costos de la enfermedad se obtuvieron del reporte de alto costo del Ministerio de Salud de Colombia. Los costos de la prueba se obtuvieron de laboratorios nacionales. Se hizo un análisis de sensibilidad, determinístico y probabilístico, con la perspectiva del tercer pagador y horizonte a un año. Resultados. Se obtuvo una razón incremental de costo-efectividad (RICE) de USD$5.051,10 por obtener 10,89 % más de probabilidades de evitar el nacimiento de un niño enfermo con fibrosis quística por pareja. Para los familiares de segundo y tercer grados, se encontró una RICE de USD$ 19.380,94 y USD$ 55.913,53, respectivamente, al aplicar el PIB per cápita. Esta tecnología fue costo-efectiva en 39 %, 61,18 % y 74,36 % para 1, 2 y 3 PIB per cápita en familiares de primer grado de consanguinidad. Conclusiones. La prueba genética de detección de portadores del gen CFTR resultó costo-efectiva dependiendo del umbral de la disponibilidad de pagar, y de los supuestos y limitaciones establecidas en el modelo.
Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Análise Mutacional de DNA/economia , Triagem de Portadores Genéticos/economia , Doenças Assintomáticas , Viés , Colômbia/epidemiologia , Análise Custo-Benefício , Fibrose Cística/economia , Fibrose Cística/epidemiologia , Fibrose Cística/genética , Fibrose Cística/prevenção & controle , Árvores de Decisões , Triagem de Portadores Genéticos/métodos , Aconselhamento Genético , Humanos , Reembolso de Seguro de Saúde , Aceitação pelo Paciente de Cuidados de Saúde , Probabilidade , Sensibilidade e Especificidade , Análise de Sequência de DNA/economiaRESUMO
Cystic fibrosis newborn screening was implemented in Brazil by the Public Health System in 2012. Because of cost, only 1 mutation was tested - p.Phe508del. We developed a robust low-cost genetic test for screening 11 CFTR gene mutations with potential use in developing countries.
Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/diagnóstico , Testes Genéticos/métodos , Custos de Cuidados de Saúde , Programas Nacionais de Saúde/economia , Triagem Neonatal/métodos , Brasil , Fibrose Cística/economia , Fibrose Cística/genética , Feminino , Marcadores Genéticos , Testes Genéticos/economia , Humanos , Recém-Nascido , Masculino , Mutação , Triagem Neonatal/economia , Sensibilidade e EspecificidadeRESUMO
OBJECTIVES: To determine whether bronchoalveolar lavage (BAL)-directed therapy for infants and young children with cystic fibrosis (CF), rather than standard therapy, was justified on the grounds of a decrease in average costs and whether the use of BAL reduced treatment costs associated with hospital admissions. STUDY DESIGN: Costs were assessed in a randomized controlled trial conducted in Australia and New Zealand on infants diagnosed with CF after newborn screening and assigned to receive either BAL-directed or standard therapy until they reached 5 years of age. A health care funder perspective was adopted. Resource use measurement was based on standardized data collection forms administered for patients across all sites. Unit costs were obtained primarily from government schedules. RESULTS: Mean costs per child during the study period were Australian dollars (AUD)92â860 in BAL-directed therapy group and AUD90â958 in standard therapy group (mean difference AUD1902, 95% CI AUD-27â782 to 31â586, P = .90). Mean hospital costs per child during the study period were AUD57â302 in the BAL-directed therapy group and AUD66â590 in the standard therapy group (mean difference AUD-9288; 95% CI AUD-35â252 to 16â676, P = .48). CONCLUSIONS: BAL-directed therapy did not result in either lower mean hospital admission costs or mean costs overall compared with managing patients with CF by a standard protocol based upon clinical features and oropharyngeal culture results alone. Following on our previous findings that BAL-directed treatment offers no clinical advantage over standard therapy at age 5 years, flexible bronchoscopy with BAL cannot be recommended for the routine management of preschool children with CF on the basis of overall cost savings.
Assuntos
Lavagem Broncoalveolar/economia , Fibrose Cística/economia , Fibrose Cística/terapia , Pré-Escolar , Custos e Análise de Custo , Humanos , Lactente , Admissão do Paciente/economia , Admissão do Paciente/estatística & dados numéricosRESUMO
OBJECTIVE: To determine whether previously reported socioeconomic status (SES)-related disparities in cystic fibrosis (CF) health outcomes vary by the indicator used (median household income by zip code [MIZ], maternal educational attainment [MEA], and state insurance coverage [MA]), and whether these disparities can be explained by differences in medical treatment. STUDY DESIGN: A cross-sectional analysis of data on patients age <18 years from the Epidemiologic Study of Cystic Fibrosis (ESCF). RESULTS: Disease severity showed a similar inverse correlation with all 3 SES measures. The number of stable clinic visits was unrelated to SES. Patients with MA had more sick outpatient visits and more courses of intravenous (IV) antibiotics for pulmonary exacerbations, and were more likely to be prescribed all chronic therapies. Low-MIZ patients had slightly fewer sick visits and more courses of IV antibiotics, and were more likely to receive oral nutrition supplements but less likely to receive macrolide prescriptions. Low-MEA patients were less likely to receive IV antibiotics at home, more likely to receive oral nutrition supplements, but less likely to receive macrolide prescriptions. CONCLUSIONS: CF health outcomes are correlated with the SES spectrum, but these disparities are not explained by differential use of health services or prescription of chronic therapy. Future investigations should focus on the possible impact of environmental exposures and differences in disease self-management.
Assuntos
Efeitos Psicossociais da Doença , Fibrose Cística/economia , Fibrose Cística/terapia , Acessibilidade aos Serviços de Saúde/estatística & dados numéricos , Disparidades em Assistência à Saúde/estatística & dados numéricos , Adolescente , Fatores Etários , Criança , Pré-Escolar , Doença Crônica , Estudos Transversais , Fibrose Cística/diagnóstico , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Acessibilidade aos Serviços de Saúde/economia , Humanos , Lactente , Recém-Nascido , Modelos Lineares , Modelos Logísticos , Assistência de Longa Duração/economia , Masculino , Avaliação de Resultados em Cuidados de Saúde , Valor Preditivo dos Testes , Probabilidade , Medição de Risco , Índice de Gravidade de Doença , Fatores Sexuais , Fatores Socioeconômicos , Estados UnidosRESUMO
OBJECTIVES: To extend previous evaluations of costs of cystic fibrosis (CF) diagnosis and examine key issues in assessing the CF cost of care. STUDY DESIGN: Costs for CF newborn screening (NBS) including CF multi-mutation testing are analyzed by using data from the Wisconsin State Laboratory of Hygiene. Electronic data from 2 Wisconsin CF centers are used to illustrate the complexity of analyzing CF health care utilization and costs. RESULTS: The current cost-per-newborn of a CF multi-mutation test is 50% higher than testing for a single mutation. Data collection for the cost-of-care study requires a combination of electronic and manual data collection; modeling of cost data requires consideration of any censoring. Hospitalizations are shown to have a large impact on costs and show high variability at the individual level. Sixty-nine percent of children with meconium ileus had some hospitalization versus 56% of children without meconium ileus. CONCLUSION: A cost-benefit analysis of CF multi-mutation testing is warranted. The study of health care cost data is complex and utilization varies between children. Individual-level modeling of CF costs must include factors contributing to the severity of the disease and allow for consideration of individual-level utilization, such as the number of hospitalizations.
Assuntos
Fibrose Cística , Custos de Cuidados de Saúde/estatística & dados numéricos , Triagem Neonatal/economia , Efeitos Psicossociais da Doença , Análise Custo-Benefício , Fibrose Cística/complicações , Fibrose Cística/diagnóstico , Fibrose Cística/economia , Fibrose Cística/terapia , Análise Mutacional de DNA/economia , Hospitalização/economia , Hospitais Pediátricos/economia , Hospitais Universitários/economia , Humanos , Íleus/economia , Íleus/etiologia , Imunoensaio/economia , Recém-Nascido , Tempo de Internação/economia , Mecônio , Modelos Econométricos , Triagem Neonatal/métodos , Índice de Gravidade de Doença , WisconsinRESUMO
OBJECTIVES: To compare the cost of diagnosing cystic fibrosis (CF) through a newborn screening program with the traditional method and to estimate the cost of CF diagnosis if a national newborn screening program is implemented. STUDY DESIGN: Surveys were conducted to determine the annual number of sweat tests in 1991 and in 2000 after implementation of statewide screening. A national survey of sweat test costs was used to estimate the annual expense for diagnosing CF in the United States through newborn screening. RESULTS: Since the introduction of newborn screening for CF, the numbers of sweat tests ordered annually have decreased from 1670 to 804 (including 134 follow-up tests from screening). The current estimated annual cost of Wisconsin CF newborn screening and diagnosis is $4.58 per newborn infant. The estimated annual cost per newly diagnosed CF infant using the traditional method is $4.97 per newborn infant. If no additional sweat tests were ordered outside of the newborn screening program, the estimated annual cost of a Wisconsin CF newborn screening and diagnosis is $2.66 per newborn and $2.47 per newborn for a national CF newborn screening program. CONCLUSIONS: A CF newborn screening program provides a potentially cost-saving alternative to the traditional method of diagnosis of CF.
Assuntos
Fibrose Cística/diagnóstico , Custos de Cuidados de Saúde , Triagem Neonatal/economia , Cloretos/análise , Redução de Custos , Fibrose Cística/economia , Humanos , Recém-Nascido , Método de Monte Carlo , Suor/química , Tripsinogênio/análise , WisconsinRESUMO
Os autores pesquisaram os aspectos econômicos do tratamento ambulatorial dos pacientes portadores de F. C., matriculados na Unidade de Pneumologia do Instituto da Criança do Hospital das Clínicas da FMUSP, dentro do orçamento familiar, relacionando-os ao grau de severidade da doença. Foram aplicados questionários a pais de 11 pacientes contendo entre outros dados, questöes referentes a nível sócio-econômico (NSE), uso de medicamentos, gasto familiar e alimentaçäo. Três pacientes foram considerados clinicamente portadores de doença grave (2 no NSE médio-alto e 1 médio-baixo), dois de moderada (ambos de NSE médio alto), cinco de leve (1 de NSE médio alto, 1 médio e 3 baixo) e um excelente (NSE baixo). Näo foi identificada nenhuma sobrecarga no orçamento familiar em nenhum NSE em funçäo do tratamento, atribuindo-se o fato ao suporte financeiro dado pela instituiçäo nos gastos referentes a medicaçäo, exames e eventuais internaçöes. No entanto é importante salientar que os pacientes de NSE baixo nem sempre seguem o tratamento, pois a preocupaçäo primordial da família se restringe aos gastos essenciais na sobrevida: alimentaçäo e moradia. Um trabalho voltado para as dificuldades financeiras deste grupo de pacientes pode contribuir para que o controle ambulatorial seja melhorado e mais adequado