The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis.

Up to 25% of pediatric cataract cases are inherited. There is sparse information in the literature regarding the cost of whole-exome sequencing (WES) for suspected hereditary pediatric cataracts. Molecular diagnosis of suspected hereditary pediatric cataracts is important for comprehensive genetic counseling. We performed a partial economic evaluation with a mixed costing analysis, using reimbursement data and microcosting approach with a bottom-up technique to estimate the cost of using WES for genetic diagnosis of suspected hereditary pediatric cataracts from the perspective of the Brazilian governmental health care system. One hundred and ten participants from twenty-nine families in Rio de Janeiro (RJ) were included. Costs of consumables, staff and equipment were calculated. Two scenarios were created: (1) The reference scenario included patients from RJ with suspected hereditary pediatric cataracts plus two family members. (2) The alternative scenario considered other genetic diseases, resulting in 5,280 exams per month. Sensitivity analysis was also performed. In the reference scenario, the total cost per exam was 700.09 United States dollars (USD), and in the alternative scenario, the total cost was 559.23 USD. The cost of WES alone was 527.85 USD in the reference scenario and 386.98 USD in the alternative scenario. Sensitivity analysis revealed that the largest costs were associated with consumables in both scenarios. Economic evaluations can help inform policy decisions, especially in middle-income countries such as Brazil.

Portable wide-field digital imaging for screening of neonatal visual impairment causes in Rio de Janeiro, Brazil: a budget impact analysis.

OBJECTIVE: To estimate the budget impact of portable wide-field digital imaging incorporation on screening neonatal causes of childhood blindness and visual impairment in Rio de Janeiro, Brazil. DESIGN: Budget impact analysis. SETTING: Rio de Janeiro, Brazil. PRIMARY AND SECONDARY OUTCOME MEASURES: The primary outcome was the direct cost of indirect binocular ophthalmoscopy, red reflex test and portable wide-field digital image screening comprising all babies born in Rio de Janeiro's government maternity wards. The secondary outcome was the budget impact of implementing portable wide-field digital image screening in Rio de Janeiro, Brazil. RESULTS: Considering 100% coverage of maternity wards, the total budget impact between 2020 and 2024 would be US$3 820 706.04, ranging from US$3 139 844.34 to US$6 099 510.35. The additional cost would be US$3 124 457.28, ranging from US$2 714 492.26 to US$4 880 608.63. CONCLUSION: The cost of universal digital imaging screening corresponds to less than 1% of the government health budget of the city of Rio de Janeiro. The information provided in this study may help government decision-makers evaluate the feasibility of implementing this new strategy in the municipal setting. Further health economic evaluations should be performed to verify the affordability of the implementation of this screening strategy in the Brazilian scenario, taking into account scarce human resources.

Brazilian guidelines on the frequency of ophthalmic assessment and recommended examinations in healthy children younger than 5 years / Diretrizes brasileiras sobre avaliação oftalmológica de crianças saudáveis menores de 5 anos: exames recomendados e frequência

ABSTRACT Purpose: To provide guidance on the frequency and components of eye examinations for healthy children aged 0 to 5 years. Methods: These guidelines were developed based on the medical literature and clinical experience of an expert committee. PubMed/Medline searches were performed, with selected publications not restricted to systematic reviews, randomized controlled trials, or observational studies. The Grading of Recommendations Assessment, Development, and Evaluation profile was applied when suitable, and for issues without scientific evidence, recommendations were based on expert consensus. Recommendations by the American Academy of Pediatrics, American Association of Pediatric Ophthalmology and Strabismus, American Academy of Ophthalmology, Royal College of Ophthalmologists, and Canadian Ophthalmological Society were also reviewed. The final guideline document was approved by the Brazilian Pediatric Ophthalmology Society and by the Brazilian Pediatric Society. Results: Newborns must undergo the red reflex test and inspection of the eyes and adnexa by a pediatrician within 72 hours of life. The red reflex test should be repeated by the pediatrician during childcare consultations at least three times per year during the first 3 years of life. If feasible, a comprehensive ophthalmologic examination may be performed between 6 and 12 months of age. Until 36 months of age, the pediatrician should assess the infant's visual development milestones, age-appropriate assessment of visual function, ocular fixation, and eye alignment. At least one comprehensive ophthalmologic examination should be performed at 3 to 5 years of age. The examination should minimally include inspection of the eyes and adnexa, age-appropriate visual function assessment, evaluations of ocular motility and alignment (cover tests), cycloplegic refraction, and dilated fundus. Conclusions: Guidelines concerning the frequency of ophthalmic assessment are important tools for directing physicians regarding best practices that avoid treatable vision problems that affect children's development, school, and social performance and cause unnecessary permanent vision loss.

RESUMO Objetivo: Fornecer orientações sobre a frequência e os componentes dos exames oftalmológicos para crianças saudáveis de 0 a 5 anos. Métodos: Essas diretrizes foram desenvolvidas com base em revisão bibliográfica e experiência clínica de um comitê de especialistas. Foram realizadas buscas PubMed/Medline; documentos selecionados não se restringiram a revisões sistemáticas, ensaios clínicos randomizados e estudos observacionais. Quando adequado, o perfil GRADE foi aplicado para graduá-los e o consenso de especialistas foi usado nos tópicos sem evidência científica. Também foram revisadas as recomendações pela Academia Americana de Pediatria, Associação Americana de Oftalmologia Pediátrica e Estrabismo, Academia Americana de Oftalmologia, Royal College of Ophthalmologist e Sociedade Canadense de Oftalmologia. O documento final foi aprovado pela Sociedade Brasileira de Oftalmologia Pediátrica e Sociedade Brasileira de Pediatria. Resultados: Os recém-nascidos devem ser submetidos ao teste do reflexo vermelho e inspeção dos olhos e anexos pelo pediatra dentro de 72 horas de vida ou antes da alta da maternidade. O teste do reflexo vermelho deve ser repetido pelo pediatra durante as consultas de puericultura pelo menos três vezes ao ano durante os primeiros 3 anos de vida. Se factível, um exame oftalmológico completo pode ser feito entre 6 a 12 meses de vida. Até os 36 meses de idade, os marcos visuais, função visual apropriada para a idade, fixação e alinhamento ocular também devem ser avaliados pelo pediatra ou médico da família. Pelo menos um exame oftalmológico completo deve ser realizados entre 3 e 5 anos de idade. O exame deve conter pelo menos inspeção dos olhos e anexos, avaliação da função visual apropriada para a idade, avaliação da motilidade e alinhamento ocular (testes de cobertura), refração sob cicloplegia e avaliação do fundo de olho dilatado. Conclusões: As diretrizes sobre a frequência da avaliação oftalmológica são ferramentas importantes para orientar os médicos sobre a melhor prática a fim de evitar problemas visuais tratáveis na infância, que poderiam comprometer seu desenvolvimento social, escolar e global, além de causar perda permanente da visão.

Brazilian guidelines on the frequency of ophthalmic assessment and recommended examinations in healthy children younger than 5 years.

PURPOSE: To provide guidance on the frequency and components of eye examinations for healthy children aged 0 to 5 years. METHODS: These guidelines were developed based on the medical literature and clinical experience of an expert committee. PubMed/Medline searches were performed, with selected publications not restricted to systematic reviews, randomized controlled trials, or observational studies. The Grading of Recommendations Assessment, Development, and Evaluation profile was applied when suitable, and for issues without scientific evidence, recommendations were based on expert consensus. Recommendations by the American Academy of Pediatrics, American Association of Pediatric Ophthalmology and Strabismus, American Academy of Ophthalmology, Royal College of Ophthalmologists, and Canadian Ophthalmological Society were also reviewed. The final guideline document was approved by the Brazilian Pediatric Ophthalmology Society and by the Brazilian Pediatric Society. RESULTS: Newborns must undergo the red reflex test and inspection of the eyes and adnexa by a pediatrician within 72 hours of life. The red reflex test should be repeated by the pediatrician during childcare consultations at least three times per year during the first 3 years of life. If feasible, a comprehensive ophthalmologic examination may be performed between 6 and 12 months of age. Until 36 months of age, the pediatrician should assess the infant's visual development milestones, age-appropriate assessment of visual function, ocular fixation, and eye alignment. At least one comprehensive ophthalmologic examination should be performed at 3 to 5 years of age. The examination should minimally include inspection of the eyes and adnexa, age-appropriate visual function assessment, evaluations of ocular motility and alignment (cover tests), cycloplegic refraction, and dilated fundus. CONCLUSIONS: Guidelines concerning the frequency of ophthalmic assessment are important tools for directing physicians regarding best practices that avoid treatable vision problems that affect children's development, school, and social performance and cause unnecessary permanent vision loss.

Cost-Utility Analysis of Wide-Field Imaging as an Auxiliary Technology for Retinopathy of Prematurity Care in Brazil.

Purpose: To evaluate the cost-utility of wide-field imaging (WFI) as a complementary technology for retinopathy of prematurity (ROP) screening from the Brazilian Unified Health System's perspective. Introduction: ROP is one of the leading causes of avoidable childhood blindness worldwide, especially in middle-income countries. The current ROP screening involves indirect binocular ophthalmoscopy (IBO) by ROP expert ophthalmologists. However, there is still insufficient ROP screening coverage. An alternative screening strategy is the combination of WFI with IBO. Methods: A cost-utility analysis was performed using a deterministic decision-tree simulation model to estimate incremental cost-utility for ROP care. Two screening strategies were compared: (1) IBO and (2) combination of WFI of all eligible preterm infants and IBO for type 2 ROP or worse and for non-readable images. Eligible population included preterm infants <32 weeks of gestational age or birth weight equal to or <1,500 g. The temporal horizon was lifetime. Visual outcome data was converted to utility, and the health benefits were estimated on quality-adjusted life-years (QALY). Incremental cost per QALY gained was calculated from the health system perspective. Costs were estimated considering equipment, maintenance, consumables, and staff. A micro-costing approach was used for WFI. Two technician nurses were trained for imaging execution and had their time evaluated. Two ROP expert ophthalmologists had their time evaluated for imaging reading. One-way sensitivity analysis and probabilistic sensitivity analysis were performed. Results: Combined screening strategy resulted in a cost-effective program considering 90% ROP screening coverage. Costs per examination: (1) screening with IBO: US dollar (US $) 34.36; (2) screening with combination: US $58.20; (3) laser treatment: US $642.09; (4) long-term follow-up: ranged from US $69.33 to 286.91, based on the infant's visual function. Incremental cost per QALY gained was US $1,746.99/QALY per infant screened with the combination strategy. One-way sensitivity analysis resulted in cost-effectiveness for all parameters. Probabilistic sensitivity analyses yielded a 100% probability of combination being cost-effective in a willingness-to-pay threshold of US $1,800/QALY. Conclusion: The combined strategy for ROP screening was cost-effective. It enhances access for appropriate ROP care in middle-income countries and dminishes opportunity costs for ophthalmologists.

Retinopathy of prematurity prevention, screening and treatment programmes: Progress in South America.

Retinopathy of prematurity (ROP) is the main cause of blindness and visual impairment in Latin America and prevention, detection and treatment have been a priority in the Region in the last two decades. There is progress in the number of eligible babies screened and treated in at least half of the countries with strong regulations on ROP, but screening is not yet available in all provinces in most. More effort is needed to increase national protocols and legislation, strengthening of services and human resources to cover all national provinces; telemedicine might be a promising strategy.

Retinopathy of prematurity screening and treatment cost in Brazil.

OBJECTIVE: To assess the additional cost of incorporating the detection and treatment of retinopathy of prematurity (ROP) into neonatal care services of Brazil's Unified Health System (SUS). METHODS: A deterministic decision-tree simulation model was built to estimate the direct costs of screening for and treating ROP in neonatal intensive-care units (NICUs), based on data for 869 preterm infants with birth weight less than 1 500 g examined in six governmental NICUs in the capital city of Rio de Janeiro, where coverage was 52% and 8% of infants were treated. All of the parameters from this study were extrapolated to Brazilian newborn estimates in 2010. Costs of screening and treatment were estimated considering staff, equipment and maintenance, and training based on published data and expert opinion. A budget impact analysis was performed considering the population of preterm newborns, screening coverage, and the incidence of treatable ROP. One- and two-way sensitivity analyses were performed. RESULTS: In Rio de Janeiro, unit costs per newborn were US$ 18 for each examination, US$ 398 per treatment, and US$ 29 for training. The estimated cost of ROP diagnosis and treatment for all at-risk infants NICUs was US$ 80 per infant. The additional cost to the SUS for one year would be US$ 556 640 for a ROP program with 52% coverage, increasing to US$ 856 320 for 80% coverage, and US$ 1.07 million or 100% coverage. CONCLUSIONS: The results of this study indicate that providing ROP care is affordable within the framework of the SUS in Brazil, and might be feasible elsewhere in Latin America, considering the evidence of the effectiveness of ROP treatment and the social benefits achieved.

Retinopathy of prematurity screening and treatment cost in Brazil / Costo de la detección y el tratamiento de la retinopatía de la prematuridad en el Brasil

OBJECTIVE: To assess the additional cost of incorporating the detection and treatment of retinopathy of prematurity (ROP) into neonatal care services of Brazil's Unified Health System (SUS). METHODS: A deterministic decision-tree simulation model was built to estimate the direct costs of screening for and treating ROP in neonatal intensive-care units (NICUs), based on data for 869 preterm infants with birth weight less than 1 500 g examined in six governmental NICUs in the capital city of Rio de Janeiro, where coverage was 52% and 8% of infants were treated. All of the parameters from this study were extrapolated to Brazilian newborn estimates in 2010. Costs of screening and treatment were estimated considering staff, equipment and maintenance, and training based on published data and expert opinion. A budget impact analysis was performed considering the population of preterm newborns, screening coverage, and the incidence of treatable ROP. One- and two-way sensitivity analyses were performed. RESULTS: In Rio de Janeiro, unit costs per newborn were US$ 18 for each examination, US$ 398 per treatment, and US$ 29 for training. The estimated cost of ROP diagnosis and treatment for all at-risk infants NICUs was US$ 80 per infant. The additional cost to the SUS for one year would be US$ 556 640 for a ROP program with 52% coverage, increasing to US$ 856 320 for 80% coverage, and US$ 1.07 million or 100% coverage. CONCLUSIONS: The results of this study indicate that providing ROP care is affordable within the framework of the SUS in Brazil, and might be feasible elsewhere in Latin America, considering the evidence of the effectiveness of ROP treatment and the social benefits achieved.

OBJETIVO: Evaluar el costo adicional de incorporar la detección y el tratamiento de la retinopatía de la prematuridad (RP) en los servicios de atención neonatal del Sistema Único de Salud (SUS) del Brasil. MÉTODOS: Se estableció un modelo de simulación determinístico en forma de árbol de decisión para calcular los costos directos del tamizaje y el tratamiento de la RP en las unidades de cuidados intensivos neonatales (UCIN), con base en los datos correspondientes a 869 lactantes prematuros con un peso al nacer inferior a 1 500 g examinados en seis UCIN gubernamentales de Rio de Janeiro, capital del estado del mismo nombre, donde la cobertura fue de 52% y se trató a un 7% de los lactantes. Todos los parámetros de este estudio se extrapolaron a los cálculos de recién nacidos brasileños correspondientes al año 2010. Se calcularon los costos de la detección y el tratamiento, teniendo en cuenta el personal, el equipo y la capacitación, con base en los datos publicados y la opinión de los expertos. Se llevó a cabo un análisis de la repercusión presupuestaria considerando la población de recién nacidos prematuros, la cobertura del tamizaje y la incidencia de RP susceptible de tratamiento. Se realizaron análisis de sensibilidad en uno y dos sentidos. RESULTADOS: En Rio de Janeiro, los costos unitarios por recién nacido fueron de US$ 18 por cada examen, US$ 398 por tratamiento y US$ 29 por capacitación. El costo calculado del diagnóstico y el tratamiento de la RP en todos los lactantes en situación de riesgo de las UCIN fue de US$ 80 por lactante. El costo anual adicional para el SUS de un programa de RP con una cobertura de 52% sería de US$ 556 640, y ascendería a US$ 856 320 para una cobertura de 80%, y a US$ 1,07 millones si la cobertura fuera de 100%. CONCLUSIONES: Los resultados de este estudio indican que, teniendo en cuenta los datos probatorios de la eficacia del tratamiento de la RP y los beneficios sociales obtenidos, la prestación de asistencia a la RP es asequible en Brasil en el marco del SUS y podría ser factible en otros lugares de América Latina.

Health seeking behavior of the families of children with cataract attending an eye clinic in Rio de Janeiro, Brazil / Perfil de procura dos serviços de saúde pelas famílias de crianças com catarata assistidas em uma clínica oftalmológica no Rio de Janeiro, Brasil

PURPOSE: To determine the health-seeking behavior of the families of children presenting with congenital and developmental cataract attending "Instituto Brasileiro de Oftalmologia" (IBOL), Rio de Janeiro, Brazil. METHODS: Caregivers of consecutive eligible children were interviewed using a pretested questionnaire and medical records were reviewed to collect information about their health-seeking behavior and socioeconomic status in June and July of 2008. RESULTS: Data from 70 children were gathered, from which 42 (60.0 percent) had bilateral disease. Fifty-eight (82.9 percent) cases were considered congenital and 12 (17.1 percent) developmental. Presentation delay was observed in 33 (47.1 percent) children. Having insurance (adjusted OR 0.17; 95 percent CI 0.04 - 0.82) and being the only child (adjusted OR 0.16; 95 percent CI 0.04 - 0.69) decreased likelihood of late presentation. CONCLUSIONS: Delayed detection and presentation for treatment of non-traumatic pediatric cataract are still significant problems in the state of Rio de Janeiro. Early recognition as well as prompt referral and appropriate treatment have to be improved, especially at the public sector.

OBJETIVO: Determinar o padrão da procura dos serviços de saúde pelas famílias de crianças com catarata congênita e de desenvolvimento, assistidas no Instituto Brasileiro de Oftalmologia (IBOL), Rio de Janeiro, Brasil. MÉTODOS: Os responsáveis das crianças foram entrevistados utilizando um questionário pré-testado e seus prontuários foram revisados para obter informações sobre a procura dos serviços de saúde pelas famílias, assim como suas condições socioeconômicas, nos meses de junho e julho de 2008. RESULTADOS: Dados de 70 crianças foram obtidos, das quais 42 (60 por cento) tinham doença bilateral. Cinquenta e oito (82,9 por cento) casos foram considerados congênitos e 12 (17,1 por cento) de desenvolvimento. Atraso na apresentação foi observado em 33 (47,1 por cento) crianças. O fato de a criança possuir seguro-saúde (OR ajustado 0,17; 95 por cento IC 0,04 - 0,82) e ser filho único ( OR ajustado 0,16; 95 por cento IC 0,04 - 0,69) reduziu a probabilidade de apresentação tardia. CONCLUSÕES: A detecção e apresentação tardia para tratamento da catarata pediátrica não-traumática são problemas ainda significantes no estado do Rio de Janeiro. O reconhecimento precoce assim como o encaminhamento imediato e tratamento apropriado tem que ser melhorados, principalmente no serviço público de saúde.