The Cost of Hereditary Pediatric Cataract's Clinical and Genetic Diagnosis With Whole Exome Sequencing From a Middle-income Country Perspective: Can We See Any Gains?

Abstract Up to 25% of pediatric cataract cases are inherited. There is scarce information in the literature regarding the cost of whole exome sequencing (WES) for hereditary pediatric cataract. Molecular diagnosis of hereditary pediatric cataract is important for a comprehensive genetic counseling. We performed a partial economic evaluation using a microcosting approach with a bottom-up technique to estimate the cost of clinical and genetic diagnosis using WES for hereditary pediatric cataract under the Brazilian governmental healthcare system’s perspective. One hundred and ten participants from twenty-nine families from Rio de Janeiro city (RJ) were included. Direct costs of consumables, staff and equipment were used. Two scenarios were created: 1. Reference scenario included patients with hereditary pediatric cataract plus two family members in RJ. 2. Alternative scenario considered other genetic diseases resulting in 5,280 exams per month. Sensitivity analysis was performed. In the reference scenario the total cost per exam (clinical and genetic) was 609.51 United State Dollars (USD) and in the alternative scenario it was 541.20 USD. Considering only WES, its cost per exam was 455.29 USD in the reference and 386.98USD in the alternative scenarios. Sensitivity analysis showed that the most important costs were consumables in both scenarios. Economic evaluations can help inform policy decisions specially in middle-income countries such as Brazil.