PDF(Pubmed)
Abstract：
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.
摘要：
高达25%的小儿白内障病例是遗传的。文献中关于疑似遗传性小儿白内障的全外显子组测序（WES）成本的信息很少。可疑遗传性小儿白内障的分子诊断对于全面的遗传咨询很重要。我们用混合成本分析进行了部分经济评价，从巴西政府医疗保健系统的角度，使用报销数据和微观成本方法以及自下而上的技术来估计使用WES进行疑似遗传性小儿白内障的遗传诊断的成本。包括来自里约热内卢（RJ）29个家庭的110名参与者。消耗品的成本，人员和设备进行了计算。创建了两种方案：（1）参考方案包括来自RJ的疑似遗传性小儿白内障患者以及两名家庭成员。(2)考虑其他遗传疾病的替代方案，每月进行5280次考试。还进行了敏感性分析。在参考场景中，每次考试的总费用为700.09美元（USD），在另一种情况下，总费用为559.23美元。仅WES的成本在参考情景中为527.85美元，在替代情景中为386.98美元。敏感性分析显示，在这两种情况下，最大的成本与消耗品相关。经济评估可以帮助为政策决策提供信息，特别是在巴西等中等收入国家。
