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

IF 1.5 Q4 GENETICS & HEREDITY
Journal of Community Genetics Pub Date : 2024-06-01 Epub Date: 2024-05-10 DOI:10.1007/s12687-024-00708-9
Luiza M Neves, Márcia Pinto, Olivia A Zin, Daniela P Cunha, Bruna N S Agonigi, Fabiana L Motta, Leonardo H F Gomes, Dafne D G Horovitz, Daltro C Almeida, Jocieli Malacarne, Leticia Guida, Andressa Braga, Adriana Bastos Carvalho, Eduardo Pereira, Ana Paula S Rodrigues, Juliana M F Sallum, Andrea A Zin, Zilton F M Vasconcelos
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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.

从中等收入国家的角度看利用全外显子组测序对疑似遗传性小儿白内障进行基因诊断的成本:混合成本计算分析。
高达 25% 的小儿白内障病例是遗传性的。有关疑似遗传性小儿白内障的全外显子组测序(WES)费用的文献资料很少。对疑似遗传性小儿白内障进行分子诊断对于提供全面的遗传咨询非常重要。我们采用混合成本核算分析法进行了部分经济评估,利用报销数据和自下而上技术的微观成本核算方法,从巴西政府医疗保健系统的角度估算了使用 WES 对疑似遗传性小儿白内障进行基因诊断的成本。研究对象包括来自里约热内卢(RJ)29 个家庭的 110 名参与者。计算了消耗品、工作人员和设备的成本。共设计了两种方案:(1)参考方案包括里约热内卢的疑似遗传性小儿白内障患者及两名家庭成员。(2) 备选方案考虑了其他遗传疾病,因此每月检查人数为 5 280 人。还进行了敏感性分析。在参考方案中,每次检查的总费用为 700.09 美元,而在替代方案中,总费用为 559.23 美元。在参考方案中,仅 WES 的成本为 527.85 美元,在替代方案中为 386.98 美元。敏感性分析表明,两种方案中最大的成本都与耗材有关。经济评估有助于为决策提供信息,尤其是在巴西等中等收入国家。
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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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