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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.<\/jats:p>","DOI":"10.1007\/s12687-024-00708-9","type":"journal-article","created":{"date-parts":[[2024,5,10]],"date-time":"2024-05-10T13:01:46Z","timestamp":1715346106000},"page":"235-247","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis"],"prefix":"10.1007","volume":"15","author":[{"given":"Luiza M.","family":"Neves","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1rcia","family":"Pinto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia A.","family":"Zin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela P.","family":"Cunha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruna N. S.","family":"Agonigi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabiana L.","family":"Motta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo H. F.","family":"Gomes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dafne D. 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FIGUEIRA-IFF\/FIOCRUZ\u2010RJ\/MS (protocol code 21444619.0.0000.5269), 17 October 2019.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Informed consent was obtained from all patients for being included in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethics guidelines"}},{"value":"The authors declare that they have no conflict of interest. Luiza M. Neves declares she has no conflict of interest. M\u00e1rcia Pinto declares she has no conflict of interest. Olivia A. Zin declares she has no conflict of interest. Daniela P. Cunha declares she has no conflict of interest. Bruna N. S. Agonigi declares she has no conflict of interest. Fabiana L. Motta declares she has no conflict of interest. Leonardo H. F. Gomes declares he has no conflict of interest. Dafne D. G. Horovitz declares she has no conflinct of interest. Daltro C. Almeida Jr declares he has no conflinct of interest. Jocieli Malacarne declares she has no conflinct of interest. Leticia Guida declares she has no conflinct of interest. Andressa Braga declares she has no conflinct of interest. Adriana Bastos Carvalho declares she has no conflinct of interest. Eduardo Pereira declares he has no conflinct of interest. Ana Paula S. Rodrigues declares she has no conflinct of interest. Juliana M. F. Sallum declares she has no conflinct of interest. Andrea A. Zin declares she has no conflinct of interest. Zilton F. M. Vasconcelos has no conflict of interest.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}