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

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dc.contributor.authorNeves, Luiza M.
dc.contributor.authorPinto, Márcia
dc.contributor.authorZin, Olivia A.
dc.contributor.authorCunha, Daniela P.
dc.contributor.authorAgonigi, Bruna N. S.
dc.contributor.authorMotta, Fabiana L.
dc.contributor.authorGomes, Leonardo H. F.
dc.contributor.authorHorovitz, Dafne D. G.
dc.contributor.authorAlmeida Jr., Daltro C.
dc.contributor.authorMalacarne, Jocieli
dc.contributor.authorGuida, Leticia
dc.contributor.authorBraga, Andressa
dc.contributor.authorCarvalho, Adriana Bastos
dc.contributor.authorPereira, Eduardo
dc.contributor.authorRodrigues, Ana Paula S.
dc.contributor.authorSallum, Juliana M. F.
dc.contributor.authorZin, Andrea A.
dc.contributor.authorVasconcelos, Zilton F. M.
dc.date.accessioned2025-02-04T13:34:43Z
dc.date.available2025-02-04T13:34:43Z
dc.date.issued2024
dc.description.abstractUp 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 sce- nario 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.
dc.identifier.citationNeves LM, Pinto M, Zin OA, Cunha DP, Agonigi BNS, Motta FL, Gomes LHF, Horovitz DDG, Almeida DC Jr, Malacarne J, Guida L, Braga A, Carvalho AB, Pereira E, Rodrigues APS, Sallum JMF, Zin AA, Vasconcelos ZFM. The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis. J Community Genet. 2024 Jun;15(3):235-247. doi: 10.1007/s12687-024-00708-9.
dc.identifier.otherDOI: 10.1007/s12687-024-00708-9
dc.identifier.urihttps://dspace.inc.saude.gov.br/handle/123456789/785
dc.language.isoen
dc.publisherJournal of Community Genetics
dc.subjectWhole-exome sequencingen
dc.subjectMicrocostingen
dc.subjectMixed costing health economicsen
dc.subjectCongenital cataractsen
dc.subjectPediatric cataractsen
dc.subjectHereditary cataracts.en
dc.titleThe cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis
dc.typeArticle
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