The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis
The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis
Data
2024
Autores
Neves, Luiza M.
Pinto, Márcia
Zin, Olivia A.
Cunha, Daniela P.
Agonigi, Bruna N. S.
Motta, Fabiana L.
Gomes, Leonardo H. F.
Horovitz, Dafne D. G.
Almeida Jr., Daltro C.
Malacarne, Jocieli
Journal Title
Journal ISSN
Volume Title
Publisher
Journal of Community Genetics
Resumo
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 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.
Description
Palavras-chave
Whole-exome sequencing, Microcosting, Mixed costing health economics, Congenital cataracts, Pediatric
cataracts, Hereditary cataracts.
Citação
Neves 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.