Abstract
Objectives
To estimate the economic burden of patients diagnosed with Gaucher disease at a public hospital from a societal perspective.
Methods
Data from 30 Gaucher patients visiting the Genetic Clinic of the Department of Pediatrics at the study site in Mumbai was analyzed between January 2019 and January 2021. A cost of illness analysis was undertaken to estimate direct, indirect and intangible costs. Costs in treated and treatment naive groups were compared.
Results
The total cost (direct and indirect) for 30 patients was ₹25,45,74,743/- (3440199.2 USD). Majority of this cost (99.8%) was due to direct costs of which medications [Enzyme replacement therapy (ERT) and Substrate reduction therapy (SRT)] constituted 98.8%. The notional cost was ₹1,43,94,695. Total costs of 14 treated patients were ₹25,29,67,279 and 16 treatment naive patients were ₹16,15,064 with a ratio of 157:1. Direct costs and cost of school absenteeism were significantly higher in the treated subgroup. Overall, direct, total costs and costs of school absenteeism were significantly associated with age and disease duration.
Conclusions
The economic burden of Gaucher disease is a staggering amount. This is an underestimate, as the expenses are highly subsidized in a public health facility. The highest contributor to cost component was direct costs, especially medication costs. Against the backdrop of the National Policy for Rare Diseases, resource allocation towards Gaucher disease should consider short term measures for judicious funding or reimbursement of disease-specific therapy and long-term cost-effective measures for promoting preventive strategies as the most practically feasible solution to reduce this economic burden.
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References
Van Dussen L, Biegstraaten M, Hollack CE, Dijkgraaf MG. Cost effectiveness of enzyme replacement therapy for type 1 gaucher disease. Orphanet J Rare Dis. 2014;9:51.
Pastores GM, Hughes DA, Gaucher Disease. 2000 Jul 27 [Updated 2023 Mar 9]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1269/.
Muranjan M, Karande S. Enzyme replacement therapy in India: lessons and insights. J Postgrad Med. 2018;64:195–9.
Schuller Y, Hollak CE, Biegstraaten M. The quality of economic evaluations of ultra-orphan drugs in Europe - a systematic review. Orphanet J Rare Dis. 2015;10:92.
Ministry of Health & Family Welfare. National Policy for Rare Diseases, 2021. Available at: https://main.mohfw.gov.in/sites/default/files/Final%20NPRD%2 C%202021.pdf. Accessed on 20 Sept 2021.
Kaplan P, Baris H, De Meirleir L, et al. Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr. 2013;172:447–58.
Puri RD, Kapoor S, Kishnani PS, et al. Diagnosis and management of Gaucher disease in India - consensus guidelines of the Gaucher disease task force of the society for Indian academy of medical genetics and the Indian academy of pediatrics. Indian Pediatr. 2018;55:143–53.
Saleem SM. Modified kuppuswamy socioeconomic scale updated for the year 2020. Indian J Forensic Commun Med. 2020;7. https://doi.org/10.18231/j.ijfcm.2020.001.
Tarricone R. Cost-of-illness analysis: what room in health economics? Health Policy. 2006;77:51–63.
Ministry of Health. Report on New Zealand Cost-of-Illness Studies on Long-Term Conditions, 2009. Wellington: Ministry of Health. Available at: https://www.health.govt.nz/publication/report-new-zealand-cost-illness-studies-long-term-conditions. Accessed on 16 June 2022.
Xie F, Thumboo J, Fong K, et al. A study on indirect and intangible costs for patients with knee osteoarthritis in Singapore. Value Health. 2008;11:84–90.
Jo C. Cost-of-illness studies: concepts, scopes and methods. Clin Mol Hepatol. 2014;20:327–37.
Exchange Rates UK [Internet]. Available at: https://www.exchangerates.org.uk/historical/USD/06_11_2020. Accessed on 6 Nov 2020.
Clarke JTR, Amato D, Deber RB. Managing public payment for high-cost, high-benefit treatment: enzyme replacement therapy for Gaucher’s disease in Ontario. CMAJ. 2001;165:595–6.
Nalysnyk L, Rotella P, Jason JC, Hamed A, Weinreb N. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology. 2017;22:65–73.
Davari M, Nabizadeh A, Kadivar M, Asl AA, Sarkheil P. Healthcare resource utilization and cost of care for Gaucher patients in Iran. J Diabetes Metab Disord. 2019;18:127–32.
Krug BC, Schwartz IV, de Oliveira LF, et al. The management of Gaucher disease in developing countries: a successful experience in Southern Brazil. Public Health Genomics. 2010;13:27–33.
Revel-Vilk S, Szer J, Mehta A, Zimran A. How we manage Gaucher disease in the era of choices. Br J Haematol. 2018;182:467–80.
Acknowledgements
The authors are grateful to the Product Development Center (PDC) of the Indian Council of Medical Research (ICMR) under whose aegis this work was carried out.
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MM conceptualized the study, designed the study protocol, supervised collection and analysis of data and wrote the manuscript; NJG contributed intellectually for framing the study protocol and supervised statistical analysis, critically revised the manuscript for important intellectual content and edited and approved the final draft of the manuscript; SPM drafted the study protocol, collected and analyzed data and approved the final manuscript. MM will act as guarantor for the paper.
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The study was presented as a poster at the 22nd EMBICON 2021 (Annual Conference of Indian Academy of Pediatrics, Mumbai) and won second prize.
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Mhatre, S.P., Muranjan, M. & Gogtay, N.J. Economic Burden of Gaucher Disease at a Tertiary Care Public Hospital in Mumbai. Indian J Pediatr 91, 463–469 (2024). https://doi.org/10.1007/s12098-023-04740-4
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DOI: https://doi.org/10.1007/s12098-023-04740-4