Galactosemia cost-effectiveness of therapy

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]


The cost-effectiveness of the therapy of galactosemia has primarily been studied with respect to the screening program for the disease and the benefits reaped from it.

Cost-Effectiveness of Therapy

The screening cost of galactosemia is less than the benefits i.e. QALYs achieved through screening, thereby making its implementation cost-effective[1]. Moreover, decreasing the false-positives [2], using healthcare information systems[3] and economical diagnostic techniques, establishing a centralized laboratory [4] and combining with other screening programs [5] will help in further reducing the financial burden. The efficiency of the neonatal screening policy is also inversely related to the prevailing interest rate in the economy[6].


  1. Hatam N, Askarian M, Shirvani S, Siavashi E (2017). "Neonatal Screening: Cost-utility Analysis for Galactosemia". Iran J Public Health. 46 (1): 112–119. PMC 5401919. PMID 28451536.
  2. Carroll AE, Downs SM (2006). "Comprehensive cost-utility analysis of newborn screening strategies". Pediatrics. 117 (5 Pt 2): S287–95. doi:10.1542/peds.2005-2633H. PMID 16735255.
  3. Hsieh SH, Hsieh SL, Chien YH, Weng YC, Hsu KP, Chen CH; et al. (2010). "Newborn screening healthcare information system based on service-oriented architecture". J Med Syst. 34 (4): 519–30. doi:10.1007/s10916-009-9265-x. PMID 20703906.
  4. Lund AM, Hougaard DM, Simonsen H, Andresen BS, Christensen M, Dunø M; et al. (2012). "Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening". Mol Genet Metab. 107 (3): 281–93. doi:10.1016/j.ymgme.2012.06.006. PMID 22795865.
  5. Padilla CD, Lam ST (2008). "Issues on universal screening for galactosemia". Ann Acad Med Singap. 37 (12 Suppl): 39–3. PMID 19904445.
  6. Camelo JS, Fernandes MI, Maciel LM, Scrideli CA, Santos JL, Camargo AS; et al. (2009). "Galactosaemia in a Brazilian population: high incidence and cost-benefit analysis". J Inherit Metab Dis. 32 Suppl 1: S141–9. doi:10.1007/s10545-009-1112-1. PMID 19418240.

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