2013, ETS CN, Informes

Cost-effectiveness of the newborn screening of classic galactosemia

Full title: Cost-effectiveness of the newborn screening of classic galactosemia

Authors: García Pérez L, Valcárcel Nazco C, Castilla Rodríguez I, Vallejo Torres L, Briones Godino P, Ruíz Pons M, Vitoria Miñana I, Cuéllar Pompa L, Serrano Aguilar P.

Contact person: Lidia García Pérez (lidia.garciaperez@sescs.es)



The Ministry of Health, Social Services and Equality aims to reduce the inequalities in the newborn screening programmes offered in the different regions in Spain. After the decision to increase to seven the number of conditions included in the early detection programme offered nationally, decisions makers are now considering the inclusion of classic galactosemia. Newborn screening programmes have to meet a series of requirements, including providing evidence on the cost-effectiveness of the programme, by comparing the costs and health outcomes of early detection to those related to the clinical diagnosis.


To evaluate the cost-effectiveness of a newborn screening programme for classic galactosemia in Spain, comparing health results and costs of the screening with the clinical diagnosis.


We developed a cost-effectiveness model that compared two options: including classic galactosemia to the national screening programme and to not include this condition in the early detection programme and diagnose the condition by clinical diagnosis. The model takes into account the life expectancy of the newborns. The perspective of the analysis was that of the National Health Service and the Health Care System for the Autonomy and Care of Dependent Persons in Spain, expressing the costs in 2013 prices. We estimated the costs related to the screening programme including screening tests, confirmation tests, as well as treatment and follow up costs of those detected by the programme. Two alternative types of tests screening, MS/MS and fluorometric techniques. These costs were compared with those related to the clinical diagnosis of the condition. The differences in the costs were then compared with the difference on the effectiveness. Effectiveness was measured using Life Years gained (LY). Health outcomes and costs were discounted at a 3% rate. We undertook deterministic analyses and a probabilistic sensitivity analysis using Monte Carlo simulation.


According to the results of this study, newborn screening for classic galactosemia is not cost-effective. For a lifetime horizon, the incremental costs per newborn are 6.49 €, and the incremental LYs per newborn are 0.000050135, giving an incremental cost effectiveness ratio of 129,464 €/LY. The sensitivity analysis shows the effect of the uncertainty on the results of the model. The sensitivity analysis estimated that the probability of a cost-effective classic galactosemia screening programme was inferior to 10% for a willingness to pay of 30,000 €/LY.


The introduction of neonatal screening for classic galactosemia is not cost effective for a willingness to pay of 30,000 €/LY.

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