Cost-effectiveness of the newborn screening of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Full title: Cost-effectiveness of the newborn screening of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG)

Authors: Castilla I, Vallejo-Torres L, Linertová R, Ferrer J, Rivas Wagner E, Dulín-Íñiguez E, Valcárcel-Nazco C, García-Pérez L, Serrano-Aguilar P

Contact person: Iván Castilla Rodríguez (


Homogenization of neonatal screening programs, offered in the different regions of Spain, is one of the objectives of the spanish Ministry of Health, Social Services and Equality. Following the decision to include seven diseases in the unique screening program offered by the National Health System, now a possible inclusion of 3-hydroxy-3-methylglutaryl CoA lyase deficiency (HMG) is being studied. There are several aspects to consider in the decision to incorporate new diseases in neonatal screening programs, including the study of the efficiency of the program, comparing the costs and health outcomes of early detection of disease with detection through symptomatic manifestation.

To determine the efficiency, in terms of cost-effectiveness, of the incorporation of HMG early detection in the neonatal screening program and its budgetary impact.

We have developed a cost-effectiveness model comparing two alternatives: implanting HMG neonatal screening against the clinical detection of this disease. The model follows the infants throughout their life, reflecting the impact of preventive treatments that can be set up through early detection. The perspective of the analysis was the one of National Health System, taking into account the direct costs, expressed in euro 2014. Costs relating to the screening program were estimated including the cost of screening tests, confirmatory tests and costs of treatment and monitoring of early detected patients. These costs were compared to the costs of treating HMG not detected through newborn screening. In turn, we compare the costs with the effectiveness of the screening program. The effectiveness was measured in quality-adjusted life years (QALY) gained. Both costs and effectiveness were discounted at 3%. Probabilistic sensitivity analysis was performed using Monte Carlo simulations. Finally the budgetary impact of incorporating neonatal screening of HMG for a five years time horizont was analyzed.

According to the results of this economic evaluation, the neonatal screening of HMG is more expensive and there is no evidence that it is more effective than the clinical detection. Considering the number of births per year in Spain of 450,000, the increase in costs if HMG screening is implemented would be € 26,759.90 (€ 0.06 per infant). Under a number of assumptions, probabilistic sensitivity analysis estimated a 23.8% probability that the neonatal screening for this disease is cost-effective for a willingness to pay  of € 30,000 / QALY. The budgetary impact for the total annual births was estimated for Spain at € 26,290 the first year, remaining almost constant up to five years (€ 26,611).

With the evidence available at the time of preparation of this report we can not conclude that the introduction of HMG into the neonatal screening is cost-effective. Under a number of assumptions, and a willingness to pay at € 30,000 / QALY, the probability that the HMG screening is cost-effective is low, around 13.5%.