Full title: Cost-effectiveness of the newborn screening of biotinidase deficiency
Authors: Vallejo Torres L, Castilla Rodríguez I, Cuéllar Pompa L, Couce Pico ML, Pérez Cerdá C, Martín Hernández E, Pineda Marfa M, Campistol Plana J, Serrano-Aguilar P
Contact person: Laura Vallejo Torres (firstname.lastname@example.org)
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 three additional conditions, including biotinidase deficiency. 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 incorporating biotinidase deficiency to the series of conditions being screened in the newborn screening programme in Spain, and to determine the budget impact of its implementation.
We developed a cost-effectiveness model that compared two options: including biotinidase deficiency to the diseases screened in 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, capturing the impact on the long term of the early detection. 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. 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 Quality Adjusted Life Years (QALY), which combine information on the quality of life and length of life of the individuals. Health outcomes and costs were discounted at a 3% rate. We undertook a probabilistic sensitivity analysis using Monte Carlo simulation.
According to the results of this study, newborn screening for biotinidase deficiency is both cheaper and more effective. When taking the long term perspective, the cost-savings related to the programme per child are 1.4 € and 2.4 €, when the cost of the screening test is 1.9 € and 0.9 €, respectively. The results for the budget impact, which considers the incremental cost per year of the programme, shows that the cost-savings comes from treatment costs avoided in the long run. The programme would generate cost-savings from the 6th or from the 15th year, depending on the price of the test, 1.9 € and 0.9 €, respectively. The results were found to be robust in the sensitivity analysis, estimating that newborn screening for biotinidase deficiency is cost-effective with a probability of 94% and for a willingness to pay per QALY gain of 30,000 €/QALY.
Newborn screening for biotinidase deficiency was found to be cost-effective, leading to both a clinical improvement and a reduction in the long term costs when considering the benefits of early detection in the long run.