ETS CN

2006, ETS CN, Informes

Newborn screening of congenital errors of metabolism using tandem mass spectrometry

Full title: Cost-effectiveness of the newborn screening of congenital errors of metabolism using tandem mass spectrometry

Authors: Ramos Goñi JM, Serrano Aguilar PG, Espada Sáenz-Torres M, Posada de la Paz M.

Contact person: Juan Manuel Ramos Goñi (juanmanuel.ramosgoni@gmail.com)

Summary

Background

Congenital errors of metabolism (ECM) are inherited basic biochemistry metabolic diseases. Some ECM meets the required criteria to be included in newborn screening programs by means of minimally invasive and low costly tests. The tandem mass spectrometry (MS/MS) introduction in neonatal screening is an effective and potentially cost–effective alternative for ECM screening. An Avalia-t recent report confirms the MS/MS effectiveness for henylketonuria (PKU) and deficit acyl-CoA dehydrogenase medium chain (MCADD) screening. PKU is an ECM that originates from deficits of the liver enzyme phenylalanine hydroxylase. The incidence of the disease in Spain is about 7.87 cases/100.000 infants. MCADD is another low frequency ECM that affects the -oxidative metabolism of fatty acids. The incidence in Spain is 5-6 cases/100.000 infants.

Objective

The objective of this study is to determine the cost-effectiveness ratio of the MS/MS introduction for PKU and MCADD screening, in ECM neonatal screening programs of Spanish Communities.

Methods

A decision tree model composed by two main branches was developed. One of these represents a scenario where MS/MS has been implanted for PKU and MCADD screening, while the another branch represents a scenario without MS/MS technology, so in this case, the screening program doesn’t cover MCADD. The analysis was performed by the NHS perspective and the time horizon is the lifetime of infants. The parameters of the model were obtained from one Spanish newborn screening program, scientific literature, and recommendations from experts in the clinical monitoring of these pathologies. The selected effectiveness measure in this study has been years of life gained (LYG). The applied discount rate was 3%. We performed a stochastic and multivariate sensitivity analysis through Monte Carlo method, so acceptability curves, net health benefit and expected value of perfect information could be calculated.

Results

The incremental cost-effectiveness ratio (ICER) for screening program in Spain with a single screening centre is € 5,757 /LYG, with a confidence interval (CI) [€ 5,707 /LYG; € 5,808 /LYG]. In case of decentralized screening programs along Autonomous Communities, with a number of annual births around 90,000-100,000; the ICER is € 5,936 /LYG and CI is[€ 5,866 /LYG; € 5,986 /LYG]. However, for communities with a number of births around 5,000 /year or less, the ICER is € 30,554 /LYG and CI is [€ 30,236 /LYG; € 30,877 /LYG]. For a willingness to pay € 30,000 /LYG, the probabilities of right decision in each scenario listed above are 100%, 100% and 43.28% respectively.

Conclusions

The MS/MS introduction for neonatal ECM screening offers a favourable cost-effectiveness ratio when it is used to early detection of PKU and MCADD. When you have evidence on MS/MS screening effectiveness for other ECM, the introduction of this ECM in MS/MS screening program will contribute to improve the cost-effectiveness ratio. The cost-effectiveness ratio becomes more and more favourable when larger is the annual volume of neonatal samples to be processed with the MS/MS, remaining more or less constant for a number superior to 30-40 thousand infants per year. The findings of this report support the introduction of this technology for ECM screening in the Spanish Autonomous Communities, when the number of alive newborns is superior to 5,000 per year. Neonatal screening programs based on MS/MS, in territorial areas with less than 5 thousand infants per year, do not reach favourable costeffectiveness ratios.

 

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2012, ETS CN, Informes

Expanded newborn screening of congenital errors of metabolism using tandem mass spectrometry

Full title: Cost-effectiveness of the expanded newborn screening of congenital errors of metabolism using tandem mass spectrometry

Authors: Castilla I, Arvelo-Martín A, Valcárcel-Nazco C, Linertová R, Serrano-Aguilar P, Ruiz-Pons M, Posada M, Dulín-Íñiguez E, Espada M, Zubizarreta R.

Contact person: Iván Castilla Rodríguez (ivan.castillarodriguez@sescs.es)

Summary

Introduction

The incorporation of tandem mass spectrometry to neonatal screening for inborn errors of metabolism has opened the door for expanding those screening programs since, potentially, a large number of diseases may be efficiently screened. However, for many of these diseases, the evidence of the benefit of early detection is still scarce or nonexistent.

Objectives

To determine the efficiency of incorporating five new diseases to a screening program that already uses tandem mass spectrometry for the early detection of MCADD and PKU. These new congenital conditions are homocystinuria, LCHADD, maple syrup urine disease, isovaleric acidemia and glutaric aciduria type 1.

Method

We have developed a decision tree model with two main branches. The first branch incorporates a new pathology to the screening program, whereas the second branch assumes that this condition is not being screened. The same model is used sequentially to estimate the efficiency in terms of cost-effectiveness of incorporating new pathologies, each time adding the accumulated cost and effectiveness of previous pathologies. The analysis incorporates the social perspective, presenting the lifetime costs and effects for the newborns studied. The measure of effectiveness is life-years gained, which have been discounted, as the costs, at a rate of 3%. Costs were expressed as 2012 euros. We performed a multivariate and stochastic sensitivity analysis by means of Monte Carlo simulations, allowing us to compute the acceptability curves and the expected value of perfect information.

Results

The implementation of a screening program for PKU and MCADD using tandem mass spectrometry has an incremental cost of € 3.93 [confidence interval 95%: € 3.02, € 4.71] and an incremental effectiveness of 0.00017 life-years gained [0.00011, 0.00026] by newborn, resulting an incremental cost-effectiveness ratio of 22,774.96 €/AVG [11,734.34, 44,517.73]. Incorporating five new pathologies to this screening program involves an incremental cost of € 11.62 [€ 6.04, € 17.23], and an incremental effectiveness of 0.00042 LYG [0.00028, 0.00057], resulting an incremental cost-effectiveness ratio of 27,607.38 €/AVG [10,567.35, 62,628.36].

Conclusions

The expanded newborn screening program to the five selected pathologies is efficient, on average, for a willingness to pay of 30,000 €/LYG. However, the high uncertainty surrounding the results points to the desirability of further research to reduce the variability in the parameter estimates and increase the robustness of the findings.

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2012, ETS CN, Informes

Cost-effectiveness of the newborn screening of sickle cell disease

Full title: Cost-effectiveness of the newborn screening of sickle cell disease

Authors: Castilla I, Valcárcel-Nazco C, Vallejo-Torres L, Cela E, Posada M, Dulín-Íñiguez E, Espada M, Rausell D, Mar J, Arrospide A, Serrano-Aguilar P.

Contact person: Iván Castilla Rodríguez (ivan.castillarodriguez@sescs.es)

Summary

Introduction

Neonatal screening for sickle cell disease allows the introduction of prophylactic treatments to reduce the incidence and the morbi-mortality associated with the most severe complications of this disease. However, being a rare disease, the cost-effectiveness of this secondary prevention strategy should be carefully assessed.

Objectives

To determine the efficiency of incorporating the early detection of sickle cell disease to neonatal screening programs already implemented in Spanish regions.

Method

A discrete event simulation model has been developed that compares two alternatives: implementing newborn screening for sickle cell disease in a given population that already has a neonatal screening program; or continuing with the clinical detection of this pathology. The model follows the newborns for 10 years, reflecting the impact of preventive treatments that can be established through early detection. The perspective of the analysis was that of the National Health System, taking into account the direct healthcare costs, expressed as 2013 euros. The effectiveness of the intervention was measured by using life expectancy and health related quality of life. Both the costs and effectiveness were discounted at 3%. We performed a probabilistic sensitivity analysis using 2nd order Monte Carlo simulations, which allowed the calculation of acceptability curves and the expected value of perfect information.

Results

Given the estimated birth prevalence in Spain (1:5591), there is a difference in effectiveness of 0.00005 LYGs per infant that favors HbS screening if a time horizon of 10 years is considered. By keeping costs per screened newborn at or below 1 €, neonatal screening for HbS saves costs for the same period. Screening is still efficient, for a willingness to pay of € 30,000 / LYG, if costs per screened newborn are below 2.5 €, incurring a global additional cost of 1.27 € per screened newborn, and obtaining an ICER of € 24,495.72 / LYG (€ 25,343.37 / QALY).

Conclusions

Given the estimated birth prevalence of sickle cell disease in Spain, neonatal screening of this disease is cost-effective for a time horizon of 10 years and setting a willingness to pay of € 30,000 / QALY if the cost per screened newborn does not exceed 2.5 €. The uncertainty surrounding this decision is quite high, being the probability of the screening to be cost-effective not higher than 50% in any of the scenarios assessed.

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2012, ETS CN, Informes

Cost-effectiveness of the newborn screening of cystic fibrosis in Spain

Full title: Cost-effectiveness of the newborn screening of cystic fibrosis in Spain

Authors: Valcárcel-Nazco C, Oliva Hernández C, Velasco González V, Cuéllar-Pompa L, Castilla I, Vallejo-Torres L, Serrano-Aguilar P.

Contact person: Cristina Valcárcel Nazco (cristina.valcarcelnazco@sescs.es)

Summary

Introduction

CF is the autosomal recessive genetic lethal disease most common between white people. It affects many vital organs, being lung disease the responsible for most of deaths. Its incidence in Spain is estimated between 1/6.496 and 1/4.500 newborns per year so CF is included among rare disease.

During the last two decades each Spanish autonomous community has decided the inclusion of newborn screening programs, such as CF neonatal screening, requiring neither prior technology assessment reports nor consensus within the NHS.

Objectives

To determine the cost-effectiveness ratio of each of the main strategies for neonatal screening for cystic fibrosis in Spain.

Method

We have performed a full economic evaluation that compares the cost-effectiveness ratio of each of the main CF newborn screening strategies that are currently being carried out in Spain: IRT/IRT, IRT/DNA, IRT/IRT/DNA and IRT/DNA/IRT versus no screening. We have developed a decision tree with five main branches representing each strategy to be evaluated and the option of not screening the disease. The measures of effectiveness used were LYGs and QALYs. Both cost and effects were discounted at a rate of 3%. A WTP of € 30,000/LYG and € 30,000/QALY was considered. Costs were expressed in euros of 2013.

A probabilistic sensitivity analysis was performed by means of Monte Carlo simulations, allowing us to compute the acceptability curves and the expected value of perfect information.

To determine the parameters that caused greater variability in the model results, ANCOVA models were applied to Monte Carlo simulations.

Results

Results of the economic evaluation model show that newborn screening for CF is an efficient alternative. The IRT+IRT+DNA screening strategy has a lower ICER compared with no screening (8,801.46 €/LYG and 4,024.85 €/QALY). The screening strategy with higher ICER is IRT+DNA+IRT (16,394.59 €/LYG y 7,497.14 €/QALY).

Conclusions

CF neonatal screening is an efficient alternative in terms of cost-effectiveness from the perspective of the NHS, resulting in a profit on health outcomes of patients in both LYG and QALY.

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2013, ETS CN, Informes

Cost-effectiveness of the newborn screening of biotinidase deficiency

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 (laura.vallejotorres@sescs.es)

Summary

Introduction

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.

Aims

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.

Methods

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.

Results

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.

Conclusions

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.

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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)

Summary

Introduction

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.

Objectives

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.

Method

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.

Results

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.

Conclusions

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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2013, ETS CN, Informes

Cost-effectiveness of the newborn screening of congenital adrenal hyperplasia

Full title: Cost-effectiveness of the newborn screening of congenital adrenal hyperplasia

Authors: Castilla I, Vallejo-Torres L, Rica-Echevarría I, Rodríguez-Sánchez A, Dulín-Íñiguez E, Espada M, Rausell D, Valcárcel-Nazco C, Cuéllar-Pompa L, Serrano-Aguilar P.

Contact person: Iván Castilla Rodríguez (ivan.castillarodriguez@sescs.es)

Summary

Introduction

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 congenital adrenal hyperplasia. 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.

Objectives

To evaluate the cost-effectiveness of incorporating congenital adrenal hyperplasia to the series of conditions being screened in the newborn screening programme in Spain, and to determine the budget impact of its implementation.

Method

We developed a cost-effectiveness model that compared two options: including congenital adrenal hyperplasia to the diseases screened in the national screening programme and to no include this condition in the early detection programme and diagnose the condition by clinical diagnosis. The model takes into account to 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 in Spain, expressing the costs in 2013 prices. We estimated the cost 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 life expectancy, by taking into account deaths avoided by screening, and expressed as life-years gained (LYG). Health outcomes and costs were discounted at a 3% rate. We undertook a one-way sensitivity analysis on those parameters with the highest impact on the results and those surrounded by the highest uncertainty, and a probabilistic sensitivity analysis using Monte Carlo simulation.

Results

According to the results of this study, newborn screening for congenital adrenal hyperplasia is more costly and more effective than clinical detection. For a lifetime horizon, the incremental costs per newborn are € 1.71, and the incremental life years per newborn are 0.00022, giving an incremental cost effectiveness ratio of € 7,899/LYG, which is below € 30,000/LYG, i.e. the usual threshold used in Spain. The sensitivity analysis estimated that newborn screening for congenital adrenal hyperplasia is cost-effective with a probability of 88.5% and for a willingness to pay per life year gain of € 30,000/LYG. Nevertheless, there is a high uncertainty surrounding the sensitivity of the clinical detection (especially in the salt-wasting form).

Conclusions

According to the available evidence when developing this report, the introduction of neonatal screening for congenital adrenal hyperplasia would be cost effective for a willingness to pay € 30,000/LYG, assuming a clinical sensitivity for the salt-wasting form of 85% when screening is not available. Nevertheless, these results should be considered carefully due to the high uncertainty surrounding the estimation of the clinical sensitivity.

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2014, ETS CN, Informes

Cost-effectiveness of the newborn screening of tyrosinaemia type 1

Full title: Cost-effectiveness of the newborn screening of tyrosinaemia type 1

Authors: Vallejo-Torres L, Castilla I, Dulín-Íñiguez E, Espada M, Rausell D, Valcárcel-Nazco C, Cuéllar-Pompa L, Serrano-Aguilar P.

Contact person: Laura Vallejo Torres (laura.vallejotorres@sescs.es)

Summary

Introduction

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 additional conditions, including tyrosinaemia type 1. 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.

Objectives

To evaluate the cost-effectiveness of an early detection programme for tyrosinaemia type 1 in the framework of thenewborn screening programme in Spain, and to determine the budget impact of its implementation.

Method

We developed a cost-effectiveness model that compared two options: including tyrosinaemia type 1 to the diseases screened in the national screening programme and to no include this condition in the early detection programme and diagnose the condition by clinical diagnosis. The model takes into account to 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 in Spain, expressing the costs in 2013 prices. We estimated the cost 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 Year (QALYs). Health outcomes and costs were discounted at a 3% rate. We undertook a probabilistic sensitivity analysis using Monte Carlo simulation.

Results

According to the results of this study, newborn screening for tyrosinaemia type 1 is more costly and more effective than clinical detection. For a lifetime horizon, the incremental costs per newborn are 1.13 €, and the incremental QALY gain per newborn is 0.00003, yieldind to an incremental cost effectiveness ratio of 40,670 €/QALY. The sensitivity analysis, shows that the probability that newborn screening for tyrosinaemia type 1 is cost-effective is of 24% for a willingness to pay of 30,000 €/QALY. The budget impact analysis shows that the initial additional cost per child of the newborn screening programme of tyrosinaemia type 1 is low, around 0.44 € per newborn.

Conclusions

This study estimates that the incremental cost of the introduction of neonatal screening for tyrosinaemia type 1 is around 40,000€/QALY, which is above the reference willingness to pay of 30,000 €/QALY commonly used in these types of studies in Spain. For willingness to pay higher than 40,000 €/QALY, the inclusion of tyrosinaemia type 1 in the newborn screening programme would be considered cost-effective. The budget impact analysis shows that the incremental initial cost is relatively low.

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2014, ETS CN, Informes

Cost-effectiveness of the newborn screening of primary carnitine deficiency

Full title: Cost-effectiveness of the newborn screening of primary carnitine deficiency

Authors: Castilla I, Vallejo-Torres L, Couce ML, Del Toro M, Gorostiza I, García-Hernández L, Dulín-Íñiguez E, Espada M, Valcárcel-Nazco C, García-Pérez L, Posada M, Cuéllar-Pompa L, Serrano-Aguilar P.

Contact person: Iván Castilla Rodríguez (ivan.castillarodriguez@sescs.es)

Summary

Introduction

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 primary carnitine 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.

Objectives

To evaluate the cost-effectiveness of incorporating primary carnitine deficiency to the series of conditions being screened in the newborn screening programme in Spain, and to determine the budget impact of its implementation.

Method

We developed a cost-effectiveness model that compared two options: to include primary carnitine deficiency to the diseases screened in the national screening programme, and to diagnose this condition by clinical diagnosis. The model takes into account to 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 in Spain, expressing the costs in 2014 prices. We estimated the cost 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 in life years gained. Health outcomes and costs were discounted at a 3% rate. We undertook a probabilistic sensitivity analysis using Monte Carlo simulation. Finally, we analysed the budget impact of including newborn screening for primary carnitine deficiency using a five-years’ time horizon.

Results

According to the results of this study, newborn screening for primary carnitine deficiency is more costly but more effective than clinical detection. For a lifetime horizon and the estimated amount of neonates who born in Spain annually, around 450,000, the incremental costs are 249,076 € (0.55 € per newborn), and the incremental LYs are 17.52 (0.00004 per newborn), giving an incremental cost effectiveness ratio of 14,217.56 €/LY. The results were found to be sensitive to the probability of sudden infant death among those cases that remain undetected. However, the probabilistic sensitivity analysis estimated that newborn screening for primary carnitine deficiency is cost-effective with a probability of 73.9% and for a willingness to pay of 30,000 €/LY. The budget impact for the Spanish newborn children was 49,153 € first year and 72,459 € fifth year.

Conclusions

The introduction of neonatal screening for primary carnitine deficiency is cost effective for a willingness to pay 30,000 €/LY, and the probability of being cost-effective is around 73.9%.

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2014, ETS CN, Informes

Cost-effectiveness of the newborn screening of long-chain acyl-CoA dehydrogenase deficiency

Full title: Cost-effectiveness of the newborn screening of long-chain acyl-CoA dehydrogenase deficiency

Authors: Castilla I, Vallejo-Torres L, Couce ML, Gorostiza I, García-Hernández L, Dulín-Íñiguez E, Espada M, Valcárcel-Nazco C, García-Pérez L, Posada M, Cuéllar-Pompa L, Serrano-Aguilar P

Contact person: Iván Castilla Rodríguez (ivan.castillarodriguez@sescs.es)

Summary

Introduction

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 very long-chain acyl-CoA dehydrogenase deficiency (VLCADD). 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.

Objectives

To evaluate the cost-effectiveness of incorporating VLCADD to the series of conditions being screened in the newborn screening programme in Spain, and to determine the budget impact of its implementation.

Method

We developed a cost-effectiveness model that compared two options: to include VLCADD to the diseases screened in the national screening programme, and to diagnose this 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 in Spain, expressing the costs in 2014 prices. We estimated the cost 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 in life years gained. Health outcomes and costs were discounted at a 3% rate. We undertook a probabilistic sensitivity analysis using Monte Carlo simulation. Finally, we analysed the budget impact of including newborn screening for VLCADD using a five years’ time horizon.

Results

According to the results of this study, newborn screening for primary carnitine deficiency is more costly but more effective than clinical detection. For a lifetime horizon and the estimated amount of neonates who born in Spain annually, around 450,000, the incremental costs are 260,936 € (0.58 € per newborn), and the incremental LYs are 24.33 (0.000054 per newborn), giving an incremental cost effectiveness ratio of 10,723.97 €/LY. The results were found to be sensitive to the probability of sudden infant death among those cases that remain undetected, the probability of missing a case with clinical detection, and the proportion of symptomatic cases despite early detection. The probabilistic sensitivity analysis estimated that newborn screening for primary carnitine deficiency is cost-effective with a probability of 63.7% and for a willingness to pay of 30,000 €/LY. The budget impact for the Spanish newborn children was 67,956 € first year and 116,402 € fifth year.

Conclusions

The introduction of neonatal screening for VLCADD is cost effective for a willingness to pay 30,000 €/LY, and the probability of being cost-effective is around 63.7%.

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