Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency

Abstract

BACKGROUND AND OBJECTIVES: There are conflicting views as to whether testing for biotinidase deficiency (BD) ought to be incorporated into universal newborn screening (NBS) programs. The aim of this study was to evaluate the cost-effectiveness of adding BD to the panel of conditions currently screened under the national NBS program in Spain. METHODS:We used information from the regional NBS program for BD that has been in place in the Spanish region of Galicia since 1987. These data, along with other sources, were used to develop a cost-effectiveness decision model that compared lifetime costs and health outcomes of a national birth cohort of newborns with and without an early detection program. The analysis took the perspective of the Spanish National Health Service. Effectiveness was measured in terms of quality-adjusted life years (QALYs). We undertook extensive sensitivity analyses around the main model assumptions, including a probabilistic sensitivity analysis. RESULTS:In the base case analysis, NBS for BD led to higher QALYs and higher health care costs, with an estimated incremental cost per QALY gained of $24 677. Lower costs per QALY gained were found when conservative assumptions were relaxed, yielding cost savings in some scenarios. The probability that BD screening was cost-effective was estimated to be .70% in the base case at a standard threshold value.CONCLUSIONS: This study indicates that NBS for BD is likely to be a cost-effective use of resources. WHAT'S KNOWN ON THIS SUBJECT:Biotinidase deficiency (BD) might cause severe and permanent consequences. Cases detected through newborn screening and under treatment are shown to remain asymptomatic. However, some countries, including Spain, do not provide universal BD screening within their national newborn screening programs. WHAT THIS STUDY ADDS:It provides a first estimate of the lifetime costs and health outcomes of a Spanish birth cohort with and without neonatal screening for BD. It shows that newborn screening for BD is likely to be a costeffective use of resources. Dr Vallejo-Torres participated in the concept and design of the study and in the collection, analysis, and interpretation of data and drafted and revised the manuscript; Dr Castilla participated in the design of the study and in the collection and interpretation of data and revised the manuscript; Drs Couce, Pérez-Cerdá, Martín-Hernández, Pineda, and Campistol participated in the concept and design of the study and in the collection and interpretation of data and revised the manuscript; Ms Arrospide and Dr Morris participated in the concept and design of the study and in the analysis and interpretation of data and revised the manuscript; Dr Serrano-Aguilar coordinated the research team and critically reviewed the manuscript; and all authors approved the final manuscript as submitted. In Spain, only 2 regions (Galicia, since 1987, and Murcia, since 2007) include BD in their regional newborn screening (NBS) programs. Currently, the Spanish Ministry of Health, Social Servi...

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations

“…17 Only 7% of these (~1:50 000) neonates had a profound deficiency, compared with 1:137 401 reported by Wolf. The large difference between the worldwide survey and the incidence found in our study and others 16,[20][21][22][23][24][25][26][27][28] is likely due to considerable variation in the occurrence of this disorder across countries. Therefore, it is important for each country to study the incidence of biotinidase deficiency.…”

“…17 More recent publications, however, indicate that the incidence of biotinidase deficiency ranges from 1:4500 to 1:62 500 in countries that screen for this disorder (eg, Brazil, the USA, Belgium, Germany and Greece). 16,[20][21][22][23][24][25][26][27][28] Our study shows that, in the Netherlands, 1 in 6100 to 1 in 8200 neonates had partial or profound biotinidase deficiency. 17 Only 7% of these (~1:50 000) neonates had a profound deficiency, compared with 1:137 401 reported by Wolf.…”

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

“…51 Several studies have shown the cost-effectiveness of screening for both profound and partial biotinidase deficiency. [52][53][54] Currently, all newborn screening programs in the United States and more than 30 other countries screen for biotinidase deficiency, with multiple recent studies suggesting that additional countries are considering incorporation of biotinidase deficiency into their newborn screening programs. [55][56][57][58][59][60] Historically, the screening method used was a colorimetric assay of biotinidase activity measured in dried blood spots, and states have individually established their own screening cutoffs and rescreening or follow-up protocols.…”

The Further Adventures of Newborn Screening for Biotinidase Deficiency: Where It Is at and What We Still Need to Know

“…There have been several studies that have addressed this issue, and they have all agreed that newborn screening for biotinidase deficiency is cost-effective [62][63][64].…”