title: Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency.
abstract: OBJECTIVE
  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.
authors.affiliation: Departamento de Economía de las Instituciones, Estadística Económica y Econometría, Universidad de la Laguna, La Laguna, Spain; Centro de Investigaciones Biomédicas de Canarias (CIBICAN), Islas Canarias, Spain; Red de Investigación en Servicios de Salud en Enfermedades Crónicas (REDISSEC), Spain; Department of Applied Health Research, University College London, London, England; lvallejo@ull.es.
authors.forename: Laura
authors.initials: L
authors.lastname: Vallejo-Torres
authors.affiliation: Centro de Investigaciones Biomédicas de Canarias (CIBICAN), Islas Canarias, Spain; Red de Investigación en Servicios de Salud en Enfermedades Crónicas (REDISSEC), Spain; Departamento de Ingeniería Informática y de Sistemas. Universidad de La Laguna. La Laguna, Spain;
authors.forename: Iván
authors.initials: I
authors.lastname: Castilla
authors.affiliation: Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas, Hospital Clínico Universitario de Santiago, Santiago de Compostela, A Coruña, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain; Instituto para el Desarrollo e Integración de la Sanidad (IDIS), Madrid, Spain;
authors.forename: María L
authors.initials: ML
authors.lastname: Couce
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain; Centro de Diagnóstico de Enfermedades Moleculares, Facultad de Ciencias, Universidad Autónoma de Madrid, Madrid, Spain;
authors.forename: Celia
authors.initials: C
authors.lastname: Pérez-Cerdá
authors.affiliation: Unidad Pediátrica de Enfermedades Raras. E. Mitocondriales-E. Metabólicas Hereditarias, Departamento de Pediatría, Hospital Universitario 12 de Octubre, Madrid, Spain;
authors.forename: Elena
authors.initials: E
authors.lastname: Martín-Hernández
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain; Fundación del Hospital Universitario Sant Joan de Déu, Barcelona, Spain;
authors.forename: Mercé
authors.initials: M
authors.lastname: Pineda
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain; Servicio Neurología, Hospital Universitario Sant Joan de Déu, Barcelona, Spain;
authors.forename: Jaume
authors.initials: J
authors.lastname: Campistol
authors.affiliation: Red de Investigación en Servicios de Salud en Enfermedades Crónicas (REDISSEC), Spain; Unidad de Investigación Sanitaria de AP-OSIs Gipuzkoa, Organización Sanitaria Integrada Alto Deba, Arrasate, Guipúzcoa, Spain; and.
authors.forename: Arantzazu
authors.initials: A
authors.lastname: Arrospide
authors.affiliation: Department of Applied Health Research, University College London, London, England;
authors.forename: Stephen
authors.initials: S
authors.lastname: Morris
authors.affiliation: Red de Investigación en Servicios de Salud en Enfermedades Crónicas (REDISSEC), Spain; Servicio de Evaluación del Servicio Canario de la Salud (SESCS), El Rosario, Spain.
authors.forename: Pedro
authors.initials: P
authors.lastname: Serrano-Aguilar
mesh_terms: D028921:Biotinidase Deficiency / Q000175:diagnosis* / Q000191:economics*; D003362:Cost-Benefit Analysis; D003663:Decision Trees; D006801:Humans; D007231:Infant, Newborn; D009313:National Health Programs; D015997:Neonatal Screening / Q000191:economics*; D013030:Spain