Page 16 - Read Online
P. 16
Page 10 of 11 Valcárcel-Nazco et al. Rare Dis Orphan Drugs J 2023;2:19 https://dx.doi.org/10.20517/rdodj.2023.14
BMC Med Genomics 2017;10:9. DOI PubMed PMC
17. Howard HC, Knoppers BM, Cornel MC, Wright Clayton E, Sénécal K, Borry P; European Society of Human Genetics; P3G
International Paediatric Platform; Human Genome Organisation; and the PHG Foundation. Whole-genome sequencing in newborn
screening? A statement on the continued importance of targeted approaches in newborn screening programmes. Eur J Hum Genet
2015;23:1593-600. DOI PubMed PMC
18. Johnston J, Lantos JD, Goldenberg A, Chen F, Parens E, Koenig BA; members of the NSIGHT Ethics and Policy Advisory Board.
Sequencing newborns: a call for nuanced use of genomic technologies. Hastings Cent Rep 2018;48 Suppl 2:S2-6. DOI PubMed PMC
19. Knoppers BM, Sénécal K, Borry P, Avard D. Whole-genome sequencing in newborn screening programs. Sci Transl Med
2014;6:229cm2. DOI PubMed
20. Potter BK, Avard D, Entwistle V, et al. Ethical, legal, and social issues in health technology assessment for prenatal/preconceptional
and newborn screening: a workshop report. Public Health Genomics 2009;12:4-10. DOI PubMed PMC
21. Castilla I, Arvelo-Martín A, Valcárcel-Nazco C, et al. Cost-effectiveness of the expanded newborn screening of congenital errors of
metabolism using tandem mass spectrometry. Available from: https://sescs.es/coste-efectividad-cribado-de-errores-congenitos-del-
metabolismo-mediante-espectrometria-de-masas/ [Last accessed on 13 Sep 2023]
22. Ramos-Goñi JM, Serrano-Aguilar PG, Espada Sáenz-Torres M, Posada de la Paz M. Coste-efectividad del cribado neonatal de los
errores congénitos del metabolismo mediante espectrometría de masas en tándem. Madrid; 2008. Report No.: Servicio de Evaluación
del Servicio Canario de la Salud. SESCS; 2006. Available from: https://sescs.es/coste-efectividad-del-cribado-neonatal-por-
espectrometria-de-masas-en-tandem/ [Last accessed on 13 Sep 2023]
23. Castiñeras DE, Couce ML, Marin JL, González-Lamuño D, Rocha H. Newborn screening for metabolic disorders in Spain and
worldwide. An Pediatr 2019;91:128.e1-14. DOI PubMed
24. Chan K, Petros M. Simple test, complex system: multifaceted views of newborn screening science, technology, and policy. Glob
Pediatr Health 2019;6:2333794X19894812. DOI PubMed PMC
25. Hoffmann GF, Lindner M, Loeber JG. 50 years of newborn screening. J Inherit Metab Dis 2014;37:163-4. DOI PubMed
26. Serrano-aguilar P, Castilla-rodríguez I, Vallejo-torres L, Valcárcel-nazco C, García-pérez L. Neonatal screening in Spain and cost-
effectiveness. Expert Opinion on Orphan Drugs 2015;3:971-4. DOI
27. Cacciatore P, Visser LA, Buyukkaramikli N, van der Ploeg CPB, van den Akker-van Marle ME. The methodological quality and
challenges in conducting economic evaluations of newborn screening: a scoping review. Int J Neonatal Screen 2020;6:94. DOI
PubMed PMC
28. Garavito GA, Moniz T, Déom N, Redin F, Pichini A, Vindrola-Padros C. The implementation of large-scale genomic screening or
diagnostic programmes: A rapid evidence review. Eur J Hum Genet 2023;31:282-95. DOI PubMed PMC
29. Pollitt RJ, Green A, Mccabe CJ, et al. Neonatal screening for inborn errors of metabolism: cost, yield and outcome: a review. Health
Technol Asses 1997:1. DOI
30. Baily MA, Murray TH. Ethics, evidence, and cost in newborn screening. Hastings Cent Rep 2008;38:23-31. DOI
31. Chan K, Davis J, Pai SY, Bonilla FA, Puck JM, Apkon M. A markov model to analyze cost-effectiveness of screening for severe
combined immunodeficiency (SCID). Mol Genet Metab 2011;104:383-9. DOI PubMed PMC
32. Gaspar HB, Hammarström L, Mahlaoui N, Borte M, Borte S. The case for mandatory newborn screening for severe combined
immunodeficiency (SCID). J Clin Immunol 2014;34:393-7. DOI PubMed
33. Johnson K, Lloyd-Puryear MA, Mann MY, Ramos LR, Therrell BL. Financing state newborn screening programs: sources and uses of
funds. Pediatrics 2006;117:S270-9. DOI PubMed
34. Howell RR. Ethical issues surrounding newborn screening. Int J Neonatal Screen 2021;7:3. DOI PubMed PMC
35. Simon D, Broadbridge E, Baker M, et al. Common challenges and identified solutions for state newborn screening programs during
COVID-19 pandemic. Int J Neonatal Screen 2022;8:7. DOI PubMed PMC
36. Ley 14/1986, de 25 de abril, General de Sanidad. Available from: https://www.boe.es/eli/es/l/1986/04/25/14/con [Last accessed on 9
Sep 2023].
37. Royal Decree 1030/2006, of September 15, which establishes the portfolio of common services of the National Health System and the
procedure for updating it. Available from: https://www.boe.es/eli/es/rd/2006/09/15/1030/con [Last accessed on 13 Sep 2023].
38. Couce ML, Castiñeiras DE, Bóveda MD, et al. Evaluation and long-term follow-up of infants with inborn errors of metabolism
identified in an expanded screening programme. Mol Genet Metab 2011;104:470-5. DOI
39. The Spanish Network of Agencies for Health Technology Assessment and Services of the National Health System (RedETS); 2023.
Available from: https://redets.sanidad.gob.es/ [Last accessed on 9 Sep 2023].
40. Royal Decree-Law 16/2012, of April 20, on urgent measures to guarantee the sustainability of the National Health System and improve
the quality and safety of its benefits; 2012. Available from: https://www.boe.es/eli/es/rdl/2012/04/20/16/con [Last accessed on 9 Sep
2023].
41. Sobrido Prieto M, González Guitián C, Cerdá Mota T, group of technicians and experts in documentation, and diffusion/dissemination
belonging to the Spanish Health Technology Assessment Agencies & Units. Strategies for the diffusion and dissemination of health
technology assessment (HTA) products. Madrid: Ministry of Science & Innovation; 2010. Available from: https://redets.sanidad.gob.
es/productos/buscarProductos.do?metodo=descargarFichero&idProducto=135 [Last accessed on 9 Sep 2023].
42. Langer A, Holle R, John J. Specific guidelines for assessing and improving the methodological quality of economic evaluations of
newborn screening. BMC Health Serv Res 2012;12:300. DOI PubMed PMC