Cribado neonatal en España: equidad, valor clínico y retos ante la expansión tecnológica: e202611093

María de los Ángeles Erazo Pesántez; Domingo González-Lamuño

doi:10.67113/resp.v100i1.1744

Authors

María de los Ángeles Erazo Pesántez Área de Historia de la Ciencia. Departamento de Fisiología y Farmacología. Facultad de Medicina. Universidad de Cantabria. Santander. España. / Grupo de Investigación en Epidemiología y Salud Pública. Instituto de Investigación Marqués de Valdecilla (IDIVAL). Santander. España. https://orcid.org/0000-0002-4498-8343
Domingo González-Lamuño Departamento de Ciencias Médicas y Quirúrgicas. Facultad de Medicina. Universidad de Cantabria. Santander. España. / Servicio de Pediatría. Hospital Universitario Marqués de Valdecilla. Instituto de Investigación Marqués de Valdecilla (IDIVAL). Santander. España. https://orcid.org/0000-0002-7578-241X

DOI:

https://doi.org/10.67113/resp.v100i1.1744

Keywords:

Newborn screening, Health equity, Health policy, Rare diseases, Clinical actionability, Genomic screening, Public Health, Screening programmes, Health governance, Citizen participation

Abstract

Newborn screening constitutes one of the most consequential Public Health interventions for the early detection of severe and treatable conditions. In Spain, its development has followed a pattern of progressive expansion, driven by technological advances and by the decentralisation of the healthcare system. This process has resulted in significant territorial disparities in both the number and type of conditions included in regional screening programmes. Current debate focuses on the criteria that should guide the expansion of newborn screening panels and the incorporation of high-capacity diagnostic technologies. The principal challenge lies not merely in increasing the number of screened conditions, but in ensuring net clinical benefit, proportionality of interventions, and the healthcare system’s capacity to confirm diagnoses, provide treatment, and guarantee specialised follow-up. The transition towards more complex screening models, such as genomic newborn screening, introduces risks of diagnostic uncertainty, overdiagnosis, and psychosocial impact. This shift necessitates stringent inclusion criteria grounded in clinical actionability, evidence of effectiveness, and operational feasibility. Drawing on a historical, narrative, and multidisciplinary review, this article analysed the evolution of newborn screening in Spain from a Public Health perspective and examined current challenges in terms of territorial equity, governance, and clinical value. It proposes advancing towards national harmonisation based on evidence, continuous outcome evaluation, and prudent expansion, prioritising quality and health benefit over the mere increase in the number of conditions included in newborn screening programmes.

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Author Biographies

María de los Ángeles Erazo Pesántez, Área de Historia de la Ciencia. Departamento de Fisiología y Farmacología. Facultad de Medicina. Universidad de Cantabria. Santander. España. / Grupo de Investigación en Epidemiología y Salud Pública. Instituto de Investigación Marqués de Valdecilla (IDIVAL). Santander. España.

Mª Angeles Erazo Pesántez currently works as an Assistant Professor in the Area of History of Science, affiliated with the Department of Physiology and Pharmacology at the Faculty of Medicine, University of Cantabria. She is a professional with extensive experience as a university lecturer and researcher in Medical Anthropology and Global Health; History and Communication of Science, Health and the Environment; Science and Technology Studies (STS); and e-learning and social media. Her academic activity has been carried out in Spain (University of Salamanca, University of Valencia, Universitat Oberta de Catalunya, University of Cantabria), in the Netherlands (University of Amsterdam, Radboud University Nijmegen Medical Centre), and in Mexico (National Autonomous University of Mexico – UNAM – and the National Polytechnic Institute – IPN), among other countries.

She has contributed to the development of research projects focused on global health and health communication (University of Cantabria, University of Salamanca, Fundación Anesvad and Fundación Mundo Sano, Spain), as well as on science education and science communication (NEMO Science Museum, Amsterdam, the Netherlands; IHCantabria, Spain; the National Polytechnic Institute and the Universum Science Museum of UNAM, Mexico), among other research lines.

She is a member of the Spanish Association for Science Communication (AEC2), the National Association of Health Journalists (ANIS), and the Advisory Committee of the Ibero-American Journal of Science, Technology and Society (CTS). She also serves as a reviewer for several indexed scientific journals, including PLOS Neglected Tropical Diseases and the Journal of Racial and Ethnic Health Disparities. She has received awards and recognitions for her level of responsibility and for the quality of her work both as an academic researcher and as an expert in science communication.

She has also contributed to knowledge transfer, public engagement, and science journalism activities in universities, media outlets, and science news agencies in Spain (IHCantabria/University of Cantabria, the DiCYT Agency, and AEC2), Mexico (La Jornada, the Directorate General for Science Communication of UNAM, and the Communication Office of the National Polytechnic Institute), Ecuador (HOY, SENESCYT), and the United Kingdom (SciDev.Net).

Domingo González-Lamuño, Departamento de Ciencias Médicas y Quirúrgicas. Facultad de Medicina. Universidad de Cantabria. Santander. España. / Servicio de Pediatría. Hospital Universitario Marqués de Valdecilla. Instituto de Investigación Marqués de Valdecilla (IDIVAL). Santander. España.

Education and training: Degree in Medicine and Surgery. Specialist in Paediatrics with specific advanced training in Paediatric Nephrology and Inborn Errors of Metabolism. PhD in Medicine and Surgery with a doctoral thesis in the field of genetics entitled Development and Application of New Techniques for the Detection of Differentially Expressed Genes in Ewing’s Tumour (1995).
Research fellowships and stays: Post-residency research fellowship supported by a FISS Advanced Studies Grant (1995) at the Municipal Institute of Medical Research (IMIM), Barcelona. Additional specialised research stays at international reference centres for rare metabolic and inherited disorders: Department of Neurology, Johns Hopkins Hospital, Baltimore, USA (August 2005 – March 2006), and Hôpital Necker–Enfants Malades, Paris, Service of Inherited Metabolic Diseases (July–August 2012).
Research lines:

Inherited metabolic diseases.
Rare diseases of genetic origin.
Genetic bases of paediatric diseases.

Research networks and projects: Researcher within the Rare Diseases Epidemiological Research Network (REPIER) and the Network for Inherited Metabolic Diseases (REDEMTEH), both integrated into the Thematic Cooperative Research Networks Programme of the Instituto de Salud Carlos III (ISCIII) (2003–2006). Principal Investigator of two ISCIII-funded research projects on rare diseases and of the European project NUTRIENTHE. Advisory roles: Scientific adviser to the Spanish Ministry of Health and Consumer Affairs for the designation of CSUR reference centres in metabolic diseases and for newborn screening programmes. Scientific adviser to Orphanet since 2005. Scientific adviser to patient associations including PKU-OTM, Williams syndrome, and Lowe syndrome. President of the Scientific Committee of the Mencía Foundation for Research in Gene and Cell Therapy. Academic career: Professor of Paediatrics. Supervisor of 14 doctoral theses. Four recognised teaching periods (quinquenios) and four six-year research assessment periods (sexenios), the most recent awarded in December 2018. Author of more than 60 indexed publications in genetics and rare diseases, with approximately 1,200 citations, cumulative impact factor>200, and h-index=18. Co-editor of the Treatise on the Diagnosis and Treatment of Inherited Metabolic Diseases (ERGON, Madrid, 2015). Previous leadership role: Former Scientific Director of the Advanced Metabolic Centre of Cantabria (CDEMAC), a specialised centre for the diagnosis of inherited metabolic disorders (until June 2018). Professional leadership: President of the Spanish Association for the Study of Inborn Errors of Metabolism (AECOM) (2019–present). International professional membership: Member of the European Metabolic Group (2015–present) and of the Advisory Board of the International Society for Inborn Errors of Metabolism. Academic distinction: Full Member of the Royal Academy of Medicine of Cantabria (elected November 2019).

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