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Pintos-Morell et al. Rare Dis Orphan Drugs J 2024;3:12 Rare Disease and
DOI: 10.20517/rdodj.2023.52
Orphan Drugs Journal

Opinion Open Access

Analysis of genomics implementation in newborn
screening for inherited metabolic disorders: an

IRDiRC initiative

3
Guillem Pintos-Morell 1 , Maria Iascone 2 , Giorgio Casari , Raquel Yahyaoui 4 , Elena-Alexandra
5
Tãtaru , Clara D. M. van Karnebeek 6 , Francjan J. van Spronsen 7
1
Drug Delivery and Therapy, Vall d’Hebron Institute of Research (VHIR), Vall d’Hebron Barcelona Hospital Campus, Medical
Committee of MPS-Spain Patient Advocacy Organisation, Barcelona 08035, Spain.
2
Medical Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo24127, Italy.
3
San Raffaele Hospital and Vita-Salute San Raffaele University, Milan 20132, Italy.
4
Instituto de Investigación Biomédica de Málaga (IBIMA Plataforma BIONAND), Hospital Regional Universitario de Málaga,
Málaga 29011, Spain.
5
IRDiRC Scientific Secretariat, Institut National de la santé et de la Recherche Médicale (Inserm), Paris 75013, France.
6
Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam University Medical
Center, Amsterdam 1105 AZ, The Netherlands.
7
Division of Metabolic Diseases, Beatrix Children’s Hospital, University Medical Center of Groningen, University of Groningen,
Groningen 9700 RB, The Netherlands.
Correspondence to: Dr. Guillem Pintos-Morell, Drug Delivery and Therapy, Vall d’Hebron Institute of Research (VHIR), Vall
d’Hebron Barcelona Hospital Campus, Passeig Vall d’Hebron 119-129, Barcelona 08035, Spain. E-mail: guillem.pintos@vhir.org
How to cite this article: Pintos-Morell G, Iascone M, Casari G, Yahyaoui R, Tãtaru EA, van Karnebeek CDM, van Spronsen FJ.
Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative. Rare Dis
Orphan Drugs J 2024;3:12. https://dx.doi.org/10.20517/rdodj.2023.52
Received: 16 Nov 2023 First Decision: 24 Jan 2024 Revised: 13 Mar 2024 Accepted: 9 Apr 2024 Published: 24 Apr 2024

Academic Editors: Virginie Bros-Facer, Daniel Scherman Copy Editor: Fangyuan Liu Production Editor: Fangyuan Liu

Abstract
Since its inception in 1963, newborn screening (NBS) has played a pivotal role in early detection and the
establishment of appropriate care for infants and children afflicted with inherited metabolic disorders (IMDs).
Despite significant advancements in biomarker identification and metabolomics, current NBS protocols only cover
a fraction of known IMDs. The integration of genomics holds promise for expanding the scope of standard NBS,
albeit presenting additional challenges. Drawing from the experiences of the authors across three European
countries, this article reviews the current landscape of conventional NBS for IMDs and explores the potential
integration of genomic tools as a primary screening tier. Recommendations are provided for the seamless transition
to genomic NBS, considering factors such as regional birth prevalence differentials, treatability of conditions, and
technological capabilities.

© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
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