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Pintos-Morell et al. Rare Dis Orphan Drugs J 2024;3:12 https://dx.doi.org/10.20517/rdodj.2023.52 Page 13 of 15

Special consideration is necessary for IMDs with a high risk of presenting very early acute symptoms
(organic acidurias, urea cycle disorders), even after a few hours of life, so are the sick newborns during the
first 3-5 days of life, as they will need a careful clinical evaluation using rapid diagnostics including present
metabolic investigations as well as rapid metabolomics and genome sequencing, if possible in a combined
effort.

The introduction of gNBS warrants a judicious and phased approach, centralized in experienced reference
centers, and characterized by selective gene panels to ensure harmonization and protocolized utilization.
Collaborative efforts, including global data sharing, are essential for optimizing screening outcomes and
refining screening protocols over time.

DECLARATIONS
Acknowledgments
The authors gratefully acknowledge the important contributions and guidance of Virginie Bros-Facer and
David Pearce.

Authors’ contributions
Made substantial contributions to the conception and design of the study and performed writing and
interpretation: Pintos-Morell G, Iascone M, Casari G, Yahyaoui R, van Karnebeek CDM, van Spronsen FJ
Contributed equally: Pintos-Morell G, Iascone M, and van Spronsen FJ
Project administration, supervision, review, and editing: Tãtaru EA

Availability of data and materials
Not applicable

Financial support and sponsorship
This work has been partly supported by Fondazione Telethon (“Responsible Implementation of Newborns
Genome Sequencing: a technical and interpretative feasibility study” GSP21003) and by Fondazione
Regionale per la Ricerca Biomedica and Regione Lombardia, RINGS - Code nr. FT5132: Iascone M, Casari
G.

Conflicts of interest
Pintos-Morell G and van Karnebeek CDM are members of the Diagnostics Scientific Committee of
IRDiRC. Tataru EA works at IRDiRC Scientific Secretariat. While the other authors have declared that they
have no conflicts of interest.

Ethical approval and consent to participate
Not applicable.

Consent for publication
Not applicable.

Copyright
© The Author(s) 2024.