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Bros-Facer et al. Rare Dis Orphan Drugs J 2023;2:21 Rare Disease and
DOI: 10.20517/rdodj.2023.26
Orphan Drugs Journal

Original Article Open Access

Next-generation sequencing-based newborn
screening initiatives in Europe: an overview

3
1,2
Virginie Bros-Facer , Stacie Taylor , Christine Patch 4
1
International Rare Diseases Research Consortium (IRDiRC), Hôpital Charles-Foix, Ivry-sur-Seine 94200, France.
2
Medical Affairs Europe, Illumina, Évry-Courcouronnes 91000, France.
3
Medical Affairs Global Scientific Communications, Illumina, San Diego, CA 92122, USA.
4
Engagement and Society, Wellcome Connecting Science, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, United
Kingdom.
Correspondence to: Dr. Virginie Bros-Facer, Medical Affairs Europe, Illumina, 3 Rue Henri Auguste Desbruères,
Évry-Courcouronnes 91000, France. E-mail: vbros@illumina.com
How to cite this article: Bros-Facer V, Taylor S, Patch C. Next-generation sequencing-based newborn screening initiatives in
Europe: an overview. Rare Dis Orphan Drugs J 2023;2:21. https://dx.doi.org/10.20517/rdodj.2023.26

Received: 8 Aug 2023 First Decision: 8 Sep 2023 Revised: 20 Sep 2023 Accepted: 26 Sep 2023 Published: 7 Oct 2023

Academic Editor: Daniel Scherman Copy Editor: Dan Zhang Production Editor: Dan Zhang

Abstract
Aim: This article describes results from a survey targeting healthcare professionals (HCPs) leading newborn
screening (NBS) initiatives in Europe. The survey was developed within the framework of a dedicated working
group set up by the International Rare Diseases Research Consortium (IRDiRC) to gather collective efforts relating
to NBS. The objectives of the survey were to gain a better understanding of approaches being tested for the
expansion of NBS and to raise awareness of the significant momentum across Europe to evaluate novel
technologies for use in future NBS programs.

Methods: A web-based survey including 57 questions was developed to gather information about genomic
newborn screening initiatives in Europe that are using next-generation sequencing (NGS) as a first-tier test.
Responses were analyzed qualitatively, and aggregated results are presented herein. The identity of some
initiatives is not presented to preserve confidentiality.

Results: The findings of the survey indicated that most initiatives are in the planning stage and have not yet started.
Although all 14 studies are heterogeneous in design, there is broad consensus that NGS approaches to NBS will, in
the short term, be implemented in parallel with current screening programs. The results of this survey can be used
to inform the design of studies still in the early planning stages.

© The Author(s) 2023. 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
indicate if changes were made.

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