Page 7 - Read Online
P. 7

Magnifico et al. Rare Dis Orphan Drugs J 2023;2:16                  Rare Disease and
               DOI: 10.20517/rdodj.2023.17
                                                                            Orphan Drugs Journal




               Systematic Review                                                             Open Access



               A systematic review of real-world applications of
               genome sequencing for newborn screening


               Giuditta Magnifico, Irene Artuso, Stefano Benvenuti

               Fondazione Telethon ETS, Milan IT 20129, Italy.
               Correspondence to: Dr. Stefano Benvenuti, Fondazione Telethon ETS, via Carlo Poerio 14, Milan IT20129, Italy. E-mail:
               sbenvenuti@telethon.it

               How to cite this article: Magnifico G, Artuso I, Benvenuti S. A systematic review of real-world applications of genome
               sequencing for newborn screening. Rare Dis Orphan Drugs J 2023;2:16. https://dx.doi.org/10.20517/rdodj.2023.17

               Received: 21 Jun 2023  Revised: 9 Aug 2023  Accepted: 22 Aug 2023  Published: 29 Aug 2023

               Academic Editors: Daniel Scherman, Virginie Bros-Facer  Copy Editor: Yanbing Bai  Production Editor: Yanbing Bai

               Abstract
               Aim: With the costs of genomic sequencing falling quickly and an ever-increasing number of clinical laboratories
               equipped with new-generation sequencing machines, healthcare systems around the world are getting ready to
               enter the era of genomic newborn screening (NBS). However, the adoption of Genomic Sequencing (GS),
               encompassing whole-exome sequencing (WES) and whole-genome sequencing (WGS), in NBS programs raises a
               number of clinical, ethical, and legal questions as well as organizational and economic challenges. This systematic
               review is part of a feasibility study to assess the introduction of WGS for NBS in Lombardy region with the specific
               aim of gathering evidence from existing pilots in the field whose results have been published.

               Methods: Three different sources were identified for the selection of articles in order to obtain a various and
               unbiased set of publications. 33 articles were retained for analysis to answer the following questions:
               1. Clinical: Does genomic sequencing demonstrate clinical utility in the context of NBS? What are the limitations of
               these kind of programs?
               2. Societal: What are the social, ethical and psychological implications of using GS for NBS?
               3. Governance: What are the legal, economic, and organizational challenges for GS-based NBS programs?


                Results: There is a general consensus in the literature on the key principles that should guide the adoption of GS in
                NBS, such as the inclusion of actionable genes only, the need for informed consent from the parents, the right of the
                newborn to an open future, which means the exclusion of late-onset diseases even when those are considered
                treatable. However, there are still several differences in how these principles are detailed and applied.

                Conclusion: Real-world evidence from a handful of pilot projects (namely BabySeq and NC-Nexus, both carried out



                           © 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.

                                                                                          www.rdodjournal.com
   2   3   4   5   6   7   8   9   10   11   12