Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe

Garnier N, Berghout J, Zygmunt A, Singh D, Huang KA, Kantz W, Blankart CR, Gillner S, Zhao J, Roettger R, Saier C, Kirschner J, Schenk J, Atkins L, Ryan N, Zarakowska K, Zschüntzsch J, Zuccolo M, Müllenborn M, Man YS, Goodman L, Trad M, Chalandon AS, Sansen S, Martinez-Fresno M, Badger S, Walther van Olden R, Rothmann R, Lehner P, Tschohl C, Baillon L, Gumus G, Gross E, Stefanov R, Iskrov G, Raycheva R, Kostadinov K, Mitova E, Einhorn M, Einhorn Y, Schepers J, Hübner M, Alves F, Iskandar R, Mayer R, Renieri A, Piperkova A, Gut I, Beltran S, Matthiesen ME, Poetz M, Hansson M, Trollmann R, Agolini E, Ottombrino S, Novelli A, Bertini E, Selvatici R, Farnè M, Fortunato F, Ferlini A (2023)

Publication Type: Journal article

Publication year: 2023

Journal

Book Volume: 18

Pages Range: e0293503-

Journal Issue: 11

DOI: 10.1371/journal.pone.0293503

Abstract

Since 72% of rare diseases are genetic in origin and mostly paediatrics, genetic newborn screening represents a diagnostic "window of opportunity". Therefore, many gNBS initiatives started in different European countries. Screen4Care is a research project, which resulted of a joint effort between the European Union Commission and the European Federation of Pharmaceutical Industries and Associations. It focuses on genetic newborn screening and artificial intelligence-based tools which will be applied to a large European population of about 25.000 infants. The neonatal screening strategy will be based on targeted sequencing, while whole genome sequencing will be offered to all enrolled infants who may show early symptoms but have resulted negative at the targeted sequencing-based newborn screening. We will leverage artificial intelligence-based algorithms to identify patients using Electronic Health Records (EHR) and to build a repository "symptom checkers" for patients and healthcare providers. S4C will design an equitable, ethical, and sustainable framework for genetic newborn screening and new digital tools, corroborated by a large workout where legal, ethical, and social complexities will be addressed with the intent of making the framework highly and flexibly translatable into the diverse European health systems.

Involved external institutions

Università degli Studi di Ferrara Italy (IT) Cardiovascular Research Foundation United States (USA) (US) Universität Bern Switzerland (CH) University of Southern Denmark / Syddansk Universitet Denmark (DK) Universitätsklinikum Freiburg Germany (DE) Takeda Pharmaceuticals International GmbH Switzerland (CH) University of Cambridge United Kingdom (GB) Novartis AG Switzerland (CH) Research Institute AG & Co KG Austria (AT) Plovdiv Medical University / Медицински университет в Пловдив Bulgaria (BG) European Organisation for Rare Diseases (EURORDIS) France (FR) Berliner Institut für Gesundheitsforschung in der Charité / Berlin Institute of Health at Charité (BIH) Germany (DE) sitem-insel AG / Swiss Institute for Translational and Entrepreneurial Medicine Switzerland (CH) Università degli Studi di Siena (UNISI) / University of Siena Italy (IT) Bulgarian Association for Personalized Medicine (BAPEMED) Bulgaria (BG) FindZebra ApS Denmark (DK) Ospedale Pediatrico Bambino Gesu Italy (IT) Centro Nacional de Análisis Genómico (CNAG) Spain (ES) Copenhagen Business School (CBS) Denmark (DK) Uppsala University Sweden (SE) F. Hoffmann-La Roche Ltd Switzerland (CH) Sanofi Belgium (BE) University College Dublin (UCD) Ireland (IE) Universitätsklinikum Göttingen Germany (DE) Novo Nordisk A/S Denmark (DK) PTC Therapeutics (Switzerland) Switzerland (CH) Bulgarian Association for Promotion of Education and Science (BAPES) Bulgaria (BG) Max-Planck-Institut für Multidisziplinäre Naturwissenschaften / Max Planck Institute for Multidisciplinary Sciences Germany (DE) SBA Research Austria (AT)

How to cite

APA:

Garnier, N., Berghout, J., Zygmunt, A., Singh, D., Huang, K.A., Kantz, W.,... Ferlini, A. (2023). Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe. PLoS ONE, 18(11), e0293503-. https://doi.org/10.1371/journal.pone.0293503

MLA:

Garnier, Nicolas, et al. "Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe." PLoS ONE 18.11 (2023): e0293503-.

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