Peer-Reviewed Publication
PLoS One2023;18(11):e0293503.January 1, 2023Journal Article
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.
Nicolas Garnier1, Joanne Berghout1, Aldona Zygmunt1, Deependra Singh1, Kui A Huang1, Waltraud Kantz1, Carl Rudolf Blankart2, Sandra Gillner2, Jiawei Zhao3, Richard Roettger3, Christina Saier4, Jan Kirschner4, Joern Schenk5, Leon Atkins5, Nuala Ryan5, Kaja Zarakowska5, Jana Zschüntzsch6, Michela Zuccolo7, Matthias Müllenborn8, Yuen-Sum Man8, Liz Goodman9, Marie Trad10, Anne Sophie Chalandon11, Stefaan Sansen11, Maria Martinez-Fresno12, Shirlene Badger12, Rudolf Walther van Olden13, Robert Rothmann14, Patrick Lehner14, Christof Tschohl14, Ludovic Baillon15, Gulcin Gumus16, Edith Gross16, Rumen Stefanov17,18, Georgi Iskrov17,18, Ralitsa Raycheva17,18, Kostadin Kostadinov17,18, Elena Mitova18, Moshe Einhorn19, Yaron Einhorn19, Josef Schepers20, Miriam Hübner20, Frauke Alves21,22,23, Rowan Iskandar24, Rudolf Mayer25, Alessandra Renieri26, Aneta Piperkova27, Ivo Gut28, Sergi Beltran28, Mads Emil Matthiesen29, Marion Poetz30, Mats Hansson31, Regina Trollmann32, Emanuele Agolini33, Silvia Ottombrino33, Antonio Novelli33, Enrico Bertini33, Rita Selvatici34, Marianna Farnè34, Fernanda Fortunato34, Alessandra Ferlini34
1Pfizer Inc., Collegeville, Pennsylvania, United States of America.
2KPM Center for Public Management and Swiss Institute for Translational and Entrepreneurial Medicine, University of Bern, Bern, Switzerland.
3Department of Mathematics and Computer Science, University of Southern Denmark, Odense, Denmark.
4Department of Neuropediatric and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
5Takeda Pharmaceuticals International AG, Opfikon, Switzerland.
6Department of Neurology, University Medical Center Goettingen, Göttingen, Germany.
7F. Hoffmann La-Roche, Basel, Switzerland.
8Novo Nordisk Health Care AG, Switzerland &Novo Nordisk A/S, Kloten, Denmark.
9University College Dublin, National University of Ireland, Dublin, Ireland.
10Lysogene, Neuilly-sur-Seine, France.
11Sanofi, Diegem, Belgium.
12Illumina, Cambridge, United Kingdom.
13Novartis Gene Therapies Switzerland GmbH, Risch-Rotkreuz, Switzerland.
14Research Institute AG & Co KG, Digital Human Rights Center, Wien, Austria.
15PTC Therapeutics Switzerland GmbH, Steinhausen, Switzerland.
16EURORDIS, Paris, France.
17Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.
18Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.
19Genoox, Tel Aviv, Israel.
20Berlin Institute of Health (at) Charité - Universitätsmedizin Berlin, Berlin, Germany.
21Translational Molecular Imaging, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.
22Clinic of Hematology and Medical Oncology, University Medical Center, Göttingen, Germany.
23Institute for Diagnostic and Interventional Radiology, University Medical Center, Göttingen, Germany.
24Swiss Institute for Translational and Entrepreneurial Medicine (sitem-insel), Bern, Switzerland.
25SBA Research gGmbH, Wien, Austria.
26Medical Genetics, University of Siena, Siena, Italy.
27Bulgarian Association for Personalized Medicine, Sofia, Bulgaria.
28Centro Nacional de Analisis Genomico, CNAG, Barcelona, Spain.
29FindZebra APS, Copenhagen, Denmark.
30Department of Strategy and Innovation, Copenhagen Business School, Copenhagen, Denmark.
31Uppsala University, Uppsala, Sweden.
32University of Erlangen, Erlangen, Germany.
33Bambino Gesu' Children Hospital, IRCCS, Rome, Italy.
34Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
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 Association…
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