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Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe
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 th...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664952/ https://www.ncbi.nlm.nih.gov/pubmed/37992053 http://dx.doi.org/10.1371/journal.pone.0293503 |
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author | Garnier, Nicolas Berghout, Joanne Zygmunt, Aldona Singh, Deependra Huang, Kui A. Kantz, Waltraud Blankart, Carl Rudolf Gillner, Sandra Zhao, Jiawei Roettger, Richard Saier, Christina Kirschner, Jan Schenk, Joern Atkins, Leon Ryan, Nuala Zarakowska, Kaja Zschüntzsch, Jana Zuccolo, Michela Müllenborn, Matthias Man, Yuen-Sum Goodman, Liz Trad, Marie Chalandon, Anne Sophie Sansen, Stefaan Martinez-Fresno, Maria Badger, Shirlene Walther van Olden, Rudolf Rothmann, Robert Lehner, Patrick Tschohl, Christof Baillon, Ludovic Gumus, Gulcin Gross, Edith Stefanov, Rumen Iskrov, Georgi Raycheva, Ralitsa Kostadinov, Kostadin Mitova, Elena Einhorn, Moshe Einhorn, Yaron Schepers, Josef Hübner, Miriam Alves, Frauke Iskandar, Rowan Mayer, Rudolf Renieri, Alessandra Piperkova, Aneta Gut, Ivo Beltran, Sergi Matthiesen, Mads Emil Poetz, Marion Hansson, Mats Trollmann, Regina Agolini, Emanuele Ottombrino, Silvia Novelli, Antonio Bertini, Enrico Selvatici, Rita Farnè, Marianna Fortunato, Fernanda Ferlini, Alessandra |
author_facet | Garnier, Nicolas Berghout, Joanne Zygmunt, Aldona Singh, Deependra Huang, Kui A. Kantz, Waltraud Blankart, Carl Rudolf Gillner, Sandra Zhao, Jiawei Roettger, Richard Saier, Christina Kirschner, Jan Schenk, Joern Atkins, Leon Ryan, Nuala Zarakowska, Kaja Zschüntzsch, Jana Zuccolo, Michela Müllenborn, Matthias Man, Yuen-Sum Goodman, Liz Trad, Marie Chalandon, Anne Sophie Sansen, Stefaan Martinez-Fresno, Maria Badger, Shirlene Walther van Olden, Rudolf Rothmann, Robert Lehner, Patrick Tschohl, Christof Baillon, Ludovic Gumus, Gulcin Gross, Edith Stefanov, Rumen Iskrov, Georgi Raycheva, Ralitsa Kostadinov, Kostadin Mitova, Elena Einhorn, Moshe Einhorn, Yaron Schepers, Josef Hübner, Miriam Alves, Frauke Iskandar, Rowan Mayer, Rudolf Renieri, Alessandra Piperkova, Aneta Gut, Ivo Beltran, Sergi Matthiesen, Mads Emil Poetz, Marion Hansson, Mats Trollmann, Regina Agolini, Emanuele Ottombrino, Silvia Novelli, Antonio Bertini, Enrico Selvatici, Rita Farnè, Marianna Fortunato, Fernanda Ferlini, Alessandra |
author_sort | Garnier, Nicolas |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10664952 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-106649522023-11-22 Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe Garnier, Nicolas Berghout, Joanne Zygmunt, Aldona Singh, Deependra Huang, Kui A. Kantz, Waltraud Blankart, Carl Rudolf Gillner, Sandra Zhao, Jiawei Roettger, Richard Saier, Christina Kirschner, Jan Schenk, Joern Atkins, Leon Ryan, Nuala Zarakowska, Kaja Zschüntzsch, Jana Zuccolo, Michela Müllenborn, Matthias Man, Yuen-Sum Goodman, Liz Trad, Marie Chalandon, Anne Sophie Sansen, Stefaan Martinez-Fresno, Maria Badger, Shirlene Walther van Olden, Rudolf Rothmann, Robert Lehner, Patrick Tschohl, Christof Baillon, Ludovic Gumus, Gulcin Gross, Edith Stefanov, Rumen Iskrov, Georgi Raycheva, Ralitsa Kostadinov, Kostadin Mitova, Elena Einhorn, Moshe Einhorn, Yaron Schepers, Josef Hübner, Miriam Alves, Frauke Iskandar, Rowan Mayer, Rudolf Renieri, Alessandra Piperkova, Aneta Gut, Ivo Beltran, Sergi Matthiesen, Mads Emil Poetz, Marion Hansson, Mats Trollmann, Regina Agolini, Emanuele Ottombrino, Silvia Novelli, Antonio Bertini, Enrico Selvatici, Rita Farnè, Marianna Fortunato, Fernanda Ferlini, Alessandra PLoS One Study Protocol 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. Public Library of Science 2023-11-22 /pmc/articles/PMC10664952/ /pubmed/37992053 http://dx.doi.org/10.1371/journal.pone.0293503 Text en © 2023 Garnier et al https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Study Protocol Garnier, Nicolas Berghout, Joanne Zygmunt, Aldona Singh, Deependra Huang, Kui A. Kantz, Waltraud Blankart, Carl Rudolf Gillner, Sandra Zhao, Jiawei Roettger, Richard Saier, Christina Kirschner, Jan Schenk, Joern Atkins, Leon Ryan, Nuala Zarakowska, Kaja Zschüntzsch, Jana Zuccolo, Michela Müllenborn, Matthias Man, Yuen-Sum Goodman, Liz Trad, Marie Chalandon, Anne Sophie Sansen, Stefaan Martinez-Fresno, Maria Badger, Shirlene Walther van Olden, Rudolf Rothmann, Robert Lehner, Patrick Tschohl, Christof Baillon, Ludovic Gumus, Gulcin Gross, Edith Stefanov, Rumen Iskrov, Georgi Raycheva, Ralitsa Kostadinov, Kostadin Mitova, Elena Einhorn, Moshe Einhorn, Yaron Schepers, Josef Hübner, Miriam Alves, Frauke Iskandar, Rowan Mayer, Rudolf Renieri, Alessandra Piperkova, Aneta Gut, Ivo Beltran, Sergi Matthiesen, Mads Emil Poetz, Marion Hansson, Mats Trollmann, Regina Agolini, Emanuele Ottombrino, Silvia Novelli, Antonio Bertini, Enrico Selvatici, Rita Farnè, Marianna Fortunato, Fernanda Ferlini, Alessandra Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe |
title | Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe |
title_full | Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe |
title_fullStr | Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe |
title_full_unstemmed | Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe |
title_short | Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe |
title_sort | genetic newborn screening and digital technologies: a project protocol based on a dual approach to shorten the rare diseases diagnostic path in europe |
topic | Study Protocol |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664952/ https://www.ncbi.nlm.nih.gov/pubmed/37992053 http://dx.doi.org/10.1371/journal.pone.0293503 |
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