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...
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2023-01-01
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| Series: | PLoS ONE |
| Online Access: | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0293503&type=printable |
| _version_ | 1797394636004655104 |
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| author | Nicolas Garnier Joanne Berghout Aldona Zygmunt Deependra Singh Kui A Huang Waltraud Kantz Carl Rudolf Blankart Sandra Gillner Jiawei Zhao Richard Roettger Christina Saier Jan Kirschner Joern Schenk Leon Atkins Nuala Ryan Kaja Zarakowska Jana Zschüntzsch Michela Zuccolo Matthias Müllenborn Yuen-Sum Man Liz Goodman Marie Trad Anne Sophie Chalandon Stefaan Sansen Maria Martinez-Fresno Shirlene Badger Rudolf Walther van Olden Robert Rothmann Patrick Lehner Christof Tschohl Ludovic Baillon Gulcin Gumus Edith Gross Rumen Stefanov Georgi Iskrov Ralitsa Raycheva Kostadin Kostadinov Elena Mitova Moshe Einhorn Yaron Einhorn Josef Schepers Miriam Hübner Frauke Alves Rowan Iskandar Rudolf Mayer Alessandra Renieri Aneta Piperkova Ivo Gut Sergi Beltran Mads Emil Matthiesen Marion Poetz Mats Hansson Regina Trollmann Emanuele Agolini Silvia Ottombrino Antonio Novelli Enrico Bertini Rita Selvatici Marianna Farnè Fernanda Fortunato Alessandra Ferlini |
| author_facet | Nicolas Garnier Joanne Berghout Aldona Zygmunt Deependra Singh Kui A Huang Waltraud Kantz Carl Rudolf Blankart Sandra Gillner Jiawei Zhao Richard Roettger Christina Saier Jan Kirschner Joern Schenk Leon Atkins Nuala Ryan Kaja Zarakowska Jana Zschüntzsch Michela Zuccolo Matthias Müllenborn Yuen-Sum Man Liz Goodman Marie Trad Anne Sophie Chalandon Stefaan Sansen Maria Martinez-Fresno Shirlene Badger Rudolf Walther van Olden Robert Rothmann Patrick Lehner Christof Tschohl Ludovic Baillon Gulcin Gumus Edith Gross Rumen Stefanov Georgi Iskrov Ralitsa Raycheva Kostadin Kostadinov Elena Mitova Moshe Einhorn Yaron Einhorn Josef Schepers Miriam Hübner Frauke Alves Rowan Iskandar Rudolf Mayer Alessandra Renieri Aneta Piperkova Ivo Gut Sergi Beltran Mads Emil Matthiesen Marion Poetz Mats Hansson Regina Trollmann Emanuele Agolini Silvia Ottombrino Antonio Novelli Enrico Bertini Rita Selvatici Marianna Farnè Fernanda Fortunato Alessandra Ferlini |
| author_sort | Nicolas Garnier |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-09T00:22:38Z |
| format | Article |
| id | doaj.art-b1398ce8c27f41afbbe124544bb3d5b6 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-03-09T00:22:38Z |
| publishDate | 2023-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-b1398ce8c27f41afbbe124544bb3d5b62023-12-12T05:33:36ZengPublic Library of Science (PLoS)PLoS ONE1932-62032023-01-011811e029350310.1371/journal.pone.0293503Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.Nicolas GarnierJoanne BerghoutAldona ZygmuntDeependra SinghKui A HuangWaltraud KantzCarl Rudolf BlankartSandra GillnerJiawei ZhaoRichard RoettgerChristina SaierJan KirschnerJoern SchenkLeon AtkinsNuala RyanKaja ZarakowskaJana ZschüntzschMichela ZuccoloMatthias MüllenbornYuen-Sum ManLiz GoodmanMarie TradAnne Sophie ChalandonStefaan SansenMaria Martinez-FresnoShirlene BadgerRudolf Walther van OldenRobert RothmannPatrick LehnerChristof TschohlLudovic BaillonGulcin GumusEdith GrossRumen StefanovGeorgi IskrovRalitsa RaychevaKostadin KostadinovElena MitovaMoshe EinhornYaron EinhornJosef SchepersMiriam HübnerFrauke AlvesRowan IskandarRudolf MayerAlessandra RenieriAneta PiperkovaIvo GutSergi BeltranMads Emil MatthiesenMarion PoetzMats HanssonRegina TrollmannEmanuele AgoliniSilvia OttombrinoAntonio NovelliEnrico BertiniRita SelvaticiMarianna FarnèFernanda FortunatoAlessandra FerliniSince 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.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0293503&type=printable |
| spellingShingle | Nicolas Garnier Joanne Berghout Aldona Zygmunt Deependra Singh Kui A Huang Waltraud Kantz Carl Rudolf Blankart Sandra Gillner Jiawei Zhao Richard Roettger Christina Saier Jan Kirschner Joern Schenk Leon Atkins Nuala Ryan Kaja Zarakowska Jana Zschüntzsch Michela Zuccolo Matthias Müllenborn Yuen-Sum Man Liz Goodman Marie Trad Anne Sophie Chalandon Stefaan Sansen Maria Martinez-Fresno Shirlene Badger Rudolf Walther van Olden Robert Rothmann Patrick Lehner Christof Tschohl Ludovic Baillon Gulcin Gumus Edith Gross Rumen Stefanov Georgi Iskrov Ralitsa Raycheva Kostadin Kostadinov Elena Mitova Moshe Einhorn Yaron Einhorn Josef Schepers Miriam Hübner Frauke Alves Rowan Iskandar Rudolf Mayer Alessandra Renieri Aneta Piperkova Ivo Gut Sergi Beltran Mads Emil Matthiesen Marion Poetz Mats Hansson Regina Trollmann Emanuele Agolini Silvia Ottombrino Antonio Novelli Enrico Bertini Rita Selvatici Marianna Farnè Fernanda Fortunato Alessandra Ferlini 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 |
| 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 |
| url | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0293503&type=printable |
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