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

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Garnier, NicolasPfizer Inc, Collegeville, PA 19426 USA. (author)

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

Article/chapterEnglish2023

Publisher, publication year, extent ...

Public Library of Science (PLoS),2023
electronicrdacarrier

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LIBRIS-ID:oai:DiVA.org:uu-521890
https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-521890URI
https://doi.org/10.1371/journal.pone.0293503DOI

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Language:English
Summary in:English

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SwePubSwePub

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

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.

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Berghout, JoannePfizer Inc, Collegeville, PA 19426 USA. (author)
Zygmunt, AldonaPfizer Inc, Collegeville, PA 19426 USA. (author)
Singh, DeependraPfizer Inc, Collegeville, PA 19426 USA. (author)
Huang, Kui A.Pfizer Inc, Collegeville, PA 19426 USA. (author)
Kantz, WaltraudPfizer Inc, Collegeville, PA 19426 USA. (author)
Blankart, Carl RudolfUniv Bern, KPM Ctr Publ Management, Bern, Switzerland.;Univ Bern, Swiss Inst Translat & Entrepreneurial Med, Bern, Switzerland. (author)
Gillner, SandraUniv Bern, KPM Ctr Publ Management, Bern, Switzerland.;Univ Bern, Swiss Inst Translat & Entrepreneurial Med, Bern, Switzerland. (author)
Zhao, JiaweiUniv Southern Denmark, Dept Math & Comp Sci, Odense, Denmark. (author)
Roettger, RichardUniv Southern Denmark, Dept Math & Comp Sci, Odense, Denmark. (author)
Saier, ChristinaUniv Freiburg, Fac Med, Med Ctr, Dept Neuropediat & Muscle Disorders, Freiburg, Germany. (author)
Kirschner, JanUniv Freiburg, Fac Med, Med Ctr, Dept Neuropediat & Muscle Disorders, Freiburg, Germany. (author)
Schenk, JoernTakeda Pharmaceut Int AG, Opfikon, Switzerland. (author)
Atkins, LeonTakeda Pharmaceut Int AG, Opfikon, Switzerland. (author)
Ryan, NualaTakeda Pharmaceut Int AG, Opfikon, Switzerland. (author)
Zarakowska, KajaTakeda Pharmaceut Int AG, Opfikon, Switzerland. (author)
Zschuentzsch, JanaUniv Med Ctr Goettingen, Dept Neurol, Gottingen, Germany. (author)
Zuccolo, MichelaF Hoffmann La Roche, Basel, Switzerland. (author)
Muellenborn, MatthiasNovo Nordisk Hlth Care AG, Basel, Switzerland.;Novo Nordisk AS, Kloten, Denmark. (author)
Man, Yuen-SumNovo Nordisk Hlth Care AG, Basel, Switzerland.;Novo Nordisk AS, Kloten, Denmark. (author)
Goodman, LizNatl Univ Ireland, Univ Coll Dublin, Dublin, Ireland. (author)
Trad, MarieLysogene, Neuilly Sur Seine, France. (author)
Chalandon, Anne SophieSanofi, Diegem, Belgium. (author)
Sansen, StefaanSanofi, Diegem, Belgium. (author)
Martinez-Fresno, MariaIllumina, Cambridge, England. (author)
Badger, ShirleneIllumina, Cambridge, England. (author)
Walther van Olden, RudolfNovartis Gene Therapies Switzerland GmbH, Risch Rotkreuz, Switzerland. (author)
Rothmann, RobertRes Inst AG & Co KG, Digital Human Rights Ctr, Vienna, Austria. (author)
Lehner, PatrickRes Inst AG & Co KG, Digital Human Rights Ctr, Vienna, Austria. (author)
Tschohl, ChristofRes Inst AG & Co KG, Digital Human Rights Ctr, Vienna, Austria. (author)
Baillon, LudovicPTC Therapeut Switzerland GmbH, Steinhausen, Switzerland. (author)
Gumus, GulcinEURORDIS, Paris, France. (author)
Gross, EdithEURORDIS, Paris, France. (author)
Stefanov, RumenMed Univ Plovdiv, Fac Publ Hlth, Dept Social Med & Publ Hlth, Plovdiv, Bulgaria.;Bulgarian Assoc Promot Educ & Sci, Inst Rare Dis, Plovdiv, Bulgaria. (author)
Iskrov, GeorgiMed Univ Plovdiv, Fac Publ Hlth, Dept Social Med & Publ Hlth, Plovdiv, Bulgaria.;Bulgarian Assoc Promot Educ & Sci, Inst Rare Dis, Plovdiv, Bulgaria. (author)
Raycheva, RalitsaMed Univ Plovdiv, Fac Publ Hlth, Dept Social Med & Publ Hlth, Plovdiv, Bulgaria.;Bulgarian Assoc Promot Educ & Sci, Inst Rare Dis, Plovdiv, Bulgaria. (author)
Kostadinov, KostadinMed Univ Plovdiv, Fac Publ Hlth, Dept Social Med & Publ Hlth, Plovdiv, Bulgaria.;Bulgarian Assoc Promot Educ & Sci, Inst Rare Dis, Plovdiv, Bulgaria. (author)
Mitova, ElenaBulgarian Assoc Promot Educ & Sci, Inst Rare Dis, Plovdiv, Bulgaria. (author)
Einhorn, MosheGenoox, Tel Aviv, Israel. (author)
Einhorn, YaronGenoox, Tel Aviv, Israel. (author)
Schepers, JosefCharite Univ Med Berlin, Berlin Inst Hlth, Berlin, Germany. (author)
Huebner, MiriamCharite Univ Med Berlin, Berlin Inst Hlth, Berlin, Germany. (author)
Alves, FraukeMax Planck Inst Multidisciplinary Sci, Translat Mol Imaging, Gottingen, Germany.;Univ Med Ctr, Clin Hematol & Med Oncol, Gottingen, Germany.;Univ Med Ctr, Inst Diagnost & Intervent Radiol, Gottingen, Germany. (author)
Iskandar, RowanSwiss Inst Translat & Entrepreneurial Med Sitem I, Bern, Switzerland. (author)
Mayer, RudolfSBA Res gGmbH, Vienna, Austria. (author)
Renieri, AlessandraUniv Siena, Med Genet, Siena, Italy. (author)
Piperkova, AnetaBulgarian Assoc Personalized Med, Sofia, Bulgaria. (author)
Gut, IvoCNAG, Barcelona, Spain. (author)
Beltran, SergiCNAG, Barcelona, Spain. (author)
Matthiesen, Mads EmilFindZebra APS, Copenhagen, Denmark. (author)
Poetz, MarionCopenhagen Business Sch, Dept Strategy & Innovat, Copenhagen, Denmark. (author)
Hansson, Mats G.,1952-Uppsala universitet,Centrum för forsknings- och bioetik(Swepub:uu)matshans (author)
Trollmann, ReginaUniv Erlangen Nurnberg, Erlangen, Germany. (author)
Agolini, EmanueleBambino Gesu Children Hosp, IRCCS, Rome, Italy. (author)
Ottombrino, SilviaBambino Gesu Children Hosp, IRCCS, Rome, Italy. (author)
Novelli, AntonioBambino Gesu Children Hosp, IRCCS, Rome, Italy. (author)
Bertini, EnricoBambino Gesu Children Hosp, IRCCS, Rome, Italy. (author)
Selvatici, RitaUniv Ferrara, Dept Med Sci, Med Genet, Ferrara, Italy. (author)
Farne, MariannaUniv Ferrara, Dept Med Sci, Med Genet, Ferrara, Italy. (author)
Fortunato, FernandaUniv Ferrara, Dept Med Sci, Med Genet, Ferrara, Italy. (author)
Ferlini, AlessandraUniv Ferrara, Dept Med Sci, Med Genet, Ferrara, Italy. (author)
Pfizer Inc, Collegeville, PA 19426 USA.Univ Bern, KPM Ctr Publ Management, Bern, Switzerland.;Univ Bern, Swiss Inst Translat & Entrepreneurial Med, Bern, Switzerland. (creator_code:org_t)

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By the author/editor: Garnier, Nicolas; Berghout, Joanne; Zygmunt, Aldona; Singh, Deependra; Huang, Kui A.; Kantz, Waltraud; show more...; Blankart, Carl R ...; Gillner, Sandra; Zhao, Jiawei; Roettger, Richar ...; Saier, Christina; Kirschner, Jan; Schenk, Joern; Atkins, Leon; Ryan, Nuala; Zarakowska, Kaja; Zschuentzsch, Ja ...; Zuccolo, Michela; Muellenborn, Mat ...; Man, Yuen-Sum; Goodman, Liz; Trad, Marie; Chalandon, Anne ...; Sansen, Stefaan; Martinez-Fresno, ...; Badger, Shirlene; Walther van Olde ...; Rothmann, Robert; Lehner, Patrick; Tschohl, Christo ...; Baillon, Ludovic; Gumus, Gulcin; Gross, Edith; Stefanov, Rumen; Iskrov, Georgi; Raycheva, Ralits ...; Kostadinov, Kost ...; Mitova, Elena; Einhorn, Moshe; Einhorn, Yaron; Schepers, Josef; Huebner, Miriam; Alves, Frauke; Iskandar, Rowan; Mayer, Rudolf; Renieri, Alessan ...; Piperkova, Aneta; Gut, Ivo; Beltran, Sergi; Matthiesen, Mads ...; Poetz, Marion; Hansson, Mats G. ...; Trollmann, Regin ...; Agolini, Emanuel ...; Ottombrino, Silv ...; Novelli, Antonio; Bertini, Enrico; Selvatici, Rita; Farne, Marianna; Fortunato, Ferna ...; Ferlini, Alessan ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Pediatrics

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

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