16.12.2024 Online
Pioneering Genetic Newborn Screening: The SCREEN4CARE Project
Zeit: Montag, 16. Dezember 2024, 17:00 – 18:00 Uhr
Ort: Online
Referent: Prof. Dr. Janbernd Kirschner, Ärztlicher Direktor, Zentrum für Kinder- und Jugendmedizin, Klinik für Neuropädiatrie und Muskelerkrankungen, Universität Freiburg
Zielgruppe: Ethiker*innen, Mitarbeitende aus Medizin/Gesundheitswesen, Fachwissenschaftler*innen anderer Disziplinen, interessierte Öffentlichkeit
Öffentlicher Vortrag in englischer Sprache, organisiert durch das vom BMBF geförderte Forschungsprojekt „Genomische Neugeborenen-Screening-Programme: Rechtliche Implikationen, Werte, Ethik und Gesellschaft“ (NEW_LIVES) am Universitätsklinikum Heidelberg: https://www.klinikum.uni-heidelberg.de/new-lives-genomic-newborn-screening-programs
Beitreten Zoom Meeting
Meeting-ID: 984 8999 3256
Kenncode: 391203
Abstract: Newborn screening is a highly succesful measure of secondary prevention for severe childhood conditions. Genomic newborn screening is a major expansion of newborn screening associated with several ethical issues. One important question is: Which genetic conditions should genetic newborn screening search for? Only those treatable, or also conditons „actionable“ in a broader sense. In this talk, the project Screen4Care is being introduced. This project is one of the first studies on genomic newborn screening in Europe and also screens newborns from Germany. Screen4Care is an Innovative Medicines Initiative project funded by the European Union, aiming to accelerate the diagnosis of rare diseases through two central pillars: genetic newborn screening and digital technologies. The genetic newborn screening seeks to supplement existing newborn screening programs by incorporating advanced genetic technologies. For inclusion in the screening, genetic diseases were selected based on six key criteria: treatability, clinical validity, age of onset, disease severity, penetrance, and genetic feasibility. This selection process involved an automated scoring system followed by expert review. The final set of 245 genes will be presented. Additionally, the concept of screening for a broader set of diseases considered ACTionable will be discussed. The TREATpanel will be tested in approximately 20,000 newborns, contributing to the growing body of evidence for the implementation of next-generation sequencing (NGS) in newborn screening programs.
Im Anschluss an den Vortrag haben die Zuhörer*innen Gelegenheit zur Diskussion mit dem Referenten sowie mit Mitgliedern der Projektgruppe NEW_LIVES zu den medizinischen, ethischen, rechtlichen und sozialen Aspekten der vorgestellten Ergebnisse.