Sylvia Martin, Emanuele Angolini, Jennifer Audi, Dr Enrico Bertini, Lucia Pia Bruno, Joshua Coulter, Alessandra Ferlini, Fernanda Fortunato, Vera Frankova, Nicolas Garnier, Åsa Grauman, Edith Gross, Brett Hauber, Mats Hansson, Janbernd Kirschner, Ferdinand Knieling, Gergana Kyosovksa, Silvia Ottombrino, Antonio Novelli, Roman Raming, Stefaan Sansen, Christina Saier, Jorien Veldwijk
INTRODUCTION: Rare diseases (RDs) collectively impact over 30 million people in Europe. Most individual conditions have a low prevalence which has resulted in a lack of research and expertise in this field, especially regarding genetic newborn screening (gNBS). There is increasing recognition of the importance of incorporating patients' needs and general public perspectives into the shared decision-making process regarding gNBS. This study is part of the Innovative Medicine Initiative project Screen4Care which aims at shortening the diagnostic journey for RDs by accelerating diagnosis for patients living with RDs through gNBS and the use of digital technologies, such as artificial intelligence and machine learning...
April 19, 2024: BMJ Open