European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework.
СтатьяМногоцентровое исследованиеНазвание и аннотация: Перевод в очереди
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Fortunato Fernanda, Selvatici Rita, Kirschner Jan, Sansen Stefaan, Agolini Emanuele, Ottombrino Silvia, Bertini Enrico, Novelli Antonio, Einhorn Moshe, Matalonga Leslie, Beltran Sergi, Gut Ivo G, Pereira Alberto M, Hiort Olaf, Schaefer Franz, Verloes Alain, Lohse Ansgar W, Wilde Arthur A M, Bodemer Christine, Jondeau Guillaume, Dollfus Hélène, Graessner Holm, Mathijssen Irene M J, L'khssim Ikram, Blay Jean-Yves, Sangiorgi Luca, Fenaux Pierre, Mañú Pereira María Del Mar, Gutiérrez Valle Victoria, Mosca Marta, Hoogerbrugge Nicoline, Wijnen Rene, Evangelista Teresinha, D'Angelo Carla, Wagner Thomas O F, Feitz Wout F J, Ladenstein Ruth, Dobai Zoltan, Wulffraat Nico, Ruperto Nicola, Jara Vega Paloma, Bellettato Cinzia Maria, Scarpa Maurizio, Onali Michela, Tchaicha Sébile, Arzimanoglou Alexis, Oh Jun, Lenz Dominic, Tumiene Birute, Zygmunt Aldona, Ferlini Alessandra
Аннотация
Rare diseases (RDs), affecting fewer than 5 people per 10,000, present unique challenges to usual care pathways due to their unique characteristics: rarity and large number of disease entities, heterogeneous clinical manifestations and genetic causes, multisystemic involvement, and high complexity of diagnosis and treatment. This complexity often hampers the setting of appropriate pathways of care, which are not easily identifiable by patients and stakeholders. This ultimately leads to significant delays in diagnosis, lack of timely access to RD treatments and profound inequalities across countries. To overcome these difficulties, European Reference Networks (ERNs) were established in 2017 to facilitate patients' referral to expertise and excellent services, aiming to reduce disparities and expedite diagnosis, standard of care, and treatment for people living with rare diseases (PLWRDs). Since 72% of rare diseases are of genetic in origin and mostly affect children, genomic newborn screening (gNBS) offers a powerful tool to overcome diagnostic barriers by providing early and accurate genetic diagnoses for a wide range of treatable pediatric RDs. Several gNBS initiatives have been implemented across Europe and worldwide. Screen4Care (S4C) is an EU-IHI funded research project integrating gNBS with artificial intelligence (AI)-based tools to improve care for PLWRDs in the EU. The project will offer gNBS to up to 18,000 infants using a capture-based panel (TREAT-panel) targeting 245 genes associated with treatable genetic disorders [ClinicalTrials.gov NCT06549218]. Within this framework, an operational pipeline and a comprehensive step-by-step process in collaboration with ERNs were developed to refer gNBS-positive newborns to the appropriate ERN, ensuring timely access to optimal standards of care and available treatments. We suggest that this organisational and structured health model might be adopted by EU Member States (MS), as it provides a defined clinical framework for identifying newborns with RDs at birth and ensuring they receive the correct care, thereby promoting patient-centred and equitable disease management.