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European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework
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DOI：10.3389/fpubh.2026.1822461.png)
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Abstract
En 中文
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.
Keywords:
rare genetic diseases
genomic newborn screening
European reference networks (ERNs)
healthcare pathways
operational workflow
screen4care
treatable genetic disorders
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