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Shortening the path to rare disease diagnosis by using newborn genetic screening and digital technologies

Description du projet

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Diagnostic et traitement accélérés des maladies rares

Il existe plus de 7 000 maladies rares connues, des affections qui ne touchent pas plus de une personne sur 2 000. Collectivement, ces maladies qui affectent jusqu’à 36 millions de personnes dans toute l’UE et une personne sur 17 au cours de leur vie sont souvent graves. Il s’agit de maladies chroniques multisystémiques qui exposent les patients à un risque permanent de dommage et dégénérescence des organes. Les patients doivent généralement faire face à un parcours ardu vers un diagnostic exact. Dans ce contexte, le projet SCREEN4CARE, financé par l’UE, entend réduire le temps écoulé jusqu’au diagnostic et jusqu’au traitement pour les patients atteints de maladies rares. En réunissant 35 partenaires au sein d’un consortium international public-privé, le projet adoptera une stratégie à plusieurs volets incluant le dépistage génétique néonatal et des algorithmes fondés sur l’intelligence artificielle pour identifier les patients au début de l’apparition de la maladie.

Objectif

In the EU alone, according to the Orphanet DB (https://pubmed.ncbi.nlm.nih.gov/31527858/) 30 million persons, 3,5-6% of the general population, are affected by one of the 6,172 different rare diseases (RDs) of which 72% are genetic and 70% affect children. The path to diagnosis for people suffering from a RD is burdensome, often severely delayed by a diagnostic odyssey. Lack of timely diagnosis affects disease management, family planning, identification of potential beneficial treatments and / or clinical trials. This unacceptable situation does not meet the concept of equity for EU citizens, and requires rapid, structured, and cost-effective corrective actions. The Screen4Care (S4C) consortium will leverage the genomic and digital advent to develop and pilot genetic NBS and AI-guided symptom recognition algorithms, while accounting for all relevant legal, regulatory and ethical considerations. S4C aims to harmonize the results of existing efforts in a horizon scan, by looking at the totality of the available data resources, diagnostic algorithms, and other initiatives with similar ultimate goals.
The genetic NBS will interrogate 1) currently treatable RDs (TREAT-map gene panel), 2) actionable RDs (ACT-map gene panel) in 18.000 new-borns in 3 EU countries (D, It, and Cz). Further, S4C will offer whole genome sequencing (WGS) to early symptomatic babies, tested negatively during panel-based NBS to identify known NBS-escaped RDs and novel genes/phenotypes.
S4C will also provide two digital diagnosis support systems for RD on the basis of features and symptom complexes: 1) federated ML- and literature-evidence-based algorithm for continuous and automated screening of EHR and 2) meta symptom checker with virtual clinics for patients and HCP offering the possibility of increased accuracy of diagnosis and ongoing supports. Our ambitious goal is to evaluate the validity of our multi-pronged approach to shorten the time to diagnosis for all patients affect by RDs, improve value-based healthcare resource utilization, and hopefully reduce the suffering of millions of European citizens.

Champ scientifique

Mots‑clés

Programme(s)

Thème(s)

Appel à propositions

H2020-JTI-IMI2-2020-23-two-stage

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Régime de financement

RIA - Research and Innovation action

Coordinateur

UNIVERSITA DEGLI STUDI DI FERRARA
Contribution nette de l'UE
€ 695 320,00
Adresse
VIA ARIOSTO 35
44121 Ferrara
Italie

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Région
Nord-Est Emilia-Romagna Ferrara
Type d’activité
Higher or Secondary Education Establishments
Liens
Coût total
€ 1 225 320,00

Participants (36)

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Dernière mise à jour: 30 Avril 2024

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Permalink: https://cordis.europa.eu/project/id/101034427/fr

European Union, 2024