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

Descrizione del progetto

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Accelerare la diagnosi e il trattamento delle malattie rare

Al mondo, sono oltre 7 000 le malattie rare note, condizioni che colpiscono non più di una persona su 2 000. Nel loro complesso queste patologie, che colpiscono fino a 36 milioni di persone nell’UE e che interesseranno 1 persona su 17 nell’arco della vita, si presentano spesso come malattie croniche gravi multisistemiche, a causa delle quali i pazienti rischiano danni o degenerazione permanenti degli organi. Tipicamente, chi ne soffre deve affrontare un arduo percorso per trovare una diagnosi corretta. In tale contesto, il progetto SCREEN4CARE, finanziato dall’UE, intende accorciare il tempo per giungere alla diagnosi e al trattamento di pazienti con malattie rare. Il progetto, che unisce 35 partner in un consorzio internazionale pubblico-privato, userà una strategia articolata, che comprende lo screening genetico neonatale e l’impiego di algoritmi basati su intelligenza artificiale per identificare i pazienti all’insorgere della malattia.

Obiettivo

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.

Campo scientifico

Parole chiave

Programma(i)

Argomento(i)

Invito a presentare proposte

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

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Meccanismo di finanziamento

RIA - Research and Innovation action

Coordinatore

UNIVERSITA DEGLI STUDI DI FERRARA
Contribution nette de l'UE
€ 691 786,00
Indirizzo
VIA ARIOSTO 35
44121 Ferrara
Italia

Mostra sulla mappa
Regione
Nord-Est Emilia-Romagna Ferrara
Tipo di attività
Higher or Secondary Education Establishments
Collegamenti
Costo totale
€ 1 404 286,25

Partecipanti (40)

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Ultimo aggiornamento: 16 Settembre 2024

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

European Union, 2024