Shortening the path to rare disease diagnosis by using newborn genetic screening and digital technologies
In the EU alone, roughly 30 million people are affected by one of the more than 6,000 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. 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. S4C will also provide two digital diagnosis support systems for RD on the basis of features and symptom complexes.
- Professor Alessandra FerliniUniversity of FerraraPhone: +39 532974439Email