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The Project Genomics and Personalized Medicine for all though Artificial Intelligence in Haematological Diseases

Personalized or precision medicine is a medical model that combines already established clinical-pathological parameters with advanced genomic profiling in order to create innovative diagnostic, prognostic and therapeutic strategies. In this context, haematology has been rapidly transformed by genome characterization. However, despite the existence of national collaborative groups for many hematological diseases (HDs), some of them cooperating at the EU level, national approaches for HDs clinical management and research are often ineffective, especially for rarest conditions. Development of infrastructures that can support collection and use of genomic information in the health-care community represents a research priority for HDs, as repositories of genomic and clinical information in Europe are unconnected and due to the large number of disorders and in some cases relative number of samples small, it is difficult to have central big data repositories as existing in other areas. Clinical networks are needed to address accrual of sufficient patients for both genomic profiling and conduction of clinical trials.

In this context, Genomics and Personalized Medicine for all through Artificial Intelligence in Haematological Diseases (GENOMED4ALL), under the framework H2020 "DT-TDS-04 AI for Genomics and Personalised Medicine", aims to support the pooling of genomic, clinical data and other "-omics" health data (clinical data from Electronic Health Record, PET, MRI and CT, Next Generation Sequencing, etc.) through a secure and privacy respectful data sharing platform based on the novel Federated Learning scheme, to advance research in personalised medicine in haematological diseases thanks to advanced Artificial Intelligence (AI) models and standardized interoperable sharing of cross-border data, without needing to directly share any sensitive clinical / patients' data.

GenoMed4All uses the existing infrastructures and initiatives, including powerful High-Performance Computing facilities, hospital registries, data processing tools, and pre-existing repositories towards facilitating personalised medicine in common, rare and ultrarare haematological diseases to demonstrate the versatility and utility of the solutions. For this action, GenoMed4All has involved clinical partners from ERN-EuroBloodNet, including the following members and experts:

  1. Humanitas Mirasole - Matteo Giovanni Della Porta
  2. Vall d'Hebron Institut de Recerca - María del Mar Mañú Pereira
  3. Assistance Publique - Hôpitaux de Paris - Pierre Fenaux, Mariane de Montalembert and Pablo Bartolucci
  4. Universitair Medisch Centrum Utrecht - Eduard van Beers
  5. The Cyprus Institute of Neurology & Genetics - Marina Kleanthous and Petros Kountouris
  6. Universita Degli Studi di Padova - Raffaella Colombatti, Gianni Bisogno, Vania Munaretto

GenoMed4All will start by leveraging on ERN-EuroBloodNet healthcare information and repositories that will be gathered through European Rare Blood Disorders Platform (ENROL).

ERN-EuroBloodNet is also responsible for the Genomed4all Educational program for both health professionals and patients' community that will be organized as a series of on-live webinars under the programs Topic on Focus in 2023-2024.

ePAGs will be Invited to join the Educational Scientific & Technical committee responsible for the design and Implementation of the educational program.

GenoMed4All will demonstrate the potential and benefits of trustable and explainable AI technologies, with a novel approach to AI models and algorithms to exploit the powerful set of "-omics" data which will be at researchers' disposal leading to more reliable and meaningful outcomes for advancing research and personalised medicine, with 3 use cases covering oncological and non-oncological Haematological Diseases, including: Myelodysplastic síndromes, Multiple Myeloma, and Sickle Cell Disease.

GenoMed4All is coordinated by Dr. Federico Álvarez from Universidad Politecnica Madrid (Spain) and counts with the participation of 23 partners. 

Nowadays two different GENOMED4all studies about two haematological disorders are covered in ERN-EuroBloodNet:

  1. Myelodysplastic Syndromes: GENOMED4ALL: Improving MDS Classification and Prognosis by AI
  2. Sickel Cell Disease

Euro Blood Net