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 though Artificial Intelligence in Haematological Diseases (GENOMED4ALL) project proposal has been invited for the grant preparation phase under the call H2020 "DT-TDS-04: AI for Genomics and Personalised Medicine" for supporting 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 will make use of 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:
GenoMed4All will start by leveraging on ERN-EuroBloodNet healthcare information and repositories that will be gathered through European Rare Blood Disorders Platform (ENROL), besides growing to incorporate other repositories in the project lifetime from public or private sources. The strategy defined is to start to integrate the 10 clinical partners repositories involved in the project to later enlarge it to the overall ERN-EuroBloodNet 66 relevant clinical repositories in 15 Member States, besides 20 repositories not present in EuroBloodNet.
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.
Nowadays two different GENOMED4all studies about two haematological disorders are covered in ERN-EuroBloodNet: