Development, implementation, and validation of an open-source Federated Learning platform to accelerate innovation and boost personalized medicine in rare and ultra-rare hematological diseases: an initiative by GenoMed4All Consortium

作者：G. Asti, P. Apellaniz, L. Carota, F. Casadei, D. Piscia, M. Delleani, I. Isasa, D. M. Duarte, C. Rollo, C. G. Martin, B. Arroyo Galende, N. Saha Cyrille Merleau, M. Van Deventer, B. Garcia, E. Sauta, M. Bicchieri, A. Rizzo, N. Léa, D. Lopez, A. Campagna, G. Maggioni, L. Lanino, A. Buizza, E. Iascone, A. Bruseghini, M. Zampini, A. Almodovar, S. Uribe, V. Savevski, T. Haferlach, W. Kern, P. Fenaux, L.-P. Zhao, M. M. Pereira, U. Platzbecker, M. Díez-Campelo, A. Krogh, R. Colombatti, K. Marias, E. V. van Beers, P. Kountouris, E. Rossi · 发表于：medRxiv · 年份：2025 · DOI：10.1101/2025.08.07.25333044 · 被引用次数：1 · 研究领域：Medicine

Background. Rare haematological diseases (RHD) pose significant clinical challenges due to their heterogeneity, limited patient populations, and fragmented datasets. To overcome these limitations, improve access to, and use of real-world multimodal data for scientific and clinical purposes, the GenoMed4All Consortium developed an open-source Federated Learning (FL) platform. This platform enables collaborative, privacy-preserving AI model training without the need to centralize sensitive patient information. Methods. The FL platform was deployed within EuroBloodNet, the European Reference Network for RHD, across multiple use cases, including myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), chronic myelomonocytic leukemia (CMML), and multiple myeloma (MM). Multimodal datasets (including clinical, genomic information together with histopathological and radiological extracted features) were utilized. Predictive models (DeepSurv and SAVAE) and generative Artificial intelligence (AI) algorithms (CTGAN, Bayesian Networks, and VAE-BGM) were trained using a federated approach. A dedicated data harmonization pipeline based on the FHIR standard ensured consistency across participating centers. Findings. Federated models achieved performance comparable to centralized approaches, with highest benefit for institutions with smaller datasets. The platform enabled integration of multimodal data demonstrating flexibility across diverse data types and clinical endpoints. The incl...