NEXT GENERATION TOOLS FOR GENOME-CENTRIC MULTIMODAL DATA INTEGRATION IN PERSONALISED CARDIOVASCULAR MEDICINE

医疗保健是欧盟27国增长最快的支出。个性化医疗，包括量身定制的预防、诊断、监测和治疗方法，对于减轻疾病负担和提高生活质量至关重要。需要将多种数据类型（多模态数据）集成到人工智能模型中，以开发准确和个性化的干预措施。对于包含基因组数据来说尤其如此，基因组数据信息丰富且具有个体特异性，并且随着测序成本的持续下降，更经常可用。由于隐私和治理要求、多个标准的存在、不同的数据格式以及底层数据的复杂性和数量，多模式数据集成是复杂的。NextGen工具将消除数据集成中的障碍几个心血管用例。NextGen可交付成果将包括用于多模态数据集成和研究便携性的工具，将安全的联邦分析扩展到基因组计算，通过分布式基础设施进行更有效的联邦学习，用于基因组数据分析的更有效和可访问的工具;提高变异优先级的临床效率;可扩展的基因组数据策展;以及改进的数据可重复性和数据管理。对现有环境进行全面的差距分析，将正在进行的计划考虑在内，将确保NextGen可交付成果具有前瞻性和互补性。NextGen嵌入式治理框架和强大的监管流程将确保安全的多管辖区多组学多模式数据访问，与包括“1+百万个基因组”和欧洲健康数据空间在内的计划保持一致。几个真实世界的试点将展示NextGen工具的有效性，并将集成到NextGen Pathfinder网络的五个合作临床站点，作为一个独立的数据生态系统和全面的概念验证。

Healthcare is the fasted growing EU27 expenditure. Personalised medicine, comprising tailored approaches for prevention, diagnosis, monitoring and treatment is essential to reduce the burden of disease and improve the quality of life. Integration of multiple data types (multimodal data) into artificial intelligence models is required for the development of accurate and personalised interventions. This is particularly true for the inclusion of genomic data, which is information-rich and individual-specific, and more routinely available as the cost of sequencing continues to fall. Multimodal data integration is complex due to privacy & governance requirements, the presence of multiple standards, distinct data formats, and underlying data complexity and volume. NextGen tools will remove barriers in data integration several cardiovascular use cases. NextGen deliverables will include tooling for multimodal data integration and research portability, extension of secure federated analytics to genomic computation, more effective federated learning over distributed infrastructures, more effective and accessible tools for genomic data analysis; improved clinical efficiency of variant prioritisation; scalable genomic data curation; and improved data discoverability and data management. A comprehensive gap analysis of the existinglandscape, factoring ongoing initiatives will ensure NextGen deliverables are forward-looking and complementary. NextGen embedded governance framework and robust regulatory processes will ensure secure multi-jurisdictional multiomic multimodal data access alignedwith initiatives including “1+ Million Genomes” and the European Health Data Space. Several real-world pilots will demonstrate the effectiveness of NextGen tools and will be integrated in the NextGen Pathfinder network of five collaborating clinical sites as a selfcontained data ecosystem and comprehensive proof of concept.