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

医疗保健是增长最快的27欧元支出。个人化医疗，包括针对预防、诊断、监测和治疗的量身定做的方法，对于减轻疾病负担和提高生活质量至关重要。为了开发准确和个性化的干预措施，需要将多种数据类型(多模式数据)集成到人工智能模型中。对于基因组数据的纳入尤其如此，基因组数据信息丰富，针对个人，随着测序成本的不断下降，基因组数据的可获得性越来越普遍。由于隐私和治理需求、多种标准的存在、不同的数据格式以及潜在的数据复杂性和数据量，多模式数据集成是复杂的。NextGen工具将在几个心血管使用案例的数据集成方面消除障碍。NextGen交付的成果将包括用于多模式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，在分布式基础设施上更有效的联邦学习，更有效和可访问的基因组数据分析工具，提高变异优先排序的临床效率，可扩展的基因组数据精选，以及改进的数据可发现性和数据管理。对现有形势的全面差距分析，考虑到正在进行的倡议，将确保下一代交付成果具有前瞻性和互补性。下一代嵌入式治理框架和强有力的监管程序将确保安全的多司法管辖区多主体多模式数据访问，并与“100万基因组”和欧洲健康数据空间等倡议保持一致。几个真实世界的试点将展示NextGen工具的有效性，并将作为一个独立的数据生态系统和全面的概念验证集成到由五个协作临床站点组成的NextGen Pathfinder网络中。

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.