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，包括针对预防、诊断、监测和治疗的量身定制方法，对于减轻疾病负担和改善生活质量至关重要。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。这对于包含基因组数据来说尤其如此，这些数据信息丰富且具有个体特异性，随着测序成本的持续下降，这些数据更容易获得。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底层数据的复杂性和数量，多模式数据集成非常复杂。NextGen工具将消除一些心血管用例的数据集成障碍。NextGen交付成果将包括用于多模式数据集成和研究可移植性的工具，将安全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；提高变异排序的临床效率；可扩展基因组数据管理；改进了数据可发现性和数据管理。对现有环境进行全面的差距分析，考虑正在进行的举措将确保下一代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与“100多万基因组”和欧洲卫生数据空间等举措相一致的多司法管辖区多组多模式数据访问的安全性。几个实际试点项目将展示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NextGen Pathfinder网络中，该网络由五个合作临床站点组成。

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.