Privacy-Preserving Connectivity for Rare-Disease Patients

罕见疾病患者的隐私保护连接

• 批准号: 10774186
• 负责人: Adam Wesley Hansen
• 金额: $ 5.5万
• 依托单位: GENEIAL LLC
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-05-01 至 2023-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10774186
• 关键词: Acceleration; Address; Advocacy; Clinical; Communities; Computer software; Data; Data Aggregation; Data Set; Development; Disease; Ensure; FAIR principles; Future; Generations; Genetic Diseases; Genomic medicine; Growth; Health Insurance Portability and Accountability Act; Incentives; Industry; Infrastructure; Investments; Ownership; Patient Recruitments; Patients; Phase; Privacy; Rare Diseases; Registries; Research; Research Personnel; Secure; Security; Syndrome; Technology; Therapeutic; Translations; community engagement; community setting; cryptography; data exchange; data privacy; data sharing; design; disease registry; innovation; population health; precision genomic medicine; preservation; prevent; privacy preservation; research and development; therapeutic development; tool; web app

Abstract / Summary Safeguarding privacy of data assets – while simultaneously facilitating data sharing and exchange – is paramount to sustaining the value creation of genomics for precision medicine and population health. One of the most significant challenges for rare disease studies in general is the lack of integrated, privacy-preserving platforms to facilitate efficient patient recruitment and data sharing. Rare disease datasets are fragmented, incomplete, and sparse. These barriers to data accessibility prevent efficient data aggregation, translation to clinical benefits, and disease promotion to the global patient and scientific communities. Without data sharing mechanisms that align incentives while preserving security and privacy, fragmented and siloed data will severely limit the value of genomic medicine in the future. We aim to address these issues by designing and developing components enabling a computationally feasible privacy-preserving rare disease community engagement platform, emphasizing FAIR (findable, accessible, interoperable, reusable) data principles. Specifically, we will deploy innovative cryptography technologies in the context of a web application streamlining interaction, data exchange, and analysis between patients, advocacy groups, researchers, and therapeutic developers. Building on our current secure, HIPAA-compliant infrastructure, in Phase I of this fast-track proposal we will onboard our existing Xia-Gibbs Syndrome (XGS) Registry to establish proof-of-concept while ensuring the platform is readily generalizable to other rare diseases. In Phase II, as we onboard two additional rare disease communities, we will implement software optimizations and GPU-acceleration to ensure the platform can scale to a data privacy- and ownership-preserving engagement platform and registry applicable to all rare disease communities and datasets. Ultimately, the approaches developed here will allow researchers and therapeutic developers expanded ability to search for and retrieve essential patient data for rare disease research. We anticipate the creation of such a tool will accelerate the growth of rare disease registries worldwide, creating positive externalities benefitting the entire industry by enabling widespread access to previously inaccessible data.

摘要/总结 保护数据资产的隐私——同时促进数据共享和 交换——对于维持基因组学的精准价值创造至关重要 罕见疾病面临的最重大挑战之一。 总体而言，研究表明缺乏集成的、隐私保护的平台来促进高效 患者招募和数据共享分散、不完整、 这些数据可访问性障碍阻碍了有效的数据聚合， 转化为临床效益，并向全球患者和科学界推广疾病 没有在保护的同时协调激励措施的数据共享机制。 安全和隐私、碎片化和孤立的数据将严重限制基因组的价值 未来的医学。 我们的目标是通过设计和开发组件来解决这些问题 计算上可行的保护隐私的罕见疾病社区参与平台， 强调公平（可查找、可访问、可互操作、可重用）数据原则。 具体来说，我们将在网络环境中部署创新的密码技术 应用程序简化患者之间的交互、数据交换和分析， 倡导团体、研究人员和治疗开发人员以我们当前的安全、 符合 HIPAA 的基础设施，在此快速通道提案的第一阶段，我们将采用我们的 现有的夏吉布斯综合症 (XGS) 登记处，以建立概念验证，同时确保 该平台很容易推广到其他罕见疾病，在第二阶段，我们已经推出了两种。 其他罕见疾病社区，我们将实施软件优化和 GPU 加速确保平台可以扩展到数据隐私和 适用于所有罕见疾病的所有权保留参与平台和登记处 社区和数据集。 最终，这里开发的方法将使研究人员和治疗方法 开发人员增强了搜索和检索罕见疾病重要患者数据的能力 我们预计这种工具的创建将加速罕见疾病的发展。 全球范围内的注册管理机构，创造积极的外部性，使整个行业受益 实现对以前无法访问的数据的广泛访问。