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 /摘要 保护数据资产的隐私 - 同时支持数据共享和 交流 - 维持基因组学价值的至关重要 医学和人口健康。稀有疾病最重要的挑战之一 一般的研究是缺乏综合，隐私的平台来促进高效 患者招聘和数据共享。稀有病数据集分散，不完整， 稀疏。这些数据可访问性的障碍可以防止有效的数据聚合， 转化为临床益处，并促进全球患者和科学的疾病 社区。没有数据共享机制可以使激励措施保持一致 安全性和隐私，分散和孤立的数据将严重限制基因组的价值 将来的医学。 我们的目的是通过设计和开发组件来解决这些问题，使 在计算上可行的保密性稀有疾病社区参与平台， 强调公平（可访问，可访问，可互操作，可重复使用）数据原理。 具体来说，我们将在网络上部署创新的加密技术 应用程序简化了患者之间的相互作用，数据交换和分析， 倡导组织，研究人员和治疗开发人员。以我们目前的安全为基础 符合HIPAA的基础设施，在此快速提案的第一阶段，我们将在我们的船上 现有的Xia-Gibbs综合征（XGS）注册表以确保概念证明 该平台很容易推广到其他罕见疾病。在第二阶段，我们在船上两个 其他罕见疾病群落，我们将实施软件优化和 GPU加速器以确保平台可以扩展到数据隐私 - 和 拥有所有权的所有权参与平台和适用于所有稀有疾病的注册表 社区和数据集。 最终，这里开发的方法将允许研究人员和治疗 开发人员扩大了搜索和检索基本患者数据的稀有疾病的能力 研究。我们预计这种工具的创建将加速稀有疾病的生长 全球注册机构，创造了积极的外部性，使整个行业受益 可以允许宽度访问以前无法访问的数据。