Privacy-Preserving Connectivity for Rare-Disease Patients

摘要/摘要 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确度价值创造至关重要 医学和人口健康。罕见疾病面临的最重大挑战之一 总体来说，研究是缺乏综合的、保护隐私的平台，以方便高效 患者招募和数据共享。罕见疾病数据集支离破碎，不完整， 而且很稀疏。数据可访问性的这些障碍阻碍了有效的数据聚集， 转化为临床收益，并向全球患者和科学人员推广疾病 社区。如果没有数据共享机制来调整激励机制，同时保护 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 在计算上可行的隐私保护罕见病社区参与平台， 强调公平(可查找、可访问、可互操作、可重复使用)数据原则。 具体地说，我们将在网络环境中部署创新的加密技术 应用程序简化了患者之间的交互、数据交换和分析， 倡导团体、研究人员和治疗开发商。在我们目前安全的基础上， HIPAA兼容的基础设施，在此快速通道计划的第一阶段中，我们将 现有的夏-吉布斯综合征(XGS)登记建立概念验证，同时确保 该平台很容易推广到其他罕见疾病。在第二阶段，当我们登上二号 其他罕见疾病社区，我们将实施软件优化和 GPU加速，以确保平台可以扩展到数据隐私-以及 适用于所有罕见疾病的保留所有权的约定平台和注册 社区和数据集。 最终，这里开发的方法将使研究人员和治疗师 开发人员扩展了搜索和检索罕见疾病的基本患者数据的能力 研究。我们预计，这种工具的创建将加速罕见疾病的发展 全球注册，创造正外部性，使整个行业受益 使得能够广泛访问以前无法访问的数据。

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.