The Global Alliance for Genomics and Health: Setting the Standards for Genomics and Health-Related Data Sharing

项目总结 基因组测序成本的降低将在未来几年产生数百万份来自这两个国家的样本 研究和医疗保健。共享这些数据对于了解人类疾病并最终帮助 患者，但这样做需要社区就收集、存储、转移、 访问和分析数据。该提案将支持全球基因组学与健康联盟 (GA4GH；www.ga4gh.org)通过制定标准和政策来帮助基因组研究和人类健康 在世界各地的机构和国家之间有效和负责任地共享数据。 为了促进全球基因组和健康相关数据的负责任共享，基因组学研究人员， 临床医生、生物信息学家、软件工程师和行业专家将作为一个单一的GA4GH一起工作 社区提供基因组数据共享标准和框架(例如，本体论、指南、技术 模式)。基于我们五年召集利益相关者和开发工作产品的经验，我们 将在最早的发展阶段让基因组学和卫生界参与进来，以确保我们的工作 是有用的，并准备好被采用。 我们将利用数百名积极贡献者的共同努力来推动发展 超出我们小规模员工团队能力范围的活动。这些贡献者将在八个GA4GH工作范围内工作 流，每个流都专注于开发关键标准和框架，包括基于云的数据 联合、可伸缩架构和接口、数据模型和文件格式。我们将深入参与 更广泛的医疗、研究和商业部门，包括推出健康基因组学 实施论坛，以推动临床领域的吸收。 用于搜索、发现、交换和分析基因组和临床数据的联合生态系统 将实现一个全球学习卫生系统，推动研究和临床护理超越其 个人能力，并依赖于整个 社区。我们设想的未来是，全套GA4GH标准使所有临床医生、遗传学家、 研究人员将在世界集体基因组数据中进行搜索，以揭示意想不到的基因疾病 关联，做出否则不可能的药物反应预测，并通常在一个 竞争的节奏--无论他们的手段或位置如何。基因组医学的希望在于 十字路口取决于整个社区的和谐，并将显著提高人类 如果我们成功了，就会有经验。我们认为，GA4GH对于这一成功是必要的。

PROJECT SUMMARY The decreasing cost of genomic sequencing will yield millions of samples in the coming years from both research and healthcare. Sharing this data is necessary to understand human diseases and eventually help patients, but doing so requires the community to agree on common methods for collecting, storing, transferring, accessing, and analyzing data. This proposal will support the Global Alliance for Genomics and Health (GA4GH; www.ga4gh.org) to aid genomic research and human health by developing standards and policies for effective and responsible data sharing between institutions and countries around the world. To advance responsible sharing of global genomic and health-related data, genomics researchers, clinicians, bioinformaticians, software engineers, and industry experts will work together as a single GA4GH community to deliver genomic data sharing standards and frameworks (e.g., ontologies, guidelines, technical schemas). Building on our five years of experience convening stakeholders and developing work products, we will engage the genomics and health community in the very earliest stages of development to ensure our work is useful and ready for adoption. We will leverage the combined effort of several hundred active contributors to advance development activities beyond the capacity of our small staff team. These contributors will work within eight GA4GH Work Streams, each focused on developing critical standards and frameworks, including cloud-based data federation, scalable schemas and interfaces, data models, and file formats. We will engage deeply within the broader healthcare, research, and commercial sectors, including the launch of the Genomics in Health Implementation Forum to drive uptake in the clinical domain. A federated ecosystem for searching, discovering, exchanging, and analyzing genomic and clinical data will enable a global learning health system that advances both research and clinical care beyond their individual capacities and depends on standards and interoperable frameworks embraced by the entire community. We envision a future in which the full suite of GA4GH standards enables all clinicians, geneticists, and researchers to search across the world’s collective genomic data to reveal unanticipated gene-disease associations, make otherwise impossible drug-response predictions, and generally participate in genomics at a competitive pace—regardless of their means or location. The promise of genomic medicine lies at a crossroads that depends on harmonization across the community and will significantly enhance the human experience if we succeed. We believe that GA4GH is necessary to that success.