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

全球基因组学与健康联盟：制定基因组学和健康相关数据共享标准

• 批准号: 10554330
• 负责人: HEIDI L REHM
• 金额: $ 133.85万
• 依托单位: BROAD INSTITUTE, INC.
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-02-05 至 2026-01-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10554330
• 关键词: Adopted; Adoption; Advanced Development; Agreement; Applications Grants; Area; Award; Clinical; Clinical Data; Commercial Sectors; Communication; Communities; Community Health; Complex; Computer software; Country; Data; Data Set; Development; Disease; Documentation; Ecosystem; Educational workshop; Ensure; Ethics; Funding; Future; Genes; Genome; Genomic medicine; Genomics; Guidelines; Health; Health system; Healthcare; Human; Human Biology; Human Rights; Individual; Industry; Institution; International; Learning; Link; Location; Malignant Neoplasms; Medicine; Methods; Mind; Mission; Ontology; Patients; Pattern; Persons; Policies; Precision Health; Rare Diseases; Research; Research Personnel; Resolution; Sampling; Secure; Software Engineering; Specific qualifier value; Stream; Systems Analysis; Training; Transcend; Work; advanced system; clinical care; cloud based; cohort; cost; data exchange; data modeling; data sharing; disease diagnosis; drug response prediction; experience; federated data; file format; genetic variant; genomic data; health data; healthcare community; human disease; innovation; interoperability; meetings; success; tool; uptake; virtual; webinar

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.

项目摘要 基因组测序的成本下降将在未来几年中产生数百万个样本 研究与医疗保健。共享这些数据是必要的，以了解人类疾病，有时会有所帮助 患者，但这样做要求社区就收集，存储，转移的常见方法达成共识 访问和分析数据。该建议将支持全球基因组和健康联盟 （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 机构和世界各国之间的有效和负责任的数据共享。 为了促进全球基因组和健康相关数据的负责共享，基因组研究人员， 临床医生，生物信息学家，软件工程师和行业专家将作为单个GA4GH一起工作 提供基因组数据共享标准和框架的社区（例如，本体，准则，技术 模式）。在我们召集利益相关者和开发工作产品的五年经验的基础上，我们 将在开发的早期阶段与基因组学和健康社区联系，以确保我们的工作 很有用，可以采用。 我们将利用数百名活跃贡献者的综合努力来提高发展 超出我们小型员工团队能力的活动。这些贡献者将在八项GA4GH工作中工作 流，每个流都着重于制定关键标准和框架，包括基于云的数据 联合，可扩展模式和接口，数据模型和文件格式。我们将深入参与 更广泛的医疗保健，研究和商业领域，包括卫生基因组学的启动 实施论坛以推动临床领域的吸收。 联合生态系统用于搜索，发现，交换和分析的基因组和临床数据 将使全球学习卫生系统能够超越研究和临床护理 个人能力，取决于整个标准和可互操作的框架 社区。我们设想了一个未来 研究人员搜索全球集体基因组数据，以揭示意外的基因疾病 关联，使其他不可能的药物反应预测，并且通常参与基因组学 竞争空间 - 没有他们的手段或位置。基因组医学的希望在于 依赖整个社区协调并将大大增强人类的十字路口 如果我们成功的话，经验。我们认为，GA4GH对于这一成功是必要的。