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: 10343724
• 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/10343724
• 关键词: Adopted; Adoption; Advanced Development; Applications Grants; Area; Award; Clinical; Clinical Data; Commercial Sectors; Communication; Communities; Community Health; Complex; Computer software; Country; Data; Data Analyses; Data Set; Development; Disease; Documentation; Ecosystem; Educational workshop; Ensure; Ethics; Funding; Future; Genes; Genome; Genomic medicine; Genomics; Guidelines; Health; Health Care Research; 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; Stream; Systems Analysis; Training; Transcend; Work; advanced system; clinical care; cloud based; cohort; cost; data exchange; data modeling; data sharing; data tools; disease diagnosis; drug response prediction; experience; federated computing; file format; genetic variant; genomic data; health data; healthcare community; human disease; innovation; interoperability; meetings; success; 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 基因组测序成本的下降将在未来几年内产生数百万个样本， 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 病人，但这样做需要社区就收集，储存，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 （GA 4GH; www.ga4gh.org）通过制定标准和政策， 在世界各地的机构和国家之间进行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GA 4GH一起工作 社区提供基因组数据共享标准和框架（例如，本体、指南、技术 schemas）。基于我们五年来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就与基因组学和健康界合作，以确保我们的工作 是有用的，并准备通过。 我们将利用数百名积极贡献者的共同努力来推动发展 这超出了我们小团队的能力。这些贡献者将在八个GA 4GH工作 Streams，各自专注于开发关键标准和框架，包括基于云的数据 联邦、可伸缩模式和接口、数据模型和文件格式。我们将深入参与 更广泛的医疗保健，研究和商业部门，包括推出健康基因组学 实施论坛，以推动临床领域的采用。 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 将使全球学习卫生系统，推动研究和临床护理超越其 个人能力，并取决于标准和共同操作的框架所接受的整体 社区我们设想的未来，GA 4GH标准的全套使所有临床医生，遗传学家， 和研究人员在世界范围内搜索集体基因组数据，以揭示意想不到的基因疾病 协会，使否则不可能的药物反应预测，并普遍参与基因组学在一个 竞争的步伐-无论他们的手段或位置。基因组医学的前景在于 十字路口，这取决于整个社区的协调，并将大大提高人类 经验，如果我们成功了。我们相信GA 4 GH对于这一成功是必要的。