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

基本信息

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
项目类别：
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

项目摘要

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.

项目概要基因组测序成本的降低将在未来几年从这两个领域产生数百万个样本共享这些数据对于了解人类疾病并最终提供帮助是必要的。患者，但这样做需要社区就收集、存储、转移、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世界各地机构和国家之间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，追随者、生物信息学家、软件工程师和行业专家将作为一个 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，我们将在开发的最初阶段让基因组学和健康界参与进来，以确保我们的工作有用并可供采用。我们将利用数百名积极贡献者的共同努力来推动发展这些贡献者将在 8 个 GA4GH 工作范围内开展超出我们小团队能力的活动。 Streams，每个都专注于开发关键标准和框架，包括基于云的数据我们将深入研究联合、可扩展模式和接口、数据模型和文件格式。更广泛的医疗保健、研究和商业领域，包括推出健康基因组学推动临床领域采用的实施论坛。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建立一个全球学习健康系统，推动研究和临床护理超越其现有水平个人能力，并取决于整个组织所接受的标准和可互操作框架我们设想未来，全套 GA4GH 标准使所有精英、遗传学家、和研究人员搜索世界各地的集体基因组数据以揭示意外的基因疾病关联，进行不可能的药物反应预测，并且通常参与基因组学研究竞争步伐——无论其手段或地点如何，基因组医学的前景在于。十字路口取决于整个社区的协调，并将显着提高人类如果我们成功的话，我们相信 GA4GH 是必要的。