The AnVIL Data Ecosystem DACReS Supplement

项目摘要 本行政副刊的目标是推进与以下相关的实施科学研究，并建立技术 以道德方式获取人类基因组数据的能力。基因组和相关的表型数据为科学研究的引擎提供动力 在精确医学时代发现，但数据正在以超过能力的速度和数量产生 许多机构的安全和高效访问。现有的管理访问的策略依赖于机构- 指导数据访问委员会(DAC)审查和手动核实数据使用限制的具体程序。两者都有 战略与向基于云的研究环境的转变不相容，铁匠数据就是一个例子 生态系统不完善，不足以满足对访问请求进行动态、实时裁决的高需求。家长助学金 为此，开发了数据使用本体系统(DUOS)，创新性地解决了这一问题。Duos是一种 一种为DAC提供启用软件的工作流和策略的服务，包括在 使用全球标准的现有DAC工作流程。然而，在我们的初步评估过程中，我们认识到 隶属于美国和国外公共资助的基因组数据库的DACS将需要额外的技术支持 和适应能力，以促进成功实施DUOS和未来的半自动工作流解决方案 跟它差不多。安全、合规和高效的数据访问管理对科学速度的重要性，以及缺乏 这样做的标准程序和政策，创造了明确的机会，以(I)研究影响 以及DAC如何实施工作流解决方案，以提高数据访问审查的一致性和效率，以及(Ii) 采用国际协商一致的方式，制定发审会的程序标准。要实现这些目标 AIMS，Anvil团队将与数据访问委员会审查标准工作的三名共同负责人合作 其成员代表来自美国国立卫生研究院的DAC和最大的公共资助的基因组数据 世界上最大的仓库。总而言之，铁匠和达克斯创建了一个独特的跨学科团队，他们 协作将生成一个新的证据基础，以告知未来的DAC政策如何考虑机器辅助 审查获取有价值的基因组数据资源的请求，并将制定和验证程序标准 现有的、新的和未来的DAC可供参考。

Project Summary The goals of this administrative supplement are to advance implementation science research related to, and build technical capacities in ethical access to human genomic data. Genomic and associated phenotypic data fuel the engines of scientific discovery in the precision medicine era, but data are being generated at a pace and in volumes that overwhelm the ability of many institutions to enable their secure and efficient access. Existing strategies for governing access rely on institution- specific procedures guiding data access committee (DAC) review and manual verification of data use restrictions. Both strategies are incompatible with the shift towards cloud-based research environments exemplified by the AnVIL Data Ecosystem and insufficient to meet high demand for dynamic, real-time adjudication of access requests. The parent grant to this supplement developed the Data Use Ontology System (DUOS) to innovatively solve this problem. DUOS is a service which provides software-enabled workflows and policies for DACs, including semi-automating two steps in the existing DAC workflow using global standards. In the course of our preliminary evaluations, however, we recognized that DACs affiliated with publicly funded genomic data repositories in the U.S. and abroad will require additional technical and adaptive capacities to facilitate successful implementation of DUOS and future semi-automated workflow solutions similar to it. The criticalness of secure, compliant, and efficient data access management to the speed of science, and lack of standard procedures and policies to do so, creates clear opportunities to (i) study relevant factors that influence whether and how DACs implement workflow solutions that improve consistency and efficiency of data access review and to (ii) develop procedural standards for DACs using an international, consensus deliberation approach. To accomplish these aims, the AnVIL team will collaborate with three co-leads of the Data Access Committee Review Standards Working Group (DACReS WG), whose members represent DACs from the NIH and the largest publicly funded genomic data repositories in the world. Taken together, the AnVIL and DACReS create a uniquely interdisciplinary team whose collaboration will generate a novel evidence basis to inform how future DAC policies account for machine-assisted review of access requests to valuable genomic data resources and that will develop and validate procedural standards upon which current, new and prospective DACs can refer.