The AnVIL Data Ecosystem DACReS Supplement

项目摘要 这份行政补充文件的目标是推进与实施有关的科学研究， 人类基因组数据的道德获取能力。基因组和相关的表型数据为科学研究的引擎提供了动力。 发现在精准医学时代，但数据正在产生的速度和数量，压倒了能力 许多机构，使他们的安全和有效的访问。现有的管理获取的战略依赖于机构- 指导数据访问委员会（DAC）审查和手动验证数据使用限制的特定程序。两 战略与向基于云的研究环境的转变不相容，例如AnVIL数据 生态系统不足以满足对访问请求的动态、实时裁决的高需求。父母补助金 针对这一问题，开发了数据使用本体系统（DUOS）。DUOS是一个 服务，为DAC提供软件支持的工作流和策略，包括半自动化的两个步骤， 使用全球标准的现有发援会工作流程。然而，在我们的初步评估过程中，我们认识到， 与美国和国外公共资助的基因组数据库相关的DAC将需要额外的技术支持， 和适应能力，以促进DUOS和未来半自动化工作流程解决方案的成功实施 安全、合规和高效的数据访问管理对科学发展速度的重要性， 标准程序和政策，创造了明确的机会，（一）研究影响是否 以及DAC如何实施工作流程解决方案，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审议方法，为DAC制定程序标准。完成这些 为了实现这一目标，AnVIL团队将与数据访问委员会审查标准工作组的三位联合负责人合作 DACReS WG，其成员代表来自NIH的DAC和最大的公共资助的基因组数据 世界上的仓库。总之，AnVIL和DACReS创建了一个独特的跨学科团队， 合作将产生一个新的证据基础，以告知未来的DAC政策如何解释机器辅助 审查对有价值的基因组数据资源的访问请求，并将制定和验证程序标准 当前的、新的和未来的DAC可以参考。

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.