Integrated Knowledge Management Framework for Clinical Genomics

临床基因组学综合知识管理框架

基本信息

批准号：
10662487
负责人：
Robert Richard Freimuth
金额：
$ 47.7万
依托单位：
MAYO CLINIC ROCHESTER
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：
2021-09-10 至 2026-06-30
项目状态：
未结题

项目摘要

PROJECT SUMMARY/ABSTRACT The rapid growth of genomic medicine reflects increases in our understanding of how genomics impacts health. Advances in the clinical utility of patient genomic information to inform diagnostic and therapeutic decision-making are driving increases in testing and the subsequent reporting of genomic data to electronic health records (EHRs) and other clinical systems. Germline genomic data are presumed to be stable over a patient’s life, but the interpretation of those data and its clinical utility will continue to evolve as new discoveries are made and translated to clinical practice. Furthermore, modern interpretations of genomic data often include multi-step processes in which one interpretation is used to inform another. The temporally dynamic nature of genomic information and knowledge (GIK) and the inter-dependencies among interpretations make a formal knowledge model for those data essential. Existing approaches to represent and manage GIK are not sufficient to fully support the needs of genomic medicine and thus a new approach must be developed. The specific objective of this research program is to develop and evaluate the Genomic Interpretation and Knowledge (GenIK) Framework for capturing interpretations related to clinical genomic results as standardized, structured data. The GenIK framework will: 1) facilitate more robust integration of genomic data into EHRs; 2) enable scalable knowledge management; 3) enable utilization of GIK by other systems; 4) enable clinical, translational, and discovery research; and 5) enable meaningful data sharing of GIK. Moreover, because the framework will be based on a generalized, standards-based knowledge model, it will elegantly extend to support new types of genomic interpretations and uses for those data. The GenIK framework will fill a critical gap in the representation, management, and delivery of GIK, thereby advancing genomic medicine. The proposed research program will develop foundational resources that will enable more seamless integration of genomics within both research and clinical settings. Research Area 1 will focus on discovery activities that support the development of the GenIK framework. Research Area 2 will focus on the translation and application of the GenIK framework within clinical systems. Research Area 3 will focus on dissemination to and engagement with stakeholder communities. The main hypothesis of this research is that implementations based on the GenIK framework will more fully capture GIK than existing approaches, thereby improving the management, use, and sharing of GIK. The Genomic Innovator Award will enable, in team-science projects and in collaboration with genomic research consortia, the study of the requirements for and implementation of scalable GIK management within clinical systems. The resources developed by the proposed research program will allow the capture and exchange of GIK to take place at the speed of discovery, supporting research in precision medicine as part of a learning healthcare system and accelerating scientific and medical breakthroughs that improve human health.

项目概要/摘要基因组医学的快速发展反映出我们对基因组学影响的理解不断加深患者基因组信息在临床应用中为诊断和治疗提供信息的进展。决策正在推动测试的增加以及随后将基因组数据报告给电子设备健康记录 (EHR) 和其他临床系统数据被认为在一段时间内保持稳定。患者的生命，但这些数据的解释及其临床实用性将随着新的发现而继续发展此外，基因组数据的现代解释通常包括多步骤过程，其中一种解释用于告知另一种解释的时间动态性质。基因组信息和知识（GIK）以及解释之间的相互依赖性使得正式的现有的 GIK 表示和管理方法还不够。为了充分支持基因组医学的需求，因此必须开发一种新的方法。该研究计划的具体目标是开发和评估基因组解释和用于捕获与临床基因组结果相关的解释的知识（GenIK）框架 GenIK 框架将：1）促进基因组数据更稳健的整合。纳入 EHR；2) 实现可扩展的知识管理；3) 实现其他系统对 GIK 的利用；实现临床、转化和发现研究；5) 实现有意义的 GIK 数据共享。因为该框架将基于通用的、基于标准的知识模型，所以它将优雅地 GenIK 框架将扩展以支持新型基因组解释和用途。 GIK 的表达、管理和交付方面存在重大差距，从而推动基因组医学的发展。拟议的研究计划将开发基础资源，以实现更无缝的集成研究和临床环境中的基因组学研究领域 1 将重点关注以下发现活动：支持 GenIK 框架的开发，研究领域 2 将重点关注翻译和 GenIK 框架在临床系统中的应用将侧重于传播到本研究的主要假设是实施。基于 GenIK 框架将比现有方法更全面地捕获 GIK，从而改进 GIK 的管理、使用和共享。基因组创新者奖将促进团队科学项目以及与基因组研究的合作联盟，研究临床中可扩展 GIK 管理的要求和实施拟议的研究计划开发的资源将允许捕获和交换 GIK 以发现的速度进行，支持精准医学研究作为学习的一部分医疗保健系统并加速科学和医学突破，改善人类健康。