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基因组医学综合研究框架:开展基因组医学研究的概念框架

The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.

机构信息

Center for Health Equity and Community Engaged Research, Icahn School of Medicine, New York, NY 10029, USA; Department of Population Health Science and Policy, Icahn School of Medicine, New York, NY 10029, USA.

Duke Center for Applied Genomics and Precision Medicine, Durham, NC 27708, USA.

出版信息

Am J Hum Genet. 2019 Jun 6;104(6):1088-1096. doi: 10.1016/j.ajhg.2019.04.006. Epub 2019 May 16.

Abstract

Conceptual frameworks are useful in research because they can highlight priority research domains, inform decisions about interventions, identify outcomes and factors to measure, and display how factors might relate to each other to generate and test hypotheses. Discovery, translational, and implementation research are all critical to the overall mission of genomic medicine and prevention, but they have yet to be organized into a unified conceptual framework. To fill this gap, our diverse team collaborated to develop the Genomic Medicine Integrative Research (GMIR) Framework, a simple but comprehensive tool to aid the genomics community in developing research questions, strategies, and measures and in integrating genomic medicine and prevention into clinical practice. Here we present the GMIR Framework and its development, along with examples of its use for research development, demonstrating how we applied it to select and harmonize measures for use across diverse genomic medicine implementation projects. Researchers can utilize the GMIR Framework for their own research, collaborative investigations, and clinical implementation efforts; clinicians can use it to establish and evaluate programs; and all stakeholders can use it to help allocate resources and make sure that the full complexity of etiology is included in research and program design, development, and evaluation.

摘要

概念框架在研究中很有用,因为它们可以突出优先研究领域,为干预措施提供决策依据,确定要测量的结果和因素,并展示因素之间的关系,以生成和检验假设。发现、转化和实施研究对于基因组医学和预防的总体使命都至关重要,但它们尚未被组织成一个统一的概念框架。为了填补这一空白,我们的多元化团队合作开发了基因组医学综合研究(GMIR)框架,这是一个简单但全面的工具,可帮助基因组学界提出研究问题、策略和措施,并将基因组医学和预防纳入临床实践。在这里,我们介绍了 GMIR 框架及其开发情况,并提供了一些使用该框架来开发研究的示例,展示了我们如何应用它来选择和协调用于各种基因组医学实施项目的措施。研究人员可以将 GMIR 框架用于自己的研究、合作研究和临床实施工作;临床医生可以用它来建立和评估项目;所有利益相关者都可以用它来帮助分配资源,并确保研究和项目设计、开发和评估中包含病因的全部复杂性。

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