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AutGO 倡议:制定遗传学-结局研究假设的概念框架。

The AutGO Initiative: A Conceptual Framework for Developing Genetics-Outcomes Research Hypotheses.

机构信息

Children's Mercy Hospital, Kansas City, MO, USA.

University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.

出版信息

Autism Res. 2020 Aug;13(8):1286-1299. doi: 10.1002/aur.2331. Epub 2020 Jul 3.

Abstract

The increasing emphasis on translational approaches to complex neuropsychiatric and neurodevelopmental conditions research requires scientists from a broad range of disciplines to build dynamic collaborations when formulating hypotheses and framing study designs. The need to integrate the knowledge and perspectives not only from multiple scientific silos but also from the populations impacted by these conditions presents a significant challenge to researchers, particularly for a heterogeneous condition like autism. As one path toward addressing these challenges, we have previously introduced Autism Genetics Outcomes (AutGO), an initiative to support broad stakeholder partnerships and promote a new integrated concept called GO (i.e., research approaches that draw on both genetics and clinical outcomes perspectives). Herein, we developed a workflow for collecting stakeholders' feedback toward the development of a GO hypothesis. AutGO is an evolving initiative, and here we describe how its three essential components (conceptual framework, applicability, and implementation) have been developed. As a proof-of-concept, the AutGO team sought to demonstrate how a GO hypothesis could be developed using a semi-structured literature review workflow. We also developed a prototype from published reports and formulated a GO hypothesis for autism. Rather than seeking community stakeholder input after a research project is conceptualized and designed, the developed conceptual framework demonstrates the feasibility of formulating scientific hypotheses by engaging stakeholders in retrospective semi-structured literature reviews. The presented workflow, prototype, and discussed recommendations will bring awareness in the autism research community about the benefits of applying the GO approach in order to promote translational aspects in genetics research. LAY SUMMARY: We used a community-based engagement approach to develop AutGO (Autism Genetics Outcomes), an initiative to establish stakeholder partnerships and to promote research approaches (we refer to as GO) that draw on both genetics and clinical outcomes perspectives. Specifically, we developed a conceptual framework that includes a literature review process for developing GO hypotheses and stakeholder feedback collection protocol. Our work will bring awareness in the autism research community about the benefits of integrating patient perspectives in genetics research. Autism Res 2020, 13: 1286-1299. © 2020 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals LLC.

摘要

对复杂神经精神和神经发育状况的研究越来越强调转化方法,这要求来自广泛学科领域的科学家在提出假说和设计研究方案时建立动态合作关系。将知识和观点不仅整合来自多个科学领域,还要整合受这些状况影响的人群,这给研究人员带来了巨大的挑战,特别是对于自闭症这种异质的状况。作为应对这些挑战的一种途径,我们之前引入了自闭症遗传学研究成果(AutGO),这是一项支持广泛利益相关者合作的计划,并提出了一个新的综合概念,称为 GO(即,同时借鉴遗传学和临床结果观点的研究方法)。在这里,我们开发了一种用于收集利益相关者对 GO 假说制定的反馈的工作流程。AutGO 是一个不断发展的计划,在此我们描述了如何开发其三个基本组成部分(概念框架、适用性和实施)。作为概念验证,AutGO 团队试图展示如何使用半结构化文献综述工作流程来开发 GO 假说。我们还根据已发表的报告开发了一个原型,并为自闭症制定了一个 GO 假说。该开发的概念框架不是在研究项目构思和设计之后寻求社区利益相关者的投入,而是通过让利益相关者参与回顾性半结构化文献综述来制定科学假说,证明了这种方法的可行性。所提出的工作流程、原型和讨论建议将使自闭症研究界认识到应用 GO 方法的好处,以促进遗传学研究中的转化方面。

要点总结

我们使用基于社区的参与方法来开发 AutGO(自闭症遗传学研究成果),这是一项建立利益相关者合作关系并促进研究方法(我们称之为 GO)的计划,该方法同时借鉴遗传学和临床结果观点。具体来说,我们开发了一个包括用于制定 GO 假说和利益相关者反馈收集协议的文献综述过程的概念框架。我们的工作将使自闭症研究界认识到将患者观点纳入遗传学研究的好处。自闭症研究 2020, 13: 1286-1299. © 2020 作者。自闭症研究由国际自闭症研究协会出版,由 Wiley Periodicals LLC 出版。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cc04/7496490/791e74bebc86/AUR-13-1286-g001.jpg

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