Faculty of Health, Deakin University, Melbourne, Victoria, Australia.
Australian Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Genet Med. 2022 Jul;24(7):1415-1424. doi: 10.1016/j.gim.2022.03.017. Epub 2022 Apr 20.
This study aimed to assess the extent to which structured approaches to implementation of clinical genomics, proposed or adapted, are informed by evidence.
A systematic approach was used to identify peer-reviewed articles and gray literature to report on 4 research questions: 1. What structured approaches have been proposed to support implementation? 2. To what extent are the structured approaches informed by evidence? 3. How have structured approaches been deployed in the genomic setting? 4. What are the intended outcomes of the structured approaches?
A total of 30 unique structured approaches to implementation were reported across 23 peer-reviewed publications and 11 gray literature articles. Most approaches were process models, applied in the preadoption implementation phase, focusing on a "service" outcome. Key findings included a lack of implementation science theory informing the development/implementation of newly designed structured approaches in the genomic setting and a lack of measures to assess implementation effectiveness.
This scoping review identified a significant number of structured approaches developed to inform the implementation of genomic medicine into clinical practice, with limited use of implementation science to support the process. We recommend the use of existing implementation science theory and the expertise of implementation scientists to inform the design of genomic programs being implemented into clinical care.
本研究旨在评估已提出或改编的临床基因组学实施结构化方法在多大程度上基于证据。
采用系统方法，确定同行评议的文章和灰色文献，以回答 4 个研究问题：1. 提出了哪些结构化方法来支持实施？2. 结构化方法在多大程度上基于证据？3. 结构化方法在基因组学环境中如何部署？4. 结构化方法的预期结果是什么？
共报道了 30 种独特的结构化实施方法，涉及 23 篇同行评议出版物和 11 篇灰色文献文章。大多数方法都是过程模型，应用于采用前实施阶段，侧重于“服务”结果。主要发现包括缺乏实施科学理论来指导新设计的结构化方法在基因组学环境中的开发/实施，以及缺乏评估实施效果的措施。
本范围综述确定了大量为将基因组医学纳入临床实践而开发的结构化方法，在支持该过程方面很少使用实施科学。我们建议使用现有的实施科学理论和实施科学家的专业知识来为正在实施到临床护理中的基因组计划的设计提供信息。
