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在不同环境中实施基因组服务的挑战与策略:来自“实践中实施基因组学(IGNITE)”网络的经验

Challenges and strategies for implementing genomic services in diverse settings: experiences from the Implementing GeNomics In pracTicE (IGNITE) network.

作者信息

Sperber Nina R, Carpenter Janet S, Cavallari Larisa H, J Damschroder Laura, Cooper-DeHoff Rhonda M, Denny Joshua C, Ginsburg Geoffrey S, Guan Yue, Horowitz Carol R, Levy Kenneth D, Levy Mia A, Madden Ebony B, Matheny Michael E, Pollin Toni I, Pratt Victoria M, Rosenman Marc, Voils Corrine I, W Weitzel Kristen, Wilke Russell A, Ryanne Wu R, Orlando Lori A

机构信息

Division of General Internal Medicine, Duke University School of Medicine, Durham, NC, USA.

Duke Center for Applied Genomics & Precision Medicine, Duke University, Durham, NC, USA.

出版信息

BMC Med Genomics. 2017 May 22;10(1):35. doi: 10.1186/s12920-017-0273-2.

Abstract

BACKGROUND

To realize potential public health benefits from genetic and genomic innovations, understanding how best to implement the innovations into clinical care is important. The objective of this study was to synthesize data on challenges identified by six diverse projects that are part of a National Human Genome Research Institute (NHGRI)-funded network focused on implementing genomics into practice and strategies to overcome these challenges.

METHODS

We used a multiple-case study approach with each project considered as a case and qualitative methods to elicit and describe themes related to implementation challenges and strategies. We describe challenges and strategies in an implementation framework and typology to enable consistent definitions and cross-case comparisons. Strategies were linked to challenges based on expert review and shared themes.

RESULTS

Three challenges were identified by all six projects, and strategies to address these challenges varied across the projects. One common challenge was to increase the relative priority of integrating genomics within the health system electronic health record (EHR). Four projects used data warehousing techniques to accomplish the integration. The second common challenge was to strengthen clinicians' knowledge and beliefs about genomic medicine. To overcome this challenge, all projects developed educational materials and conducted meetings and outreach focused on genomic education for clinicians. The third challenge was engaging patients in the genomic medicine projects. Strategies to overcome this challenge included use of mass media to spread the word, actively involving patients in implementation (e.g., a patient advisory board), and preparing patients to be active participants in their healthcare decisions.

CONCLUSIONS

This is the first collaborative evaluation focusing on the description of genomic medicine innovations implemented in multiple real-world clinical settings. Findings suggest that strategies to facilitate integration of genomic data within existing EHRs and educate stakeholders about the value of genomic services are considered important for effective implementation. Future work could build on these findings to evaluate which strategies are optimal under what conditions. This information will be useful for guiding translation of discoveries to clinical care, which, in turn, can provide data to inform continual improvement of genomic innovations and their applications.

摘要

背景

为了从基因和基因组创新中实现潜在的公共卫生效益,了解如何最好地将这些创新应用于临床护理非常重要。本研究的目的是综合六个不同项目所确定的挑战数据,这些项目是由美国国家人类基因组研究所(NHGRI)资助的网络的一部分,该网络专注于将基因组学应用于实践以及克服这些挑战的策略。

方法

我们采用多案例研究方法,将每个项目视为一个案例,并使用定性方法来引出和描述与实施挑战及策略相关的主题。我们在一个实施框架和类型学中描述挑战和策略,以实现一致的定义和跨案例比较。基于专家评审和共同主题,将策略与挑战联系起来。

结果

所有六个项目都确定了三个挑战,应对这些挑战的策略在各项目中各不相同。一个共同的挑战是提高在卫生系统电子健康记录(EHR)中整合基因组学的相对优先级。四个项目使用数据仓库技术来完成整合。第二个共同挑战是加强临床医生对基因组医学的知识和信念。为克服这一挑战,所有项目都开发了教育材料,并针对临床医生开展了专注于基因组学教育的会议和宣传活动。第三个挑战是让患者参与基因组医学项目。克服这一挑战的策略包括利用大众媒体进行宣传、让患者积极参与实施(例如设立患者咨询委员会)以及使患者做好在医疗保健决策中积极参与的准备。

结论

这是首次聚焦于描述在多个实际临床环境中实施的基因组医学创新的合作评估。研究结果表明,促进基因组数据整合到现有电子健康记录中以及让利益相关者了解基因组服务价值的策略对于有效实施至关重要。未来的工作可以基于这些发现来评估哪些策略在何种条件下是最优的。这些信息将有助于指导将研究成果转化为临床护理,进而能够提供数据以促进基因组创新及其应用的持续改进。

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