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采用多阶段方法来识别和解决实施全人群基因组筛查项目的促进因素和障碍。

Use of a multi-phased approach to identify and address facilitators and barriers to the implementation of a population-wide genomic screening program.

作者信息

Allen Caitlin G, Sterba Katherine, Norman Samantha, Jackson Amy, Hunt Kelly J, McMahon Lori, Judge Daniel P

机构信息

Department of Public Health Science, College of Medicine, Medical University of South Carolina, Charleston, SC, USA.

In Our DNA SC, Medical University of South Carolina, Charleston, SC, USA.

出版信息

Implement Sci Commun. 2023 Oct 11;4(1):122. doi: 10.1186/s43058-023-00500-9.

Abstract

INTRODUCTION

Population-wide genomic screening for CDC Tier-1 conditions offers the ability to identify the 1-2% of the US population at increased risk for Hereditary Breast and Ovarian Cancer, Lynch Syndrome, and Familial Hypercholesterolemia. Implementation of population-wide screening programs is highly complex, requiring engagement of diverse collaborators and implementation teams. Implementation science offers tools to promote integration of these programs through the identification of determinants of success and strategies to address potential barriers.

METHODS

Prior to launching the program, we conducted a pre-implementation survey to assess anticipated barriers and facilitators to reach, effectiveness, adoption, implementation, and maintenance (RE-AIM), among 51 work group members (phase 1). During the first year of program implementation, we completed coding of 40 work group meetings guided by the Consolidated Framework for Implementation Research (CFIR) (phase 2). We matched the top barriers to implementation strategies identified during phase 2 using the CFIR-ERIC (Expert Recommendation for Implementing Change) matching tool.

RESULTS

Staffing and workload concerns were listed as the top barrier in the pre-implementation phase of the program. Top barriers during implementation included adaptability (n = 8, 20%), complexity (n = 14, 35%), patient needs and resources (n = 9, 22.5%), compatibility (n = 11, 27.5%), and self-efficacy (n = 9, 22.5%). We identified 16 potential implementation strategies across six ERIC clusters to address these barriers and operationalized these strategies for our specific setting and program needs.

CONCLUSION

Our findings provide an example of successful use of the CFIR-ERIC tool to guide implementation of a population-wide genomic screening program.

摘要

引言

针对美国疾病控制与预防中心(CDC)一级疾病进行全人群基因组筛查,能够识别出1%-2%患遗传性乳腺癌和卵巢癌、林奇综合征以及家族性高胆固醇血症风险增加的美国人群。实施全人群筛查项目极为复杂,需要不同的合作者和实施团队参与其中。实施科学提供了工具,通过确定成功的决定因素和应对潜在障碍的策略,来促进这些项目的整合。

方法

在启动该项目之前,我们对51名工作组成员进行了实施前调查,以评估在覆盖范围、有效性、采用率、实施和维持(RE-AIM)方面预期的障碍和促进因素(第一阶段)。在项目实施的第一年,我们在实施研究综合框架(CFIR)的指导下,对40次工作组会议进行了编码(第二阶段)。我们使用CFIR-ERIC(实施变革专家建议)匹配工具,将第二阶段确定的主要障碍与实施策略进行匹配。

结果

人员配备和工作量问题在项目实施前阶段被列为首要障碍。实施过程中的主要障碍包括适应性(n = 8,20%)、复杂性(n = 14,35%)、患者需求和资源(n = 9,22.5%)、兼容性(n = 11,27.5%)和自我效能感(n = 9,22.5%)。我们在六个ERIC集群中确定了16种潜在的实施策略,以解决这些障碍,并根据我们的特定环境和项目需求将这些策略付诸实施。

结论

我们的研究结果提供了一个成功使用CFIR-ERIC工具指导全人群基因组筛查项目实施的范例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dcb3/10566189/d432fae8006f/43058_2023_500_Fig1_HTML.jpg

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