O'Shea Rosie, Crook Ashley, Jacobs Chris, Kentwell Maira, Gleeson Margaret, Tucker Katherine M, Hampel Heather, Rahm Alanna Kulchak, Taylor Natalie, Lewis Sarah, Rankin Nicole M
Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Discipline of Genetic Counselling, Graduate School of Health, University of Technology Sydney, Sydney, NSW, Australia.
Front Oncol. 2023 May 26;13:1140135. doi: 10.3389/fonc.2023.1140135. eCollection 2023.
INTRODUCTION: "Mainstreaming" is a proposed strategy to integrate genomic testing into oncology. The aim of this paper is to develop a mainstreaming oncogenomics model by identifying health system interventions and implementation strategies for mainstreaming Lynch syndrome genomic testing. METHODS: A rigorous theoretical approach inclusive of conducting a systematic review and qualitative and quantitative studies was undertaken using the Consolidated Framework for Implementation Research. Theory-informed implementation data were mapped to the Genomic Medicine Integrative Research framework to generate potential strategies. RESULTS: The systematic review identified a lack of theory-guided health system interventions and evaluation for Lynch syndrome and other mainstreaming programs. The qualitative study phase included 22 participants from 12 health organizations. The quantitative Lynch syndrome survey included 198 responses: 26% and 66% from genetic and oncology health professionals, respectively. Studies identified the relative advantage and clinical utility of mainstreaming to improve genetic test access and to streamline care, and adaptation of current processes was recognized for results delivery and follow-up. Barriers identified included funding, infrastructure and resources, and the need for process and role delineation. The interventions to overcome barriers were as follows: embedded mainstream genetic counselors, electronic medical record genetic test ordering, results tracking, and mainstreaming education resources. Implementation evidence was connected through the Genomic Medicine Integrative Research framework resulting in a mainstreaming oncogenomics model. DISCUSSION: The proposed mainstreaming oncogenomics model acts as a complex intervention. It features an adaptable suite of implementation strategies to inform Lynch syndrome and other hereditary cancer service delivery. Implementation and evaluation of the model are required in future research.
引言:“主流化”是一种将基因检测整合到肿瘤学中的提议策略。本文的目的是通过确定卫生系统干预措施和实施策略,以实现林奇综合征基因检测的主流化,从而开发一种主流化肿瘤基因组学模型。 方法:采用实施研究综合框架,进行了包括系统评价以及定性和定量研究在内的严格理论方法。将基于理论的实施数据映射到基因组医学综合研究框架,以生成潜在策略。 结果:系统评价发现,林奇综合征和其他主流化项目缺乏理论指导的卫生系统干预措施和评估。定性研究阶段包括来自12个卫生组织的22名参与者。林奇综合征定量调查共收到198份回复:分别来自基因健康专业人员和肿瘤健康专业人员的回复占26%和66%。研究确定了主流化在改善基因检测可及性和简化护理方面的相对优势和临床效用,并且认识到需要调整当前流程以进行结果传递和随访。确定的障碍包括资金、基础设施和资源,以及对流程和角色界定的需求。克服障碍的干预措施如下:配备专职主流基因咨询师、通过电子病历进行基因检测预约、结果跟踪以及主流化教育资源。通过基因组医学综合研究框架将实施证据联系起来,从而形成了一个主流化肿瘤基因组学模型。 讨论:提议的主流化肿瘤基因组学模型是一种复杂的干预措施。它具有一套可适应的实施策略,为林奇综合征和其他遗传性癌症服务提供指导。未来的研究需要对该模型进行实施和评估。
Front Oncol. 2023-5-26
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