Cheng Lin, Kugenthiran Nathasha, Quinlan Catherine, Stark Zornitza, Jayasinghe Kushani, Best Stephanie
Melbourne School of Health Sciences, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville, VIC, Australia.
Kidney Regeneration, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Eur J Hum Genet. 2025 Mar;33(3):351-359. doi: 10.1038/s41431-025-01797-x. Epub 2025 Feb 12.
To identify and develop complementary implementation strategies that support nephrologists in mainstreaming renal genomic testing. Interviews were conducted with individuals nominated as 'genomics champions' and 'embedded genomics experts' as part of a mainstreaming project to identify initial barriers and investigate empirical strategies for delivering the project at initial stage. Data were mapped onto implementation science framework to identify complementary theoretical strategies. Interviews with 14 genomics champions and embedded genomics experts (genetic counsellors, nephrologists, renal nurses), identified 34 barriers to incorporating genomic testing into routine care, e.g., lack of long-term multidisciplinary team support and role clarity. In total, 25 empirical implementation strategies were identified such as creating new clinical teams. Using the Consolidated Framework for Implementation Research, 10 complementary theoretical implementation strategies were identified. Our study presents a novel approach complementing empirical strategies with theoretical strategies to support nephrologists in incorporating genomic testing into routine practice. Complementary strategies can potentially address barriers and inform future studies when mainstreaming renal genomics. This process underscored the need for integrating collaborative efforts among health professionals, patients, implementation scientists and the health system to overcome identified challenges to mainstream genomic testing. Future research should explore the applicability of these strategies to support mainstreaming genomic testing in different clinical settings.
为识别和制定辅助实施策略，以支持肾病学家将肾脏基因组检测纳入主流医疗实践。作为一项主流化项目的一部分，对被提名为“基因组学倡导者”和“嵌入式基因组学专家”的个人进行了访谈，以识别初期障碍并研究在项目初始阶段实施该项目的经验性策略。将数据映射到实施科学框架上，以识别辅助性理论策略。对14名基因组学倡导者和嵌入式基因组学专家（遗传咨询师、肾病学家、肾脏科护士）的访谈，确定了将基因组检测纳入常规护理的34个障碍，例如缺乏长期多学科团队支持和角色不明确。总共确定了25种经验性实施策略，如创建新的临床团队。利用实施研究综合框架，确定了10种辅助性理论实施策略。我们的研究提出了一种将经验性策略与理论策略相结合的新方法，以支持肾病学家将基因组检测纳入常规实践。辅助性策略可能会解决障碍，并为肾脏基因组学主流化的未来研究提供信息。这一过程强调了整合卫生专业人员、患者、实施科学家和卫生系统之间的协作努力以克服已识别的基因组检测主流化挑战的必要性。未来的研究应探索这些策略在不同临床环境中支持基因组检测主流化的适用性。
