调查澳大利亚临床基因组学的采用情况。一项实施科学案例研究。

Investigating the Adoption of Clinical Genomics in Australia. An Implementation Science Case Study.

机构信息

Australian Institute of Health Innovation, Macquarie University, Sydney, NSW 2113, Australia.

Australian Genomics Health Alliance, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia.

出版信息

Genes (Basel). 2021 Feb 23;12(2):317. doi: 10.3390/genes12020317.

Abstract

Despite the overwhelming interest in clinical genomics, uptake has been slow. Implementation science offers a systematic approach to reveal pathways to adoption and a theory informed approach to addressing barriers presented. Using case study methodology, we undertook 16 in-depth interviews with nongenetic medical specialists to identify barriers and enablers to the uptake of clinical genomics. Data collection and analysis was guided by two evidence-based behaviour change models: the Theoretical Domains Framework (TDF), and the Capability, Opportunity Motivation Behaviour model (COM-B). Our findings revealed the use of implementation science not only provided a theoretical structure to frame the study but also facilitated uncovering of traditionally difficult to access responses from participants, e.g., "safety in feeling vulnerable" (TDF code /COM-B code ). The most challenging phase for participants was ensuring appropriate patients were offered genomic testing. There were several consistent TDF codes: , and and COM-B codes and , with others varying along the patient journey. We conclude that implementation science methods can maximise the value created by the exploration of factors affecting the uptake of clinical genomics to ensure future interventions are designed to meet the needs of novice nongenetic medical specialists.

摘要

尽管人们对临床基因组学有着浓厚的兴趣,但采用速度一直很慢。实施科学提供了一种系统的方法来揭示采用的途径,并提供了一种基于理论的方法来解决所呈现的障碍。我们采用案例研究方法,对 16 名非遗传医学专家进行了深入访谈,以确定采用临床基因组学的障碍和促进因素。数据收集和分析的指导原则是两个基于证据的行为改变模型:理论领域框架(TDF)和能力、机会、动机-行为模型(COM-B)。我们的研究结果表明,实施科学的使用不仅为研究提供了一个理论框架,还便于揭示参与者通常难以获得的响应,例如“感到脆弱时的安全感”(TDF 代码/COM-B 代码)。参与者最具挑战性的阶段是确保向适当的患者提供基因组检测。有几个一致的 TDF 代码:、和、以及 COM-B 代码、和、其他代码则沿着患者的治疗路径而变化。我们得出结论,实施科学方法可以最大限度地发挥探索影响临床基因组学采用因素的价值,以确保未来的干预措施能够满足非遗传医学新手专家的需求。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a68/7926693/3567c5e08dcf/genes-12-00317-g001.jpg

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