Australian Institute of Health Innovation, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia; Australian Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Australian Institute of Health Innovation, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia.
Genet Med. 2023 Feb;25(2):100109. doi: 10.1016/j.gim.2022.01.004. Epub 2022 Jan 31.
Clinical genomics demands close interaction of physicians, laboratory scientists, and genetic professionals. Taking genomics to scale requires an understanding of the underlying processes from the perspective of nongenetic physicians who are new to the field. We identified components of the processes amenable to adaptation when scaling up clinical genomics.
Semistructured interviews informed by the Theoretical Domains Framework with nongenetic physicians, who were using clinical genomics in practice, were guided by an annotated process map with 7 steps following the patient's journey. Findings from the individual maps were synthesized into an overview process map and a series of individual maps by common location and specialty. Interviews were analyzed using the Theoretical Domains Framework.
In total, 16 nongenetic physicians (eg, nephrologists, immunologists) participated, generating 1 overview and 10 individual process maps. Sixteen common steps were identified across clinical specialties and locations, with variations over 9 steps. We report the potential for standardization across these 9 steps.
When scaling up complex interventions, it is essential to identify steps where variation can be accommodated. With these results we show how process mapping can be used to identify steps where variation is acceptable during scale up to accommodate adaptation to local context, allowing for the inevitable evolution of factors influencing ongoing implementation and sustainability.
临床基因组学要求医生、实验室科学家和遗传专业人员密切合作。要实现基因组学的规模化，需要从对该领域不熟悉的非遗传医生的角度来理解潜在的过程。我们确定了在临床基因组学规模化过程中可以适应的过程组件。
通过理论领域框架对正在实践中使用临床基因组学的非遗传医生进行半结构化访谈，访谈以一个有 7 个步骤的注释过程图为指导，这些步骤跟随患者的就诊过程。从个人地图中得出的发现被综合成一个概述过程图和一系列按常见位置和专业划分的个人地图。使用理论领域框架对访谈进行分析。
共有 16 名非遗传医生（如肾病学家、免疫学家）参与，生成了 1 个概述和 10 个个人过程图。在临床专业和地点之间确定了 16 个共同的步骤，其中 9 个步骤存在差异。我们报告了在这 9 个步骤中实现标准化的潜力。
在规模化复杂干预措施时，必须确定可以适应变化的步骤。通过这些结果，我们展示了过程映射如何用于识别在规模化过程中可以接受变化的步骤，以适应对当地环境的适应，从而允许影响持续实施和可持续性的因素的必然演变。
