Hundal Kerstin, Scherr Courtney L, Fakhari Hoda, Ramesh Sanjana, Dellefave-Castillo Lisa, Duquette Deb, Cherny Sara, McNally Elizabeth M, Webster Gregory, Rasmussen-Torvik Laura J
Department of Communication Studies, Northwestern University, Evanston, IL, United States.
Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, United States.
Front Genet. 2025 Jan 7;15:1476466. doi: 10.3389/fgene.2024.1476466. eCollection 2024.
Clinical genetic testing is increasingly integrated in managing and diagnosing cardiac conditions and disease. It is important to identify ongoing challenges. This study aimed to better understand how genetic testing is integrated into pediatric cardiac care and identify barriers and opportunities for improvement.
We conducted qualitative interviews with pediatric cardiology clinicians (N = 12). Following a journey mapping approach to data analysis, we described genetic testing workflow phases, participants' thoughts and behaviors within each phase, and barriers and opportunities for improvement.
Participants described several challenges across the genetic testing workflow, from identifying patients for testing to disclosing results to the patients. Testing logistics, decision-making, and collaboration emerged as the most prominent challenges. Variation remains in the utilization of genetic testing, partially driven by case complexity and type of testing and attributable to other factors, like the level of interaction with genetics experts and inconsistent processes within the electronic medical record.
Clinical genetic pediatric cardiology requires more systematic integration of genetic testing and transparent processes. Major opportunities include the interplay between clinicians, genetic experts, and the EMR. Incorporating process mapping results into clinical logistics may eradicate some barriers experienced by pediatric cardiologists and increase clinical efficiency.
临床基因检测在心脏病的管理和诊断中应用越来越广泛。识别当前面临的挑战很重要。本研究旨在更好地了解基因检测如何融入儿科心脏护理，并确定改进的障碍和机会。
我们对儿科心脏病临床医生（N = 12）进行了定性访谈。采用旅程映射方法进行数据分析，我们描述了基因检测工作流程阶段、每个阶段参与者的想法和行为，以及改进的障碍和机会。
参与者描述了基因检测工作流程中的几个挑战，从确定检测患者到向患者披露结果。检测后勤、决策和协作成为最突出的挑战。基因检测的使用仍存在差异，部分原因是病例复杂性和检测类型，也归因于其他因素，如与遗传学专家的互动程度以及电子病历内流程不一致。
临床基因儿科心脏病学需要基因检测更系统的整合和透明的流程。主要机会包括临床医生、遗传学专家和电子病历之间的相互作用。将流程映射结果纳入临床后勤可能消除儿科心脏病学家遇到的一些障碍并提高临床效率。
