Mapping the use of cardiovascular genetic services in pediatric clinical care: challenges and opportunities for improvement.

IF 2.8 3区 生物学 Q2 GENETICS & HEREDITY
Frontiers in Genetics Pub Date : 2025-01-07 eCollection Date: 2024-01-01 DOI:10.3389/fgene.2024.1476466
Kerstin Hundal, Courtney L Scherr, Hoda Fakhari, Sanjana Ramesh, Lisa Dellefave-Castillo, Deb Duquette, Sara Cherny, Elizabeth M McNally, Gregory Webster, Laura J Rasmussen-Torvik
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引用次数: 0

Abstract

Purpose: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

测绘心血管遗传服务在儿科临床护理中的应用:改进的挑战和机遇。
目的:临床基因检测越来越多地集成到管理和诊断心脏状况和疾病。重要的是要确定正在面临的挑战。本研究旨在更好地了解基因检测如何整合到儿科心脏护理中,并确定改进的障碍和机会。方法:我们对儿科心脏病临床医生(N = 12)进行定性访谈。根据数据分析的旅程映射方法,我们描述了基因测试工作流程阶段,参与者在每个阶段的想法和行为,以及改进的障碍和机会。结果: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。测试、物流、决策和协作成为最突出的挑战。基因检测的利用仍然存在差异,部分原因是病例的复杂性和检测类型,以及其他因素,如与遗传学专家的互动程度和电子病历中不一致的流程。结论:小儿心脏病临床遗传学需要更加系统的基因检测整合和透明的过程。主要的机会包括临床医生、基因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物流可能会消除儿科心脏病专家遇到的一些障碍,并提高临床效率。
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来源期刊
Frontiers in Genetics
Frontiers in Genetics Biochemistry, Genetics and Molecular Biology-Molecular Medicine
CiteScore
5.50
自引率
8.10%
发文量
3491
审稿时长
14 weeks
期刊介绍: Frontiers in Genetics publishes rigorously peer-reviewed research on genes and genomes relating to all the domains of life, from humans to plants to livestock and other model organisms. Led by an outstanding Editorial Board of the world’s leading experts, this multidisciplinary, open-access journal is at the forefront of communicating cutting-edge research to researchers, academics, clinicians, policy makers and the public. The study of inheritance and the impact of the genome on various biological processes is well documented. However, the majority of discoveries are still to come. A new era is seeing major developments in the function and variability of the genome, the use of genetic and genomic tools and the analysis of the genetic basis of various biological phenomena.
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