Center for Genetic Medicine Feinberg School of Medicine Northwestern University Chicago IL.
Department of Communication Studies Northwestern University Chicago IL.
J Am Heart Assoc. 2022 Apr 5;11(7):e023763. doi: 10.1161/JAHA.121.023763. Epub 2022 Mar 24.
Background Educating cardiologists and health care professionals about cardiovascular genetics and genetic testing is essential to improving diagnosis and management of patients with inherited cardiomyopathies and arrhythmias and those at higher risk for sudden cardiac death. The aim of this study was to understand cardiology and electrophysiology practitioners' current practices, confidence, and knowledge surrounding genetic testing in cardiology and desired topics for an educational program. Methods and Results A one-time survey was administered through purposive email solicitation to 131 cardiology practitioners in the United States. Of these, 107 self-identified as nongenetic practitioners. Over three quarters of nongenetic practitioners reported that they refer patients to genetic providers to discuss cardiovascular genetic tests (n=82; 76.6%). More than half of nongenetic practitioners reported that they were not confident about the types of cardiovascular genetic testing available (n=60; 56%) and/or in ordering appropriate cardiovascular genetic tests (n=66; 62%). In addition, 45% (n=22) of nongenetic practitioners did not feel confident making cardiology treatment recommendations based on genetic test results. Among all providers, the most desired topics for an educational program were risk assessment (94%) and management of inherited cardiac conditions based on guidelines (91%). Conclusions This study emphasizes the importance of access to genetics services in the cardiology field and the need for addressing the identified deficit in confidence and knowledge about cardiogenetics and genetic testing among nongenetic providers. Additional research is needed, including more practitioners from underserved areas.
对心脏病学家和医疗保健专业人员进行心血管遗传学和基因检测方面的教育对于改善遗传性心肌病和心律失常患者以及发生心源性猝死风险较高的患者的诊断和管理至关重要。本研究旨在了解心脏病学和电生理学从业者在心脏病学基因检测方面的当前实践、信心和知识水平,以及他们对教育计划的期望主题。
通过有针对性的电子邮件邀请,向美国的 131 名心脏病学从业者一次性进行了调查。其中 107 名自认为是非遗传从业者。超过四分之三的非遗传从业者报告说他们会将患者转介给遗传提供者以讨论心血管基因检测(n=82;76.6%)。超过一半的非遗传从业者报告说他们对可用的心血管基因检测类型(n=60;56%)和/或适当的心血管基因检测的订单(n=66;62%)缺乏信心。此外,45%(n=22)的非遗传从业者表示,他们在根据基因检测结果做出心脏病治疗建议时没有信心。在所有提供者中,教育计划最受欢迎的主题是风险评估(94%)和根据指南管理遗传性心脏疾病(91%)。
本研究强调了在心脏病学领域获得遗传服务的重要性,以及解决非遗传提供者在心脏病学和基因检测方面信心和知识不足的必要性。需要进行更多的研究,包括来自服务不足地区的更多从业者。