Tang W H Wilson, Bui Quan M, Cirino Allison L, Dellefave-Castillo Lisa, Floyd Brendan J, Guerchicoff Alejandra, Guerchicoff Marianna, V Khera Amit, Knowles Joshua W, Lafayette Kristen, P Landstrom Andrew, Ma Daria W, Morales Ana, Orland Kate M, Pineda-Alvarez Daniel E, Prakash Siddharth K, Theriot Paul, Dempsey Melissa
Heart Vascular and Thoracic Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Divison of Cardiovascular Medicine, Department of Medicine, University of California San Diego, La Jolla, California, USA.
JACC Adv. 2025 Jul 3;4(8):101910. doi: 10.1016/j.jacadv.2025.101910.
Cardiogenetic testing has become clinically relevant as genetic insights increasingly contribute to the understanding and management of cardiovascular diseases of genetic origin. However, utilization of cardiogenetic testing remains variable and underutilized.
The purpose of this study was to assess cardiologists' perceptions of cardiogenetic testing and identify relevant barriers, facilitators, educational needs, and clinical applications.
We surveyed 161 cardiologists using the American College of Cardiology CardioSurve Panel between March and April 2024.
Among respondents, 80% reported that they have directly ordered or facilitated a referral for cardiogenetic testing for their patients. Generally, cardiologists from our testing group felt confident identifying and referring patients for testing, but only 40% confidently ordering tests and only 31% were confident interpreting results. A substantial portion of respondents (40%) had not received any training in cardiogenetic testing. Furthermore, 76% of those who had never ordered testing did not receive relevant education in cardiogenetic testing. The majority (59%) had access to genetic counselors though this was limited for those less familiar with testing. Common barriers included perceived high cardiogenetic testing costs (60%), limited access to genetic counselors (59%), and lack of confidence in interpreting results (43%). Respondents had substantial variability in perceived insurance coverage. Guidelines and resources from professional societies were top educational tools, whereas most cardiologists (91%) expressed interest in further education in patient selection, testing procedures, and results interpretation.
The survey suggest that improved access to genetic counselors and professionals, clearer guidelines, and expanded education could boost cardiogenetic testing adoption and integration into cardiovascular care.
随着遗传学见解越来越有助于理解和管理遗传性心血管疾病，心脏遗传学检测在临床上变得越来越重要。然而，心脏遗传学检测的应用仍然存在差异且未得到充分利用。
本研究的目的是评估心脏病专家对心脏遗传学检测的看法，并确定相关障碍、促进因素、教育需求和临床应用。
我们在 2024 年 3 月至 4 月期间使用美国心脏病学会心脏调查小组对 161 名心脏病专家进行了调查。
在受访者中，80% 报告称他们直接为患者订购或促成了心脏遗传学检测的转诊。总体而言，我们检测组的心脏病专家对识别和转诊患者进行检测感到有信心，但只有 40% 的人有信心订购检测，只有 31% 的人有信心解释结果。相当一部分受访者（40%）没有接受过心脏遗传学检测方面的任何培训。此外，76% 从未订购检测的人没有接受过心脏遗传学检测的相关教育。大多数人（59%）可以接触到遗传咨询师，不过对于那些不太熟悉检测的人来说，这种接触有限。常见障碍包括认为心脏遗传学检测成本高（60%）、接触遗传咨询师的机会有限（59%）以及对解释结果缺乏信心（43%）。受访者对保险覆盖范围的看法存在很大差异。专业协会的指南和资源是首要的教育工具，而大多数心脏病专家（91%）表示有兴趣接受关于患者选择、检测程序和结果解释的进一步教育。
调查表明，增加接触遗传咨询师和专业人员的机会、更明确的指南以及扩大教育可以促进心脏遗传学检测的采用并将其纳入心血管护理。
