心脏病专家对心脏遗传学检测和管理的看法

W.H. Wilson Tang MD , Quan M. Bui MD , Allison L. Cirino MS, CGC , Lisa Dellefave-Castillo MS, CGC , Brendan J. Floyd MD, PhD, MEd , Alejandra Guerchicoff PhD , Marianna Guerchicoff MD , Amit V. Khera MD, MSc , Joshua W. Knowles MD, PhD , Kristen Lafayette MPP , Andrew P. Landstrom MD, PhD , Daria W. Ma MS, LCGC, MSHS , Ana Morales MS, CGC , Kate M. Orland MS, CGC , Daniel E. Pineda-Alvarez MD , Siddharth K. Prakash MD, PhD , Paul Theriot BSBA , Melissa Dempsey MS, CGC
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引用次数: 0

摘要

背景:随着遗传学对心血管疾病的理解和管理的贡献越来越大,心脏遗传学检测已经变得具有临床意义。然而,心脏遗传学检测的使用仍然是可变的和未充分利用的。目的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,并确定相关的障碍、促进因素、教育需求和临床应用。方法: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。结果在受访者中,80%的人报告说他们直接为患者订购或协助转诊进行心脏遗传学检测。一般来说,我们测试组的心脏病专家有信心识别和推荐患者进行测试,但只有40%的人有信心安排测试,只有31%的人有信心解释结果。相当一部分应答者(40%)没有接受过任何心脏遗传学检测方面的培训。此外,76%从未要求检测的人没有接受过相关的心脏遗传学检测教育。大多数人(59%)有机会咨询遗传咨询师,尽管这对那些不太熟悉测试的人来说是有限的。常见的障碍包括认为心脏遗传学检测费用高(60%),获得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。来自专业协会的指南和资源是最重要的教育工具,而大多数心脏病专家(91%)表示对患者选择、检测程序和结果解释方面的进一步教育感兴趣。结论调查表明,改善遗传咨询师和专业人员的接触,更明确的指导方针,以及扩大教育可以促进心血管基因检测的采用和融入心血管护理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Cardiologists' Perceptions of Cardiogenetic Testing and Management

Background

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.

Objectives

The purpose of this study was to assess cardiologists' perceptions of cardiogenetic testing and identify relevant barriers, facilitators, educational needs, and clinical applications.

Methods

We surveyed 161 cardiologists using the American College of Cardiology CardioSurve Panel between March and April 2024.

Results

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.

Conclusions

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.
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JACC advances
JACC advances Cardiology and Cardiovascular Medicine
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1.90
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