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
{"title":"心脏病专家对心脏遗传学检测和管理的看法","authors":"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","doi":"10.1016/j.jacadv.2025.101910","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div>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.</div></div><div><h3>Objectives</h3><div>The purpose of this study was to assess cardiologists' perceptions of cardiogenetic testing and identify relevant barriers, facilitators, educational needs, and clinical applications.</div></div><div><h3>Methods</h3><div>We surveyed 161 cardiologists using the American College of Cardiology CardioSurve Panel between March and April 2024.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusions</h3><div>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.</div></div>","PeriodicalId":73527,"journal":{"name":"JACC advances","volume":"4 8","pages":"Article 101910"},"PeriodicalIF":0.0000,"publicationDate":"2025-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Cardiologists' Perceptions of Cardiogenetic Testing and Management\",\"authors\":\"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\",\"doi\":\"10.1016/j.jacadv.2025.101910\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><div>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.</div></div><div><h3>Objectives</h3><div>The purpose of this study was to assess cardiologists' perceptions of cardiogenetic testing and identify relevant barriers, facilitators, educational needs, and clinical applications.</div></div><div><h3>Methods</h3><div>We surveyed 161 cardiologists using the American College of Cardiology CardioSurve Panel between March and April 2024.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusions</h3><div>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.</div></div>\",\"PeriodicalId\":73527,\"journal\":{\"name\":\"JACC advances\",\"volume\":\"4 8\",\"pages\":\"Article 101910\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-07-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"JACC advances\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2772963X25003308\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"JACC advances","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2772963X25003308","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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.