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...

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Main 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
Format: Article
Language:English
Published: Elsevier 2025-08-01
Series:JACC: Advances
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Online Access:http://www.sciencedirect.com/science/article/pii/S2772963X25003308
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author 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
author_facet 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
author_sort W.H. Wilson Tang, MD
collection DOAJ
description 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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spelling doaj-art-a51b76d32dac4a29bfe8a264e3d9463f2025-08-20T03:15:39ZengElsevierJACC: Advances2772-963X2025-08-014810191010.1016/j.jacadv.2025.101910Cardiologists' Perceptions of Cardiogenetic Testing and ManagementW.H. Wilson Tang, MD0Quan M. Bui, MD1Allison L. Cirino, MS, CGC2Lisa Dellefave-Castillo, MS, CGC3Brendan J. Floyd, MD, PhD, MEd4Alejandra Guerchicoff, PhD5Marianna Guerchicoff, MD6Amit V. Khera, MD, MSc7Joshua W. Knowles, MD, PhD8Kristen Lafayette, MPP9Andrew P. Landstrom, MD, PhD10Daria W. Ma, MS, LCGC, MSHS11Ana Morales, MS, CGC12Kate M. Orland, MS, CGC13Daniel E. Pineda-Alvarez, MD14Siddharth K. Prakash, MD, PhD15Paul Theriot, BSBA16Melissa Dempsey, MS, CGC17Heart Vascular and Thoracic Institute, Cleveland Clinic, Cleveland, Ohio, USA; Address for correspondence: Dr W.H.Wilson Tang, Kaufman Center for Heart Failure Treatment and Recovery, Department of Cardiovascular Medicine, Heart Vascular and Thoracic Institute, Cleveland Clinic, 9500 Euclid Avenue, Desk J3-4, Cleveland, Ohio 44195, USA.Divison of Cardiovascular Medicine, Department of Medicine, University of California San Diego, La Jolla, California, USAInstitute of Health Professions, Massachusetts General Hospital, Boston, Massachusetts, USACenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Evanston, Illinois, USADivision of Cardiology, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USATata Consultancy Services, New York, New York, USADivision of Pediatric Arrhythmia and Electrophysiology, Italian Hospital of Buenos Aires, Buenos Aires, ArgentinaDepartment of Medicine, Harvard Medical School, Boston, Massachusetts, USA; Verve Therapeutics, Boston, Massachusetts, USA; Division of Cardiovascular Medicine, Department of Medicine, Brigham & Women's Hospital, Boston, Massachusetts, USADivision of Cardiovascular Medicine, Department of Medicine, Cardiovascular Institute and Prevention Research Center, Stanford University School of Medicine, Stanford, California, USACardioGenomic Testing Alliance, Washington, District of Columbia, USADivision of Pediatric Cardiology, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USASmidt Heart Institute, Cedar Sinai Medical Center, Los Angeles, California, USADepartment of Genomic Health, Geisinger, Danville, Pennsylvania, USADivision of Cardiovascular Medicine, Department of Medicine, University of Wisconsin-Madison, Madison, Wisconsin, USALabcorp Genetics Inc, San Francisco, California, USADepartment of Internal Medicine, The University of Texas Health Science Center at Houston, Houston, Texas, USAAmerican College of Cardiology, Washington, District of Columbia, USAIllumina Inc, San Diego, California, USABackground: 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.http://www.sciencedirect.com/science/article/pii/S2772963X25003308cardiogenetic testingcardiovascular geneticscompetencygenetic counselingimplementation
spellingShingle 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
Cardiologists' Perceptions of Cardiogenetic Testing and Management
JACC: Advances
cardiogenetic testing
cardiovascular genetics
competency
genetic counseling
implementation
title Cardiologists' Perceptions of Cardiogenetic Testing and Management
title_full Cardiologists' Perceptions of Cardiogenetic Testing and Management
title_fullStr Cardiologists' Perceptions of Cardiogenetic Testing and Management
title_full_unstemmed Cardiologists' Perceptions of Cardiogenetic Testing and Management
title_short Cardiologists' Perceptions of Cardiogenetic Testing and Management
title_sort cardiologists perceptions of cardiogenetic testing and management
topic cardiogenetic testing
cardiovascular genetics
competency
genetic counseling
implementation
url http://www.sciencedirect.com/science/article/pii/S2772963X25003308
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