Role of genetic testing in inherited cardiovascular disease: A review

Allison L. Cirino, Stephanie Harris, Neal K. Lakdawala, Michelle Michels, Iacopo Olivotto, Sharlene M. Day, Dominic J. Abrams, Philippe Charron, Colleen Caleshu, Christopher Semsarian, Jodie Ingles, Harry Rakowski, Daniel P. Judge, Carolyn Y. Ho

Research output: Contribution to journalReview article

Abstract

IMPORTANCE: Genetic testing is a valuable tool for managing inherited cardiovascular disease in patients and families, including hypertrophic, dilated, and arrhythmogenic cardiomyopathies and inherited arrhythmias. By identifying the molecular etiology of disease, genetic testing can improve diagnostic accuracy and refine family management. However, unique features associated with genetic testing affect the interpretation and application of results and differentiate it from traditional laboratory-based diagnostics. Clinicians and patients must have accurate and realistic expectations about the yield of genetic testing and its role in management. Familiarity with the rationale, implications, benefits, and limitations of genetic testing is essential to achieve the best possible outcomes. OBSERVATIONS: Successfully incorporating genetic testing into clinical practice requires (1) recognizing when inherited cardiovascular disease may be present, (2) identifying appropriate individuals in the family for testing, (3) selecting the appropriate genetic test, (4) understanding the complexities of result interpretation, and (5) effectively communicating the results and implications to the patient and family. Obtaining a detailed family history is critical to identify families who will benefit from genetic testing, determine the best strategy, and interpret results. Instead of focusing on an individual patient, genetic testing requires consideration of the family as a unit. Consolidation of care in centers with a high level of expertise is recommended. Clinicians without expertise in genetic testing will benefit from establishing referral or consultative networks with experienced clinicans in specialized multidisciplinary clinics. CONCLUSIONS AND RELEVANCE: Genetic testing provides a foundation for transitioning to more precise and individualized management. By distinguishing phenotypic subgroups, identifying disease mechanisms, and focusing family care, gene-based diagnosis can improve management. Successful integration of genetic testing into clinical practice requires understanding of the complexities of testing and effective communication of the implications to patients and families.

Original languageEnglish (US)
Pages (from-to)1153-1160
Number of pages8
JournalJAMA Cardiology
Volume2
Issue number10
DOIs
StatePublished - Oct 1 2017

Fingerprint

Genetic Testing
Cardiovascular Diseases
Dilated Cardiomyopathy
Cardiac Arrhythmias
Referral and Consultation
Communication

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Cirino, A. L., Harris, S., Lakdawala, N. K., Michels, M., Olivotto, I., Day, S. M., ... Ho, C. Y. (2017). Role of genetic testing in inherited cardiovascular disease: A review. JAMA Cardiology, 2(10), 1153-1160. https://doi.org/10.1001/jamacardio.2017.2352

Role of genetic testing in inherited cardiovascular disease : A review. / Cirino, Allison L.; Harris, Stephanie; Lakdawala, Neal K.; Michels, Michelle; Olivotto, Iacopo; Day, Sharlene M.; Abrams, Dominic J.; Charron, Philippe; Caleshu, Colleen; Semsarian, Christopher; Ingles, Jodie; Rakowski, Harry; Judge, Daniel P.; Ho, Carolyn Y.

In: JAMA Cardiology, Vol. 2, No. 10, 01.10.2017, p. 1153-1160.

Research output: Contribution to journalReview article

Cirino, AL, Harris, S, Lakdawala, NK, Michels, M, Olivotto, I, Day, SM, Abrams, DJ, Charron, P, Caleshu, C, Semsarian, C, Ingles, J, Rakowski, H, Judge, DP & Ho, CY 2017, 'Role of genetic testing in inherited cardiovascular disease: A review', JAMA Cardiology, vol. 2, no. 10, pp. 1153-1160. https://doi.org/10.1001/jamacardio.2017.2352
Cirino AL, Harris S, Lakdawala NK, Michels M, Olivotto I, Day SM et al. Role of genetic testing in inherited cardiovascular disease: A review. JAMA Cardiology. 2017 Oct 1;2(10):1153-1160. https://doi.org/10.1001/jamacardio.2017.2352
Cirino, Allison L. ; Harris, Stephanie ; Lakdawala, Neal K. ; Michels, Michelle ; Olivotto, Iacopo ; Day, Sharlene M. ; Abrams, Dominic J. ; Charron, Philippe ; Caleshu, Colleen ; Semsarian, Christopher ; Ingles, Jodie ; Rakowski, Harry ; Judge, Daniel P. ; Ho, Carolyn Y. / Role of genetic testing in inherited cardiovascular disease : A review. In: JAMA Cardiology. 2017 ; Vol. 2, No. 10. pp. 1153-1160.
@article{ddf8dd7aa8de445ca9bf7a30b5394362,
title = "Role of genetic testing in inherited cardiovascular disease: A review",
abstract = "IMPORTANCE: Genetic testing is a valuable tool for managing inherited cardiovascular disease in patients and families, including hypertrophic, dilated, and arrhythmogenic cardiomyopathies and inherited arrhythmias. By identifying the molecular etiology of disease, genetic testing can improve diagnostic accuracy and refine family management. However, unique features associated with genetic testing affect the interpretation and application of results and differentiate it from traditional laboratory-based diagnostics. Clinicians and patients must have accurate and realistic expectations about the yield of genetic testing and its role in management. Familiarity with the rationale, implications, benefits, and limitations of genetic testing is essential to achieve the best possible outcomes. OBSERVATIONS: Successfully incorporating genetic testing into clinical practice requires (1) recognizing when inherited cardiovascular disease may be present, (2) identifying appropriate individuals in the family for testing, (3) selecting the appropriate genetic test, (4) understanding the complexities of result interpretation, and (5) effectively communicating the results and implications to the patient and family. Obtaining a detailed family history is critical to identify families who will benefit from genetic testing, determine the best strategy, and interpret results. Instead of focusing on an individual patient, genetic testing requires consideration of the family as a unit. Consolidation of care in centers with a high level of expertise is recommended. Clinicians without expertise in genetic testing will benefit from establishing referral or consultative networks with experienced clinicans in specialized multidisciplinary clinics. CONCLUSIONS AND RELEVANCE: Genetic testing provides a foundation for transitioning to more precise and individualized management. By distinguishing phenotypic subgroups, identifying disease mechanisms, and focusing family care, gene-based diagnosis can improve management. Successful integration of genetic testing into clinical practice requires understanding of the complexities of testing and effective communication of the implications to patients and families.",
author = "Cirino, {Allison L.} and Stephanie Harris and Lakdawala, {Neal K.} and Michelle Michels and Iacopo Olivotto and Day, {Sharlene M.} and Abrams, {Dominic J.} and Philippe Charron and Colleen Caleshu and Christopher Semsarian and Jodie Ingles and Harry Rakowski and Judge, {Daniel P.} and Ho, {Carolyn Y.}",
year = "2017",
month = "10",
day = "1",
doi = "10.1001/jamacardio.2017.2352",
language = "English (US)",
volume = "2",
pages = "1153--1160",
journal = "JAMA Cardiology",
issn = "2380-6583",
publisher = "American Medical Association",
number = "10",

}

TY - JOUR

T1 - Role of genetic testing in inherited cardiovascular disease

T2 - A review

AU - Cirino, Allison L.

AU - Harris, Stephanie

AU - Lakdawala, Neal K.

AU - Michels, Michelle

AU - Olivotto, Iacopo

AU - Day, Sharlene M.

AU - Abrams, Dominic J.

AU - Charron, Philippe

AU - Caleshu, Colleen

AU - Semsarian, Christopher

AU - Ingles, Jodie

AU - Rakowski, Harry

AU - Judge, Daniel P.

AU - Ho, Carolyn Y.

PY - 2017/10/1

Y1 - 2017/10/1

N2 - IMPORTANCE: Genetic testing is a valuable tool for managing inherited cardiovascular disease in patients and families, including hypertrophic, dilated, and arrhythmogenic cardiomyopathies and inherited arrhythmias. By identifying the molecular etiology of disease, genetic testing can improve diagnostic accuracy and refine family management. However, unique features associated with genetic testing affect the interpretation and application of results and differentiate it from traditional laboratory-based diagnostics. Clinicians and patients must have accurate and realistic expectations about the yield of genetic testing and its role in management. Familiarity with the rationale, implications, benefits, and limitations of genetic testing is essential to achieve the best possible outcomes. OBSERVATIONS: Successfully incorporating genetic testing into clinical practice requires (1) recognizing when inherited cardiovascular disease may be present, (2) identifying appropriate individuals in the family for testing, (3) selecting the appropriate genetic test, (4) understanding the complexities of result interpretation, and (5) effectively communicating the results and implications to the patient and family. Obtaining a detailed family history is critical to identify families who will benefit from genetic testing, determine the best strategy, and interpret results. Instead of focusing on an individual patient, genetic testing requires consideration of the family as a unit. Consolidation of care in centers with a high level of expertise is recommended. Clinicians without expertise in genetic testing will benefit from establishing referral or consultative networks with experienced clinicans in specialized multidisciplinary clinics. CONCLUSIONS AND RELEVANCE: Genetic testing provides a foundation for transitioning to more precise and individualized management. By distinguishing phenotypic subgroups, identifying disease mechanisms, and focusing family care, gene-based diagnosis can improve management. Successful integration of genetic testing into clinical practice requires understanding of the complexities of testing and effective communication of the implications to patients and families.

AB - IMPORTANCE: Genetic testing is a valuable tool for managing inherited cardiovascular disease in patients and families, including hypertrophic, dilated, and arrhythmogenic cardiomyopathies and inherited arrhythmias. By identifying the molecular etiology of disease, genetic testing can improve diagnostic accuracy and refine family management. However, unique features associated with genetic testing affect the interpretation and application of results and differentiate it from traditional laboratory-based diagnostics. Clinicians and patients must have accurate and realistic expectations about the yield of genetic testing and its role in management. Familiarity with the rationale, implications, benefits, and limitations of genetic testing is essential to achieve the best possible outcomes. OBSERVATIONS: Successfully incorporating genetic testing into clinical practice requires (1) recognizing when inherited cardiovascular disease may be present, (2) identifying appropriate individuals in the family for testing, (3) selecting the appropriate genetic test, (4) understanding the complexities of result interpretation, and (5) effectively communicating the results and implications to the patient and family. Obtaining a detailed family history is critical to identify families who will benefit from genetic testing, determine the best strategy, and interpret results. Instead of focusing on an individual patient, genetic testing requires consideration of the family as a unit. Consolidation of care in centers with a high level of expertise is recommended. Clinicians without expertise in genetic testing will benefit from establishing referral or consultative networks with experienced clinicans in specialized multidisciplinary clinics. CONCLUSIONS AND RELEVANCE: Genetic testing provides a foundation for transitioning to more precise and individualized management. By distinguishing phenotypic subgroups, identifying disease mechanisms, and focusing family care, gene-based diagnosis can improve management. Successful integration of genetic testing into clinical practice requires understanding of the complexities of testing and effective communication of the implications to patients and families.

UR - http://www.scopus.com/inward/record.url?scp=85032499322&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85032499322&partnerID=8YFLogxK

U2 - 10.1001/jamacardio.2017.2352

DO - 10.1001/jamacardio.2017.2352

M3 - Review article

C2 - 28793145

AN - SCOPUS:85032499322

VL - 2

SP - 1153

EP - 1160

JO - JAMA Cardiology

JF - JAMA Cardiology

SN - 2380-6583

IS - 10

ER -