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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.
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.
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Corresponding Author: Carolyn Y. Ho, MD, Cardiovascular Division, Brigham and Women’s Hospital, 75 Francis St, Boston, MA 02115 (firstname.lastname@example.org).
Accepted for Publication: May 25, 2017.
Published Online: August 9, 2017. doi:10.1001/jamacardio.2017.2352
Author Contributions: Ms Cirino and Dr Ho had full access to all the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis.
Study concept and design: Cirino, Harris, Lakdawala, Michels, Olivotto, Day, Abrams, Caleshu, Semsarian, Ingles, Rakowski, Ho.
Acquisition, analysis, or interpretation of data: Lakdawala, Charron, Judge.
Drafting of the manuscript: Cirino, Harris, Charron, Caleshu, Semsarian, Ho.
Critical revision of the manuscript for important intellectual content: Cirino, Harris, Lakdawala, Michels, Olivotto, Day, Abrams, Caleshu, Semsarian, Ingles, Rakowski, Judge, Ho.
Administrative, technical, or material support: Michels, Ingles, Ho.
Study supervision: Olivotto, Abrams, Charron, Ho.
Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Dr Charron reports receiving funding from an 11CVD01 network grant from the Leducq Foundation, funding from the FP7 UE Best Ageing network, and consultancies, honoraria, and speakers’ fees from Amicus, Boehringer, Genzyme, MyoKardia Inc, Novartis, Sanofi, Servier, and Shire. Ms Caleshu reports serving as a consultant and advisor for Recombine and an advisor for Invitae and Phosphorous. Dr Semsarian reports receiving practitioner fellowship 1059156 from the National Health and Medical Research Council, Australia. Dr Judge reports serving as a scientific advisor for Invitae Corp, MyoKardia Inc, Alnylam Pharmaceuticals, GlaxoSmithKline, and Pfizer. Dr Ho reports serving as a scientific advisor for MyoKardia Inc. No other disclosures were reported.
Funding/Support: This work was supported in part by grants 1P20HL101408 and 1P50HL112349 from the National Heart, Lung, and Blood Institute at the National Institutes of Health (Dr Ho).
Role of the Funder/Sponsor: The sponsor had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.
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