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Examining the Psychosocial Impact of Genetic Testing for Cardiomyopathies

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

Inherited cardiomyopathies, including hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), are the most common monogenic cause of cardiac disease and can rarely lead to sudden cardiac death (SCD). They are characterized by incomplete and age-dependent penetrance and are usually initially symptomatic in adulthood yet can present in childhood as well. Over 20 genes have been identified to cause HCM, and more than 40 genes are known to cause DCM. Genetic testing for these genes has been integrated into medical care; however, the psychological impact of genetic testing and the impact of the uncertainty that comes with receiving these results have not been well studied. This study surveyed 90 adult probands and relatives with a personal or family history of cardiomyopathy from a single hospital-based cardiac genetic program to determine the psychosocial impact of genetic testing for cardiomyopathies. Standardized psychological instruments including an adapted Multidimensional Impact of Cancer Risk Assessment (aMICRA), Impact of Event Scale (IES), and Satisfaction with Decision (SWD) scales were utilized. Patients with positive genetic test results had higher scores for intrusive thoughts, avoidance, and distress when compared to those with negative genetic test results and were also more likely to make or plan to make life changes because of the results of their genetic testing. Satisfaction with the decision to undergo genetic testing was similar regardless of genetic test results. The results of this study provide insight into the patient experience of genetic testing for cardiomyopathies and how these experiences are associated with genetic test results and cardiac history.

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Acknowledgments

We would like to thank Mikaela Lum and Nicole Salvatore for their enrollment of the study participants. We would also like to thank the study participants.

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Author notes

  1. Julia Wynn and David T. Holland contributed equally to the work.

Authors and Affiliations

  1. Department of Pediatrics, Division of Molecular Genetics, Columbia University Medical Center, New York, NY, USA

    Julia Wynn, David T. Holland, Priyanka Ahimaz & Wendy K. Chung

  2. Department of Sociomedical Sciences, Mailman School of Public Health, Columbia University, New York, NY, USA

    Jimmy Duong & Wendy K. Chung

  3. Department of Medicine, Columbia University Medical Center, New York, NY, USA

    Wendy K. Chung

Authors
  1. Julia Wynn
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  2. David T. Holland
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  3. Jimmy Duong
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  4. Priyanka Ahimaz
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  5. Wendy K. Chung
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Corresponding author

Correspondence to Wendy K. Chung.

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Conflict of Interest

David T. Holland, Julia Wynn, Jimmy Duong, Priyanka Ahimaz, and Wendy K. Chung declare that they have no conflict of interest.

Human Studies and Informed Consent Statement

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinski Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.

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This manuscript was submitted solely to the Journal of Genetic Counseling and was not published elsewhere.

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Wynn, J., Holland, D.T., Duong, J. et al. Examining the Psychosocial Impact of Genetic Testing for Cardiomyopathies. J Genet Counsel 27, 927–934 (2018). https://doi.org/10.1007/s10897-017-0186-4

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  • DOI: https://doi.org/10.1007/s10897-017-0186-4

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