Psychosocial Impact of a Positive Gene Result for Asymptomatic Relatives at Risk of Hypertrophic Cardiomyopathy
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Families with a history of hypertrophic cardiomyopathy (HCM) may be offered genetic testing in addition to clinical surveillance. Asymptomatic family members who are gene positive (silent gene carriers) represent a new group of “patients” who may not develop HCM, with little evidence available to assist clinical management. This study explored experiences of HCM genetic testing to identify potential benefits and harms. Thirty-two individuals previously offered genetic testing for HCM were recruited. Semi-structured interviews were conducted face-to-face or by phone, and transcribed audio-recordings were coded using framework analysis. Key themes were as follows: (1) helping the next generation, (2) misunderstanding risk, (3) discrepancy between actual/perceived impact. Participants described multiple psychological (shock, worry, uncertainty) and behavioural (career, sport, insurance, family planning) consequences, depending on perceived risk. Most considered only the benefits of genetic testing for children or grandchildren, but there were some cases of significant adverse impact. The interpretation of the HCM genetic test result is variable for silent gene carriers and can lead to psychological and behavioural changes. The impact of a positive gene result may be mitigated by increased clarity of the clinical consequences and efforts to ensure informed decision-making, highlighting even further the important role of cardiac genetic counselling.
KeywordsHypertrophic cardiomyopathy Genetic testing Genetic counselling Informed decision-making Psychosocial impact
The authors would like to thank the participants for sharing their experiences and time.
The study was funded by a collaboration grant from the School of Public Health at the University of Sydney. CB is the recipient of a National Health and Medical Research Council (NHMRC)/National Heart Foundation of Australia Early Career Fellowship (#1122788). JI is the recipient of a National Heart Foundation of Australia Future Leader Fellowship (#100833). CSe is the recipient of a NHMRC Practitioner Fellowship (#1059156). KM is the recipient of a NHMRC Career Development Fellowship Level 2 (#1029241). CSp conducted this work to fulfil a professional certification requirement.
Compliance with Ethical Standards
Conflict of Interest
Carissa Bonner, Catherine Spinks, Christopher Semsarian, Alex Barratt, Jodie Ingles, and Kirsten McCaffery declare that they have no conflict of interest.
Human Studies and Informed Consent
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.
No animal studies were carried out by the authors for this article.
- Ackerman, M. J., Priori, S. G., Willems, S., Berul, C., Brugada, R., Calkins, H., Camm, A. J., Ellinor, P. T., Gollob, M., Hamilton, R., Hershberger, R. E., Judge, D. P., Le Marec, H., McKenna, W. J., Schulze-Bahr, E., Semsarian, C., Towbin, J. A., Watkins, H., Wilde, A., Wolpert, C., & Zipes, D. P. (2011). HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm, 8(8), 1308–1339.CrossRefPubMedGoogle Scholar
- Alfares, A. A., Kelly, M. A., McDermott, G., Funke, B. H., Lebo, M. S., Baxter, S. B., Shen, J., McLaughlin, H. M., Clark, E. H., Babb, L. J., Cox, S. W., DePalma, S. R., Ho, C. Y., Seidman, J. G., Seidman, C. E., & Rehm, H. L. (2015). Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genetics in medicine : official journal of the Am College Med Genet, 17(11), 880–888.CrossRefGoogle Scholar
- Caleshu, C., Kasparian, NA, Edwards, KS, Yeates, L., Semsarian, C., Perez, M., Ashley, E., Turner, C. J., Knowles, J. W., Ingles, J.. (2016). Interdisciplinary psychosocial care for families with inherited cardiovascular diseases. Trends in Cardiovascular Medicine.Google Scholar
- Christiaans, I., Birnie, E., Bonsel, G. J., Mannens, M. M., Michels, M., Majoor-Krakauer, D., Dooijes, D., van Tintelen, J. P., van den Berg, M. P., Volders, P. G., Arens, Y. H., van den Wijngaard, A., Atsma, D. E., Helderman-van den Enden, A. T., Houweling, A. C., de Boer, K., van der Smagt, J. J., Hauer, R. N., Marcelis, C. L., Timmermans, J., van Langen, I. M., & Wilde, A. A. (2011). Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy. European Heart Journal, 32(9), 1161–1170.CrossRefPubMedGoogle Scholar
- Christiaans, I., van Langen, I. M., Birnie, E., Bonsel, G. J., Wilde, A. A., & Smets, E. M. (2009). Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: the patients’ perspective. American Journal of Medical Genetics. Part A, 149A(7), 1444–1451.CrossRefPubMedGoogle Scholar
- Gersh, B. J., Maron, B. J., Bonow, R. O., Dearani, J. A., Fifer, M. A., Link, M. S., Naidu, S. S., Nishimura, R. A., Ommen, S. R., Rakowski, H., Seidman, C. E., Towbin, J. A., Udelson, J. E., & Yancy, C. W. (2011). 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Developed in collaboration with the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons. J Am College Cardiol, 58(25), e212–e260.CrossRefGoogle Scholar
- Ho, C. Y., Lakdawala, N. K., Cirino, A. L., Lipshultz, S. E., Sparks, E., Abbasi, S. A., Kwong, R. Y., Antman, E. M., Semsarian, C., Gonzalez, A., Lopez, B., Diez, J., Orav, E. J., Colan, S. D., & Seidman, C. E. (2015). Diltiazem treatment for pre-clinical hypertrophic cardiomyopathy sarcomere mutation carriers: a pilot randomized trial to modify disease expression. JACC. Heart Failure, 3(2), 180–188.CrossRefPubMedGoogle Scholar
- Ingles, J., Sarina, T., Kasparian, N., & Semsarian, C. (2013a). Psychological wellbeing and posttraumatic stress associated with implantable cardioverter defibrillator therapy in young adults with genetic heart disease. International Journal of Cardiology, 168(4), 3779–3784.CrossRefPubMedGoogle Scholar
- James, C. A., Tichnell, C., Murray, B., Daly, A., Sears, S. F., & Calkins, H. (2012). General and disease-specific psychosocial adjustment in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy with implantable cardioverter defibrillators: a large cohort study. Circulation. Cardiovascular Genetics, 5(1), 18–24.CrossRefPubMedGoogle Scholar
- Maron, B. J., Gardin, J. M., Flack, J. M., Gidding, S. S., Kurosaki, T. T., & Bild, D. E. (1995). Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation, 92(4), 785–789.CrossRefGoogle Scholar
- Ritchie, J., Spencer, L., & O’Connor, W. (2003). Carrying out qualitative analysis. In J. Ritchie & L. Spencer (Eds.), Qualitative research practice: a guide for social science students and researchers (pp. 219–262). London: Sage.Google Scholar