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Minding the Genes: a Multidisciplinary Approach towards Genetic Assessment of Cardiovascular Disease

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Journal of Genetic Counseling

Abstract

Genetic assessment for inherited cardiovascular disease (CVD) is increasingly available, due in part to rapid innovations in genetic sequencing technologies. While genetic testing is aimed at reducing uncertainty, it also produces awareness of potential medical conditions and can leave patients feeling uncertain about their risk, especially if there are ambiguous results. This uncertainty can produce psychological distress for patients and their families undergoing the assessment process. Additionally, patients may experience psychological distress related to living with inherited CVD. In order to more effectively manage the psychosocial challenges related to genetic assessment for CVD, a multidisciplinary model expanded to include psychologists and other allied health professionals is outlined. A case study is provided to illustrate how psychological distress can manifest in a patient living with inherited CVD, as well as proposed psychological management of this patient. Finally, a guide for genetic counselors is provided to aid in identifying and managing common psychological reactions to genetic assessment for CVD.

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References

  • Ackerman, M. J. (2015). Genetic purgatory and the cardiac channelopathies: exposing the variants of uncertain/unknown significance issue. Heart Rhythm, 12(11), 2325–2331.

    Article  PubMed  Google Scholar 

  • Ackerman, M. J., Priori, S. G., Willems, S., Berul, C., Brugada, R., Calkins, H., et al. (2011). HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies. Europace, 13(8), 1077–1109.

    Article  PubMed  Google Scholar 

  • Altman, R. K., Parks, K. A., Schlett, C. L., Orencole, M., Park, M. Y., Truong, Q. A., et al. (2012). Multidisciplinary care of patients receiving cardiac resynchronization therapy is associated with improved clinical outcomes. European Heart Journal, 33(17), 2181–2188.

    Article  PubMed  PubMed Central  Google Scholar 

  • American Psychological Association Practice Organization (2016). Psychologist Locator. .Retrieved from http://locator.apa.org

  • Chu, D., Anastacio, M. M., Mulukutla, S. R., Lee, J. S., Smith, A. C., Marroquin, O. C., et al. (2014). Safety and efficacy of implementing a multidisciplinary heart team approach for revascularization in patients with complex coronary artery disease: An observational cohort pilot study. JAMA Surgery, 149(11), 1109–1112.

    Article  PubMed  Google Scholar 

  • Eifert, G. H., Thompson, R. N., Zvolensky, M. J., Edwards, K., Frazer, N. L., Haddad, J. W., & Davig, J. (2000). The Cardiac Anxiety Questionnaire: Development and preliminary validity. Behaviour Research and Therapy, 38(10), 1039–1053.

    Article  CAS  PubMed  Google Scholar 

  • Esplen, M. J., Cappelli, M., Wong, J., Bottorff, J. L., Hunter, J., Carroll, J., et al. (2013). Development and validation of a brief screening instrument for psychosocial risk associated with genetic testing: A pan-canadian cohort study. BMJ Open, 3(3), e002227.

    Article  PubMed  PubMed Central  Google Scholar 

  • Fuster, V., Hirshfeld, J. W., Brown, A. S., Brundage, B. H., Fye, W. B., Lewis, R. P., et al. (2004). Working group 8: Defining the different types of cardiovascular specialists and developing a new model for training general clinical cardiologists. Journal of the American College of Cardiology, 44(2), 267–271.

    Article  PubMed  Google Scholar 

  • Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., et al. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine, 15(7), 565–574.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Groeneweg, J. A., Bhonsale, A., James, C. A., te Riele, A. S., Dooijes, D., Tichnell, C., et al. (2015). Clinical presentation, long-term follow-up, and outcomes of 1001 arrhythmogenic right ventricular dysplasia/cardiomyopathy patients and family members. Circulation. Cardiovascular Genetics, 8(3), 437–446.

    Article  CAS  PubMed  Google Scholar 

  • Hamang, A., Eide, G. E., Rokne, B., Nordin, K., & Øyen, N. (2011). General anxiety, depression, and physical health in relation to symptoms of heart-focused anxiety—A cross sectional study among patients living with the risk of serious arrhythmias and sudden cardiac death. Health and Quality of Life Outcomes, 9(1), 1–10.

    Article  Google Scholar 

  • Hamang, A., Eide, G. E., Rokne, B., Nordin, K., Bjorvatn, C., & Øyen, N. (2012). Predictors of heart-focused anxiety in patients undergoing genetic investigation and counseling of long QT syndrome or hypertrophic cardiomyopathy: A one year follow-up. Journal of Genetic Counseling, 21(1), 72–84.

    Article  PubMed  Google Scholar 

  • Hendriks, K. S., Grosfeld, F., Van Tintelen, J., Van Langen, I., Wilde, A., Van Den Bout, J., & Ten Kroode, H. (2005). Can parents adjust to the idea that their child is at risk for a sudden death?: Psychological impact of risk for long QT syndrome. American Journal of Medical Genetics Part A, 138(2), 107–112.

    Article  Google Scholar 

  • Hendriks, K. S., Hendriks, M. M., Birnie, E., Grosfeld, F. J., Wilde, A. A., van den Bout, J., et al. (2008). Familial disease with a risk of sudden death: A longitudinal study of the psychological consequences of predictive testing for long QT syndrome. Heart Rhythm, 5(5), 719–724.

    Article  PubMed  Google Scholar 

  • Ingles, J., Lind, J. M., Phongsavan, P., & Semsarian, C. (2008). Psychosocial impact of specialized cardiac genetic clinics for hypertrophic cardiomyopathy. Genetics in Medicine, 10(2), 117–120.

    Article  PubMed  Google Scholar 

  • Inoue, T., Tanaka, T., Nakagawa, S., Nakato, Y., Kameyama, R., Boku, S., et al. (2012). Utility and limitations of PHQ-9 in a clinic specializing in psychiatric care. BMC Psychiatry, 12(1), 73.

    Article  PubMed  PubMed Central  Google 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.

    Article  PubMed  Google Scholar 

  • Kovacs, A. H., Sears, S. F., & Saidi, A. S. (2005). Biopsychosocial experiences of adults with congenital heart disease: Review of the literature. American Heart Journal, 150(2), 193–201.

    Article  PubMed  Google Scholar 

  • Kroenke, K., Spitzer, R. L., Williams, J. B., & Löwe, B. (2009). An ultra-brief screening scale for anxiety and depression: The PHQ–4. Psychosomatics, 50(6), 613–621.

    PubMed  Google Scholar 

  • Lichtman, J. H., Bigger, J. T. Jr, Blumenthal, J. A., Frasure-Smith, N., Kaufmann, P. G., Lesperance, F.,.. . American Psychiatric Association. (2008). Depression and coronary heart disease: Recommendations for screening, referral, and treatment: A science advisory from the American Heart Association prevention committee of the council on cardiovascular nursing, council on clinical cardiology, council on epidemiology and prevention, and interdisciplinary council on quality of care and outcomes research: Endorsed by the American Psychiatric Association. Circulation, 118(17), 1768–1775.

    Article  PubMed  Google Scholar 

  • Oliveri, S., Renzi, C., Masiero, M., & Pravettoni, G. (2015). Living at risk: Factors that affect the experience of direct-to-consumer genetic testing. Paper presented at the Mayo Clin Proc, 90(10), 1323–1326.

    Article  Google Scholar 

  • Peek, C. J. (2013). Integrated behavioral health and primary care: A common language. In Integrated Behavioral Health in Primary Care (pp. 9–31). Springer New York.

  • Perry, J., Lanzberg, M., Franklin, W., Webb, G., & Chang, A. C. (2011). Cardiac intensive care of the adult with congenital heart disease: Basic principles in the management of common problems. World Journal for Pediatric & Congenital Heart Surgery, 2(3), 430–444.

    Article  Google Scholar 

  • Psychology Today (2016). Find a Therapist. .Retrieved from https://therapists.psychologytoday.com/rms

  • Rosman, L., Whited, A., Lampert, R., Mosesso, V. N., Lawless, C., & Sears, S. F. (2015). Cardiac anxiety after sudden cardiac arrest: Severity, predictors and clinical implications. International Journal of Cardiology, 181, 73–76.

    Article  PubMed  Google Scholar 

  • Sears, S. F., Burns, J. L., Handberg, E., Sotile, W. M., & Conti, J. B. (2001). Young at heart: Understanding the unique psychosocial adjustment of young implantable cardioverter defibrillator recipients. Pacing and Clinical Electrophysiology, 24(7), 1113–1117.

    Article  PubMed  Google Scholar 

  • Vos, J., Asperen, C. J., Oosterwijk, J. C., Menko, F. H., Collee, M. J., Garcia, E. G., & Tibben, A. (2013). The counselees' self-reported request for psychological help in genetic counseling for hereditary breast/ovarian cancer: Not only psychopathology matters. Psycho-Oncology, 22(4), 902–910.

    Article  PubMed  Google Scholar 

  • Ziegelstein, R. C., Thombs, B. D., Coyne, J. C., & de Jonge, P. (2009). Routine screening for depression in patients with coronary heart disease: Never mind. Journal of the American College of Cardiology, 54(10), 886–890.

    Article  PubMed  PubMed Central  Google Scholar 

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Correspondence to Samuel F. Sears.

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Conflict of Interest

Crystal Tichnell and Cynthia James receive salary support from research grants with St. Jude Medical Foundation and Boston Scientific Corp.

Dr. Sears has research grants from Medtronic that are directed to East Carolina University. Dr. Sears also serves as a consultant to Medtronic and funds are directed to East Carolina University. Dr. Sears serves as a consultant to St Jude Medical. He has received speaker honorarium from Medtronic, Boston Scientific, Zoll Medical, Respironics, and St. Jude Medical in the last two years. Dr. Sears is the founder of QOL Apps, Inc. and inventor of ICD Coach.

Ashley Rhodes, Lindsey Rosman, John Cahill, Jodie Ingles, and Brittney Murray 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. For this type of study formal consent is not required.

Animal Studies

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

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Rhodes, A., Rosman, L., Cahill, J. et al. Minding the Genes: a Multidisciplinary Approach towards Genetic Assessment of Cardiovascular Disease. J Genet Counsel 26, 224–231 (2017). https://doi.org/10.1007/s10897-016-0017-z

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  • DOI: https://doi.org/10.1007/s10897-016-0017-z

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