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Practice Variation among an International Group of Genetic Counselors on when to Offer Predictive Genetic Testing to Children at Risk of an Inherited Arrhythmia or Cardiomyopathy

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Journal of Genetic Counseling

Abstract

Cascade predictive genetic testing is available for many families as a means to identify individuals at risk of long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), hypertrophic cardiomyopathy (HCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC). The general issue of offering predictive genetic testing to minors has been an area of ethical debate among genetic counselors and other healthcare professionals for many years. An online questionnaire was circulated to four international genetic counseling associations to assess the views of cardiac genetic counselors regarding when to offer predictive genetic testing to children at risk of LQTS, CPVT, HCM, and ARVC. Analysis was both quantitative and qualitative. The study sample comprised 98 respondents. The majority reported that they offer predictive genetic testing before 5 years of age to children at risk of LQTS (83%) and CVPT (75%) and before 10 years of age to children at risk of HCM (66%) or ARVC (70%). Influencing factors included country of practice, clinical setting, and years of experience. The rationale provided for when to offer predictive genetic testing is encompassed by the ethical principles of beneficence, non-maleficence, autonomy, and informed consent. In conclusion, significant practice variation exists among cardiac genetic counselors regarding predictive genetic testing for children at risk of an inherited cardiomyopathy. These variations call for more research in the area to assist with the development of evidence-based guidelines.

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References

  • 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 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.

    Article  PubMed  Google Scholar 

  • Ackerman, M. J., Zipes, D. P., Kovacs, R. J., & Maron, B. J. (2015). Eligibility and disqualification recommendations for competitive athletes with cardiovascular abnormalities: task force 10: the cardiac channelopathies: a scientific statement from the American heart association and American college of cardiology. Journal of the American College of Cardiology, 66(21), 2424–2428.

    Article  PubMed  Google Scholar 

  • Alderfer, M. A., Lindell, R. B., Viadro, C. I., Zelley, K., Valdez, J., Mandrell, B., et al. (2017). Should genetic testing be offered for children? The perspectives of adolescents and emerging adults in families with li-Fraumeni syndrome. Journal of Genetic Counseling, 26(5), 1106–1115.

    Article  PubMed  Google Scholar 

  • Alders, M., & Mannens, M. M. (2015). Long QT Syndrome. Retrieved from www.ncbi.nlm.nih.gov/books/NBK1129/. Access on May 17, 2018.

  • American College of Cardiology Foundation (ACCF)/American Heart Association (AHA) Task Force on Practice Guidelines, American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, et al. (2011). 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association task force on practice guidelines. The Journal of Thoracic and Cardiovascular Surgery, 142(6), 1303–1338.

    Article  Google Scholar 

  • American Society of Clinical Oncology (ASCO). (2003). American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. Journal of Clinical Oncology, 21(12), 2397–2406.

    Article  Google Scholar 

  • Bonner, C., Spinks, C., Semsarian, C., Barratt, A., Ingles, J., & McCaffery, K. (2018). Psychosocial impact of a positive gene result for asymptomatic relatives at risk of hypertrophic cardiomyopathy. Journal of Genetic Counseling. https://doi.org/10.1007/s10897-018-0218-8 .

  • Borry, P., Stultiens, L., Nys, H., Cassiman, J. J., & Dierickx, K. (2006). Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers. Clinical Genetics, 70(5), 374–381.

    Article  PubMed  CAS  Google Scholar 

  • Botkin, J. R., Belmont, J. W., Berg, J. S., Berkman, B. E., Bombard, Y., Holm, I. A., et al. (2015). Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Journal of Human Genetics, 97(1), 6–21.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Boycott, K., Hartley, T., Adam, S., Bernier, F., Chong, K., Fernandez, B. A., et al. (2015). The clinical application of genome-wide sequencing for monogenic diseases in Canada: position statement of the Canadian College of Medical Geneticists. Journal of Medical Genetics, 52(7), 431–437.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Bratt, E. L., Ostman-Smith, I., Sparud-Lundin, C., & Axelsson, B. A. (2011). Parents’ experiences of having an asymptomatic child diagnosed with hypertrophic cardiomyopathy through family screening. Cardiology in the Young, 21(1), 8–14.

    Article  PubMed  Google Scholar 

  • Bratt, E. L., Sparud-Lundin, C., Ostman-Smith, I., & Axelsson, A. B. (2012). The experience of being diagnosed with hypertrophic cardiomyopathy through family screening in childhood and adolescence. Cardiology in the Young, 22(5), 528–535.

    Article  PubMed  Google Scholar 

  • Charron, P., Arad, M., Arbustini, E., Basso, C., Bilinska, Z., Elliott, P., et al. (2010). Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology working group on myocardial and pericardial diseases. European Heart Journal, 31(22), 2715–2726.

    Article  PubMed  Google Scholar 

  • Christian, S., Somerville, M., Taylor, S., & Atallah, J. (2016). Exercise and beta-blocker therapy recommendations for inherited arrhythmogenic conditions. Cardiology in the Young, 26(6), 1123–1129.

    Article  PubMed  Google Scholar 

  • Cirino, A. (2014). Hypertrophic cardiomyopathy overview. Retrieved from www.ncbi.nlm.nih.gov/books/NBK1768/. Access on May 17, 2018.

  • Corrado, D., Wichter, T., Link, M. S., Hauer, R., Marchlinski, F., Anastasakis, A., et al. (2015). Treatment of arrhythmogenic right ventricular cardiomyopathy/dysplasia: an international task force consensus statement. European Heart Journal, 36(46), 3227–3237.

    PubMed  PubMed Central  Google Scholar 

  • Danzon, P. M. (1990). The “crisis” in medical malpractice: a comparison of trends in the United States, Canada, the United Kingdom and Australia. Law, Medicine & Health Care, 18(1–2), 48–58.

    Article  CAS  Google Scholar 

  • DiLorenzo, T. M., Bargman, E. P., Stucky-Ropp, R., Brassington, G. S., Frensch, P. A., & LaFontaine, T. (1999). Long-term effects of aerobic exercise on psychological outcomes. Preventive Medicine, 28(1), 75–85.

    Article  PubMed  CAS  Google Scholar 

  • Douma, K. F., Aaronson, N. K., Vasen, H., Verhoef, S., Gundy, C. M., & Bleiker, E. M. (2010). Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis. European Journal of Human Genetics, 18(2), 186–193.

    Article  PubMed  Google Scholar 

  • Dunbar, S. B., Dougherty, C. M., Sears, S. F., Carroll, D. L., Goldstein, N. E., Mark, D. B., et al. (2012). Educational and psychological interventions to improve outcomes for recipients of implantable cardioverter defibrillators and their families: a scientific statement from the American Heart Association. Circulation, 126(17), 2146–2172.

    Article  PubMed  Google Scholar 

  • Geelen, E., Van Hoyweghen, I., Doevendans, P. A., Marcelis, C. L., & Horstman, K. (2011). Constructing “best interests”: genetic testing of children in families with hypertrophic cardiomyopathy. American Journal of Medical Genetics, 155A(8), 1930–1938.

    Article  PubMed  Google Scholar 

  • Gjone, H., Diseth, T. H., Fausa, O., Novik, T. S., & Heiberg, A. (2011). Familial adenomatous polyposis: mental health, psychosocial functioning and reactions to genetic risk in adolescents. Clinical Genetics, 79(1), 35–43.

    Article  PubMed  CAS  Google Scholar 

  • Goldenberg, I., Moss, A. J., Peterson, D. R., McNitt, S., Zareba, W., Andrews, M. L., et al. (2008). Risk factors for aborted cardiac arrest and sudden cardiac death in children with the congenital long-QT syndrome. Circulation, 117(17), 2184–2191.

    Article  PubMed  PubMed Central  Google Scholar 

  • Gollob, M. H., Blier, L., Brugada, R., Champagne, J., Chauhan, V., Connors, S., et al. (2011). Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society joint position paper. The Canadian Journal of Cardiology, 27(2), 232–245.

    Article  PubMed  Google Scholar 

  • Hehir-Kwa, J. Y., Claustres, M., Hastings, R. J., van Ravenswaaij-Arts, C., Christenhusz, G., Genuardi, M., et al. (2015). Towards a European consensus for reporting incidental findings during clinical NGS testing. European Journal of Human Genetics, 23(12), 1601–1606.

    Article  PubMed  PubMed Central  Google Scholar 

  • Hein, I. M., Troost, P. W., Lindeboom, R., Christiaans, I., Grisso, T., van Goudoever, J. B., et al. (2015). Feasibility of an assessment tool for children's competence to consent to predictive genetic testing: a pilot study. Journal of Genetic Counseling, 24(6), 971–977.

    Article  PubMed  PubMed Central  Google Scholar 

  • Helmrich, S. P., Ragland, D. R., Leung, R. W., & Paffenbarger Jr., R. S. (1991). Physical activity and reduced occurrence of non-insulin-dependent diabetes mellitus. The New England Journal of Medicine, 325(3), 147–152.

    Article  PubMed  CAS  Google Scholar 

  • Hershberger, R. E., Givertz, M., Ho, C. Y., Judge, D. P., Kantor, P., McBride, K. L., et al. (2018). Genetic evaluation of cardiomyopathy—a Heart Failure Society of America practice guideline. Journal of Cardiac Failure.

  • Human Genetics Society of Australasia (HGSA). (2017). HGSA-policies-and-position-statements. Retrieved from https://www.hgsa.org.au/resources/hgsa-policies-and-position-statements. Accessed on May 17, 2018.

  • Ingles, J., Zodgekar, P. R., Yeates, L., Macciocca, I., Semsarian, C., & Fatkins, D. (2011). Guidelines for genetic testing of inherited cardiac disorders. Heart, Lung & Circulation, 20(11), 681–687.

    Article  Google Scholar 

  • Iyer, V. R., & Chin, A. J. (2013). Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D). American Journal of Medical Genetics. Part A, 163C(3), 185–197.

    Article  Google Scholar 

  • James, C. A., Bhonsale, A., Tichnell, C., Murray, B., Russell, S. D., Tandri, H., et al. (2013). Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. Journal of the American College of Cardiology, 62(14), 1290–1297.

    Article  PubMed  Google Scholar 

  • Kalia, S. S., Adelman, K., Bale, S. J., Chung, W. K., Eng, C., Evans, J. P., et al. (2017). Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genetics in Medicine, 19(2), 249–255.

    Article  PubMed  Google Scholar 

  • Kirchhof, P., Fabritz, L., Zwiener, M., Witt, H., Schafers, M., Zellerhoff, S., et al. (2006). Age- and training-dependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobin-deficient mice. Circulation, 114(17), 1799–1806.

    Article  PubMed  Google Scholar 

  • Koponen, M., Marjamaa, A., Hiippala, A., Happonen, J. M., Havulinna, A. S., Salomaa, V., et al. (2015). Follow-up of 316 molecularly defined pediatric long-QT syndrome patients: Clinical course, treatments, and side effects. Circulation. Arrhythmia and Electrophysiology, 8(4), 815–823.

    Article  PubMed  CAS  Google Scholar 

  • Mammen, G., & Faulkner, G. (2013). Physical activity and the prevention of depression: a systematic review of prospective studies. American Journal of Preventive Medicine, 45(5), 649–657.

    Article  PubMed  Google Scholar 

  • Maron, B. J., Chaitman, B. R., Ackerman, M. J., Bayes de Luna, A., Corrado, D., Crosson, J. E., et al. (2004). Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. Circulation, 109(22), 2807–2816.

    Article  PubMed  Google Scholar 

  • Maron, B. J., Ackerman, M. J., Nishimura, R. A., Pyeritz, R. E., Towbin, J. A., & Udelson, J. E. (2005). Task force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and marfan syndrome. Journal of the American College of Cardiology, 45(8), 1340–1345.

    Article  PubMed  Google Scholar 

  • Maron, B. J., Udelson, J. E., Bonow, R. O., Nishimura, R. A., Ackerman, M. J., Estes 3rd, N. A., et al. (2015). Eligibility and disqualification recommendations for competitive athletes with cardiovascular abnormalities: Task force 3: hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy and other cardiomyopathies, and myocarditis: a scientific statement from the American Heart Association and American College of Cardiology. Circulation, 132(22), e273–e280.

    Article  PubMed  Google Scholar 

  • McNally, E. (2014). Arrhythmogenic right ventricular cardiomyopathy. Retrieved from www.ncbi.nlm.nih.gov/books/NBK1131/. Accessed on May 17, 2018.

  • Meulenkamp, T. M., Tibben, A., Mollema, E. D., van Langen, I. M., Wiegman, A., de Wert, G. M., et al. (2008). Predictive genetic testing for cardiovascular diseases: impact on carrier children. American Journal of Medical Genetics. Part A, 146A(24), 3136–3146.

    Article  PubMed  Google Scholar 

  • Michie, S., Bobrow, M., & Marteau, T. M. (2001). Predictive genetic testing in children and adults: a study of emotional impact. Journal of Medical Genetics, 38(8), 519–526.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Mohammed, S., Lim, Z., Dean, P., Potts, J. E., Tang, J. N., Etheridge, S. P., et al. (2017). Genetic insurance discrimination in sudden arrhythmia death syndromes: empirical evidence from a cross-sectional survey in North America. Circulation. Cardiovascular Genetics, 10(1), e001442.

    Article  PubMed  Google Scholar 

  • Monico, E. P., Calise, A., & Calabro, J. (2008). Torts to contract? Moving from informed consent to shared decision-making. Journal of Healthcare Risk Management, 28(4), 7–9.

    Article  PubMed  Google Scholar 

  • Napolitano, C. (2016). Catecholaminergic polymorphic ventricular tachycardia. Retrieved from www.ncbi.nlm.nih.gov/books/NBK1289/. Accessed on May 17, 2018.

  • National Society of Genetic Counsellors (NSGC). (2016). NSGC 2016 professional status survey: Work environment. Retrieved from: https://www.nsgc.org/p/do/sd/sid=6280, Accessed on August 10, 2017.

  • Nocon, M., Hiemann, T., Muller-Riemenschneider, F., Thalau, F., Roll, S., & Willich, S. N. (2008). Association of physical activity with all-cause and cardiovascular mortality: a systematic review and meta-analysis. European Journal of Cardiovascular Prevention and Rehabilitation, 15(3), 239–246.

    Article  PubMed  Google Scholar 

  • Pelliccia, A., Fagard, R., Bjornstad, H. H., Anastassakis, A., Arbustini, E., Assanelli, D., et al. (2005). Recommendations for competitive sports participation in athletes with cardiovascular disease: a consensus document from the study group of sports cardiology of the working group of cardiac rehabilitation and exercise physiology and the working group of myocardial and pericardial diseases of the European Society of Cardiology. European Heart Journal, 26(14), 1422–1445.

    Article  PubMed  Google Scholar 

  • Postma, A. V., Denjoy, I., Kamblock, J., Alders, M., Lupoglazoff, J. M., Vaksmann, G., et al. (2005). Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. Journal of Medical Genetics, 42(11), 863–870.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Royal College of Pathologists of Australasia (RCPA). (2015). Implementation of massively parallel sequencing. location: Royal College of Pathologists of Australasia. Retrieved from https://www.rcpa.edu.au/getattachment/7d264a73-938f-45b5-912f-272872661aaa/Massively-Parallel-Sequencing-Implementation. Accessed on May 17, 2018.

  • Saberniak, J., Hasselberg, N. E., Borgquist, R., Platonov, P. G., Sarvari, S. I., Smith, H. J., et al. (2014). Vigorous physical activity impairs myocardial function in patients with arrhythmogenic right ventricular cardiomyopathy and in mutation positive family members. European Journal of Heart Failure, 16(12), 1337–1344.

    Article  PubMed  PubMed Central  Google Scholar 

  • Task Force members, Elliott, P. M., Anastasakis, A., Borger, M. A., Borggrefe, M., Cecchi, F., et al. (2014). 2014 ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy: the task force for the diagnosis and management of hypertrophic cardiomyopathy of the European Society of Cardiology (ESC). European Heart Journal, 35(39), 2733–2779.

    Article  Google Scholar 

  • Villain, E., Denjoy, I., Lupoglazoff, J. M., Guicheney, P., Hainque, B., Lucet, V., et al. (2004). Low incidence of cardiac events with beta-blocking therapy in children with long QT syndrome. European Heart Journal, 25(16), 1405–1411.

    Article  PubMed  CAS  Google Scholar 

  • Wade, C. H., Wilfond, B. S., & McBride, C. M. (2010). Effects of genetic risk information on children’s psychosocial wellbeing: a systematic review of the literature. Genetics Medicine, 12(6), 317–326.

    Article  Google Scholar 

  • Wakefield, C. E., Hanlon, L. V., Tucker, K. M., Patenaude, A. F., Signorelli, C., McLoone, J. K., et al. (2016). The psychological impact of genetic information on children: a systematic review. Genetics Medicine, 18(8), 755–762.

    Article  Google Scholar 

  • Wynn, J., Martinez, J., Bulafka, J., Duong, J., Zhang, Y., Chiuzan, C., et al. (2018). Impact of receiving secondary results from genomic research: a 12-month longitudinal study. Journal of Genetic Counseling, 27(3), 709–722.

    Article  PubMed  Google Scholar 

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Acknowledgements

This study was conducted to fulfill requirements for doctorate studies.

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Authors and Affiliations

  1. Department of Medical Genetic, University of Alberta, 826 Medical Sciences Building, Edmonton, AB, T6G 2H7, Canada

    S. Christian & M. Somerville

  2. Department of Medical Genetics, Alberta Health Services, Calgary, AB, Canada

    C. Huculak

  3. Department of Pediatrics, University of Alberta, Edmonton, AB, Canada

    J. Atallah

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  1. S. Christian
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  2. M. Somerville
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Contributions

Christian S contributed to the concept/design, data collection, data analysis/interpretation, statistics, drafting article, approval of article, and agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. Somerville M contributed to the concept/design, critical revision of article, approval of article, and agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. Huculak C contributed to the data analysis and interpretation, critical revision of article, approval of article, and agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. Atallah J contributed to the concept/design, critical revision of article, and approval of article and agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

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Correspondence to S. Christian.

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Susan Christian, Cathleen Huculak, Joseph Atallah, and Martin Somerville declare that they have no conflict of interest.

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The authors assert that all procedures contributing to his work comply with the ethical standards of the relevant national guidelines on human experimentation and with the Helsinki Declaration of 1975, as revised in 2008, and has been approved by the institutional committee (University of Alberta). Consent was implied based on completion of the survey and data was collected anonymously.

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Christian, S., Somerville, M., Huculak, C. et al. Practice Variation among an International Group of Genetic Counselors on when to Offer Predictive Genetic Testing to Children at Risk of an Inherited Arrhythmia or Cardiomyopathy. J Genet Counsel (2018). https://doi.org/10.1007/s10897-018-0293-x

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