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Principles and Practice of Genetic Counselling for Inherited Cardiac Conditions

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Cardiovascular Genetics and Genomics

Abstract

The definition of Genetic Counselling is a “…communication process which aims to help individuals, couples and families understand and adapt to the medical, psychological, familial and reproductive implications of the genetic contribution to specific health conditions”. Genetic counselling can be applied within different medical settings and can therefore be tailored to provide specific information relevant to the particular condition present within the family. This chapter outlines the essentials and gives guidance to those providing genetic counselling for individuals and families with Inherited Cardiac Conditions (ICCs).

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References

  1. Goldenberg I, Zareba W, Moss AJ. Long QT syndrome. Curr Probl Cardiol. 2008;33(11):629–94.

    Article  PubMed  Google Scholar 

  2. Jensen MK, Havndrup O, Christiansen M, Andersen PS, Diness B, Axelsson A, Skovby F, Kober L, Bundgaard H. Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing. Circulation. 2013;127(1):48–54.

    Article  PubMed  Google Scholar 

  3. Van Driest SL, Ackerman MJ, Ommen SR, Shakur R, Will ML, Nishimura RA, Tajik AJ, Gersh BJ. Prevalence and severity of “benign” mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy. Circulation. 2002;106(24):3085–90.

    Article  PubMed  Google Scholar 

  4. Arad M, Monserrat L, Haron-Khun S, Seidman JG, Seidman C, Arbustini E, Glikson M, Freimark D. Merits and pitfalls of genetic testing in a hypertrophic cardiomyopathy clinic. Isr Med Assoc J. 2014;16:707–13.

    PubMed  Google Scholar 

  5. Ellaway C. Paediatric fabry disease. Translat Paediatr. 2016;5(1):37–42.

    Google Scholar 

  6. Gourraud J-B, Barc J, Thollet A, Le Scouarnec S, Le Marec H, Schott J-J, Redon R, Probst V. The Brugada syndrome: a rare arrhythmia disorder with complex inheritance. Front Cardiovasc Med. 2016;3:9.

    Article  PubMed  PubMed Central  Google Scholar 

  7. El-Hattab AW, Scaglia F. Mitochondrial cardiomyopathies. Front Cardiovasc Med. 2016;3:25. https://doi.org/10.3389/fcvm.2016.00025.

    Article  PubMed  PubMed Central  Google Scholar 

  8. Koeppn AH, Becker AB, Feustel PJ, Gelman BB, Mazurkiewicz JE. The significance of intercalated discs in the pathogenesis of Friedreich cardiomyopathy. J Neurol Sci. 2016;367:171–6.

    Article  Google Scholar 

  9. Sen-Chowdhry S, McKenna WJ. Sudden death from genetic and acquired cardiomyopathies. Circulation. 2012;125(12):1563–76.

    Article  PubMed  Google Scholar 

  10. Wolf C, Michael A, Ferhaan A, Atsushi S, Scott B, Okan T, Tetsuo K, Gregory M, Jeffrey R, Seidman JG, Christine S, Charles B. Reversibility of PRKAG2 glycogen-storage cardiomyopathy and electrophysiological manifestations. Circulation. 2008;117(1):144–54.

    Article  CAS  PubMed  Google Scholar 

  11. Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet. 2006;79(1):31–40.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Zarate YA, Hopkin RJ. Fabry’s disease. Lancet. 2008;372(9647):1427–35.

    Article  CAS  PubMed  Google Scholar 

  13. Eng CM, Guffon N, Wilcox WR, German DP, Lee P, Waldex S, Caplan L, Linthorst GE, Desnick RJ. Safety and efficacy of recombinant human α-Galactosidase a replacement therapy in Fabry’s disease. N Engl J Med. 2001;345(1):9–16.

    Article  CAS  PubMed  Google Scholar 

  14. Mehta A, Beck M, Eyskens F, Feliciani C, Kantola I, Ramaswami U, Rolfs A, Rivera A, Waldek S, Germain DP. Fabry disease: a review of current management strategies. Q J Med. 2010;103(9):641–59.

    Article  CAS  Google Scholar 

  15. Schiffmann R, Kopp JB, Austin HA III, Sabnis S, Moore DF, Weibel T, Balow JE, Brady RO. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. J Am Med Assoc. 2001;285(21):2743–9.

    Article  CAS  Google Scholar 

  16. Nishino I, Jin F, Kurenzai T, Takeshi Y, Sadatomo S, Tateo K, Marina M, Riggs JE, Oh SJ, Yasutoshi K, Sue CM, Ayaka Y, Nobuyuki M, Sara S, Edward B, Eduardo B, Ikuya N, Salvatore DM, Michio H. Primary Lamp-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature. 2000;406:906–10.

    Article  CAS  PubMed  Google Scholar 

  17. Ingles J, Semsarian C. Sudden cardiac death in the young: a clinical genetic approach. Intern Med J. 2007;37(1):32–37.

    Google Scholar 

  18. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003;107(17):2227–32.

    Article  PubMed  Google Scholar 

  19. Jacoby D, McKenna WJ. Genetics of inherited cardiomyopathy. Eur Heart J. 2012;33:296–304.

    Article  CAS  PubMed  Google Scholar 

  20. Ackerman MJ. Genetic testing for risk stratification in hypertrophic cardiomyopathy and long QT syndrome: fact or fiction? Curr Opin Cardiol. 2005;20:175–81.

    Article  PubMed  Google Scholar 

  21. Priori SG, Barhanin J, Hauer RN, Haverkamp W, Jongsma HJ, Kleber AG, McKenna WJ, Roden DM, Rudy Y, Schwartz K, Schwartz PJ, Towbin JA, Wilde A. Genetic and molecular basis of cardiac arrhythmias; impact on clinical management. Study group on molecular basis of arrhythmias of the working group on arrhythmias of the european society of cardiology. Eur Heart J. 1999;20(3):174–95.

    Article  CAS  PubMed  Google Scholar 

  22. Keren A, Syrris P, McKenna WJ. Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. Nat Clin Practice Cardiovasc Med. 2008;5(3):158–68.

    Article  CAS  Google Scholar 

  23. Van Rijsingen I, Arbustini E, Elliott PM, Mogensen J, Hermans-van JF, van der Kooi AJ, van Tintelen P, van den Berg MP, Pilotto A, Pasotti M, Jenkins S, Rowland C, Aslam U, Wilde AAM, Perrot A, Pankuweit S, Zwinderman AH, Charron P, Pinto YM. Risk factors for malignant ventricular arrhythmias in Lamin a/C mutation carriers. J Am Coll Cardiol. 2012;59(5):493–500.

    Article  PubMed  Google Scholar 

  24. Antzelevitch C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D, Gussak I, Le Marec H, Nademanee K, Ricardo A, Riera P, Shimizu W, Schulze-Bahr E, Tan H, Wilde A. Brugada syndrome report of the second consensus conference. Circulation. 2005;111:659–70.

    Article  PubMed  Google Scholar 

  25. Cotton RG, Scriver CR. Proof of disease casuing2 mutations. Hum Mutat. 1998;12:1–3.

    Article  CAS  PubMed  Google Scholar 

  26. British Society of Human Genetics. Report on the genetic testing of children. 2010. www.bsgm.org.uk/media/678741/gtoc_booklet_final_new.pdf. Accessed Apr 2016.

  27. Clarke A. The genetic testing of children. J Med Genet. 1995;32(6):492.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  28. McConkie-Rosell A, Spiridigliozzi GA. “Family matters”: a conceptual framework for genetic testing in children. J Genet Couns. 2004;13:9–29.

    Article  PubMed  Google Scholar 

  29. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet. 1995;57(5):1233–41.

    PubMed Central  Google Scholar 

  30. Heart Rhythm UK Familial Sudden Death Syndromes Statement Development. Clinical indications for genetic testing in familial sudden cardiac death syndromes: and HRUK position statement. Heart. 2008;94:502–7.

    Article  Google Scholar 

  31. Clarke A. The genetic testing of children. Working Party of the Clinical Genetics Society (UK). J Med Genet. 1994;31(10):785–97.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  32. Bos MJ, Towbin JA, Ackerman MJ. Diagnostic, prognostic and therapeutic implications of genetic testing for hypertrophic cardiomyopathy. J Am Coll Cardiol. 2009;54(3):201–11.

    Article  CAS  PubMed  Google Scholar 

  33. Ormonroyd E, Oates S, Parker M, Blair E, Watkins H. Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications. Eur J Hum Genet. 2014;22(1):88–93.

    Article  Google Scholar 

  34. Mangset M, Hofmann B. LQTS parents’ reflections about genetic risk knowledge and their need to know or not to know their children’s carrier status. J Genet Couns. 2014;23(6):1022–33.

    Article  PubMed  Google Scholar 

  35. Gillick v West Norfolk & Wisbeck Area Health Authority. AC 112 House of Lords. 1986.

    Google Scholar 

  36. Human Tissue Act. Chapter 30. Crown copyright. 2004.

    Google Scholar 

  37. Human Tissue Authority. Code of practice 1: consent. Crown Copyright. 2014. https://www.hta.gov.uk/guidance-professionals/codes-practice/code-practice-1-consent. Accessed 25 Apr 2016.

  38. Department of Health. Reference guide to consent for examination or treatment. Crown Copyright. 2009. https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/138296/dh_103653__1_.pdf. Accessed 25 Apr 2016.

  39. General Medical Council. Consent: patients and doctors making decisions together. 2008. http://www.gmc-uk.org/static/documents/content/Consent_-_English_1015.pdf. Accessed 25 Apr 2016.

  40. Joint Committee on Medical Genetics. Consent and confidentiality in genetic practice: guidance on genetic testing and sharing genetic information. Report of the Joint Committee on Medical Genetics. Copyright © 2006 Royal College of Physicians. 2006.

    Google Scholar 

  41. Joint Committee on Medical Genetics. Consent and confidentiality in genetic practice: guidance on genetic testing and sharing genetic information. 2011. http://www.bsgm.org.uk/media/678746/consent_and_confidentiality_2011.pdf. Accessed 25 Apr 2016.

  42. Mental Capacity Act. Chapter 9. Crown copyright. 2005.

    Google Scholar 

  43. Human Tissue (Scotland) Act. (asp 4). Crown copyright. 2006.

    Google Scholar 

  44. Brambati B, Lucia T. Chorionic villus sampling and amniocentesis. Curr Opin Obstet Gynaecol. 2005;17(2):197–201.

    Article  Google Scholar 

  45. Wilson DR. Amniocentesis and chorionic villus sampling. Curr Opin Obstetr Cardiol. 2000;12(2):81–6.

    Article  CAS  Google Scholar 

  46. Human Fertilisation and Embryology Association. 2016. Available at: www.hfea.gov.uk. Accessed May 2016.

  47. Her Majesty’s Government and Association of British Insurers. Concordat and moratorium on genetics and insurance. 2014. https://www.gov.uk/government/publications/agreement-extended-on-predictive-genetic-tests-and-insurance. Accessed 06 May 2016.

  48. Genetic Alliance UK. Genetic conditions and insurance: what you need to know and what you need to tell. 2012. www.geneticalliance.org.uk/docs/genetics-and-insurance.pdf. Accessed 06 May 2016.

  49. Merlevede E, Spooren D, Henderick H, Portzky G, Buylaert W, Jannes C, Calle P, Van Staey M, De Rock C, Smeesters L, Michem N, van Heeringen K. Perceptions, needs and mourning reactions of bereaved relatives confronted with a sudden unexpected death. Resuscitation. 2004;61:341–8.

    Article  PubMed  Google Scholar 

  50. European Society of Cardiology, Priori SG, Blomström-Lundqvist C, Mazzanti A, Blom N, Borggrefe M, Camm J, Elliott PM, Fitzsimons D, Hatala R, Hindricks G, Kirchhof P, Kjeldsen K, Kuck KH, Hernandez-Madrid A, Nikolaou N, Norekvål TM, Spaulding C, Van Velhuisen DJ. European Society of Cardiology Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J. 2015;36:2793–867.

    Article  Google Scholar 

  51. Van der Werf C, Hofman N, Tan HL, van Dessel PF, Alders M, van der Wal AC, van Langen IM, Wilde AA. Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: the experience of a tertiary referral centre in the Netherlands. Heart Rhythm. 2010;7(10):1383–9.

    Article  PubMed  Google Scholar 

  52. Hidayatallah N, Silverstein LB, Stolerman M, McDonald T, Walsh CA, Plajevic E, Cohen LL, Marion RW, Wasserman D, Hreyo S, Dolan SM. Psychological stress associated with cardiogenetic conditions. Pers Med. 2014;11(7):631–40.

    Article  CAS  Google Scholar 

  53. Elisabeth Kübler-Ross foundation. 2016. Available at: http://www.ekrfoundation.org/. Accessed 11 May 2016.

  54. Worden W. Grief counselling and grief therapy: a handbook for the mental health practitioner. 4th ed. London: Routledge; 2009. p. 978–0415559.

    Google Scholar 

  55. Vincent GM. Sudden cardiac arrest in the young due to inherited arrhythmias: the importance of family care. Pacing Clin Electrophysiol. 2009;32:S19–22.

    Article  PubMed  Google Scholar 

  56. Clements PT, Garzon L, Milliken TF. ‘Survivors’ guilt following sudden traumatic loss: promoting early intervention in the critical care setting’. Crit Care Nurs Clin North Am. 2006;18(3):359–69.

    Article  PubMed  Google Scholar 

  57. MacLeod R, Tibben A, Frontali M, Evers-Kiebooms G, Jones A, Martinez-Descales A, Roos R. Recommendations for the predictive genetic test in Huntington’s disease. Clin Genet. 2013;83(3):221–31.

    Article  CAS  PubMed  Google Scholar 

  58. Mikulincer M, Shaver PR. The attachment behavioral system in adulthood: activation, psychodynamics, and interpersonal processes. In: Zanna MP, editor. Advances in experimental social psychology. San Diego: Elsevier Academic Press; 2003. p. 53–152.

    Google Scholar 

  59. Pietromonaco P, Feldman Barrett L, Powers SI. Adult attachment theory and affective reactivity and regulation. In: Snyder DK, Simpson JA, Hughes JN, editors. Emotion regulation in couples and families: pathways to dysfunction and health, vol. 1. Washington: American Psychological Association; 2006. p. 57–74.

    Chapter  Google Scholar 

  60. Christiaans I, van Langen IM, Birnie E, Bonsel GJ, Wilde AA, Smets EM. Genetic counselling and cardiac care in predictively tested hypertrophic cardiomyopathy pathogenic variant carriers: the patients’ perspective. Am J Med Genet. 2009;149A:1444–51.

    Article  PubMed  Google Scholar 

  61. Resta R, et al. A new definition of genetic counelling: NSGC task force report. J Genet Couns. 2006;15(2):77–83.

    Article  PubMed  Google Scholar 

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Correspondence to Sharon Jenkins .

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Jenkins, S., Kirwan, C. (2018). Principles and Practice of Genetic Counselling for Inherited Cardiac Conditions. In: Kumar, D., Elliott, P. (eds) Cardiovascular Genetics and Genomics. Springer, Cham. https://doi.org/10.1007/978-3-319-66114-8_3

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  • DOI: https://doi.org/10.1007/978-3-319-66114-8_3

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