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Journal of Genetic Counseling

, Volume 23, Issue 6, pp 1045–1055 | Cite as

Making the Decision to Participate in Predictive Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy

  • April Manuel
  • Fern Brunger
Original Research

Abstract

This paper describes the experience of predictive genetic testing for Arrhythmogenic Right Ventricular Cardiomyopathy in the context of novel gene discovery. Two approaches to making the decision to engage in genetic testing were apparent: the decision to be tested either (a) develops gradually over time or (b) happens so quickly that it is felt as a “fait accompli.” Six key factors that influenced the particular approach taken by the participants were identified: (1) scientific process—available and relevant predictive genetic test; (2) numerous losses or deaths within the family; (3) physical signs and symptoms of disease; (4) gender; (5) sense of relational responsibility or moral obligation to other family members; and (6) family support. This study found that at risk individuals juxtapose scientific knowledge against their experiential knowledge and the six identified factors in order to make the decision to participate in genetic testing. Recommendations include the creation of a relational space within which to provide psychological counselling and assessment for the six identified factors that shape the decision to engage in predictive genetic testing.

Keywords

Arrhythmogenic right ventricular cardiomyopathy Risk Psycho-social factors Decision-making Predictive genetic testing 

Notes

Conflict of Interest

Author April Manuel declares no conflict of interest.

Author Fern Brunger declares no conflict of interest.

Informed Consent

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

Human and Animal Rights

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

References

  1. Ahmad, F., Li, D., Karibe, A., Gonzales, O., Tapscott, T., Hill, R., & Roberts, R. (1998). Localization of a gene responsible for Arrhythmogenic right ventricular dysplasia to chromosome 3p23. Circulation, 98, 2791–2795. doi: 10.1161/01.CIR.98.25.2791.PubMedCrossRefGoogle Scholar
  2. Andersen, J., Oyen, N., Bjorvatn, C., & Gjengedal, E. (2008). Living with long QT syndrome: a qualitative study of coping with increased risk of sudden cardiac death. J Genet Couns, 17, 489–498. doi: 10.1007/s10897-008-9167-y.PubMedCrossRefGoogle Scholar
  3. Armstrong, K., Calzone, K., Stopfer, J., Fitzgerald, G., Coyne, J., & Weber, B. (2000). Factors associated with decisions about clinical BRCA1/2 testing. Cancer Epidemiol Biomarkers, 9, 1251–1254. Retrieved from http://cebp.aacrjournals.org/content/9/11/1251.full.pdf+html.Google Scholar
  4. Binedell, J., Soldan, J. R., & Harper, P. S. (1998). Predictive testing for huntington’s disease: predictors of uptake in South Wales. Clin Genet, 54, 477–88. doi: 10.1111/j.1399-0004.1998.tb03768.x.PubMedCrossRefGoogle Scholar
  5. Blumer, H. (1969). Symbolic interactionism. Perspective and method. New Jersey: Prentice-Hall.Google Scholar
  6. Boenink, M., & van der Burg, S. (2010). Informed decision making about predictive DNA tests: arguments for more public visibility of personal deliberations about the good life. Med Health Care Philos, 13, 127–138. doi: 10.1007/s11019-009-9227-6.PubMedCentralPubMedCrossRefGoogle Scholar
  7. Bombard, Y., Penziner, E., Suchowersky, O., Guttman, M., Jane, S. P., & Joan, L. B. (2008). Engagement with genetic discrimination: concerns and experiences in the context of Huntington disease. Eur J Hum Genet, 16, 279–89. doi: 10.1038/sj.ejhg.5201937.PubMedCentralPubMedCrossRefGoogle Scholar
  8. Bruno, M., Tommasi, S., Stea, B., Quaranta, M., Schittulli, F., & Mastropasqua, A. (2004). Awareness of breast cancer genetics and interest in predictive genetic testing: a survey of a southern Italian population. Ann Oncol, 15(1), I48–I54. doi: 10.1093/annonc/mdh658.PubMedCrossRefGoogle Scholar
  9. Cameron, L. D., Sherman, S., Marteau, T., & Brown, P. (2009). Impact of genetic risk information and type of disease on perceived risk, anticipated affect, and expected consequences of genetic tests. Health Psychol, 28, 307–16. doi: 10.1037/a0013947.PubMedCrossRefGoogle Scholar
  10. Chivers Seymour, K., Addington-Hall, J., Lucassen, A. M., & Foster, C. L. (2010). What facilitates or impedes family communication following genetic testing for cancer risk? A systematic review and meta-synthesis of primary qualitative research. J Genet Couns, 19, 330–342. doi: 10.1007/s10897-010-9296-y.PubMedCrossRefGoogle Scholar
  11. Christiaans, I., Birnie, E., Bonsel, G. J., Wilde, A. M., & van Lange, I. M. (2008). Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy. Eur J Hum Genet, 16, 1201–1207. doi: 10.1038/ejhg.2008.92.PubMedCrossRefGoogle Scholar
  12. Christiaans, I., van Langen, I. M., Birnie, E., Bonsel, G. J., Wilde, A. M., & Smets, E. M. A. (2009). Quality of life and psychological distress in hypertrophic cardiomyopathy mutation carriers: a cross-sectional cohort study. Am J Med Genet A, 149, 602–612. doi: 10.1002/ajmg.a.32710.CrossRefGoogle Scholar
  13. Codori, A. M., Petersen, G. M., Boyd, P. A., Brandt, J., & Giardiello, F. M. (1996). Genetic testing for cancer in children. short-term psychological effect. Arch Pediatr Adolesc Med, 150, 1131–1138.PubMedCrossRefGoogle Scholar
  14. Codori, A. M., Zawacki, K. L., Petersen, G. M., Miglioretti, D. L., Bacon, J. A., Trimbath, J. D., & Giardiello, F. M. (2003). Genetic testing for hereditary colorectal cancer in children: long-term psychological effects. Am J Med Genet A, 116A(2), 117–128. doi: 10.1002/ajmg.a.10926.PubMedCrossRefGoogle Scholar
  15. Corrado, D., Fonatine, G., Marcus, F. I., Mckenna, W. J., Nava, A., Thiene, G., & Wichter, T. (2000). Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry. Circulation, 101, e101–e106. doi: 10.1161/01.CIR.101.11.e101.PubMedCrossRefGoogle Scholar
  16. Cox, S. M. (2003). Stories in decisions: how at-risk individuals decide to request predictive testing for Huntington disease. Qual Sociol, 26(2), 257–280. Retrieved from http://web.ebscohost.com/ehost/pdfviewer/pdfviewer?sid=d7522ca7-f10e-4de9-8eed-9f67e4fea451%40sessionmgr113&vid=2&hid=112.CrossRefGoogle Scholar
  17. Cox, S. M., & McKellin, W. (1999). There’s this thing in our family’: predictive testing and the construction of risk for Huntington disease. Sociol Health Illn, 21, 622–646. doi: 10.1111/1467-9566.00176.CrossRefGoogle Scholar
  18. Cox, M. G. P. J., van der Smagt, J. J., Noorman, M., Wiesfeld, A. C., Volders, P. G. A., van Langen, I. M., & Hauer, R. N. W. (2010). Arrhythmogenic right ventricular dysplasia/cardiomyopathy diagnostic task force criteria. Impact of new task force criteria. Circ Arrhythm Electrophysiol, 3(2), 126–133. doi: 10.1161/CIRCEP.109.927202.PubMedCrossRefGoogle Scholar
  19. d’Agincourt-Canning, L. (2005). The effect of experiential knowledge on construction of risk perception in hereditary breast/ovarian cancer. J Genet Couns, 14(1), 55–69. doi: 10.1007/s10897-005-1500-0.PubMedCrossRefGoogle Scholar
  20. d’Agincourt-Canning, L. (2001). Experiences of genetic risk: disclosure and the gendering of responsibility. Bioethics, 15, 231–247. doi: 10.1111/1467-8519.00234.PubMedCrossRefGoogle Scholar
  21. d’Agincourt-Canning, L. (2006a). A gift or a yoke? women’s and men’s responses to genetic risk information from BRCA1 and BRCA2 testing. Clin Genet, 70, 462–472. doi: 10.1111/j.1399-0004.2006.00720.x.PubMedCrossRefGoogle Scholar
  22. d’Agincourt-Canning, L. (2006b). Genetic testing for hereditary breast and ovarian cancer: responsibility and choice. Qual Health Res, 16(1), 97–118. doi: 10.1177/1049732305284002.PubMedCrossRefGoogle Scholar
  23. Davison, C., Frankel, S., & Smith, G. D. (1989). Inheriting heart trouble: the relevance of common-sense ideas to preventive measures. Health Educ Res, 4, 329–340. doi: 10.1093/her/4.3.329.CrossRefGoogle Scholar
  24. Davison, C., Smith, G. D., & Frankel, S. (1991). Lay epidemiology and the prevention paradox: the implications of coronary candidacy for health education. Sociol Health Illn, 13, 1–19. doi: 10.1111/j.1467-9566.1991.tb00085.x.CrossRefGoogle Scholar
  25. Decruyenaere, M., Evers-Kiebooms, G., Boogaerts, A., Cloostermans, T., Cassiman, J. J., Demyttenaere, K., & Van den Berghe, H. (1997). Non-participation in predictive testing for Huntington’s disease: individual decision-making, personality and avoidant behaviour in the family. Eur J Hum Genet, 5, 351–363. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9450179.PubMedGoogle Scholar
  26. Decruyenaere, M., Evers-Kiebooms, G., Cloostermans, T., Boogaerts, A., Demyttenaere, K., & Dom, R. (2003). Psychological distress in the 5-year period after predictive testing for Huntington’s disease. Eur J Hum Genet, 11(1), 30–38. doi: 10.1038/sj.ejhg.5200913.PubMedCrossRefGoogle Scholar
  27. Douma, K. F., Aaronson, N. K., Vasen, H. F., & Bleiker, E. M. (2008). Psychosocial issues in genetic testing for familial adenomatous polyposis: a review of the literature. Psychooncology, 17, 737–745. doi: 10.1002/pon.1357.PubMedCrossRefGoogle Scholar
  28. Duncan, R. E., Gillam, L., Savulescu, J., Williamson, R., John, G. R., & Martin, B. D. (2007). “Holding your breath”: interviews with young people who have undergone predictive genetic testing for Huntington disease. Am J Med Genet A, 143A, 1984–1989. doi: 10.1002/ajmg.a.31720.PubMedCrossRefGoogle Scholar
  29. Esplen, M. J., Madlensky, L., Butler, K., McKinnon, W., Bapat, B., Wong, J., & Gallinger, S. (2001). Motivations and psychosocial impact of genetic testing for HNPCC. Am J Med Genet A, 103, 9–15. doi: 10.1002/ajmg.1493.CrossRefGoogle Scholar
  30. Etchegary, H. (2005). I have the gene, but I don’t have Huntington disease: Negotiating genetic risk. (Doctoral dissertation). Retrieved from ProQuest.Google Scholar
  31. Etchegary, H. (2006). Genetic testing for Huntington’s disease: how is the decision taken? Genet Test, 10(1), 60–67. doi: 10.1089/gte.2006.10.60.PubMedCrossRefGoogle Scholar
  32. Etchegary, H. (2009). Coping with genetic risk: living with Huntington disease (HD). Curr Psychol, 28, 284–301. doi: 10.1007/s12144-009-9061-2.CrossRefGoogle Scholar
  33. Etchegary, H. (2010). ‘I put it on the back burner most days’: living with chronic risk. Health, 15, 633–649. doi: 10.1177/1363459310364162.PubMedGoogle Scholar
  34. Etchegary, H., & Fowler, K. (2008). They had the right to know. Genetic risk and perceptions of responsibility. Psychol Health, 23, 707–727. doi: 10.1080/14768320701235249.PubMedCrossRefGoogle Scholar
  35. Evers-Kiebooms, G., & Decruyenaere, M. (1998). Predictive testing for Huntington’s disease: a challenge for persons at risk and for professionals. Patient Educ Couns, 35(1), 15–26. doi: 10.1016/S0738-3991(98)00086-X.PubMedCrossRefGoogle Scholar
  36. Evers-Kiebooms, G., Nys, K., Harper, P., Zoeteweij, M., Durr, A., Jacopini, G., & Simpson, S. (2002). Predictive DNA-testing for Huntington’s disease and reproductive decision making: a European collaborative study. Eur J Hum Genet, 10, 167–176. doi: 10.1038/sj.ejhg.5200781.PubMedCrossRefGoogle Scholar
  37. Fontaine, G., Fontaliran, F., & Frank, R. (1998). Arrhythmogenic right ventricular cardiomyopathies. Clinical forms and main differential diagnoses. Circulation, 97, 1532–1535. doi: 10.1161/01.CIR.97.16.1532.PubMedCrossRefGoogle Scholar
  38. Gerull, B., Heuser, A., Wichter, T., Paul, M., Basson, C. T., McDermott, D. A., Lerman, B. B., Markowitz, S. M., & Thierfelder, L. (2004). Mutations in the desmosomal protein plakophilin-2 are common in Arrhythmogenic right ventricular cardiomyopathy. Nat Genet, 36, 1162–1164. doi: 10.1038/ng1461.PubMedCrossRefGoogle Scholar
  39. Glaser, B. G. (1978). Theoretical sensitivity. CA: Sociology Press.Google Scholar
  40. Glaser, B. G., & Strauss, A. L. (1967). The discovery of grounded theory: strategies for qualitative research. New York: Aldine.Google Scholar
  41. Gollob, M. H., Blier, L., Brugada, R., Champagne, J., Chauhan, V., Connors, S., & Woo, A. (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. Can J Cardiol, 27, 232–245. doi: 10.1016/j.cjca.2010.12.078.PubMedCrossRefGoogle Scholar
  42. Haddow, G. (2009). “We only did it because he asked us”: gendered accounts of participation in a population genetic data collection. Soc Sci, 69, 1010–1017. doi: 10.1016/j.socscimed.2009.07.028.Google Scholar
  43. Hallowell, N. (1999). Doing the right thing: genetic risk and responsibility. Sociol Health, 21, 597–621. doi: 10.1111/1467-9566.00175.CrossRefGoogle Scholar
  44. Hallowell, N., Arden-Jones, A., Eeles, R., Foster, C., Lucassen, A., & Moynihan, C. (2006). Guilt, blame and responsibility: men’s understanding of their role in the transmission of BRCA1/2 mutations within their family. Sociol Health, 28, 969–988. doi: 10.1111/j.1467-9566.2006.00515.x.CrossRefGoogle Scholar
  45. Hodgkinson, K., Dicks, E., Connors, S., Young, T.-L., Parfrey, P., & Pullman, D. (2009). Translation of research discoveries to clinical care in Arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador: lessons for health policy in genetic disease. Genet Med, 11, 859–865. doi: 10.1097/GIM.0b013e3181c20bb3.PubMedCrossRefGoogle Scholar
  46. Hodgkinson, K., Connors, S. P., Merner, N., Haywood, A, Young, T-L., McKenna,W.J., … Parfrey, P.S. (2012). The natural history of a genetic subtype of Arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43. Clinical Genetics, 1–11. doi:10.111/j.1399-0004.2012.01919.xGoogle Scholar
  47. Johnson, E. J., & Tversky, A. (1983). Affect, generalization, and the perception of risk. J Pers Soc Psychol, 45(1), 20–31. doi: 10.1037/0022-3514.45.1.20.CrossRefGoogle Scholar
  48. Klitzman, R., Thorne, D., Williamson, J., Chung, W., & Marder, K. (2007). Disclosures of Huntington disease risk within families: patterns of decision-making and implications. Am J Med Genet A, 143A, 1835–1849. doi: 10.1002/ajmg.a.31864.PubMedCrossRefGoogle Scholar
  49. Krimsky, S., & Golding, D. (1992). Social theories of risk. Westport: Praeger Publishers.Google Scholar
  50. Landsbergen, K., Verhaak, C., Kraaimaat, F., & Hoogerbrugge, N. (2005). Genetic uptake in BRCA-mutation families is related to emotional and behavioural communication characteristics of index patients. Fam Cancer, 4(2), 115–119. doi: 10.1007/s10689-004-7991-2.PubMedCrossRefGoogle Scholar
  51. Lerman, C., & Shields, A. E. (2004). Genetic testing for cancer susceptibility: the promise and the pitfalls. Nat Rev Cancer, 4, 235–241. doi: 10.1038/nrc1301.PubMedCrossRefGoogle Scholar
  52. Lerman, C., Daly, M., Masny, A., & Balshem, A. (1994). Attitudes about genetic testing for breast-ovarian cancer susceptibility. J Clin Oncol, 12, 843–850. Retrieved from http://jco.ascopubs.org/content/12/4/843.short.PubMedGoogle Scholar
  53. Lerman, C., Hughes, C., Lemon, S., Main, D., Snyder, C., Durham, C., & Lynch, H. (1998). What you don’t know can hurt you: adverse psychological effects in members of BRCA1-linked and BRCA2-linked families who decline genetic testing. J Clin Oncol, 16, 1650–1654. Retrieved from http://jco.ascopubs.org/content/16/5/1650.short.PubMedGoogle Scholar
  54. Lock, M., & Nguyen, V.-K. (2010). An anthropology of biomedicine. UK: Wiley.Google Scholar
  55. Lupton, D. (1995). The imperative of health: public health and the regulated body. London: Sage Publications Ltd.Google Scholar
  56. Lupton, D. (1999). Risk and sociocultural theory: new directions and perspectives. New York: Cambridge University Press.Google Scholar
  57. Lupton, D., & Tulloch, J. (2002). ‘Life would be pretty dull without riskʼ: voluntary risk-taking and its pleasures. Health Risk Soc, 4, 113–124. doi: 10.1080/13698570220137015.CrossRefGoogle Scholar
  58. Madlensky, L., Esplen, M. J., Gallinger, S., McLaughlin, J. R., & Goel, V. (2003). Relatives of colorectal cancer patients: factors associated with screening behaviour. Am J Prev Med, 25, 187–194. doi: 10.1016/S0749-3797(03)00202-2.PubMedCrossRefGoogle Scholar
  59. Manuel, A. (2013). Constructing the meaning of being at-risk: the experiences of individuals living in families at risk for Arrhythmogenic right ventricular cardiomyopathy in the province of Newfoundland and Labrador: a grounded theory study (Unpublished doctoral dissertation). Newfoundland: Memorial University of Newfoundland.Google Scholar
  60. Marcus, F. I., Fontaine, G. H., Guiraudon, G., Frank, R., Laurenceau, J. L., Malergue, C., & Grosgogeat, Y. (1982). Right ventricular dysplasia: a report of 24 cases. Circulation, 65, 384–398. doi: 10.1161/01.CIR.65.2.384.PubMedCrossRefGoogle Scholar
  61. Marshall, W. H., Furey, M., Larsen, B., Rose, J., Sharratt, G. P., Sussex, B., & Virmani, S. (1988). Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med, 319, 174–175. doi: 10.1056/NEJM198807213190312.CrossRefGoogle Scholar
  62. McAllister, M. (2002). Predictive genetic testing and beyond: a theory of engagement. J Health Psychol, 7, 491–505. doi: 10.1177/1359105302007005628.PubMedCrossRefGoogle Scholar
  63. McAllister, M. (2003). Personal theories of inheritance, coping strategies, risk perception and engagement in hereditary non-polyposis colon cancer families offered genetic testing. Clin Genet, 64, 179–189. doi: 10.1034/j.1399-0004.2003.00133.x.PubMedCrossRefGoogle Scholar
  64. Mead, G. H. (1934). Mind, self, and society. Chicago: University of Chicago Press.Google Scholar
  65. Meiser, B. (2005). Psychological impact of genetic testing for cancer susceptibility: an update of the literature. Psychooncology, 14, 1060–1074. doi: 10.1002/pon.933.PubMedCrossRefGoogle Scholar
  66. Meiser, B., Gaff, C., Julian-Reynier, C., Biesecker, B. B., Esplen, M. J., Vodermaier, A., & Tibben, A. (2007). International perspectives on genetic counseling and testing for breast cancer risk. Breast Dis, 27(1), 109–125. Retrieved from http://iospress.metapress.com/content/y5465m7627n585x6/.Google Scholar
  67. Merner, N. D., Hodgkinson, K. A., Haywood, A. F. M., Connors, S., French, V. M., Drenckhahn, J. D., & Young, T. L. (2008). Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet, 82, 809–821. doi: 10.1016/j.ajhg.2008.01.010.PubMedCentralPubMedCrossRefGoogle Scholar
  68. Michie, S., Bobrow, M., & Marteau, T. M. (2001). Predictive genetic testing in children and adults: a study of emotional impact. J Med Genet, 38, 519–526. Retrieved from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734924/pdf/v038p00519.pdf.PubMedCentralPubMedCrossRefGoogle Scholar
  69. Morse, J. M. (1994). Designing funded qualitative research. In N. K. Denzin & Y. S. Lincoln (Eds.), Handbook of qualitative research (pp. 220–235). Thousand Oaks: Sage.Google Scholar
  70. Nelkin, D. (1992). The rhetoric of scientific revolution. Hastings Cent Rep, 22(4), 38–39.PubMedCrossRefGoogle Scholar
  71. Norris, J., Spelic, S., Snyder, C., & Tinley, S. (2009). Five families living with hereditary breast and ovarian cancer risk. Clin J Oncol Nurs, 13(1), 73–80. doi: 10.1188/09.CJON.73-80.PubMedCrossRefGoogle Scholar
  72. Ozanne, E. M., Wittenberg, E., Garber, J. E., & Weeks, J. C. (2010). Breast cancer prevention: patient decision making and risk communication in the high risk setting. Breast J, 16(1), 38–47. doi: 10.1111/j.1524-4741.2009.00857.x.PubMedCrossRefGoogle Scholar
  73. Parsons, E., & Atkinson, P. (1992). Lay constructions of genetic risk. Sociol Health Illn, 14, 437–55. doi: 10.1111/j.1467-9566.1992.tb00131.x.CrossRefGoogle Scholar
  74. Quaid, K. A., & Morris, M. (1993). Reluctance to undergo predictive testing: the case of Huntington disease. Am J Med Genet, 45, 41–45. doi: 10.1002/ajmg.1320450112.CrossRefGoogle Scholar
  75. Rapp, R. (1999). Testing women, testing the fetus. The social impact of amniocentesis in America. New York: Routledge.Google Scholar
  76. Sanders, T., Campbell, R., Donovan, J., & Sharp, D. (2007). Narrative accounts of hereditary risk: knowledge about family history, lay theories of disease, and “internal” and “external” causation. Qual Health Res, 17, 510–50. doi: 10.1177/1049732306297882.PubMedCrossRefGoogle Scholar
  77. Sherwin, S. (1998). A relational approach to autonomy in health care. In S. Sherwin (Ed.), The politics of women’s health (pp. 19–47). Philadelphia: Temple University Press.Google Scholar
  78. Shiloh, S., & Ilan, S. (2005). To test or not to test? moderators of the relationship between risk perceptions and interest in predictive genetic testing. J Behav Med, 28(5), 467–479. doi: 10.1007/s10865-005-9017-4.PubMedCrossRefGoogle Scholar
  79. Shiloh, S., & Saxe, L. (1989). Perception of risk in genetic counseling. Psychol Health, 3(1), 45–61. doi: 10.1080/08870448908400365.CrossRefGoogle Scholar
  80. Shiloh, S., Gerad, L., & Goldman, B. (2006). Patients’ information needs and decision-making processes: what can be learned from genetic counselees. Health Psychol, 25(2), 211–219. doi: 10.1037/0278-6133.25.2.211.PubMedCrossRefGoogle Scholar
  81. Smart, A. (2010). Impediments to DNA testing and cascade screening for hypertrophic cardiomyopathy and long QT syndrome: a qualitative study of patient experiences. J Genet Couns, 19, 630–639. doi: 10.1007/s10897-010-9314-0.PubMedCrossRefGoogle Scholar
  82. Smets, E. M. A., Stam, M. M. H., Meulenkamp, T. M., van Langen, I. M., Wilde, A. A. M., Wiegman, A., & Tibben, A. (2008). Health-related quality of life of children with a positive carrier status for inherited cardiovascular diseases. Am J Med Genet A, 146A(6), 700–707. doi: 10.1002/ajmg.a.32218.PubMedCrossRefGoogle Scholar
  83. Smith, J. A., Michie, S., Stephenson, M., & Quarrell, O. (2002). Risk perception and decision-making processes in candidates for genetic testing for Huntington’s disease: an interpretative phenomenological analysis. J Health Psychol, 7(2), 131–144. doi: 10.1177/1359105302007002398.PubMedCrossRefGoogle Scholar
  84. Taylor, S. D. (2005). Predictive genetic test decisions for Huntington’s disease: elucidating the test/no-test dichotomy. J Health Psychol, 10, 597–612. doi: 10.1177/1359105305053442.PubMedCrossRefGoogle Scholar
  85. Thiene, G., Nava, A., Corrado, D., Rossi, L., & Pennelli, N. (1988). Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med, 318, 129–133. doi: 10.1056/NEJM198801213180301.PubMedCrossRefGoogle Scholar
  86. Thiene, G., Corrado, D., & Basso, C. (2007). Arrhythmogenic right ventricular cardiomyopathy/dysplasia. Orphanet J Rare Dis, 2(45), 1–16. doi: 10.1186/1750-1172-2-45.Google Scholar
  87. van Oostrom, I., Meijers-Heijboer, H., Lodder, L. N., Duivenvoorden, H. J., van Gool, A. R., Seynaeve, C., & Tibben, A. (2003). Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study. J Clin Oncol, 21, 3867–3874. doi: 10.1200/JCO.2003.10.100.PubMedCrossRefGoogle Scholar
  88. Weiner, K., & Durrington, P. (2008). Patients’ understandings and experiences of familial hypercholesterolemia. Community Genet, 11, 273–282. doi: 10.1159/000121398.PubMedCrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2014

Authors and Affiliations

  1. 1.Faculty of NursingMemorial UniversitySt. John’sCanada
  2. 2.Division of Community Health and Humanities, Faculty of MedicineMemorial UniversitySt. John’sCanada

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