Journal of Genetic Counseling

, Volume 15, Issue 6, pp 433–447 | Cite as

Better the Devil You Know? High-Risk Individuals’ Anticipated Psychological Responses to Genetic Testing for Melanoma Susceptibility

  • Nadine A. Kasparian
  • Bettina Meiser
  • Phyllis N. Butow
  • R. F. Soames Job
  • Graham J. Mann
Original Research

Purpose: The psychological consequences of genetic testing for mutations among individuals at increased risk of developing melanoma remain unexamined. The present study aimed to explore anticipated emotional, behavioral, cognitive, and familial responses to hypothetical genetic testing for melanoma susceptibility. Methods: Forty semi-structured interviews were undertaken with affected (n=20) and unaffected (n=20) individuals at either high or average risk of developing melanoma due to family history. Results: In-depth thematic analysis revealed that, in response to being identified as a mutation carrier, most participants with a family history anticipated calmly accepting their increased risk; either increasing precaution adoption or maintaining already vigilant behavioral practices; perceiving such information as important and valuable; and communicating genetic test results to family members, despite the acknowledgement of potential difficulties. In response to being identified as a non-carrier, the majority of participants expected to feel relieved; to maintain current precautionary health practices; to still perceive themselves at some risk of developing melanoma; and to be wary of the potential negative behavioral consequences of disclosing such information to family members. Women appeared more likely than men to acknowledge the potential for depression and worry following genetic testing. In contrast, more males than females expected to carry a gene mutation, and viewed their current preventive practices as optimum. Conclusion: Genetic testing for melanoma risk is likely to elicit a complex array of emotional, behavioral, cognitive, and familial responses for both testees and their family members, and these responses are likely to bear subtle differences for males and females.

KEY WORDS:

predictive genetic testing familial melanoma anticipated psychological impact family communication gender differences 

Notes

ACKNOWLEDGMENTS

We very gratefully acknowledge the generosity of our participants in sharing their experiences. We sincerely thank Dr. Michael Hughes, Mrs. Dianne Pilling, Mrs. Helen Schmid, Mrs. Robyn Dalziell, and Mrs. Barbara Peters for their assistance with participant recruitment. Nadine Kasparian is supported by an Australian Postgraduate Award from the University of Sydney and a Gold Star Award from the University of New South Wales. Bettina Meiser is supported by a Career Development Award from The National Health and Medical Research Council of Australia (ID 350989). Phyllis Butow is supported by a Research Fellowship from the National Health and Medical Research Council of Australia (ID 211199). Genetic epidemiology studies of the cohort have been supported by grants of the National Health and Medical Research Council of Australia (ID 107359, 211172), the state anti-cancer councils of New South Wales, Queensland and Victoria, and the US National Institutes of Health (RO1 83115-01A2).

REFERENCES

  1. Abbey, A., Andrews, F., & Halman, L. (1991). Gender’s role in responses to infertility. Psychol Women Quart, 15, 295–316.CrossRefGoogle Scholar
  2. Aktan-Collan, K., Haukkala, A., Mecklin, J., Uutela, A., & Kaariainen, H. (2001). Psychological consequences of predictive testing for hereditary non-polyposis colorectal cancer (HNPCC): A prospective follow-up study. Int J Cancer, 93, 608–611.PubMedCrossRefGoogle Scholar
  3. Armitage, C., & Conner, M. (2001). Efficacy of the theory of planned behaviour: A meta-analytic review. Br J Soc Psychol, 40(4), 471–499.PubMedCrossRefGoogle Scholar
  4. Armstrong, B. K., & Kricker, A. (2001). The epidemiology of UV induced skin cancer. J Photochem Photobiol B, 63(1–3), 8–18.PubMedCrossRefGoogle Scholar
  5. Arthey, S., & Clarke, V. (1995). Sun tanning and sun protection:A review of the psychological literature. Soc Sci Med, 40(2), 265–274.PubMedCrossRefGoogle Scholar
  6. Autier, P., & Dore, J. F. (1998). Influence of sun exposures during childhood and during adulthood on melanoma risk. Int J Cance,r 77(4), 533–537.PubMedCrossRefGoogle Scholar
  7. Bishop, D., Demenais, F., Goldstein, A., Bergman, W., Newton-Bishop, J., Bressac-dePaillerets, B., et al. (2002). Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Nat Cancer Inst, 94, 894–903.PubMedGoogle Scholar
  8. Botkin, J., Smith, K., Croyle, R., Baty, B., Wylie, J., Dutson, D., et al. (2003). Genetic testing for a BRCA1 mutation: Prophylactic surgery and screening behavior in women 2 years post testing. Am J Med Genet, 118A, 201–209.CrossRefPubMedGoogle Scholar
  9. Brodersen, N. H., Sutton, S., Goff, S., Hodgson, S. V., & Thomas, H. J. (2004). Anticipated reactions to genetic testing for hereditary non-polyposis colorectal cancer susceptibility. Clin Genet, 66(5), 437–444.PubMedCrossRefGoogle Scholar
  10. Byng-Hall, J. (1988). Scripts and legends in families and family therapy. Fam Proc, 27, 167–179.CrossRefGoogle Scholar
  11. Cannon-Albright, L., Meyer, L., Goldgar, D., Lewis, C., McWhorter, W., Jost, M., et al. (1994). Penetrance and expressivity of the chromosome 9p melanoma susceptibility locus (MLM). Cancer Res, 54, 6041–6044.PubMedGoogle Scholar
  12. Claes, E., Denayer, L., Evers-Kiebooms, G., Boogaerts, A., & Legius, E. (2004). Predictive testing for hereditary non-polyposis colorectal cancer: Motivation, illness representation, and short-term psychological impact. Pat Educ Counsel, 55, 265–274.CrossRefGoogle Scholar
  13. Clarke, V., Williams, T., & Arthey, S. (1997). Skin type and optimistic bias in relation to the sun protection and suntanning behaviors of young adults. J Behav Med, 20(2), 207–222.PubMedCrossRefGoogle Scholar
  14. Collins, V., Meiser, B., Gaff, C., St John, D., & Halliday, J. (2005). Screening and preventive behaviors one year after predictive genetic testing for hereditary non-polyposis colorectal carcinoma. Cancer, 104(2), 273–281.PubMedCrossRefGoogle Scholar
  15. Conner, M., & Sparks, P. (1996). The theory of planned behaviour and health behaviours. In M. Conner & P. Norman (Eds.), Predicting health behaviour: research and practice with social cognition models (pp. 121–162). Ballmore, Buckingham: Open University Press.Google Scholar
  16. Croyle, R., Smith, K., Botkin, J., Baty, B., & Nash, J. (1997). Psychological responses to BRCA1 mutation testing: Preliminary findings. Health Psychol, 16(1), 63–72.PubMedCrossRefGoogle Scholar
  17. Decruyenaere, M., Evers-Kiebooms, G., Welkenhuysen, M., Denayer, L., & Claes, E. (2000). Cognitive representations of breast cancer, emotional distress and preventive health behaviour: A theoretical perspective. Psycho-Oncol, 9, 528–536.CrossRefGoogle Scholar
  18. N. Denzin, & Y. Lincoln (Eds.) (1994). Handbook of qualitative research, Dallas, TX: Sage Publications.Google Scholar
  19. Dorval, M., Patenaude, A., Schneider, K., Kieffer, S., DiGianni, L., Kalkbrenner, K., et al. (2000). Anticipated versus actual emotional reactions to disclosure of results of genetic tests for cancer susceptibility: Findings from p53 and BRCA1 testing programs. J Clin Oncol, 18(10), 2135–2142.PubMedGoogle Scholar
  20. Egan, G. (2002). The skilled helper: A problem-management and opportunity-development approach to helping, 7th edn. Pacific Grove, CA: Brooks/Cole Publishing Company.Google Scholar
  21. Foster, C., Eeles, R., Ardern-Jones, A., Moynihan, C., & Watson, M. (2004). Juggling roles and expectations: Dilemmas faced by women talking to relatives about cancer and genetic testing. Psychol Health, 19(4), 439–455.CrossRefGoogle Scholar
  22. Gaff, C., Collins, V., Symes, T., & Halliday, J. (2005). Facilitating family communication about predictive genetic testing: Probands’ perceptions. J Genet Couns, 14(2), 133–140.PubMedCrossRefGoogle Scholar
  23. Goldstein, A., Falk, R., Fraser, M., Dracopoli, N., Sikorski, R., Clark, W. J., et al. (1998). Sun-related risk factors in melanoma-prone families with CDKN2A mutations. J Nat Cancer Inst, 90(9), 709–711.PubMedCrossRefGoogle Scholar
  24. Hallowell, N., Ardern-Jones, A., Eeles, R., Foster, C., Lucassen, A., Moynihan, C., et al. (2005). Communication about genetic testing in families of male BRCA1/2 carriers and non-carriers: Patterns, priorities and problems. Clin Genet, 67(6), 492–502.PubMedCrossRefGoogle Scholar
  25. Hayward, N. (2003). Genetics of melanoma predisposition. Oncogene, 22, 3053–3062.PubMedCrossRefGoogle Scholar
  26. Hill, D., Rassaby, J., & Gardner, G. (1984). Determinants of intentions to take precautions against skin cancer. Comm Health Stud, 8, 33–44.Google Scholar
  27. Holland, E., Schmid, H., Kefford, R., & Mann, G. (1999). CDKN2A (p16INK4a) and CDK4 mutation analysis in 131 Australian melanoma probands: Effect of family history and multiple primary melanomas. Genes Chromosom Cancer, 25, 339–348.PubMedCrossRefGoogle Scholar
  28. Jarvinen, H., Aarnio, M., Mustonen, H., Aktan-Collan, K., Aaltonen, L., Peltomaki, P., et al. (2000). Controlled 15-year trial on screening for colorectal cancer in families with hereditary non-polyposis colorectal cancer. Gastroenterol, 118(5), 829–834.CrossRefGoogle Scholar
  29. Keesling, B., & Friedman, H. (1987). Psychosocial factors in sunbathing and sunscreen use. Health Psychol, 6, 477–493.PubMedCrossRefGoogle Scholar
  30. Kefford, R., & Mann, G. (2003). Is there a role for genetic testing in patients with melanoma? Curr Opin Oncol, 15, 157–161.PubMedCrossRefGoogle Scholar
  31. Kefford, R., Newton-Bishop, J., Bergman, W., & Tucker, M. (1999). Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: A consensus statement of the melanoma genetics consortium. J Clin Oncol, 17(10), 3245–3251.PubMedGoogle Scholar
  32. Keller, M., & Henrich, G. (1999). Illness-related distress: Does it mean the same for men and women? Gender aspects in cancer patients’ distress and adjustment. Acta Oncologica, 38, 747–755.PubMedCrossRefGoogle Scholar
  33. Kenen, R., Ardern-Jones, A., & Eeles, R. (2004). We are talking, but are they listening? Communication patterns in families with a history of breast/ovarian cancer. Psycho-Oncol, 13, 335–345.CrossRefGoogle Scholar
  34. Koh, H., Bak, S., Geller, A., Mangione, T., Hingson, R., Levenson, S., et al. (1997). Sunbathing habits and sunscreen use among white adults: Results of a national survey. Am J Pub Health, 87(7), 1214–1217.PubMedCrossRefGoogle Scholar
  35. Lerman, C., Daly, M., Masny, A., & Balshem, A. (1994). Attitudes about genetic testing for breast-ovarian cancer susceptibility. J Clin Oncol, 12(4), 843–850.PubMedGoogle Scholar
  36. Lerman, C., Hughes, C., Croyle, R., Main, D., Durham, C., Snyder, C., et al. (2000). Prophylactic surgery decisions and surveillance practices one year following BRCA1/2 testing. Prev Med, 31(1), 75–80.PubMedCrossRefGoogle Scholar
  37. Lerman, C., Marshall, J., Audrain, J., & Gomez-Caminero, A. (1996a). Genetic testing for colon cancer susceptibility: Anticipated reactions of patients and challenges to providers. Int J Cancer, 69, 58–61.PubMedCrossRefGoogle Scholar
  38. Lerman, C., Narod, S., Schulman, K., Hughes, C., Gomez-Caminero, A., Bonney, G., et al. (1996b). BRCA1 testing in families with hereditary breast-ovarian cancer: A prospective study of patient decision making and outcomes. JAMA, 275(24), 1885–1892.PubMedCrossRefGoogle Scholar
  39. Lerman, C., Seay, J., Balshem, A., & Audrain, J. (1995). Interest in genetic testing among first-degree relatives of breast cancer patients. Am J Med Genet, 57, 385–392.PubMedCrossRefGoogle Scholar
  40. Leventhal, H., & Cameron, L. (1987). Behavioural theories and the problem of compliance. Pat Educ Counsel, 10, 117– 138.CrossRefGoogle Scholar
  41. Leventhal, H., Diefenbach, M., & Leventhal, E. (1992). Illness cognitions: Using common sense to understand treatment adherence and affect cognition interactions. Cognit Ther Res, 16, 143–163.CrossRefGoogle Scholar
  42. Loader, S., Shields, C., & Rowley, P. (2004). Impact of genetic testing for breast-ovarian cancer susceptibility. Genet Test, 8(1), 1–12.PubMedCrossRefGoogle Scholar
  43. Lodder, L., Frets, P., Trijsburg, R., Meijers-Heijboer, E., Klijn, J., Duivenvoorden, H., et al. (2001). Psychological impact of receiving a BRCA1/BRCA2 test result. Am J Med Genet, 98(1), 15–24.PubMedCrossRefGoogle Scholar
  44. Lodder, L., Frets, P., Trijsburg, R., Meijers-Heijboer, E., Klijn, J., & Niermeijer, M. (2000). Attitudes towards termination of pregnancy in subjects who underwent presymptomatic testing for the BRCA1/BRCA2 gene mutation in The Netherlands. J Med Genet, 37(11), 883–884.PubMedCrossRefGoogle Scholar
  45. Mahlstedt, P. (1985). The psychological component of infertility. Fertil Steril, 43, 335–346.PubMedGoogle Scholar
  46. McCann, S., Stewin, L., & Short, R. (1991). Sex differences, social desirability, masculinity, and tendency to worry. J Genet Psychol, 152, 295–301.PubMedCrossRefGoogle Scholar
  47. McDonough, P., & Walters, V. (2001). Gender and health: Reassessing patterns and explanations. Soc Sci Med, 52, 547–559.PubMedCrossRefGoogle Scholar
  48. Meiser, B., Butow, P., Friedlander, M., Barratt, A., Schnieden, V., Watson, M., et al. (2002). Psychological impact of genetic testing in women from high-risk breast cancer families. Eur J Cancer, 38, 2025–2031.PubMedGoogle Scholar
  49. Meiser, B., Collins, V., Warren, R., Gaff, C., St John, D., Young, M., et al. (2004). Psychological impact of genetic testing for hereditary non-polyposis colorectal cancer. Clin Genet, 66, 502–511.PubMedCrossRefGoogle Scholar
  50. Michie, S., McDonald, V., & Marteau, T. (1996). Understanding responses to predictive genetic testing: A grounded theory approach. Psychol Health, 11(4), 455–470.Google Scholar
  51. Miles, M., & Huberman, A. (1994). Qualitative data analysis: An expanded sourcebook. Sage.Google Scholar
  52. Miller, S. M., & Kirsch, N. (1987). Sex differences in cognitive coping with stress. In R. Barnett, L. Biener, & G. Baruch (Eds.), Gender and Stress. pp. 278–307. New York: Free Press,Google Scholar
  53. Palmer, J., Duffy, D., Box, N., Aitken, J., O’Gorman, L., Green, A., et al. (2000). Melanocortin-1 receptor polymorphisms and risk of melanoma: Is the association explained solely by pigmentation phenotype? Am J Human Genet, 66(1), 176–186.CrossRefGoogle Scholar
  54. Patton, M. (1990). Qualitative evaluation and research method, 2nd edn. Dallas, TX: Sage Publications.Google Scholar
  55. Ptacek, J., Smith, R., & Dodge, K. (1994). Gender differences in coping with stress: When stressor and appraisals do not differ. Pers Soc Psychol Bull, 20(4), 421–430.Google Scholar
  56. Reichelt, J., Heimdal, K., Moller, P., & Dahl, A. (2004). BRCA1 testing with definitive results: A prospective study of psychological distress in a large clinic-based sample. Familial Cancer, 3, 21–28.PubMedCrossRefGoogle Scholar
  57. Riedijk, S., de Snoo, F., van Dijk, S., Bergman, W., van Haeringen, A., Silberg, S., et al. (2005). Hereditary melanoma and predictive genetic testing: Why not? Psycho-Oncol, 14, 738–745.CrossRefGoogle Scholar
  58. Robinson, J., Rademaker, A., Sylvester, J., & Cook, B. (1997a). Knowledge, attitudes, and behaviors of midwest adolescents. Prev Med, 26, 364–372.PubMedCrossRefGoogle Scholar
  59. Robinson, J., Rigel, D., & Amonette, R. (1997b). Trends in sun exposure knowledge, attitudes, and behaviors: 1986 to 1996. J Am Acad Dermatol, 37, 179–186.PubMedCrossRefGoogle Scholar
  60. Scheuer, L., Kauff, N., Robson, M., Kelly, B., Barakat, R., Satagopan, J., et al. (2002). Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. J Clin Oncol, 20(5), 1260–1268.PubMedCrossRefGoogle Scholar
  61. Schwartz, M., Peshkin, B., Hughes, C., Main, D., Isaacs, C., & Lerman, C. (2002). Impact of BRCA1/BRCA2 mutation testing on psychological distress in a clinic-based sample. J Clin Oncol, 20(2), 514–520.PubMedCrossRefGoogle Scholar
  62. Sheeran, P. (2002). Intention-behavior relations: A conceptual and empirical review. Eur Rev Soc Psychol, 12, 1–36.Google Scholar
  63. Smith, K., Ellington, L., Chan, A., Croyle, R., & Botkin, J. (2004). Fertility intentions following testing for a BRCA1 gene mutation. Cancer Epidemiol Biomark Prev, 13(5), 733–740.Google Scholar
  64. Spence, J., Deaux, K., & Helmreich, R. (1985). Sex roles in contemporary American society. In G. Lindzey & E. Aronson (Eds.), Handbook of social psychology (pp. 149–178). New York: Random House.Google Scholar
  65. Stone, A., & Neale, J. (1984). New measure of daily coping: Development and preliminary results. J Pers Soc Psychol, 46, 892–906.CrossRefGoogle Scholar
  66. Struewing, J., Lerman, C., Kase, R., Giambarresi, T., & Tucker, M. (1995). Anticipated uptake and impact of genetic testing in hereditary breast and ovarian cancer families. Cancer Epidemiol Biomark Prev, 4, 169– 173.Google Scholar
  67. Sutton, S. (1998). Predicting and explaining intentions and behavior: How well are we doing? J Appl Soc Psychol, 28(15), 1317–1338.CrossRefGoogle Scholar
  68. Tucker, M., Fraser, M., Goldstein, A., Elder, D., Guerry, D. t., & Organic, S. (1993). The risk of melanoma and other cancers in melanoma-prone families. J Invest Dermatol, 100(3), 350S–355S.PubMedCrossRefGoogle Scholar
  69. van der Velden, P., Sandkuijl, L., Bergman, W., Pavel, S., van Mourik, L., Frants, R., et al. (2001). Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma. Am J Human Genet, 69(4), 774– 779.CrossRefGoogle Scholar
  70. van Ryn, M., Lytle, L., & Kirscht, J. (1996). A test of the theory of planned behaviour for two health-related practices. J Appl Soc Psychol, 26(10), 871–883.CrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2006

Authors and Affiliations

  • Nadine A. Kasparian
    • 1
    • 2
    • 5
  • Bettina Meiser
    • 2
    • 3
  • Phyllis N. Butow
    • 1
  • R. F. Soames Job
    • 1
  • Graham J. Mann
    • 4
  1. 1.Medical Psychology Research Unit, School of PsychologyUniversity of SydneySydneyAustralia
  2. 2.Psychosocial Research Group, Department of Medical OncologyPrince of Wales HospitalSydneyAustralia
  3. 3.School of PsychiatryUniversity of NSWSydneyAustralia
  4. 4.Westmead Institute of Cancer ResearchUniversity of Sydney at Westmead Millennium Institute, WestmeadSydneyAustralia
  5. 5.Psychosocial Research Group, Level 3 Dickinson BuildingPrince of Wales HospitalRandwickAustralia

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