Advertisement

Journal of Genetic Counseling

, Volume 16, Issue 4, pp 527–538 | Cite as

Disclosure of Genetics Research Results after the Death of the Patient Participant: A Qualitative Study of the Impact on Relatives

  • E. Ormondroyd
  • C. Moynihan
  • M. WatsonEmail author
  • C. Foster
  • S. Davolls
  • A. Ardern-Jones
  • R. Eeles
Original Research

When a gene mutation is identified in a research study following the death of the study participant, it is not clear whether such information should be made available to relatives. We report here an evaluation of the impact on relatives of being informed of study results that detected pathogenic BRCA2 mutations in a male relative, now deceased, who had early onset (under the age of 55) prostate cancer. The breast and ovarian cancer risk was unknown to the living relatives. Qualitative analysis of interviews with thirteen relatives indicated that those who had a higher risk perception, resulting from an awareness of cancer family history or experiential knowledge of cancer in their family, tended to adjust more easily to the results. All participants believed that genetics research results of clinical significance should be fed back to relatives. Those who were fully aware of the BRCA2 results and implications for themselves felt they had benefited from the information, irrespective of whether or not they had elected for genetic testing, because of the consequent availability of surveillance programs. Initial anxiety upon learning about the BRCA2 result was alleviated by genetic counselling. Factors influencing those who have not engaged with the information included scepticism related to the relative who attempted to inform them, young age and fear of cancer. Those who had not sought genetic counselling did not attempt further dissemination, and some were not undergoing regular screening. Implications for informed consent in genetics research programs, and the requirement for genetic counselling when research results are disclosed, are discussed.

KEY WORDS:

BRCA2 mutation deceased relative prostate cancer qualitative psychosocial results disclosure; genetic counseling 

Notes

ACKNOWLEDGMENTS

We are grateful to the patients and family members who agreed to participate, and to Amanda Hall, Liz Bancroft and Anna Dowe for their maintenance of and assistance with accessing patient records. They are supported by Cancer Research UK. EO and SD were supported by a grant (Ref. 05/Q0801/46) from Cancer Research UK awarded to MW. RE is supported by the Institute of Cancer Research, AAJ is supported by The Royal Marsden NHS Foundation Trust.

REFERENCES

  1. Alagna, S. W., Morokoff, P. J., Bevett, J. M., & Reddy, D. M. (1987). Performance of breast self-examination by women at high risk for breast cancer. Women Health, 12(2), 29–46.PubMedGoogle Scholar
  2. Biesecker, B. B., Ishibe, N., Hadley, D. W., Giambarresi, T. R., Kase, R. G., Lerman, C., & Struewing, J. P. (2000). Psychosocial factors predicting BRCA1/BRCA2 testing decisions in members of hereditary breast and ovarian cancer families. Am J Med Genet, 93(4), 257–263.Google Scholar
  3. Braithwaite, D., Emery, J., Walter, F., Prevost, A. T., & Sutton, S. (2004). Psychological impact of genetic counselling for familial cancer: A systematic review and meta-analysis. J Natl Cancer Inst, 96(2), 122–133.PubMedGoogle Scholar
  4. Bratt, O., Damber, J. E., Emanuelsson, M., Kristoffersson, U., Lundgren, R., Olsson, H., & Gronberg, H. (2000). Risk perception, screening practice and interest in genetic testing among unaffected men in families with hereditary prostate cancer. Eur J Cancer, 36(2), 235–241.PubMedGoogle Scholar
  5. CancerStats Incidence Cancer Research-UK. info. cancerresearchuk.org/cancerstats/types/prostate/incidence/ accessed 26.11.06Google Scholar
  6. Chalmers, K., & Thomson, K. (1996). Coming to terms with the risk of breast cancer: Perceptions of women with primary relatives with breast cancer. Qual Health Res, 6(2), 256–282.Google Scholar
  7. 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.PubMedGoogle Scholar
  8. Daly, P. A., Nolan, C., Green, A., Ormiston, W., Cody, N., McDevitt, T., O’hIci, B., Byrne, D., McDermott, E., Carney, D. N., O’Higgins, N., & Barton, D. E. (2003). Predictive testing for BRCA1 and 2 mutations: A male contribution. Ann Oncol, 14(4), 549–553.PubMedGoogle Scholar
  9. 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. Psychooncology, 9(6), 528–536.PubMedGoogle Scholar
  10. Deschenes, M., Cardinal, G., Knoppers, B. M., & Glass, K. C. (2001). Human genetic research, DNA banking and consent: A question of ‘form’? Clin Genet, 59(4), 221–239.PubMedGoogle Scholar
  11. Edwards, S. M., Kote-Jarai, Z., Meitz, J., Hamoudi, R., Hope, Q., Osin, P., Jackson, R., Southgate, C., Singh, R., Falconer, A., Dearnaley, D. P., Ardern-Jones, A., Murkin, A., Dowe, A., Kelly, J., Williams, S., Oram, R., Stevens, M., Teare, D. M., Ponder, B. A., Gayther, S. A., Easton, D. F., Eeles, R. A.; Cancer Research UK/British Prostate Group UK Familial Prostate Cancer Study Collaborators; British Association of Urological Surgeons Section of Oncology. (2003). Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene. Am J Hum Genet, 72(1), 1–12.PubMedGoogle Scholar
  12. Eeles, R. A. (1999). Genetic predisposition to prostate cancer. Prostate Cancer Prostatic Dis, 2(1), 9–15.PubMedGoogle Scholar
  13. Evans, D. G., Burnell, L. D., Hopwood, P., & Howell, A. (1993). Perception of risk in women with a family history of breast cancer. Br J Cancer, 67(3), 612–614.PubMedPubMedCentralGoogle Scholar
  14. Foster, C., Evans, D. G., Eeles, R., Eccles, D., Ashley, S., Brooks, L., Davidson, R., Mackay, J., Morrison, P. J., & Watson, M. (2002a). Predictive testing for BRCA1/2: Attributes, risk perception and management in a multi-centre clinical cohort. Br J Cancer, 86(8), 1209–1216.PubMedPubMedCentralGoogle Scholar
  15. Foster, C., Watson, M., Moynihan, C., Ardern-Jones, A., & Eeles, R. (2002b). Genetic testing for breast and ovarian cancer predisposition: Cancer burden and responsibility. J Health Psychol, 7(4), 469–484.Google Scholar
  16. Friedman, L. C., Baer, P. E., Nelson, D. V., Lane, M., Smith, F. E., & Dworkin, R. J. (1988). Women with breast cancer: Perception of family functioning and adjustment to illness. Psychosom Med, 50(5), 529–540.PubMedGoogle Scholar
  17. Hallowell, N., Ardern-Jones, A., Eeles, R., Foster, C., Lucassen, A., Moynihan, C., & Watson, M. (2005a). Communication about genetic testing in families of male BRCA1/2 carriers and non-carriers: Patterns, priorities and problems. Clin Genet, 67(6), 492–502.PubMedGoogle Scholar
  18. Hallowell, N., Ardern-Jones, A., Eeles, R., Foster, C., Lucassen, A., Moynihan, C., & Watson, M. (2005b). Men's decision-making about predictive BRCA1/2 testing: The role of family. J Genet Couns, 14(3), 207–217.PubMedGoogle Scholar
  19. Harper, P. S. (1993). Research samples from families with genetic diseases: A proposed code of conduct. BMJ, 306(6889), 1391–1394.PubMedPubMedCentralGoogle Scholar
  20. Hunter, A. G., Sharpe, N., Mullen, M., & Meschino, W. S. (2001). Ethical, legal, and practical concerns about recontacting patients to inform them of new information: The case in medical genetics. Am J Med Genet, 103(4), 265–276.PubMedGoogle Scholar
  21. Jacobsen, P. B., Lamonde, L. A., Honour, M., Kash, K., Hudson, P. B., & Pow-Sang, J. (2004). Relation of family history of prostate cancer to perceived vulnerability and screening behavior. Psychooncology, 13(2), 80–85.PubMedGoogle Scholar
  22. Janis, I. L., & Feshbach, S. (1953). Effect of fear-arousing communications. J Abnorm Psychol, 48(1), 78–92.PubMedGoogle Scholar
  23. Knoppers, B. M. (2001). Duty to recontact: A legal harbinger? Am J Med Genet, 103(4), 277.PubMedGoogle Scholar
  24. Liede, A., Metcalfe, K., Hanna, D., Hoodfar, E., Snyder, C., Durham, C., Lynch, H. T., & Narod, S. A. (2000). Evaluation of the needs of male carriers of mutations in BRCA1 or BRCA2 who have undergone genetic counselling. Am J Hum Genet, 67(6), 1494–1504.PubMedPubMedCentralGoogle Scholar
  25. MacNeil, S. D., & Fernandez, C. V. (2006). Offering results to research participants. BMJ, 332(7535), 188–189.PubMedPubMedCentralGoogle Scholar
  26. 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(3), 179–189.Google Scholar
  27. Mesters, I., Ausems, M., Eichhorn, S., & Vasen, H. (2005). Informing one's family about genetic testing for hereditary non-polyposis colorectal cancer (HNPCC): A retrospective exploratory study. Fam Cancer, 4(2), 163–167.PubMedGoogle Scholar
  28. Partridge, A. H., Hackett, N., Blood, E., Gelman, R., Joffe, S., Bauer-Wu, S., Knudsen, K., Emmons, K., Collyar, D., Schilsky, R. L., & Winer, E. P. (2004). Oncology physician and nurse practices and attitudes regarding offering clinical trial results to study participants. J Natl Cancer Inst, 96(8), 629–632.PubMedGoogle Scholar
  29. Peterson, S. K., Watts, B. G., Koehly, L. M., Vernon, S. W., Baile, W. F., Kohlmann, W. K., & Gritz, E. R. (2003). How families communicate about HNPCC genetic testing: Findings from a qualitative study. Am J Med Genet C Semin Med Genet, 119(1), 78–86.Google Scholar
  30. Quaid, K. A., Jessup, N. M., & Meslin, E. M. (2004). Disclosure of genetic information obtained through research. Genet Test, 8(3), 347–355.PubMedGoogle Scholar
  31. Reilly, P. R., Boshar, M. F., & Holtzman, S. H. (1997). Ethical issues in genetic research: Disclosure and informed consent. Nat Genet, 15(1), 16–20.PubMedGoogle Scholar
  32. Shalowitz, D. I., & Miller, F. G. (2005). Disclosing individual results of clinical research: Implications of respect for participants. JAMA, 294(6), 737–740.PubMedGoogle Scholar
  33. Smith, J. A., Jarman, M., & Osborn, M. (1999). Doing interpretative phenomenological analysis. In Murray, M., & Chamberlain, K. (eds). Qualitative Health Psychology: Theories and Methods. London: Sage.Google Scholar
  34. UK Human Genetics Commission document Whose Hands on Your Genes (2001), available at: http://www.hgc.gov.uk/Google Scholar
  35. UK Human Genetics Commission document Inside Information: Balancing Interests in the Use of Personal Genetic Data, available at: http://www.hgc.gov.uk/Google Scholar
  36. Walter, F. M., & Emery, J. (2005). ‘Coming down the line—patients’ understanding of their family history of common chronic disease. Ann Fam Med, 3(5), 405–414.PubMedPubMedCentralGoogle Scholar
  37. Watson, M., Lloyd, S., Davidson, J., Meyer, L., Eeles, R., Ebbs, S., & Murday, V. (1999). The impact of genetic counselling on risk perception and mental health in women with a family history of breast cancer. Br J Cancer, 79(5–6), 868–874.PubMedPubMedCentralGoogle Scholar
  38. Watson, M., St James-Roberts, I., Ashley, S., Tilney, C., Brougham, B., Edwards, L., Baldus, C., & Romer, G. (2006). Factors associated with emotional and behavioural problems among school age children of breast cancer patients. Br J Cancer, 94, 43–50.PubMedPubMedCentralGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • E. Ormondroyd
    • 1
  • C. Moynihan
    • 1
  • M. Watson
    • 1
    • 2
    Email author
  • C. Foster
    • 3
  • S. Davolls
    • 1
  • A. Ardern-Jones
    • 4
  • R. Eeles
    • 4
    • 5
  1. 1.Psychology Research GroupInstitute of Cancer ResearchSuttonUK
  2. 2.Psychological MedicineRoyal Marsden NHS Foundation TrustSuttonUK
  3. 3.Macmillan Research Unit, School of Nursing and MidwiferyUniversity of SouthamptonSouthamptonUK
  4. 4.Cancer Genetics UnitRoyal Marsden NHS Foundation TrustSuttonUK
  5. 5.Translational Cancer Genetics TeamInstitute of Cancer ResearchSuttonUK

Personalised recommendations