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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
REFERENCES
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.
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.
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.
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.
CancerStats Incidence Cancer Research-UK. info. cancerresearchuk.org/cancerstats/types/prostate/incidence/ accessed 26.11.06
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.
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.
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.
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.
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.
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.
Eeles, R. A. (1999). Genetic predisposition to prostate cancer. Prostate Cancer Prostatic Dis, 2(1), 9–15.
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.
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.
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.
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.
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.
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.
Harper, P. S. (1993). Research samples from families with genetic diseases: A proposed code of conduct. BMJ, 306(6889), 1391–1394.
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.
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.
Janis, I. L., & Feshbach, S. (1953). Effect of fear-arousing communications. J Abnorm Psychol, 48(1), 78–92.
Knoppers, B. M. (2001). Duty to recontact: A legal harbinger? Am J Med Genet, 103(4), 277.
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.
MacNeil, S. D., & Fernandez, C. V. (2006). Offering results to research participants. BMJ, 332(7535), 188–189.
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.
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.
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.
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.
Quaid, K. A., Jessup, N. M., & Meslin, E. M. (2004). Disclosure of genetic information obtained through research. Genet Test, 8(3), 347–355.
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.
Shalowitz, D. I., & Miller, F. G. (2005). Disclosing individual results of clinical research: Implications of respect for participants. JAMA, 294(6), 737–740.
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.
UK Human Genetics Commission document Whose Hands on Your Genes (2001), available at: http://www.hgc.gov.uk/
UK Human Genetics Commission document Inside Information: Balancing Interests in the Use of Personal Genetic Data, available at: http://www.hgc.gov.uk/
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.
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.
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.
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.
Author information
Authors and Affiliations
Corresponding author
Additional information
Names have been changed to protect the privacy of study participants.
APPENDIX—LETTER TO DECEASED RESEARCH PARTICIPANT’S WIFE
APPENDIX—LETTER TO DECEASED RESEARCH PARTICIPANT’S WIFE
Dear
Re: UK Familial Prostate Cancer Study
We were very sorry to hear from your GP, Dr…, that your husband has sadly died. You may remember that some time ago he very kindly helped in a prostate cancer research project, and, as a result of the findings in this large study, we have discovered that there are some genetic alterations that may account for the development of prostate cancer. We have written to your husband's GP, who has kindly agreed that we may write to you.
Until now all the work has been research based and the individual results have not been available to those taking part.
We are now in a position to discuss the findings of the research study and families may be interested in finding out how this may be relevant to your family. You may prefer to visit a local geneticist and if you wish to do this, your GP can arrange to refer you to the nearest clinic. Alternatively, we are very happy to receive such a referral.
We would be most grateful if you would kindly complete the enclosed form indicating whether or not you wish to follow this up further and return it to me in the enclosed SAE. If you would like to talk to our clinical Nurse Specialist on telephone number…
Yours sincerely
Rights and permissions
About this article
Cite this article
Ormondroyd, E., Moynihan, C., Watson, M. et al. Disclosure of Genetics Research Results after the Death of the Patient Participant: A Qualitative Study of the Impact on Relatives. J Genet Counsel 16, 527–538 (2007). https://doi.org/10.1007/s10897-007-9088-1
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10897-007-9088-1