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Disclosure of genetics research results after the death of the patient participant: a qualitative study of the impact on relatives

Disclosure of genetics research results after the death of the patient participant: a qualitative study of the impact on relatives
Disclosure of genetics research results after the death of the patient participant: a qualitative study of the impact on relatives
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.
brca2 mutation, deceased relative, prostate cancer, qualitative, psychosocial, results disclosure, genetic counseling
1059-7700
527-538
Ormondroyd, E.
2617b57e-d9e8-48e8-b3ce-5c0ac4720aa9
Moynihan, C.
be73d33e-3235-4079-b01e-472d7a44740a
Watson, M.
168c5230-279a-4c51-9065-eefcd18191fa
Foster, C.
00786ac1-bd47-4aeb-a0e2-40e058695b73
Davolls, S.
e796c4cf-9985-4866-b0ae-44bff79c61fd
Hall, A.
d264326c-a622-4418-b1c4-024867eb9218
Ardern-Jones, A.
615ce40c-596a-4b29-9578-13bf644aa3e0
Eeles, R.
c7ae2359-6f49-4f42-88f8-a241570f9d4f
Ormondroyd, E.
2617b57e-d9e8-48e8-b3ce-5c0ac4720aa9
Moynihan, C.
be73d33e-3235-4079-b01e-472d7a44740a
Watson, M.
168c5230-279a-4c51-9065-eefcd18191fa
Foster, C.
00786ac1-bd47-4aeb-a0e2-40e058695b73
Davolls, S.
e796c4cf-9985-4866-b0ae-44bff79c61fd
Hall, A.
d264326c-a622-4418-b1c4-024867eb9218
Ardern-Jones, A.
615ce40c-596a-4b29-9578-13bf644aa3e0
Eeles, R.
c7ae2359-6f49-4f42-88f8-a241570f9d4f

Ormondroyd, E., Moynihan, C., Watson, M., Foster, C., Davolls, S., Hall, A., Ardern-Jones, A. and Eeles, R. (2007) Disclosure of genetics research results after the death of the patient participant: a qualitative study of the impact on relatives. Journal of Genetic Counseling, 16 (4), 527-538. (doi:10.1007/s10897-007-9088-1). (PMID:17492498)

Record type: Article

Abstract

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.

Full text not available from this repository.

More information

e-pub ahead of print date: 11 May 2007
Published date: August 2007
Keywords: brca2 mutation, deceased relative, prostate cancer, qualitative, psychosocial, results disclosure, genetic counseling
Organisations: Faculty of Health Sciences

Identifiers

Local EPrints ID: 63986
URI: http://eprints.soton.ac.uk/id/eprint/63986
ISSN: 1059-7700
PURE UUID: faf9eea8-a7a5-4b5e-99e2-7e7ef990ea68
ORCID for C. Foster: ORCID iD orcid.org/0000-0002-4703-8378

Catalogue record

Date deposited: 21 Nov 2008
Last modified: 17 Dec 2019 01:47

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