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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Psychosocial issues following a positive result of genetic testing for BRCA1 and BRCA2 mutations: findings from a focus group and a needs-assessment survey.

BACKGROUND: About 5% of cases of breast cancer and 10% of cases of ovarian cancer are due to an inherited predisposition. Since 1994 it has been possible to test some people at high risk for inherited mutations to the BRCA1 and BRCA2 genes. The purpose of our study was to explore how genetic testing had affected people found to have a BRCA mutation and their families, and to determine whether there was interest in a peer-support group. METHODS: All people given positive results of genetic testing for BRCA1 and BRCA2 mutations at either of 2 familial breast cancer clinics were invited to participate in a focus group and complete a questionnaire. Those who did not attend or who received positive results after the focus group were mailed the questionnaire. Information was sought on the effect of testing on cancer risk perception and worry about cancer, communication of test results to family members, attitudes toward surveillance and toward prevention options, satisfaction with clinical services, need for additional support and satisfaction with decision to undergo testing. RESULTS: Eight of the 27 people invited to participate in the focus group attended. Sixteen of the 26 who were mailed the questionnaire completed and returned it. Although cancer risk perception and worry increased after receipt of the test results, the participants did not regret their decision to undergo testing. Confidence in the efficacy of cancer surveillance was high. Prophylactic oophorectomy was much more acceptable than prophylactic mastectomy. Almost all (92% [22/24]) were satisfied with the clinical services they had received; however, all were dissatisfied with the lengthy wait for test results. Nine (38%) of the participants felt they would benefit from a support group. INTERPRETATION: Adequate resources must be made available to clinical programs providing BRCA1 and BRCA2 mutation testing to ensure appropriate pretest counselling and timely availability of results. Organization of support groups for people found to have the gene mutations should be a priority for these programs.[1]


  1. Psychosocial issues following a positive result of genetic testing for BRCA1 and BRCA2 mutations: findings from a focus group and a needs-assessment survey. Di Prospero, L.S., Seminsky, M., Honeyford, J., Doan, B., Franssen, E., Meschino, W., Chart, P., Warner, E. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne. (2001) [Pubmed]
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