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 possi ble to test some people at high risk for inherited mutations to the BRCA1 a nd 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 di d not attend or who received positive results after the focus group were ma iled the questionnaire. Information was sought on the effect of testing on cancer risk perception and worry about cancer, communication of test result s to family members, attitudes toward surveillance and toward prevention op tions, 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 a ttended. Sixteen of the 26 who were mailed the questionnaire completed and returned it. Although cancer risk perception and worry increased after rece ipt 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 mast ectomy. 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 progr ams providing BRCA1 and BRCA2 mutation testing to ensure appropriate pretes t counselling and timely availability of results. Organization of support g roups for people found to have the gene mutations should be a priority for these programs.