Purpose: Little is known about reasons why eligible breast cancer patients decline BRCA mutation testing. They may withdraw at different stages during genetic counseling for different reasons. We prospectively studied perceived benefits and barriers to genetic counseling and BRCA testing in 102 newly diagnosed breast cancer patients approached for genetic counseling at the start of radiotherapy. Methods: Patients completed questionnaires and participated in interviews at different stages of the counseling protocol. Results: Participation was not influenced by distress, knowledge about hereditary breast cancer, previous genetic testing in relatives, or perceived risks and barriers. Immediate decliners (n ϭ 23) do not believe genetic testing is relevant for them.Patients who decline after pedigree compilation (n ϭ 14) are more hesitant and anxious about the influence of the test result on their future often wishing to postpone further testing. Late decliners (n ϭ 7) withdraw afraid of the test result and/or after a relative's objection. These decliners are not easily identified upon approach because they are similar to patients who receive a DNA test result (n ϭ 58). Notwithstanding their decline, 81% agreed to the timing or would have preferred an earlier approach for genetic counseling. Conclusion: Decliners may make more informed decisions after tailored health education, including adequate risk information. Genet Med 2007:9(11):766 -777. Key Words: genetic testing, participation, decline, barriers, breast cancer patientsWomen from high-risk families can obtain risk estimations for breast and ovarian cancer through BRCA1/2 mutation testing. Carrying a BRCA1/2 gene mutation increases one's lifetime risk of developing breast and/or ovarian cancer compared with the general population. 1 The most noted benefits of testing for mutations are: (1) to obtain breast cancer risk information for one's self and family members, particularly any children, (2) to learn about ovarian cancer risk, (3) to obtain certainty, and (4) to make more informed decisions about prophylactic mastectomy and prophylactic oophorectomy. [2][3][4][5][6][7][8] Despite these evident benefits, not all eligible individuals choose to participate in genetic counseling and BRCA1/2 testing.The uptake of presymptomatic testing is higher in persons of higher socioeconomic status, who have health insurance, who show a higher knowledge about DNA testing, who perceive the benefits as important, and who have more relatives affected by breast cancer. 3 In addition, Biesecker et al. 9 found that members of families with an identified BRCA mutation were more likely to have genetic testing when they become old (Ͼ40 years), married, and if there was a higher level of family cohesiveness. In these families, cancer-specific distress and worry play a significant role in the choice to test for BRCA1 mutations 2,10 as does a greater perceived risk of being a mutation carrier and of developing breast or ovarian cancer, and the perception that the advantages of BRCA tes...

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The psychological reactions of 22 parental couples and 3 single parents were investigated after disclosure of genetic test results of their children. The children were tested for the early-onset, monogenetic cancer disorder multiple endocrine neoplasia type 2. Participants came from 13 different families and were aged between 28 and 47 years. Parents who were informed that their child was a gene carrier reacted with resignation, showed moderate to high levels of test-related and general anxiety, but few psychological complaints. Daily activities were disturbed in 43% of the parents with carrier-children. There was little disruption of the parents' future perspective, apart from some socioeconomic disadvantages and increased parental concern for the carrier-children. Most parents with carrier-children showed restraint with respect to short-term prophylactic treatment. Parents with favorable test results showed significantly less anxiety and no disturbance in their daily activities. They did not, however, seem to be reassured by the DNA test result. These parents questioned the reliability of the DNA test, wanted confirmation of the test results, and were eager to continue screening of their noncarrier children. Parents, especially those with a lower level of education and/or a pessimistic view of the future, were distressed by unfavorable test results. Additional counseling is advised to prevent parents of carrier-children worrying unnecessarily, or parents with children in whom the disease gene was not found being not reassured. Am. J. Med. Genet. 94:316-323, 2000.