Burke W, Culver J O, Bowen D, Lowry D, Durfy S, McTiernan A, Andersen M R
Department of Medicine, Fred Hutchinson Cancer Research Center, University of Washington, Seattle 98195, USA.
Am J Med Genet. 2000 Feb 28;90(5):361-8. doi: 10.1002/(sici)1096-8628(20000228)90:5<361::aid-ajmg4>3.0.co;2-8.
Women with a family history of breast cancer often over-estimate their personal risk for cancer and may view themselves as candidates for genetic testing even when the likelihood of an informative test result is low. We report here on genetic counseling of women with an intermediate family history of breast cancer, defined as women who have one or more biological relatives with breast cancer but whose pedigree suggests a low likelihood of autosomal dominant transmission. A genetic counseling protocol based on traditional genetic counseling strategies was developed with additional components added to address the needs of women with moderately increased breast cancer risk. These additional components included information about non-genetic risk factors, comparisons of high and moderate risk pedigrees, and evaluation of personal risk based on both genetic and nongenetic risk factors. Most participants liked the genetic counseling and found it useful. At baseline, participants over-estimated both their personal risk of breast cancer and that of the average woman. After counseling, estimates of personal and average risk of breast cancer were lower, although both remained higher than actual risk. Most participants reported that they felt less worried about breast cancer after receiving their personal-risk estimate. At baseline, most women judged themselves to be candidates for genetic testing and expressed interest in testing. The number who considered themselves candidates for testing was reduced after counseling (60% versus 82%) but still constituted a majority. Similarly, interest in testing was partially reduced by counseling (60% versus 91%). We conclude that genetic counseling can help women with an intermediate family history of breast cancer to develop more accurate views of their risk, reduce their breast cancer worry, and aid some of them in developing a more realistic view of genetic testing.
有乳腺癌家族史的女性往往高估自己患癌的个人风险,即便获得有意义检测结果的可能性很低,她们仍可能认为自己适合进行基因检测。我们在此报告对有中度乳腺癌家族史女性的遗传咨询情况,中度乳腺癌家族史定义为有一个或多个患乳腺癌的生物学亲属但家系显示常染色体显性遗传可能性较低的女性。基于传统遗传咨询策略制定了一份遗传咨询方案,并增加了其他内容以满足乳腺癌风险适度增加女性的需求。这些额外内容包括非遗传风险因素的信息、高风险和中度风险家系的比较,以及基于遗传和非遗传风险因素的个人风险评估。大多数参与者喜欢遗传咨询并认为它有用。在基线时,参与者高估了自己患乳腺癌的个人风险以及普通女性患癌风险。咨询后,对个人和普通乳腺癌风险的估计有所降低,尽管两者仍高于实际风险。大多数参与者报告称,在得到个人风险评估后,她们对乳腺癌的担忧减少了。在基线时,大多数女性认为自己适合进行基因检测并表示有检测意愿。咨询后,认为自己适合检测的人数减少了(从82%降至60%),但仍占多数。同样,咨询后检测意愿也有所降低(从91%降至60%)。我们得出结论,遗传咨询可帮助有中度乳腺癌家族史的女性更准确地认识自身风险,减轻她们对乳腺癌的担忧,并帮助其中一些人对基因检测形成更现实的看法。