Mikkelsen Ellen M, Sunde Lone, Johansen Christoffer, Johnsen Søren P
Department of Clinical Epidemiology, Aarhus University Hospital (EMM, SPJ), Denmark.
Cancer Detect Prev. 2007;31(6):457-64. doi: 10.1016/j.cdp.2007.10.013.
We aimed to explore the impact of genetic counseling on perceived personal lifetime risk of breast cancer, the accuracy of risk perception, and possible predictors of inaccurate risk perception 1 year following counseling.
We conducted a population-based prospective follow-up study of 213 women who received genetic counseling for hereditary breast and ovarian cancer, 319 women who underwent mammography (Reference Group I), and a random sample of 1070 women from the general population (Reference Group II).
Women who received genetic counseling decreased their perceived risk by an average of 6.6 percentage points (95% CI: 3.0%; 10.2%) between baseline and 12 months of follow-up. In contrast, perceived risk remained relatively stable in the reference groups. The proportion of women who accurately perceived their risk increased by 16% in the group receiving genetic counseling, compared to a reduction of 5% (p=0.03) and 2% (p=0.01) in Reference Groups I and II, respectively. Risk communicated only in words, inaccurate risk perception at baseline, and presence of a familial mutation appeared to be predictors of inaccurate risk perception 12 months after counseling.
This population-based study of women with a family history of breast or ovarian cancer indicates that genetic counseling can help them both to reduce their perceived risk and to achieve a more realistic view of their risk of developing breast cancer.
我们旨在探讨遗传咨询对乳腺癌个人终生风险感知、风险感知准确性以及咨询后1年风险感知不准确的可能预测因素的影响。
我们对213名接受遗传性乳腺癌和卵巢癌遗传咨询的女性、319名接受乳房X光检查的女性（参照组I）以及从普通人群中随机抽取的1070名女性（参照组II）进行了基于人群的前瞻性随访研究。
接受遗传咨询的女性在基线至随访12个月期间，其感知风险平均降低了6.6个百分点（95%置信区间：3.0%；10.2%）。相比之下，参照组的感知风险保持相对稳定。在接受遗传咨询的组中，准确感知自身风险的女性比例增加了16%，而参照组I和参照组II中这一比例分别降低了5%（p = 0.03）和2%（p = 0.01）。仅通过言语传达风险、基线时风险感知不准确以及存在家族突变似乎是咨询后12个月风险感知不准确的预测因素。
这项针对有乳腺癌或卵巢癌家族史女性的基于人群的研究表明，遗传咨询可以帮助她们降低感知风险，并对患乳腺癌的风险形成更现实的看法。
