Metcalfe K A, Liede A, Hoodfar E, Scott A, Foulkes W D, Narod S A
Centre for Research in Women's Health, University of Toronto, 790 Bay Street, Suite 750A, Toronto, Ontario M5G 1N8, Canada.
J Med Genet. 2000 Nov;37(11):866-74. doi: 10.1136/jmg.37.11.866.
The discovery of the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 has improved our ability to counsel women at increased risk of developing breast and ovarian cancer. The objective of our study was to identify the needs of women who have undergone genetic counselling and testing for BRCA1/2 and to determine the impact of receiving a positive BRCA1/2 result. This is the first study to report on a large group of women who have received positive BRCA1/2 mutation results.
Questionnaires were distributed to 105 women who had received pre- and post-test genetic counselling for a positive BRCA1/2 result at the University of Toronto or at McGill University in Montreal, Canada between the years of 1994 and 1998. The questionnaire items included patient motivation for seeking genetic services, information needs, screening and prophylactic surgery practices, satisfaction with access to services and support, the desire for a support group, and overall client satisfaction.
Seventy nine female carriers were surveyed. The majority of the respondents (77%) were satisfied with the information they received during the genetic counselling process. Women with a previous diagnosis of cancer indicated that they needed more information relating to cancer treatment compared to women without cancer (p=0.05). Nineteen percent of the women felt they needed more support than was received. Fifty eight percent of the women reported that their screening practices had changed since they received their result. Young women (below the age of 50) and women with no previous diagnosis of cancer were most likely to have changed their screening practices. Nearly two thirds of the respondents said they had considered prophylactic surgery of the breasts or ovaries. Twenty eight percent of the women had prophylactic mastectomy and 54% had undergone prophylactic oophorectomy. Women with an educational level of high school or more were more likely to have undergone prophylactic bilateral mastectomy than those with less education (p=0.07) but were less likely to undergo prophylactic oophorectomy (p=0.0007).
These findings have a direct impact on the counselling and risk management of female BRCA mutation carriers. Age, education, and a previous diagnosis of cancer are important determinants in a woman's decision making after receiving positive genetic test results.
乳腺癌和卵巢癌易感基因BRCA1和BRCA2的发现提高了我们为患乳腺癌和卵巢癌风险增加的女性提供咨询的能力。我们研究的目的是确定接受BRCA1/2基因咨询和检测的女性的需求，并确定BRCA1/2检测结果为阳性的影响。这是第一项报告大量BRCA1/2突变检测结果为阳性的女性情况的研究。
1994年至1998年间，向105名在加拿大多伦多大学或蒙特利尔麦吉尔大学因BRCA1/2检测结果为阳性而接受检测前和检测后基因咨询的女性发放问卷。问卷项目包括患者寻求基因服务的动机、信息需求、筛查和预防性手术情况、对服务和支持的满意度、对支持小组的需求以及总体客户满意度。
对79名女性携带者进行了调查。大多数受访者（77%）对基因咨询过程中获得的信息感到满意。与未患癌症的女性相比，之前被诊断患有癌症的女性表示她们需要更多与癌症治疗相关的信息（p=0.05）。19%的女性觉得她们需要的支持比所得到的更多。58%的女性报告称，自收到检测结果以来她们的筛查方式发生了改变。年轻女性（50岁以下）和之前未被诊断患有癌症的女性最有可能改变她们的筛查方式。近三分之二的受访者表示她们考虑过进行乳房或卵巢的预防性手术。28%的女性进行了预防性乳房切除术，54%的女性接受了预防性卵巢切除术。高中及以上学历的女性比学历较低的女性更有可能接受双侧预防性乳房切除术（p=0.07），但接受预防性卵巢切除术的可能性较小（p=0.0007）。
这些发现对女性BRCA突变携带者的咨询和风险管理有直接影响。年龄、教育程度和之前的癌症诊断是女性在基因检测结果为阳性后决策的重要决定因素。
