乳腺癌患者血亲亲属对遗传咨询和基因检测意愿的调查  

Survey on the knowledge and willingness of genetic counseling and testing in blood relatives of breast cancer patients

作　　者：成小林[1] 李正东[1] 孙晓寅[1] 梅章懿[1] 庄志刚[1] 

机构地区：[1]同济大学附属第一妇婴保健院乳腺外科,上海200040

出　　处：《复旦学报（医学版）》2017年第3期312-318,共7页Fudan University Journal of Medical Sciences

基　　金：上海市卫生局青年科研项目(20134Y094);上海市科委西医引导类项目(15411964800)~~

摘　　要：目的分析乳腺癌患者血亲亲属对遗传咨询和基因检测的了解和接受意愿。方法 992例乳腺癌患者的血亲亲属配合完成调查表,根据年龄、家庭收入、学历及肿瘤家族病史对数据进行建表分类及统计分析。结果参与完成调查的乳腺癌血亲亲属大多数对遗传咨询和基因检测不了解,但经简单宣教,大多数受调者愿意接受遗传咨询并参与风险评估、筛查。79.8%的受调者愿意接受基因检测,62.3%的受调者愿意进一步参与基因检测相关流程。大多数受调者能接受价格便宜的基因初筛,仅37.9%的受调者能接受价格较高的基因检测。假设基因检测阳性,大多数受调者愿意通过密切随访筛查进行预防,31.3%的受调者愿意选择预防性手术或药物。尽管告知检测结果保密,仍有32.9%的受调者担心不利影响。结论大多数乳腺癌患者的血亲亲属不了解但有明显意愿接受遗传咨询和基因检测,对乳腺癌遗传特点的误解、费用和受歧视的担忧是受调者接受遗传咨询、基因检测和相关预防筛查的主要障碍。Objective To investigate the knowledge and willingness of genetic counseling and testing in blood relatives of breast cancer patients. Methods A total of 922 blood relatives of breast cancer patients finished our questionnaire. Data were devided into different groups according to age, family history of tumor for statistical analysis. Results Most of the respondents were unaware of genetic counseling and genetic testing. However, after a brief introduction, major of them were willing to accept genetic counseling, breast cancer risk evaluation and screening. Specifically, 79. 8% of them were willing to accept genetic counseling, and 62.3% were willing to accept genetic testing. Most of the respondents would accept inexpensive early genetic screening. For the genetic testing with higher prices,only 37.9% of them would accept it. Supposing a positive genetic testing result, most of them were willing to perform prevention through close follow-upscreening, 31.3%of them would choose prophylactic surgery or drugs. Despite being told the confidentiality of the test results, 32.9% of them worried about the adverse effects of genetic test. Conclusions Most of the blood relatives of breastcancer patients were unaware of counseling and genetic testing,but had apparent willingness to accept them. Misunderstanding of genetic characteristics, costs and concerning about discrimination are obstacles for the respondents to accept genetic counseling, genetic testing and related screening prevention.

关 键 词：乳腺癌 血亲亲属 遗传咨询 基因检测 BRCA1/2基因 

分 类 号：R737.9[医药卫生—肿瘤] R730.1[医药卫生—临床医学]