摘要目的：分析乳腺癌患者对遗传咨询和基因检测的了解和接受意愿。方法428例乳腺癌患者配合完成调查表,对数据进行统计分析。结果大多数患者对遗传咨询和基因检测不了解,但经简单介绍后,大多数患者愿意接受,并愿意推荐家系成员参与遗传咨询。当告知基因检测利于患者时,92.1%的愿意接受检测,而当告知检测仅有利于家系成员时,仅33.9%的愿意接受基因检测,后者与年龄、学历和收入相关,差异有统计学意义。此外,愿意进入基因检测流程的比预期意愿低。整体有74.1%的愿意接受价格便宜的基因检测初筛,只有19.2%的愿意接受价格高昂的检测。尽管告知检测结果保密,仍有43.2%的担忧受歧视,其中年轻、低收入家庭和有其他肿瘤史或家族史的患者更加担忧,差异有统计学意义。结论大多数患者不了解但愿意接受遗传咨询和基因检测并推荐家系成员参与。对乳腺癌遗传知识的缺乏、费用和受歧视的担忧是患者接受遗传咨询和基因检测的障碍。需要普及相关知识,建立高危人群的随访筛查制度,争取完善乳腺癌三级预防体系。

abstractsObjective To investigate the knowledge and willingness of breast cancers patients from Shanghai for genetic counseling and gene testing. Methods A total of 428 patients filled out the questionnaire and the data was statistically analyzed.Results Most of the patients were unaware of genetic counseling and gene testing.But after a brief introduction,a majority of them were willing to accept genetic counseling and recommend their family members to participate.The willingness were education- and age-related.When told that gene testing may benefit themselves,92.1% of the patients were willing to be tested.However,when told that gene testing may only benefit their family,only 33.9% of the patients were willing to join the testing.The acceptance was also age-,education- and family income-related.The difference was statistically significant.Moreover,the willingness ratio to participate the gene testing was lower than expected.Overall,74.1% of the patients were willing to accept cheaper preliminary gene screening,whilst only 1 9.2% were willing to accept genetic testing of higher price.Despite of being told that testing results will be maintained as confidential,still 43.2% worried about adverse effects.Such patients tended to younger,from low-income families,with a family history of associated cancers,or personal history of other cancers.The difference was statistically significant.Conclusion The majorities of patients do not know but are willing to accept genetic counseling and gene testing and recommend their family to participate.Lack of genetic knowledge,cost for the testing and concerns about discrimination are the obstacles for patients to participate in genetic counseling and gene testing.To spread the knowledge about breast cancer and establish a follow-up screening system for high-risk population may improve the tertiary prevention for breast cancer.