医疗工作者对妇科肿瘤遗传咨询和检测倾向的问卷调查

摘要

Objective:To analyze the opinions and suggestions of Chinese healthcare providers towards genetic counseling and testing for gynecologic oncology by questionnaire survey.Methods:By printed and WeChat produced questionnaire,among trainees from a training class of genetic counseling for oncology,we investigated general characters of participants,opinion and suggestion on hereditary ovarian cancer and Lynch syndrome associated endometrial cancer.The differences and trend of the opinion and suggestion were described,and the influence of participants' characteristics on these perceptions was analyzed.Results:Among 98 registered trainees,76 responded the questionnaire.Most of them are certified gynecologist(77.6 ％)with postgraduate qualifications(77.6 ％)and being age of 30-50 years(77.6 ％).The responses to most items of questionnaire had no uniform agreements.Most accepted opinions(more than 66.7％ participants agreed)included:genetic testing for hereditary ovarian cancer should be based on personal and/or family history of cancer (94.7％ participants of all);pedigree validation of hereditary ovarian cancer should not distinguish gender(68.4 ％);prophylactic medicine should be given to carriers of pathogenic mutation of BRCA1/2 to reduce the risk of breast cancer(75.0％);screening and testing among endometrial cancer for Lynch syndrome should be carried out selectively (69.7 ％)and based on personal and/or family history of cancer(86.8％).Conclusions:In our questionnaire survey,Chinese healthcare provides including gynecologists had great divergences on the opinion and suggestion about genetic counseling and testing for gynecologic oncology,which are also significantly different with the requirement and commendation of the guideline and consensus.%目的 通过问卷调查分析中国医疗工作者对妇科肿瘤遗传咨询和检测的观点和建议. 方法 在肿瘤遗传咨询培训班的学员中通过书面和微信问卷调查参与者的一般特点,以及对遗传性卵巢癌和Lynch综合征相关内膜癌的看法和倾向.分析这些看法的趋势和比例,以及参与者特征对这些看法的影响. 结果 在注册的98位学员中,总计76人(77.6％)回应了问卷.大部分参与者为妇产科执业医师(77.6％)、研究生学历(77.6％)且在30～50岁间(77.6％).参与者对大部分问题的选择存在异质性,认同度≥66.7％的观点包括:应该根据家族史和(或)个人史选择患者进行遗传性卵巢癌的遗传检测(94.7％);遗传性卵巢癌家系验证不应区分性别(68.4％);对于BRCA1/2致病突变携带者应进行预防性药物治疗以降低乳腺癌风险(75.0％);应该选择性进行内膜癌相关Lynch综合征的筛查和检测(69.7％),主要是根据家族史和(或)个人史(86.8％). 结论 调查研究显示,妇产科医师在内的中国医疗工作者对于妇科肿瘤遗传咨询和检测的观点和建议分歧较大,与指南和共识的要求和推荐也存在重大差异.