| 摘要: |
| 目的 评估患者对妇科肿瘤遗传咨询的认知、态度及其影响因素，以提高遗传咨询效率、推动遗传咨询工作的开展。方法 以2020年3月25日至2021年3月26日就诊于复旦大学附属妇产科医院妇科肿瘤遗传咨询门诊的患者为调查对象，基于临床诊疗、患者反馈及文献阅读设计调查问卷，调查患者的一般情况及对遗传咨询的认知和态度。根据患者一般情况进行分组，分析影响患者对妇科肿瘤遗传咨询认知水平和态度的因素。结果 本次调查共回收有效问卷104份。36例（34.6%）患者表示在就诊前“没有顾虑，坦然面对”，患有恶性肿瘤的患者较患有子宫内膜不典型增生者、接受根治性手术治疗的患者较接受保育治疗者更能坦然面对遗传咨询（P=0.048、0.008）。其余患者均对遗传咨询存在顾虑，无个人肿瘤病史的患者比有个人肿瘤史的患者更害怕检出遗传性突变（P=0.017），来自较发达地区的患者比来自欠发达地区的患者对可能罹患遗传性疾病有更多的焦虑情绪（P=0.013），已生育的患者比未生育的患者更担心自己患其他系统肿瘤的风险增加（P=0.008）。74例（71.1%）患者希望通过遗传咨询明确所患疾病是否为家族遗传性，文化程度较高的患者比文化程度较低的患者、有肿瘤家族史的患者比无肿瘤家族史的患者更希望明确所患疾病是否为家族遗传性（P=0.024、0.009）。52例（50.0%）患者希望了解如果有遗传性疾病是否可以对自己的后代进行有效预防，文化程度较高的患者比文化程度较低的患者、接受保育治疗的患者比接受根治性手术治疗的患者、有生育要求的患者比无生育要求的患者更希望了解如果有遗传性疾病是否可对后代进行有效预防（P=0.002、0.018、0.003）。共25例患者检出携带胚系致病性或可疑致病性突变，经过门诊的报告解读后，19例（76.0%）患者表示“了解其他系统发生肿瘤的风险会增加，应早期筛查”，14例（56.0%）患者认同检出基因突变可针对性地进行早期干预，10例（40.0%）患者认同有生育意愿者可通过第三代试管婴儿进行遗传阻断，13例（52.0%）患者认同基因检测结果能提示预后及靶向治疗方案，仅7例（28.0%）患者表示“知道如何进行其他系统肿瘤的早期筛查”。结论 患者文化程度、所在地域经济发展水平、疾病类型、治疗方法、肿瘤家族史、个人肿瘤病史、是否生育和是否有生育要求均可影响患者对遗传咨询的态度。在一次遗传咨询后，存在胚系致病性或可疑致病性突变的患者对疾病的了解及相关系统疾病筛查和家族遗传风险管理的理解并不满意。 |
| 关键词: 遗传咨询 遗传性肿瘤综合征 基因检测 女性生殖器肿瘤 |
| DOI：10.16781/j.0258-879x.2021.06.0641 |
| 投稿时间：2021-05-14修订日期：2021-06-01 |
| 基金项目:上海申康医院发展中心临床三年行动计划（SHDC2020CR4079），国家自然科学基金面上项目（81772777），上海市科学技术委员会医学引导项目（18411963700），上海市浦江人才计划（17PJ1401400），上海市“医苑新星”青年医学人才培养资助计划-杰出青年医学人才项目（SHWJRS2021-99）. |
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| Questionnaire survey on status quo of genetic counseling on gynecologic tumors |
| XUE Yu1△,SHI Yue2△,XU Yan2,XU Zhi-ying2,CHEN Xiao-jun2,WANG Chao2* |
(1. School of Clinical Medicine, Shanghai Medical College, Fudan University, Shanghai 200032, China;
2. Department of Gynecological Oncology, Obstetrics & Gynecology Hospital of Fudan University, Shanghai 200090, China
△Co-first authors.
* Corresponding author) |
| Abstract: |
| Objective To evaluate patients’ cognition, attitude and influencing factors of genetic counseling on gynecologic tumor, so as to improve its efficiency and implementation. Methods Patients who visited the Clinic of Genetic Counseling of the Department of Gynecological Oncology, Obstetrics & Gynecology Hospital of Fudan University from Mar. 25, 2020 to Mar. 26, 2021 were enrolled. Based on clinical practice, patient feedback and literature reading, a questionnaire survey was designed to analyze the general information and patients’ cognition and attitude towards genetic counseling. Patients were classified according to their general characteristics to analyze the potential factors affecting their cognition and attitude. Results A total of 104 valid questionnaires were collected. Thirty-six patients (34.6%) “felt well enough” before genetic counseling, patients with malignant tumors were more likely to accept genetic counseling than those with endometrial atypical hyperplasia (P=0.048), and those with radical surgery were more likely to accept genetic counseling than those with fertility-preserving treatment (P=0.008). Other patients had various concerns about genetic counseling, and patients without a past history of cancer were more afraid of detected with gene mutations (P=0.017). Patients from developed areas were more anxious about the potential genetic diseases than those from developing areas (P=0.013). Parous patients were more worried about the increased risk of other tumors than nulliparous women (P=0.008). Seventy-four patients (71.1%) wanted to know whether the disease was hereditary through genetic counseling. Patients with higher education level and with positive family history of cancer wanted to know whether the disease was hereditary more than patients with lower education level (P=0.024) and without family history of cancer (P=0.009). Fifty-two patients (50.0%) wanted to know whether their offspring could be effectively prevented if they had genetic diseases, while patient with higher education level (P=0.002), with fertility-preserving treatment (P=0.018), and with demand of fertility preservation (P=0.003) were more eager to know that. A total of 25 patients had germline pathogenic or suspected pathogenic gene mutations. After genetic counseling, 19 patients (76.0%) understood that screening tests should be done as the risk of cancer in other systems increased, 14 patients (56.0%) agreed early intervention could be taken once gene mutation was reported, 10 patients (40.0%) agreed that preimplantation genetic testing (PGT) could be used for genetic block in patients who wanted to have children, 13 patients (52.0%) agreed that the results of genetic test could indicate the disease prognosis and therapeutic targets for further therapy, and only 7 patients (28.0%) knew the measures for early screening of other systems. Conclusion Education, areas, disease type, treatment, family history of cancer, history of cancer, obstetric history and demand of fertility preservation can affect patients’ attitude towards genetic counseling. However, the understanding of the diseases and the related system screening and family genetic risk management are not satisfying among patients with germline pathogenic or suspected pathogenic gene mutations after a genetic counseling. |
| Key words: genetic counseling hereditary neoplastic syndromes genetic testing female genital neoplasms |
