Current status of knowledge, diagnosis and management of hereditary colorectal cancer among physicians in China: a national questionnaire survey of 81 doctors from different hospitals.

IF 2.1 4区 医学 Q3 GENETICS & HEREDITY
Baoshuai Liu, Juan Li, Guorong Wang, Changhua Zhuo, Xiaohong Yang, Nanxin Zheng, Cheng Xin, Hongli Yan, Wei Zhang, Xian Hua Gao
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Abstract

Hereditary colorectal cancer (HCRC), including Lynch syndrome (LS) and familial adenomatous polyposis (FAP), accounts for 5-10% of colorectal cancers (CRC); however, little is known about physicians' awareness and management of these conditions in China. We conducted a nationwide cross-sectional survey of 81 physicians from 81 Chinese hospitals using a 74-item questionnaire assessing genetic testing, pedigree management, and LS/FAP protocols. The mean annual CRC caseload was 1093 per hospital, in stark contrast to only 32 HCRC cases. The LS diagnosis rate was alarmingly low (0.83% vs. expected 2-3%). Although 95.1% of hospitals offered dMMR immunohistochemistry, only 85.3% of CRC patients received it. Genetic testing completion rates were poor: 74.1% and 76.5% of hospitals reported 0-25% completion for suspected HCRC patients and first-degree relatives, respectively. Major barriers included high costs (93.8%), lack of insurance coverage (75.3%), and patient refusal (51.9%). Fewer than one-third of centers adhered to National Comprehensive Cancer Network (NCCN) guidelines. Only 8.6% incorporated risk-reducing hysterectomy and bilateral salpingo-oophorectomy into standard practice. Merely 13.6% maintained family management systems, 23.5% employed genetic counselors, and 46.9% had received HCRC training. HCRC diagnosis and management in China are inadequate, with substantial guideline-practice gaps. Urgent interventions are needed to improve physician education, reduce financial barriers, and implement standardized protocols.

中国医师对遗传性结直肠癌的知识、诊断和管理现状:对81名来自不同医院的医生进行问卷调查。
遗传性结直肠癌(HCRC),包括Lynch综合征(LS)和家族性腺瘤性息肉病(FAP),占结直肠癌(CRC)的5-10%;然而,在中国,医生对这些疾病的认识和管理知之甚少。我们对来自中国81家医院的81名医生进行了全国性的横断面调查,使用74项问卷评估基因检测、谱系管理和LS/FAP方案。每家医院每年平均CRC病例数为1093例,与仅32例HCRC病例形成鲜明对比。LS的诊断率低得惊人(0.83%比预期的2-3%)。虽然95.1%的医院提供dMMR免疫组化,但只有85.3%的CRC患者接受了dMMR免疫组化。基因检测完成率较低:74.1%和76.5%的医院报告疑似HCRC患者和一级亲属的完成率分别为0-25%。主要障碍包括高费用(93.8%)、缺乏保险覆盖(75.3%)和患者拒绝(51.9%)。不到三分之一的中心遵循国家综合癌症网络(NCCN)指南。只有8.6%的人将降低风险的子宫切除术和双侧输卵管-卵巢切除术纳入标准手术。仅有13.6%的人拥有家庭管理系统,23.5%的人聘用遗传咨询师,46.9%的人接受过HCRC培训。中国的HCRC诊断和管理不足,存在很大的指南与实践差距。需要紧急干预措施,以提高医生教育,减少财政障碍,并实施标准化的协议。
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来源期刊
Familial Cancer
Familial Cancer 医学-遗传学
CiteScore
4.10
自引率
4.50%
发文量
36
审稿时长
6-12 weeks
期刊介绍: In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers. Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician. The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.
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