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韩国医护人员对遗传性妇科癌症的遗传咨询和基因检测的认知:一项调查。

Awareness of genetic counseling and genetic testing for hereditary gynecologic cancers among Korean healthcare providers: A survey.

机构信息

Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University School of Medicine, Seoul, South Korea.

Division of Tumor Immunology, Center for Gynecologic Cancer, National Cancer Center, Research Institute and Hospital, Goyang, South Korea.

出版信息

J Genet Couns. 2022 Apr;31(2):546-553. doi: 10.1002/jgc4.1524. Epub 2021 Oct 21.

Abstract

We conducted a survey to evaluate the awareness of genetic counseling and testing for hereditary gynecologic cancers among Korean healthcare providers. We performed an on-the-spot survey using 29 questions on respondents' basic information, awareness of pre/post-test genetic counseling, genetic information management, and related social issues. We surveyed healthcare providers who attended the 2019 Hereditary Gynecologic Cancer Symposium organized by the Korean Society of Gynecologic Oncology. Of the 108 attendees, 85 (78.7%) participated in the survey. Among them, 45% (37/83) and 40% (33/83) did not have a separate clinic and had a dedicated team for genetic counseling in their institutions, respectively. Most respondents (60/76, 79%) recommended genetic testing for all women diagnosed with epithelial ovarian cancer. Many respondents simultaneously (20/85, 24%) or sequentially (45/85, 53%) tested for both pathogenic somatic and germline variants, whereas a few respondents (2/85, 2%) checked for only pathogenic somatic variants using tissue samples. Only 20% (17/85) of the respondents recommended genetic testing for all women with endometrial cancer; meanwhile, 68% (58/86) offered the test based on the results of the screening test or family history. Risk-reducing salpingo-oophorectomy was recommended to unaffected women with pathogenic BRCA1/2 variants by 69.4% of the respondents (59/85). Most respondents (73/85, 85.9%) needed a manual on bioethics law; a few required a clinical update of hereditary cancer (73/85, 85.9%). The awareness of genetic counseling and testing and the pattern of clinical practice for hereditary gynecologic cancers differ among institutions and regions in Korea. A discussion on these issues and the development of an integrated manual for healthcare providers are required.

摘要

我们进行了一项调查,以评估韩国医疗保健提供者对遗传性妇科癌症遗传咨询和检测的认识。我们使用 29 个问题对受访者的基本信息、对预/后测试遗传咨询、遗传信息管理以及相关社会问题的认识进行了现场调查。我们调查了参加由韩国妇科肿瘤学会组织的 2019 年遗传性妇科癌症研讨会的医疗保健提供者。在 108 名与会者中,有 85 人(78.7%)参加了调查。其中,45%(37/83)和 40%(33/83)的机构没有单独的诊所,也没有专门的遗传咨询团队。大多数受访者(60/76,79%)建议所有上皮性卵巢癌患者进行基因检测。许多受访者同时(20/85,24%)或连续(45/85,53%)对致病性体细胞和种系变体进行检测,而少数受访者(2/85,2%)仅使用组织样本检查致病性体细胞变体。只有 20%(17/85)的受访者建议所有子宫内膜癌患者进行基因检测;同时,68%(58/86)根据筛查试验或家族史提供检测。有 69.4%(59/85)的受访者建议将致病性 BRCA1/2 变体的无症状女性进行降低风险的输卵管卵巢切除术。大多数受访者(73/85,85.9%)需要一本生物伦理法手册;少数人需要遗传性癌症的临床更新(73/85,85.9%)。韩国各机构和地区的遗传咨询和检测意识以及遗传性妇科癌症的临床实践模式存在差异。需要就这些问题进行讨论,并为医疗保健提供者制定综合手册。

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