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首页> 外文期刊>South African medical journal = >Knowledge regarding basic concepts of hereditary cancers, and the available genetic counselling and testing services: A survey of general practitioners in Johannesburg, South Africa
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Knowledge regarding basic concepts of hereditary cancers, and the available genetic counselling and testing services: A survey of general practitioners in Johannesburg, South Africa

机译：关于遗传性癌症基本概念的知识，以及可用的遗传咨询和检测服务：南非约翰内斯堡的全科医生调查

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BACKGROUND: In families with hereditary cancer, at-risk individuals can benefit from genetic counselling and testing. General practitioners (GPs) are ideally placed to identify such families and refer them appropriately. OBJECTIVE: To assess the practices, knowledge and attitudes of GPs regarding common hereditary cancers. METHODS: An exploratory research design was used. An existing questionnaire was adapted, piloted and mailed to 196 GPs in Johannesburg, South Africa. The 61 GPs (31.1%) who completed and returned the questionnaire constituted the final sample. Data were analysed using descriptive statistics. RESULTS: The GPs obtained some information on cancer family history from their patients, but not enough to assess the risks. Altogether 22 (36.1%) of the GPs referred patients to appropriate facilities for assessment and testing, while 32 (52.5%) were aware of genetic testing services. Most (38/61, 62.3%) were not familiar with the genetic counselling facilities available, but they felt patients should have counselling before testing. Less than half knew about possible paternal inheritance, or the low rate of hereditary mutations and their penetrance. Overall, the majority of GPs (53/61, 86.9%) were interested in learning more about cancer genetics and available services, and they expected to play an increasing role in the field in the future. CONCLUSIONS: Many of the GPs in this study had limited knowledge about inherited cancers, cancer risk management and genetic services. Appropriate education needs to be increased so that they are better equipped to identify and refer families at risk.
机译：背景：在患有遗传性癌症的家庭中，高危人群可以从遗传咨询和检测中受益。全科医生（GP）理想地可以识别此类家庭并适当地推荐他们。目的：评估全科医生对常见遗传性癌症的实践，知识和态度。方法：采用探索性研究设计。现有的问卷经过改编，试行并邮寄给了南非约翰内斯堡的196名GP。完成并返回问卷的61名GP（31.1％）构成了最终样本。使用描述性统计数据分析数据。结果：全科医生从患者那里获得了一些有关癌症家族史的信息，但不足以评估风险。共有22位（36.1％）的GP将患者转介到合适的设施进行评估和测试，而32位（52.5％）知道了基因测试服务。大多数（38 / 61，62.3％）对可用的遗传咨询设施不熟悉，但他们认为患者应在测试前进行咨询。不到一半的人知道可能的父亲遗传，或遗传突变率和外显率低。总体而言，大多数全科医生（53/61，86.9％）有兴趣了解有关癌症遗传学和可用服务的更多信息，并且他们希望将来在该领域发挥越来越重要的作用。结论：本研究中的许多全科医生对遗传性癌症，癌症风险管理和遗传服务的知识有限。需要加强适当的教育，以便他们更好地识别和介绍有风险的家庭。

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