Van Wyk Chantel, Wessels Tina-Mariѐ, Kromberg Jennifer G R, Krause Amanda
Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa; Current affiliation: Division of Health Sciences Education, Office of the Dean, Faculty of Health Sciences, University of the Free State, Bloemfontein, South Africa.
S Afr Med J. 2016 Feb 4;106(3):268-71. doi: 10.7196/SAMJ.2016.v106i3.10162.
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.
To assess the practices, knowledge and attitudes of GPs regarding common hereditary cancers.
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.
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.
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.
在患有遗传性癌症的家庭中，高危个体可从遗传咨询和检测中受益。全科医生（GP）处于理想位置，能够识别此类家庭并进行适当转诊。
评估全科医生对常见遗传性癌症的实践、知识和态度。
采用探索性研究设计。对一份现有问卷进行改编、预试验，然后邮寄给南非约翰内斯堡的196名全科医生。61名（31.1%）完成并返回问卷的全科医生构成最终样本。使用描述性统计方法分析数据。
全科医生从患者那里获取了一些关于癌症家族史的信息，但不足以评估风险。共有22名（36.1%）全科医生将患者转诊至合适的机构进行评估和检测，32名（52.5%）知晓基因检测服务。大多数（38/61，62.3%）不熟悉现有的遗传咨询机构，但他们认为患者在检测前应接受咨询。不到一半的人了解可能的父系遗传，或遗传性突变的低发生率及其外显率。总体而言，大多数全科医生（53/61，86.9%）有兴趣了解更多关于癌症遗传学和可用服务的信息，并且他们预计未来在该领域将发挥越来越大的作用。
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了解有限。需要加强适当的教育，以便他们能更好地识别和转诊高危家庭。
