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vol.106 número3Breast cancer in high-risk Afrikaner families: Is BRCA founder mutation testing sufficient?A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome índice de autoresíndice de assuntospesquisa de artigos
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SAMJ: South African Medical Journal

versão On-line ISSN 2078-5135
versão impressa ISSN 0256-9574

Resumo

VAN WYK, C; WESSELS, T-M; KROMBERG, J G R  e  KRAUSE, A. Knowledge regarding basic concepts of hereditary cancers, and the available genetic counselling and testing services: A survey of general practitioners in Johannesburg, South Africa. SAMJ, S. Afr. med. j. [online]. 2016, vol.106, n.3, pp.268-271. ISSN 2078-5135.  http://dx.doi.org/10.7196/samj.2016.v106i3.10162.

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.

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