Implementation of a breast cancer genetic service in South Africa - lessons learned

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dc.contributor.authorSchoeman, Mardelleen_ZA
dc.contributor.authorApffelstaedt, Justus P.en_ZA
dc.contributor.authorBaatjes, Karinen_ZA
dc.contributor.authorUrban, Michaelen_ZA
dc.date.accessioned2014-07-07T12:12:48Z
dc.date.available2014-07-07T12:12:48Z
dc.date.issued2013-06-25
dc.descriptionCITATION: Schoeman, M., Apffelstaedt, J. P., Baatjes, K. & Urban, M. 2013. Implementation of a breast cancer genetic service in South Africa - lessons learned. South African Medical Journal, 103(8):529-533, doi:10.7196/SAMJ.6814.
dc.descriptionThe original publication is available at http://www.samj.org.za
dc.description.abstractBackground. Genetic testing for BRCA mutations has been available in the Western Cape of South Africa since 2005, but practical implementation of genetic counselling and testing has been challenging. Objective. To describe an approach to breast cancer genetic counselling and testing developed in a resource-constrained environment at Tygerberg Hospital in Cape Town, Western Cape. Methods. Genetic counselling is offered in a stepwise manner to our diverse patient population, with a focus on affected probands, and subsequent cascade testing. A record review of BRCA testing between 2005 and 2011 was performed. Results. During this period 302 probands received genetic testing, with increasing numbers tested over time. Of 1 520 women treated for breast cancer since 2008, 226 (14.9%) accepted BRCA testing, and 39 tested positive (17.3% of those tested, and 2.6% of all women). Common founder mutations were detected in 11.9% of women (36/302), and comprised 73% (36/49) of mutations detected. Cascade testing increased after 2010: 16 female and 4 male family members of 19 probands accepted testing, with 6 positives being detected. Conclusion. A protocol-driven approach focusing on probands, with initial pre-test counselling by primary care staff has proven effective in establishing the service. Involvement of a clinical geneticist/genetic counsellor has permitted more detailed post-test counselling and increased use of cascade testing.
dc.description.urihttp://www.samj.org.za/index.php/samj/article/view/6814
dc.description.versionPublisher's version
dc.format.extent5 pages
dc.identifier.citationSchoeman, M., Apffelstaedt, J. P., Baatjes, K. & Urban, M. 2013. Implementation of a breast cancer genetic service in South Africa - lessons learned. South African Medical Journal, 103(8):529-533, doi:10.7196/SAMJ.6814.
dc.identifier.issn2078-5135 (online)
dc.identifier.issn0256-9574 (print)
dc.identifier.otherdoi:10.7196/SAMJ.6814
dc.identifier.urihttp://hdl.handle.net/10019.1/92148
dc.language.isoen
dc.publisherHealth & Medical Publishing Group
dc.rights.holderAuthors retain copyright
dc.subjectBreast -- Cancer -- Genetic aspectsen_ZA
dc.subjectGenetic councelling -- South Africaen_ZA
dc.subjectBRCA genes -- Testingen_ZA
dc.subjectBreast cancer genetic serviceen_ZA
dc.titleImplementation of a breast cancer genetic service in South Africa - lessons learneden_ZA
dc.typeArticle
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