Research

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

Mardelle Schoeman, Justus P Apffelstaedt, Karin Baatjes, Michael Urban

Abstract


Background. 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. 


Authors' affiliations

Mardelle Schoeman, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University and Tygerberg Hospital, Cape Town, South Africa

Justus P Apffelstaedt, Department of Surgery, Stellenbosch University and Breast Clinic, Tygerberg Hospital, Cape Town, South Africa

Karin Baatjes, Department of Surgery, Stellenbosch University and Breast Clinic, Tygerberg Hospital, Cape Town, South Africa

Michael Urban, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University and Tygerberg Hospital, Cape Town, South Africa

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Keywords

breast cancer; hereditary breast and ovarian cancer; genetic counselling; BRCA1; BCRA2; BRCA testing; South Africa

Cite this article

South African Medical Journal 2013;103(8):529-533. DOI:10.7196/SAMJ.6814

Article History

Date submitted: 2013-02-18
Date published: 2013-06-25

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