Journal of Community Genetics

, Volume 4, Issue 3, pp 413–423 | Cite as

Genetic services and testing in South Africa

  • Jennifer G. R. Kromberg
  • Elaine B. Sizer
  • Arnold L. Christianson
Country Report


South Africa is a developing middle-income country with a population of over 49 million people. It has a health system, based on national, provincial and private health programmes, which is in transition. There are well organised but small genetic services, based mostly in academic centres, provincial health departments and the National Health Laboratory Service. Trained medical geneticists, genetic counsellors and medical scientists are available to deliver the service. Funding for this service is limited, due partly to the extensive demands made by the rampant HIV/AIDS epidemic (which has lead to a falling life expectancy, and increasing maternal, child and infant mortality rates) and partly due to some ignorance, among both health professionals and the public, concerning the benefits of genetic counselling and testing in affected families. There are four academic human genetics departments across the country providing counselling (7,313 cases were counselled in 2008), testing services (16,073 genetic tests were performed in 2008) and professional training. They also undertake research. Only one tenth of the required staff, according to the WHO recommendations, is available at present to provide these services, and further employment opportunities are urgently required. However, training of professionals continues, comprehensive genetic testing facilities are available, research on many of the genetic conditions of specific concern to the country has been and is being undertaken, and patients from all over Southern and Central Africa make use of these services.


Genetics Genetic Services Genetic Testing Genetic Counselling Medical Genetics South Africa 



The willing cooperation of staff from all the South African departments providing genetic services, particularly Professor A. Krause and the staff at the Division of Human Genetics, NHLS and University of the Witwatersrand in Johannesburg, in supplying the necessary statistics and information, is acknowledged. Thanks are also due to Professor M. Christianson for her contribution to the national policies and legal framework section and to Professor R. Ramesar and Dr. B. Henderson who reviewed and commented upon our original long GenTEE report from which this paper is derived. Funding support from the Mellon Foundation, for Professor J. Kromberg is acknowledged. The survey was also supported by (1) the “Institute for Health and Consumer Protection” (Italy), one of the seven scientific institutes of the Joint Research Centre (JRC) of the European Commission; (2) the Department of Human Genetics, Hannover Medical School, Hannover, Germany; and (3) the Unit of Women’s Health Research, Medical School, Westfaelische Wilhelms-Universitaet Muenster, Muenster, Germany.

Conflict of interest

The authors declare that there is no conflict of interest.


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Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • Jennifer G. R. Kromberg
    • 1
  • Elaine B. Sizer
    • 1
  • Arnold L. Christianson
    • 1
  1. 1.Division of Human GeneticsNational Health Laboratory Service and University of the WitwatersrandJohannesburgSouth Africa

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