Advertisement

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

Abstract

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.

Keywords

Genetics Genetic Services Genetic Testing Genetic Counselling Medical Genetics South Africa 

Notes

Acknowledgments

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.

References

  1. Baumiller RC, Cunningham G, Fisher N, Fox L, Henderson R, Lebel R, McGrath G, Pelias MZ, Porter I, Seydel F, Wilson NR (1996) Code of ethical principles for genetics professionals. Am J Med Genet 65:177–183PubMedCrossRefGoogle Scholar
  2. Beighton P, Botha MC (1986) Inherited disorders in the black population of southern Africa. S Afr Med J 69:247–249, 293–296, 375–378PubMedGoogle Scholar
  3. Benatar S (2004) Health care reform and the crisis of HIV and AIDS in South Africa. New Engl J Med 351:81–92PubMedCrossRefGoogle Scholar
  4. Choice on Termination of Pregnancy Act 92 of 1996Google Scholar
  5. Chopra M, Daviaud E, Pattinson R, Fonn S, Lawn JE (2009) Health in South Africa. Part Two: saving the lives of South Africa’s mothers, babies, and children: can the health system deliver? Lancet 374:835–846PubMedCrossRefGoogle Scholar
  6. Christianson A, Howson CP, Modell B (2006) March of dimes global report on birth defects. March of Dimes Birth Defects Foundation, New YorkGoogle Scholar
  7. Constitution of the Republic of South Africa Act 108 of 1996Google Scholar
  8. Convention on Human Rights and Biomedicine of the Council of Europe (1997)Google Scholar
  9. Coovadia H, Jewkes R, Barron P, Sanders D, McIntyre D (2009) Health in South Africa, Part One: the health and health systems of South Africa: historical roots of current public health challenges. Lancet 374:817–834PubMedCrossRefGoogle Scholar
  10. Council MR, Africa S (2002) Guidelines on ethics for medical research: reproductive biology and genetic research. MRC, TygerbergGoogle Scholar
  11. Delport R (2009) Familial hypercholesterolaemia in South Africans: tracking findings and developments over time—with reference to: prevalence of hypercholesterolaemia in young Afrikaners with myocardial infarction. Ischaemic heart disease risk factors. Cardiovasc J Afr 20:18–22PubMedGoogle Scholar
  12. Department of Health, South Africa (2007) Diagnostic Genetic Tests. Available at www.doh.gov.za/docs/index.html
  13. Department of Health, South Africa (2001) Policy guidelines for the management and prevention of genetic disorders, birth defects and disabilities. Department of Health, PretoriaGoogle Scholar
  14. Econex (2010) Financial Implications of a National Health Insurance Plan for South Africa. Available at www.econex.co.za/
  15. Goldman A, Krause A, Jenkins T (1997) Fragile X syndrome occurs in the South African black population. S Afr Med J 87:418–420PubMedGoogle Scholar
  16. Health Professionals Council of South Africa (2009) Statistics. Available at http://www.hpcsa.co.za/statistics.og.2009
  17. Health Professionals Council of South Africa (2010) Professional boards. Medical technology. Available at http://www.hpcsa.co.za/board_medtech_education.php
  18. Health Systems Trust (2008) South African Health Report 2008. Available at http://www.hst.org.za/generic/29
  19. Hift RJ, Meissner PN (2005) An analysis of 112 acute porphyric attacks in Cape Town, South Africa: evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity. Med (Baltimore) 84:48–60CrossRefGoogle Scholar
  20. Hogan MC, Foreman KJ, Naghavi M, Ahn SY, Wang M, Makela SM, Lopez AD, Lozano R, Murray CJL (2010) Maternal mortality for 181 countries, 1980–2008: a systematic analysis of progress towards Millennium Development Goal 5. Lancet 375:1609–1623PubMedCrossRefGoogle Scholar
  21. Howson CP, Christianson AL, Modell B (2008) Disease Control Priorities Project. Controlling Birth Defects: Reducing the Hidden Toll of Dying and Disabled Children in Low Income Countries. Available at http://www.dcp2.org/file/230/dcpp-twpcongenitaldefects_web.pdf
  22. Human Development Report (2009) Overcoming Barriers: Human Mobility and Development. Available at http://hdr.undp.org/en/reports/global/hd2009/
  23. International Clearinghouse for Birth Defects (2005) Programme Descriptions. Available online at: http://www.icbdsr.org/page.asp?p=12919&l=1#SouthAfrica
  24. Jenkins T (1990) Medical genetics in South Africa. J Med Genet 27:760–779PubMedCrossRefGoogle Scholar
  25. Jenkins T, Lane AB, Kromberg JGR (1977) Tay–Sachs disease: screening and prevention in South Africa. S Afr Med J 51:95–98PubMedGoogle Scholar
  26. Kromberg JGR, Jenkins T (1982a) Prevalence of albinism in the South African negro. S Afr Med J 61:383–386PubMedGoogle Scholar
  27. Kromberg JGR, Jenkins T (1982b) Common birth defects in South African blacks. S Afr Med J 62:599–602PubMedGoogle Scholar
  28. Kromberg JGR, Jenkins T (1997) Cultural influences on the perception of genetic disorders in the Black population of Southern Africa. In: Clarke A, Parsons E (eds) Culture, kinship and genes. Macmillan, London, pp 147–157Google Scholar
  29. Kromberg JGR, Bernstein R, Jacobson M, Rosendorff J, Jenkins T (1989) A decade of mid-trimester amniocentesis in Johannesburg: prenatal diagnosis, problems and counselling. S Afr Med J 76:344–349PubMedGoogle Scholar
  30. Kromberg JGR, Krause A, Wessels T (2009) Roles of genetic counsellors in South Africa. SA Society for Human Genetics 13th congress, 5–8 April 2009, Stellenbosch, South Africa. Book of Abstracts, p. 36Google Scholar
  31. Labrum R, Rodda J, Krause A (2007) The molecular basis of spinal muscular atrophy (SMA) in South African black patients. Neuromuscul Disord 17:684–692PubMedCrossRefGoogle Scholar
  32. Lancet Series (2009) Health in South Africa 1–6. Published online at http://www.thelancet.com on 15 August 2009
  33. Lombard EH, Kromberg JGR, Thomson PD, Milner LS, van Biljon I, Jenkins T (1989) Autosomal recessive polycystic kidney disease. Evidence for high frequency of the gene in the Afrikaans-speaking population. S Afr Med J 76:321–323PubMedGoogle Scholar
  34. Manga N, Jenkins T, Jackson H, Whittaker DA, Lane AB (1999) The molecular basis of transferase galactosaemia in South African negroids. J Inherit Metab Dis 22:37–42PubMedCrossRefGoogle Scholar
  35. May PA, Gossage JP, Marais A-S, Hendricks LS, Snell CL, Tabachnick BG, Stellavato C, Buckley DG, Brooke LE, Viljoen DL (2008) Maternal risk factors for fetal alcohol syndrome and partial fetal alcohol syndrome in South Africa: a third study. Alcohol Clin Exp Res 32:738–753PubMedCrossRefGoogle Scholar
  36. McAllister M, Dunn G, Todd C (2010) Empowerment: qualitative underpinning of a new clinical genetics-specific patient-reported outcome. Eur J Hum Genet 18:1–6CrossRefGoogle Scholar
  37. Morar B, Lane AB (1996) The molecular characterisation of Gaucher disease in South Africa. Clin Genet 50:78–84PubMedCrossRefGoogle Scholar
  38. Morgan NV, Essop F, Demuth I, de Ravel T, Jansen S, Tischkowitz M, Lewis CM, Wainwright L, Poole J, Joenje H, Digweed M, Krause A, Mathew CG (2005) A common Fanconi anemia mutation in black populations of Sub-Saharan Africa. Blood 105:3542–3544PubMedCrossRefGoogle Scholar
  39. Mqoqi N, Kellett P, Sitas F, Jula M (2004) Incidence of histologically diagnosed cancer in South Africa, 1998–1999. National Cancer Registry of South Africa, JohannesburgGoogle Scholar
  40. National Health Acts No. 63 of 1997 and No. 61 of 2003Google Scholar
  41. National Health Laboratory Service (2009) Annual Report 2008–2009. NHLS, JohannesburgGoogle Scholar
  42. Opt’Hof J (1985) Genetic services for congenital and hereditary disorders. Eng Enterprises, PretoriaGoogle Scholar
  43. Padoa C, Goldman A, Jenkins T, Ramsay M (1999) Cystic fibrosis carrier frequencies in populations of African origin. J Med Genet 36:41–44PubMedGoogle Scholar
  44. Parrott N (1997) A study of the three most common chromosome trisomies, 21 (Down syndrome), 18 (Edwards syndrome) and 13 (Patau syndrome). MSc Research Report. University of the Witwatersrand, JohannesburgGoogle Scholar
  45. Patrick M, Stephen C (2007) Saving children 2005: a survey of child healthcare in South Africa. MRC Unit for Maternal and Infant Health Care Strategies, PretoriaGoogle Scholar
  46. Rosendorff J, Bernstein R, MacDougall L, Jenkins T, Opitz JM, Reynolds JF (1987) Fanconi Anemia: another disease of unusually high prevalence in the Afrikaans population of South Africa. Am J Med Genet 27:793–797PubMedCrossRefGoogle Scholar
  47. Sayed A-R, Bourne D, Pattinson R, Nixon J, Henderson B (2008) Decline in the prevalence of neural tube defects following folic acid fortification and its cost–benefit in South Africa. Birth Defects Res (Part A) 82:211–216CrossRefGoogle Scholar
  48. South African Institute of Race Relations (2009) South African Survey 2008/2009: Demographics. Geographical distribution and urbanisation. pp35-39. Available at http://www.sairr.org.za
  49. Statistics South Africa (2009) Mid-year population estimates. Mortality, expectation of life at birth, and fertility. pp 6–7. Available at http://www.statssa.gov.za/publications/P0302/P03022009.pdf
  50. Wertz DC, Fletcher JC, Berg K, Boulyjenkov V (1995) Guidelines on ethical issues in medical genetics and the provision of genetic services. World Health Organisation Hereditary Diseases Programme, GenevaGoogle Scholar
  51. Wikipedia (2011) Map of South Africa with English labels. Available at http://en.wikipedia.org/wiki/South_Africa
  52. World Bank (2010) Country Classification Table. Available at http://data.worldbank.org/country/south-africa
  53. World Health Organization (2006) Management of Birth Defects and Haemoglobin Disorders: Report of a joint WHO-March of Dimes meeting, 17–19 May 2006, Geneva, Switzerland. Available at http://www.who.int/genomics/publications/WHO-MODreport-final.pdf
  54. World Health Organization (2009a) World Health Statistics 2009. Part 4: Mortality and burden of disease. pp 35–45. Available at http://www.who.int/whosis/whostat/2009/en/index.html
  55. World Health Organization (2009b) World Health Statistics 2009. Part 7: Health Expenditure. pp 107–117. Available at http://www.who.int/whosis/whostat/2009/en/index.html
  56. World Health Organization. (2010a) Genes and Human Disease: Monogenic diseases. Map of global distribution of haemoglobin disorders. Available at http://www.who.int/genomics/public/Maphaemoglobin.pdf
  57. World Health Organization (2010b) Sixty-Third World Health Assembly. Provisional agenda item 11.7. April 2010. Available at http://apps.who.int/gb/ebwha/pdf_files/WHA63/A63_10-en.pdf

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

Personalised recommendations