Skip to main content
SpringerLink
Log in

The case for the genetic nurse in South Africa

  • Review
  • Published:
Journal of Community Genetics Aims and scope Submit manuscript

Abstract

The care and prevention of congenital disorders (CDs) is an emerging but unprioritised health need in South Africa (SA). Inadequate empirical data and underreporting conceal the true burden of CDs while medical genetic services to confront the problem have regressed. Positive epidemiological transition in the country now demands these services are improved to significantly further reduce child mortality. Current sector capacity in SA is inadequate and required personnel targets will not be reached quickly enough to meet the growing health need even if relevant posts are designated. Historically, genetic-trained nurses played a defined role in primary healthcare (PHC) by recognising and diagnosing common CDs and counselling patients and their families, while referring complex matters to the limited tertiary medical genetic services available. Policy changes to redress past inequalities and other healthcare priorities resulted in genetic services being incorporated into PHC, with few genetic nurses retaining their genetic services role. While the medium- to long-term aim for SA would be to develop medical genetic services with appropriate capacity at all levels of healthcare, there is an urgent short-term need to provide basic medical genetic services in PHC. Central to achieving this is the upgrading and re-implementation of the previously successful Medical Genetics Education Programme (MGEP). This post-graduate distance learning, education programme is implemented with the Congenital Disorders Course Book, a distance education tool promoting independent, home-based learning. Together, these tools offer an approach to swiftly build up a nursing workforce with improved knowledge and skills in medical genetics.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

Notes

  1. Seventy percent of genetically caused CDs based on a prevalence rate of 53.4 per 1000 live births (Christianson et al. 2006) and 1,250,782 live births in 2015 (Statistics South Africa 2015).

  2. Excluding lives affected by teratogens that could be potentially saved, which account for almost 20% of CDs in SA (Malherbe et al. 2015).

  3. The quadruple burden of disease in SA includes HIV/AIDS and TB, violence and injuries, high maternal and child mortality, and non-communicable diseases.

  4. Comprehensive genetic services are available at the University of Cape Town, University of the Free State, University of Stellenbosch, and University of the Witwatersrand.

  5. Sixty doctors per 100,000/population in 2013 compared to the global average of 152/100000 (ECONEX 2015).

  6. University of Cape Town, University of the Free State, University of Stellenbosch, and University of the Witwatersrand.

  7. University of Cape Town and the University of the Witwatersrand.

  8. Involving the University of the North, the University of Pretoria, National and Provincial Departments of Health, and trained nursing staff in seven rural hospitals in the Province.

  9. The provision of free healthcare to pregnant women and children under six without medical aid.

  10. Official numbers of genetic nurse and genetic nurse counsellor posts were unavailable. Three genetic nurse counsellor designated posts are known and several other nurses undertake some genetic nurse functions in non-genetic nursing posts.

References

  • Alwan A, Modell B (1997) Community control of genetic and congenital disorders. EMRO Technical Publications Series 24. World Health Organization, Egypt

  • Alwan A, Modell B (2003) Recommendations for introducing genetics services in developing countries. Nat Rev Genet 4:61–68

    Article  CAS  PubMed  Google Scholar 

  • Armstrong SJ, Rispel LC (2015) Social accountability and nursing education in South Africa. Global Health Action 8

  • Barreiro C, Bidondo C, Garrido J, Torrado M, Teiber M, De Castro M, Acevedo E, Luna A, Gutierrez E, Dellamea C, Picon C, Picon C, Torres K, Deurloo J, Kassab S, Elmeaudy P, Rodrieguez J (2013) CHACO Outreach Project. The development of a primary health care-based medical genetic service in an Argentinean province. J Community Genet 4:321–334

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Beighton P, Fieggen K, Wonkam A, Ramesar R, Greenberg J (2012) The University of Cape Town’s contribution to medical genetics in Africa: from the past into the future. S Afr Med J 102:446–448

    Article  PubMed  Google Scholar 

  • Calzone KA, Cashion A, Feetham S, Jenkins J, Prows CA, Williams JK, Wung S-F (2010) Nurses transforming health care using genetics and genomics. Nurs Outlook 58:26

    Article  PubMed  PubMed Central  Google Scholar 

  • Calzone KA, Jenkins J, Bakos AD, Cashion AK, Donaldson N, Feero WG, Feetham S, Grady PA, Hinshaw AS, Knebel AR (2013) A blueprint for genomic nursing science. J Nurs Scholarsh 45:96–104

    Article  PubMed  PubMed Central  Google Scholar 

  • Chola L, Pillay Y, Barron P, Tugendhaft A, Kerber K, Hofman K (2015) Cost and impact of scaling up interventions to save lives of mothers and children: taking South Africa closer to MDGs 4 and 5. Global Health Action 8

  • Christianson A (2000) Community genetics in South Africa. Community Genet 3:128–130

    Google Scholar 

  • Christianson A, Modell B (2004) Medical genetics in developing countries. Ann Rev Genomics Hum Genet 5:219–265

    Article  CAS  Google Scholar 

  • Christianson A, Venter P, Modiba J, Nelson M (2000) Development of a primary health care clinical genetic service in rural South Africa—the Northern Province experience, 1990–1996. J Community Genet 3:77–84

    Google Scholar 

  • Christianson A, Howson C, Modell B (2006) March of Dimes: global report on birth defects, the hidden toll of dying and disabled children. March of Dimes Birth Defects Foundation, New York

    Google Scholar 

  • Czeizel A, Intôdy Z, Modell B (1993) What proportion of congenital abnormalities can be prevented? BMJ 306:499–503

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Department of Health (2001) Policy guidelines for the management and prevention of genetic disorders, birth defects and disabilities. Department of Health, Pretoria

    Google Scholar 

  • Department of Health (2003) Strategic framework for the modernisation of tertiary hospital services. Department of Health, Pretoria

    Google Scholar 

  • Department of Health (2012) The National Strategic Plan for nurse education, training and practice 2012/3–2016/7. Department of Health, Pretoria

    Google Scholar 

  • Department of Health (2015) National Health Insurance: towards universal health coverage. White paper on National Health Insurance. Government Gazette (No. 1230), Pretoria

  • Dorrington R, Bradshaw D, Laubscher R, Nannan N (2015) Rapid mortality surveillance report 2014. South African Medical Research Council, Cape Town

    Google Scholar 

  • ECONEX (2015) Identifying the determinants of and solutions to the shortage of doctors in South Africa: is there a role for the private sector in medical education? Hospital Association of South Africa. Available at http://econex.co.za/wp-content/uploads/2015/08/ECONEX_Doctor-shortages-and-training_FINAL1.pdf. Accessed 28 Aug 2015

  • Ehlers V (2002) Republic of South Africa: policies and politics guide nurses’ application of genetic technology in public health settings. Policy Polit Nurs Pract 3:149–159

    Article  Google Scholar 

  • Emery J, Hayflick S (2001) The challenge of integrating genetic medicine into primary care. BMJ 322:1027–1030

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Glass M (2004) An assessment of the genetic knowledge of final year diploma nursing students. Master of Science in Nursing Thesis, University of Witwatersrand

  • Glass M, Walters S, Christianson L, Henderson B (2007) Implementation of a medical genetics distance education programme for registered nurses. European Human Genetics Conference, 16-19 June 2007 Nice, France. Nature Publishing Group, London

    Google Scholar 

  • Godino L, Skirton H (2012) A systematic review of nurses’ knowledge of genetics. Journal of Nursing Education and Practice 2:173

    Article  Google Scholar 

  • Gregersen N, Lampret J, Lane T, Christianson A (2013) The greater Sekhukhune-capability outreach project. J Community Genet 4:335–341

    Article  PubMed  PubMed Central  Google Scholar 

  • Guttmacher AE, Collins FS (2002) Genomic medicine—a primer. N Engl J Med 347:1512–1520

    Article  CAS  PubMed  Google Scholar 

  • Jenkins T (1990) Medical genetics in South Africa. J Med Genet 27:760

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kautzkyi K, Tollmani S (2008) A perspective on primary health care in South Africa. In: Barron P, Roma-Reardon J (eds) South African Health Review 2008, 13th edn. Health Systems Trust, Durban

    Google Scholar 

  • Kerber K, Lawn J, Johnson L, Mahy M, Dorrington R, Phillips H, Bradshaw D, Nannan N, Msemburi W, Oestergaard M, Walker N, Sanders D, Jackson D (2013) South African child deaths 1990–2011: have HIV services reversed the trend enough to meet Millennium Development Goal 4? AIDS 27:2637–2648

    Article  PubMed  PubMed Central  Google Scholar 

  • Kromberg JG, Sizer EB, Christianson AL (2013) Genetic services and testing in South Africa. J Community Genet 4:413–423

    Article  PubMed  Google Scholar 

  • Lebese L, Aldous C, Malherbe H (2016) South African congenital disorders data, 2006–2014. S Afr Med J 106:992–995

    Article  CAS  PubMed  Google Scholar 

  • Lemkus S, Van Der Merwe C, Op't Hof J (1978) Genetic and congenital disorders: knowledge and attitudes of the public, nurses and medcial practitioners in South Africa. S Afr Med J 53:491–494

    CAS  PubMed  Google Scholar 

  • Madhi S, Bamford L, Ngcobo N (2014) Effectiveness of pneumococcal conjugate vaccine and rotavirus vaccine introduction into the South African public immunisation programme. S Afr Med J 104:228–234

    Article  CAS  PubMed  Google Scholar 

  • Malherbe H, Christianson A, Aldous C (2015) Need for services for the care and prevention of congenital disorders in South Africa as the country’s epidemiological transition evolves. S Afr Med J 105:186–188

    Article  CAS  PubMed  Google Scholar 

  • Malherbe H, Aldous C, Woods D, Christianson A (2016) The contribution of congenital disorders to child mortality in South Africa. In: Padarath A, King J, Mackie E, Casciola J (eds) South African Health Review 2016, 19th edn. Health Systems Trust, Durban

    Google Scholar 

  • Mckeown T (1976) The modern rise of population. Edward Arnold, London

    Google Scholar 

  • Modell B, Kuliev A (1998) The history of community genetics: the contribution of the haemoglobin disorders. Community Genet 1:3–11

    CAS  PubMed  Google Scholar 

  • Nippert I, Christianson A, Gribaldo L, Harris H, Horovitz D, Randa K, Kent A, Kristoffersson U, Padilla C, Penchaszadeh V et al (2013) Genetic testing in emerging economies (GenTEE). Summary Report. Publications Office of the European Union, Ispra

  • Op't Hof J, Roux J (1983) Genetic services in the State Health Department of the RSA. S Afr Med J 64:43–48

    PubMed  Google Scholar 

  • Pattison R, Rhoda N (2014) Saving babies 2012–2013. Ninth report on perinatal care in South Africa. Tshepesa Press, Pretoria

    Google Scholar 

  • Penchaszadeh VB, Christianson AL, Giugliani R, Boulyjenkov V, Katz M (1999) Services for the prevention and management of genetic disorders and birth defects in developing countries. Community Genet 2:196–201

    CAS  PubMed  Google Scholar 

  • Phaladi-Digamela MR (2015) A competency-based curriculum framework to standardise genetics education in an advance midwifery programme. Doctor of Philosophy Thesis, University of Pretoria

  • Phaladi-Digamela M, Mulaudzi F, Maja T (2014) Genetics knowledge of advanced midwifery learners: educators’ perceptions. African Journal for Physical, Health Education, Recreation and Dance 1:300–311

    Google Scholar 

  • Prows CA, Glass M, Nicol MJ, Skirton H, Williams J (2005) Genomics in nursing education. J Nurs Scholarsh 37:196–202

    Article  PubMed  Google Scholar 

  • Rispel LC (2015) Special issue: transforming nursing in South Africa. Glob Health Action 8

  • Sayed AR, 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 A Clin Mol Teratol 82:211–216

    Article  CAS  PubMed  Google Scholar 

  • Secretary’s Advisory Committee on Genetics Health and Society (2011) Genetics education and training. Report of the Secretary’s Advisory Committee on Genetics Health, and Society. US Department of Health and Human Services. Available at http://osp.od.nih.gov/sites/default/files/SACGHS_education_report_2011.pdf. Accessed 20 Apr 2016

  • Statistics South Africa (2015) Mid-year population estimates: 2015. Statistical release P0302. Statistics South Africa, Pretoria. Available at http://www.statssa.gov.za/publications/P0302/P03022015.pdf. Accessed 24 Jul 2015

  • United Nations (2016) Sustainable Development Goal 3: ensure healthy lives and promote wellbeing for all and at all ages. Available at http://www.un.org/sustainabledevelopment/health/. Accessed 13 Jan 2016

  • Voce A, Monticelli F, Pillay Y, Kauchali S, Bhana R, Makua M, Ngubana G (2014) District clinical specialist teams. In: Padarath A, English R (eds) South African Health Review 2013/14. Health Systems Trust, Durban

    Google Scholar 

  • Wilkinson D, Sach M, Karim S (1997) In search of equity: impact of South Africa’s policy of free health care for children under six and pregnant women on rural mobile clinic services. Hospital and Nursing Yearbook of Southern Africa 1997:65–67

    Google Scholar 

  • Winship WS (2003) Handbook of genetic and congenital syndromes. Oxford University Press, USA

    Google Scholar 

  • Woods DE (2009) Birth defects: a learning programme for professionals. Electric Book Works, Cape Town

    Google Scholar 

  • World Health Assembly (2010) Sixty-Third World Health Assembly - Resolution 63.17. Birth Defects. World Health Organization. Available at http://apps.who.int/gb/ebwha/pdf_files/WHA63/A63_R17-en.pdf. Accessed 2 Sept 2014

  • World Health Organization (1993) Guidelines for the development of national programmes for monitoring birth defects. World Health Organization, Geneva

    Google Scholar 

  • World Health Organization (1999) Services for the prevention and management of genetic disorders and birth defects in developing countries. Report of a Joint WHO/WAOPBD Meeting, The Hague, 5–7 January 1999. World Health Organization, Geneva

    Google Scholar 

  • World Health Organization (2005) Community approaches to the control of hereditary diseases. Report of a WHO Advisory Group, Geneva, 3–5 October 1985. World Health Organization, Geneva

    Google Scholar 

  • World Health Organization (2006) Management of birth defects and haemoglobin disorders. Report of a Joint who-March of Dimes Meeting. Geneva, Switzerland, 17–19 May 2006. World Health Organization, Geneva

    Google Scholar 

  • World Health Organization (2015) World Health Statistics 2015. World Health Organization, Geneva

    Google Scholar 

  • You D, Hug L, Ejdemyr S, Beise J (2015) Levels and trends in child mortality 2015. Estimates developed by the United Nations Inter-Agency for Child Mortality Estimation. United Nations Children's Fund, New York

    Google Scholar 

Download references

Acknowledgements

This research was supported by a bursary via the College of Health Sciences, University of KwaZulu Natal. Inputs from Sarah Walters, Genetic Counsellor, are appreciated.

Author information

Authors and Affiliations

  1. School of Clinical Medicine, College of Health Sciences, University of KwaZulu Natal, Durban, KwaZulu Natal, South Africa

    Helen L. Malherbe & Colleen Aldous

  2. Wits Centre for Ethics (WiCE), University of the Witwatersrand, Johannesburg, South Africa

    Arnold L. Christianson

  3. Division of Neonatal Medicine, School of Child and Adolescent Health, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa

    David Woods

Authors
  1. Helen L. Malherbe
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Arnold L. Christianson
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. David Woods
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Colleen Aldous
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Helen L. Malherbe.

Ethics declarations

Funding

Helen Malherbe received a bursary for this study from the College of Health Science, University of KwaZulu Natal.

Conflict of interest

Helen Malherbe is the Honorary Chair of Genetic Alliance South Africa (NPO 001-029). Arnold Christianson, David Woods, and Colleen Aldous declare that they have no conflict of interest.

Ethical approval

This article does not contain any studies with human or animal participants performed by any of the authors.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Malherbe, H.L., Christianson, A.L., Woods, D. et al. The case for the genetic nurse in South Africa. J Community Genet 8, 65–73 (2017). https://doi.org/10.1007/s12687-017-0301-0

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12687-017-0301-0

Keywords

Search

Navigation