Skip to main content

Genomics research in Africa and its impact on global health: insights from African researchers

  • N. S. Munung (a1), B. M. Mayosi (a1) (a2) and J. de Vries (a1)

Africa may be heading for an era of genomics medicine. There are also expectations that genomics may play a role in reducing global health inequities. However, the near lack of genomics studies on African populations has led to concerns that genomics may widen, rather than close, the global health inequity gap. To prevent a possible genomics divide, the genomics ‘revolution’ has been extended to Africa. This is motivated, in part, by Africa's rich genetic diversity and high disease burden. What remains unclear, however, are the prospects of using genomics technology for healthcare in Africa. In this qualitative study, we explored the views of 17 genomics researchers in Africa on the prospects and challenges of genomics medicine in Africa. Interviewees were researchers in Africa who were involved in genomics research projects in Africa. Analysis of in-depth interviews suggest that genomics medicine may have an impact on disease surveillance, diagnosis, treatment and prevention. However, Africa's capacity for genomics medicine, current research priorities in genomics and the translation of research findings will be key defining factors impacting on the ability of genomics medicine to improve healthcare in Africa.

  • View HTML
    • Send article to Kindle

      To send this article to your Kindle, first ensure is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about sending to your Kindle. Find out more about sending to your Kindle.

      Note you can select to send to either the or variations. ‘’ emails are free but can only be sent to your device when it is connected to wi-fi. ‘’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

      Find out more about the Kindle Personal Document Service.

      Genomics research in Africa and its impact on global health: insights from African researchers
      Available formats
      Send article to Dropbox

      To send this article to your Dropbox account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Dropbox.

      Genomics research in Africa and its impact on global health: insights from African researchers
      Available formats
      Send article to Google Drive

      To send this article to your Google Drive account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Google Drive.

      Genomics research in Africa and its impact on global health: insights from African researchers
      Available formats
This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (, which permits unrestricted re-use, distribution, and reproduction in any medium, provided the original work is properly cited.
Corresponding author
*Address for correspondence: N. S. Munung, Department of Medicine, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa. (Email:
Hide All
1.Siwo, G, Williams, S, Moore, J. The future of genomic medicine education in Africa. Genome Medicine 2015; 7: 47.
2.Mitropoulos, K, et al. Success stories in genomic medicine from resource-limited countries. Human Genomics 2015; 9: 11.
3.Nordling, L. How the genomics revolution could finally help Africa. Nature News 2017; 544: 2022.
4.Gross, R, et al. Slow efavirenz metabolism genotype is common in Botswana. Journal of Acquired Immune Deficiency Syndromes (1999) 2008; 49: 336337.
5.International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 2001; 409: 860921.
6.Schuster, SC, et al. Complete Khoisan and Bantu genomes from Southern Africa. Nature 2010; 463: 943947.
7.Ramsay, M, et al. Africa: the next frontier for human disease gene discovery? Human Molecular Genetics 2011; 20: R214R220.
8.Wonkam, A, Njamnshi, AK, Angwafo, FF III. Knowledge and attitudes concerning medical genetics amongst physicians and medical students in Cameroon (sub-Saharan Africa). Genetics in Medicine 2006; 8: 331338.
9.Wonkam, A, Mayosi, BM. Genomic medicine in Africa: promise, problems and prospects. Genome Medicine 2014; 6: 11.
10.Singer, PA, Daar, AS. Harnessing genomics and biotechnology to improve global health equity. Science 2001; 294: 87.
11.Gurdasani, D, et al. The African genome variation project shapes medical genetics in Africa. Nature 2015; 517: 327332.
12.H3Africa Consortium. Enabling the genomic revolution in Africa. Science 2014; 344: 13461348.
13.Malaria Genomic Epidemiology Network. A global network for investigating the genomic epidemiology of malaria. Nature 2008; 456: 732737.
14.Kromberg, JGR, Sizer, EB, Christianson, AL. Genetic services and testing in South Africa. Journal of Community Genetics 2013; 4: 413423.
15.Charmaz, K. Constructing Grounded Theory: A Practical Guide Through Qualitative Analysis 2006 224 ed. London, UK: SAGE Publications Ltd.
16.Devers, KJ, Frankel, RM. Study design in qualitative research—2: sampling and data collection strategies. Education for Health 2000; 13: 263.
17.Munung, NS, Mayosi, BM, de Vries, J. Equity in international health research collaborations in Africa: perceptions and expectations of African researchers. PLoS ONE 2017; 12: e0186237.
18.Bello-Manga, H, DeBaun, MR, Kassim, AA. Epidemiology and treatment of relative anemia in children with sickle cell disease in sub-Saharan Africa. Expert Review of Hematology 2016; 9: 10311042.
19.Beighton, P, et al. UCT's contribution to medical genetics in Africa – from the past into the future. South African Medical Journal 2012; 102: 446448.
20.Urban, MF. Genomics in medicine: from promise to practice. SAMJ 2015; 105: 545547.
21.Netto, GJ, Saad, RD, Dysert, PA. Diagnostic molecular pathology: current techniques and clinical applications, part I. Proceedings (Baylor University Medical Center) 2003; 16: 379383.
22.Gahl, WA, et al. The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genetics in Medicine 2012; 14: 5159.
23.Spear, BB, Heath-Chiozzi, M, Huff, J. Clinical application of pharmacogenetics. Trends in Molecular Medicine 2001; 7: 201204.
24.Research Ethics Web: Mapping African Research Ethics Review Capacity ( Accessed 19 November 2015.
25.Masimirembwa, C, Hasler, JA. Pharmacogenetics in Africa, an opportunity for appropriate drug dosage regimens: on the road to personalized healthcare. CPT: Pharmacometrics & Systems Pharmacology 2013; 2: e45.
26.Nyakutira, C, et al. High prevalence of the CYP2B6 516G->T(*6) variant and effect on the population pharmacokinetics of efavirenz in HIV/AIDS outpatients in Zimbabwe. European Journal of Clinical Pharmacology 2008; 64: 357365.
27.Struelens, MJ, Brisse, S. From molecular to genomic epidemiology: transforming surveillance and control of infectious diseases. Euro Surveillance 2013; 18: 20386.
28.Lienau, EK, et al. Identification of a salmonellosis outbreak by means of molecular sequencing. New England Journal of Medicine 2011; 364: 981982.
29.Gire, SK, et al. Genomic surveillance elucidates Ebola virus origin and transmission during the 2014 outbreak. Science 2014; 345: 13691372.
30.Boulyjenkov, V, Schapper, C. The Ethical, Legal and Social Implications of Pharmacogenomics in Developing Countries: Report of an International Group of Experts. WHO: Geneva, Switzerland. 2007, p. 72.
31.Phillips, KA, et al. The economic value of personalized medicine tests: what we know and what we need to know. Genetics in Medicine 2014; 16: 251257.
32.Alyass, A, Turcotte, M, Meyre, D. From big data analysis to personalized medicine for all: challenges and opportunities. BMC Medical Genomics 2015; 8: 33.
33.Shabaruddin, FH, Fleeman, ND, Payne, K. Economic evaluations of personalized medicine: existing challenges and current developments. Pharmacogenomics and Personalized Medicine 2015; 8: 115126.
34.Seguin, B, et al. Genomic medicine and developing countries: creating a room of their own. Nature Reviews Genetics 2008; 9: 487493.
35.Benatar, SR. Commentary: justice and medical research: a global perspective. Bioethics 2001; 15: 333340.
36.Pratt, B, Loff, B. A framework to link international clinical research to the promotion of justice in global health. Bioethics 2014; 28: 387396.
37.Tiffin, N. Unique considerations for advancing genomic medicine in African populations. Personalized Medicine 2014; 11: 187196.
38.Burke, W, et al. The path from genome-based research to population health: development of an international public health genomics network. Genetics in Medicine 2006; 8: 451458.
39.Daar, AS, Sahni, P, Singer, PA. Genomics, biotechnology and global health: the work of the University of Toronto Joint Centre for Bioethics. Acta Bioethica 2004; X: 213225.
40.Burgner, D, Jamieson, SE, Blackwell, JM. Genetic susceptibility to infectious diseases: big is beautiful, but will bigger be even better? The Lancet Infectious Diseases 2006; 6: 653663.
41.Hill, AV. Genetics and genomics of infectious disease susceptibility. British Medical Bulletin 1999; 55: 401413.
42.Newport, MJ, Finan, C. Genome-wide association studies and susceptibility to infectious diseases. Briefings in Functional Genomics 2011; 10: 98107.
43.Harris, E, Belli, A, Agabian, N. Appropriate transfer of molecular technology to Latin America for public health and biomedical sciences. Biochemical Education 1996; 24: 312.
44.Ruger, JP. Global health justice. Public Health Ethics 2009; 2: 261275.
45.WHO. Global World Estimates: Burden of Disease by Cause, Age, Sex, by Country and by Region, 2000–2015. World Health Organisation: Geneva, 2016.
Recommend this journal

Email your librarian or administrator to recommend adding this journal to your organisation's collection.

Global Health, Epidemiology and Genomics
  • ISSN: -
  • EISSN: 2054-4200
  • URL: /core/journals/global-health-epidemiology-and-genomics
Please enter your name
Please enter a valid email address
Who would you like to send this to? *



Altmetric attention score