Advancing Genomic Medicine: Implementation Research and Upskilling of Healthcare Professionals in Africa and Globally

This blog post was written by Alice Matimba, Vicky Nembaware, Faisal M. Fadlelmola, Fouzia Radouani, and Nicola Mulder

Genomic medicine applies genomic information to disease risk prediction, progression, treatment efficacy and safety, within the context of an individual patient’s environmental and demographic information. A growing body of evidence highlights the potential of genome-based healthcare to improve individual care, particularly for the management of monogenic disorders and complex infectious and non-communicable diseases such as sickle cell disease, HIV and cancer (1-3). With advancing technologies and data connectivity, genomic medicine is increasingly being integrated into mainstream practice in well-resourced settings. By contrast, the rate of application of genomic medicine in low- and middle-income (LMICs) is currently extremely limited or non-existent (4).

The implementation of genomic medicine in LMICs requires both scientific and translational research. African populations are historically under-represented in whole genome analyses. The characterisation of genomic variation amongst these populations, the identification of clinically actionable variants, and the development of tailored, region-specific panels for genetic testing will be necessary for identifying biomarkers for estimating disease risk and predicting the safety and efficacy of medicines in these populations. Efforts to translate these discoveries into clinical practice will need to be embedded in this research.

In LMICs, there is clear a gap in genomics training in both basic and continuing health professional education, particularly for doctors and nurses who are at the frontline of healthcare. Although a few African countries provide services from basic genetic medicine to next generation sequencing, the majority suffer from limited technological capacity and a scarcity of trained clinical geneticists (5). Furthermore, genomics education curricula often lack up-to-date information on newer advanced methods in the field and the emerging ethical, legal and social issues in genomic medicine. However, despite numerous reports and calls to action to improve training of health professionals, increase implementation research, and build capacity for genomic medicine implementation (6,7), progress has been slow.

Although numerous challenges for the implementation of genomic medicine in Africa exist, for example a lack of infrastructure, pressing healthcare priorities and poor investment and commitment from local governments, an important factor which will influence the rate of progress will be the development of a critical mass of healthcare professionals trained in genomics, its application and related research. Not only will this improve the care of patients and their families but also empower health professionals to interrogate and conceive new research questions specific to the population and environments where they are located. The Special Collection “Genomic Medicine and Global Health” provides a platform to highlight successful initiatives that promote the translation of genomics into practice, associated training programmes for health care professionals, and the potential benefits of these activities for medicine in Africa and globally.

See our current call for papers focusing on Genomic Medicine in Global Health (submission deadline June 30^th, 2018):

 

Read papers in this collection: 

 

References

1. Wonkam A, Mayosi BM. Genomic medicine in Africa: promise, problems and prospects. Genome Med. 2014 Feb 24;6(2):11. doi: 10.1186/gm528. eCollection 2014.
2. Nembaware V, Mulder N, Ramesar R. Preparing for genomic medicine nurse training in Africa. https://globalresearchnurses.tghn.org/articles/preparing-genomic-medicine-nurse-training-africa/
3. Mlotshwa BC, Mwesigwa S, Mboowa G, Williams L, Retshabile G, Kekitiinwa A, Wayengera M, Kyobe S, Brown CW, Hanchard NA, Mardon G, Joloba M, Anabwani G, Mpoloka SW. The collaborative African genomics network training program: a trainee perspective on training the next generation of African scientists. Genet Med. 2017 Jul;19(7):826-833. doi: 10.1038/gim.2016.177. Epub 2017 Apr 6.
4. Mitropoulos K, Al Jaibeji H, Forero DA, Laissue P, Wonkam A, Lopez-Correa C, Mohamed Z, Chantratita W, Lee MT, Llerena A, Brand A, Ali BR, Patrinos GP. Success stories in genomic medicine from resource-limited countries. Hum Genomics. 2015 Jun 18;9:11. doi: 10.1186/s40246-015-0033-3. PubMed PMID: 26081768; PubMed Central PMCID: PMC4485996.
5. Ndiaye Diallo, R., Gadji, M., Hennig, B., Guèye, M., Gaye, A., Diop, J., . . .Ramsay, M. (2017). Strengthening human genetics research in Africa: Report of the 9th meeting of the African Society of Human Genetics in Dakar in May 2016. <i>Global Health, Epidemiology and Genomics, 2, E10. doi:10.1017/gheg.2017.3
6. Siwo GH, Williams SM, Moore JH. The future of genomic medicine education in Africa. Genome Med. 2015 May 23;7(1):47. doi: 10.1186/s13073-015-0175-x. eCollection 2015. Erratum in: Genome Med. 2015;7(1):70.
7. Mitropoulos K, Cooper DN, Mitropoulou C, Agathos S, Reichardt JMitropoulos K, Cooper DN, Mitropoulou C, Agathos S, Reichardt JKV, Al-Maskari F, Chantratita W, Wonkam A, Dandara C, Katsila T, Lopez-Correa C, Ali BR, Patrinos GP. Genomic Medicine Without Borders: Which Strategies Should Developing Countries Employ to Invest in Precision Medicine? A New “Fast-Second Winner” Strategy. OMICS. 2017 Nov;21(11):647-657. doi: 10.1089/omi.2017.0141. PubMed PMID: 29140767.