Unlocking the Potential of Pharmacogenomics in Africa
Including genetic data from Africans is crucial for achieving equitable pharmacogenomics.

Pharmacogenomics research in Africa transcends mere regional healthcare improvements: it represents a pivotal step in addressing pressing global health challenges and propelling medical science forward for all. 

A revolution is sweeping through the field of medicine, redefining how we approach the treatment of diseases. Africa must not be left behind in this transformative journey. Pharmacogenomics, the study of how genetic variations influence an individual’s response to therapeutic drugs, holds immense promise for healthcare by facilitating personalized treatments tailored to an individual’s genetic makeup. However, Africa faces a significant challenge due to a critical lack of tailored therapeutics for its genetically diverse population.

Africa’s population is projected to double by 2050 and boasts the most diverse population genetics globally. A study published in 2020 involving 426 Africans explored the breadth of genomic diversity across Africa and yielded over three million novel genetic variants previously undocumented.

Study published in 2020 found a huge breadth of genomic diversity among just 426 African individuals – only a fraction has been studied.

Despite the potential to significantly impact global health and enhance our understanding of genetic diseases worldwide, less than 5% of the data in the pharmacogenomics database, PharmGKB, comes from African populations. Additionally, of over 300 drugs for which the US Food and Drug Administration provides pharmacogenetic advice, only 15 have been studied in African groups.

Despite calls for more diversity in genomics studies, the gap continues to widen, with researchers revealing a 5% increase in genomics studies conducted in individuals of European descent by June 2021, up from 81% in 2016. This lack of representation hampers efforts to use African genomic data in global disease prevention and management, highlighting a significant genomic data gap.

How can we ensure that pharmacogenomics research in Africa leads to more equitable healthcare and bridges this genomic data gap?

Data sovereignty

Firstly, data sovereignty is crucial to ensure that African populations benefit from and retain ownership of their genetic data in pharmacogenomics research. Historically, these populations have been overlooked in treatment developments, as seen during the COVID-19 pandemic, where they were last in line.

It is crucial to implement safeguards to ensure that new treatments developed are affordable and accessible, and that knowledge gleaned from studying the genomes of people on the continent actually benefits those people. There should also be mechanisms in place to ensure that the benefits of genomic research are shared equitably, particularly with the communities that contribute their genetic data.

To prevent this from recurring, collaboration between researchers, pharmaceutical companies, research institutions, and African governments is key.  We must build local capacity and infrastructure for genomic research, empowering communities, fostering trust, and ensuring that research outcomes are relevant and beneficial to the continent.

I have been involved in research on how artificial intelligence (AI) can help to tailor drugs for Africa, and I’m excited by the promise this approach holds.  Initiatives like Project Africa GRADIENT (Genomic Research Approach for Diversity and Optimizing Therapeutics) exemplify the importance of data sovereignty, showcasing how collaborations can empower African populations and ensure the relevance of research outcomes.

Project Africa GRADIENT is a partnership with GlaxoSmithKline (GSK), Novartis, and the South African Medical Research Council (SAMRC), which aims to understand Africa’s genetic diversity and its impact on treatment responses. A total of nine projects across Africa are currently being supported under Project Africa GRADIENT.

This includes our project in collaboration with Ersilia Open Source Initiative where we are using AI to identify prevalent genetic variants affecting the metabolism of malaria and tuberculosis drugs, and incorporating the effects of these variants in existing mathematical modelling tools to come up with tailored drug doses for diverse African patient populations.

Building African capacity for genomics research

Second, collaborative initiatives like Project Africa GRADIENT are instrumental in building local research capacity and training the next generation of African scientists in cutting-edge genomic research and AI technologies. This capacity building is essential for sustainable improvements in healthcare delivery and research on the continent. Investing in local talent will help in addressing immediate healthcare needs and creating a legacy of expertise that will drive future innovations in healthcare.

University of Cape Town Holistic Drug Discovery and Development (H3D) Centre, a place of innovative medical research.

New regulatory frameworks

Third, the policy implications of pharmacogenomics research in Africa are profound and require regulatory frameworks that protect patient privacy and ensure equitable access to personalised medicine. Governments and regulatory bodies should play a crucial role in supporting and regulating genomic research to maximise its benefits for African populations.

This includes implementing policies that incentivise pharmaceutical companies and research institutions to prioritize diversity in clinical trials and research. By establishing robust policies, we can create an environment that fosters innovation while safeguarding the rights and well-being of African populations.

Public awareness as a lynchpin

The public remains the lynchpin of the success of all these novel innovations. Public awareness and engagement are crucial aspects of genomic research, especially in Africa, where cultural and ethical considerations are important.  As partners in this work, we must build a chorus of awareness among the public about the benefits and misconceptions of pharmacogenomics research among African populations. This engagement is essential for fostering a sense of ownership among African communities and shaping the future of healthcare while also building trust.

I continue to be motivated by homegrown solutions for achieving health equity. By focusing on the diverse genetic makeup of African populations, we can develop tailored treatments that benefit everyone, irrespective of geographical boundaries. To make this a reality, we need continued collaboration, investment, and commitment from governments, pharmaceutical companies, research institutions and communities.

It’s time to prioritize African voices and expertise in healthcare research and ensure no one is left behind in the quest for equitable and effective healthcare worldwide. Together, we can bridge the health gap and create a healthier, more equitable future for generations to come.

Professor Kelly Chibale is the Neville Isdell Chair in African-centric Drug Discovery and Development at the University of Cape Town, and founder and director of the university’s Holistic Drug Discovery and Development (H3D) Centre.


Image Credits: Sangharsh Lohakare/ Unsplash, Nature, Choudhury et al. (2020).

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