Interview Questions for Dr. Collen Masimirembwa
Question 1:
“Your work has led to the discovery of significant genetic variants in the CYP2D6 and CYP2C19 genes among African populations, which are crucial for drug metabolism. This research has enabled the development of pharmacogenetic tests that tailor drug treatments to individual genetic profiles, significantly improving patient outcomes. Additionally, you’ve established the African Institute of Biomedical Science and Technology (AiBST) as a leading center for genomics research. How are these breakthroughs transforming the landscape of precision medicine in Africa and beyond?”
First, the establishment of the African Institute of Biomedical Science and Technlogy (AiBST) was partly inspired by the desire to influence the drug discovery, development and deployment value chain to take into account the genomic diversity of African populations with respect to responses to medicines. Genomics and Precision Medicine are therefore key thematic research programs at AiBST to help address the research gap where Africa contributes less than 1-2% in biomedical R&D output, genomic data, clinical trials, and intellectual property generation. Our pioneering work in establishing the fist biobank for suppooritng pharmacogenomics research in the early 2000’ has now been followed up by major biobanking initatives in Nigeria, Uganda and South Africa. Our pharmacogenomics research resulted in the first registerd genetic test in Africa , GenoPharm, that is inclusive of genetic variants unique to African populations and is now being rolled out in 6000 patients in four countries, South Africa, Zimbabwe, Kenya and Nigeira. Indeed, as a leading center for genomic research we have also taken the responsibility of training the next generation of scientists through our MSc in Genomcis and Precision Medicine program that is traing students from many African countries including Benin, Nigeria, Ghana, Kenya, and Zimbabwe. Our efforts are contributing to the increasing interest in genomics and precision medicine in Africa by academic instituons and the biopharmaceutical industry in the Global North hence helping African institutions build productive collaborations that are accelarating genomic research on the continent.
Question 2:
“Given the challenges of implementing precision medicine in resource-limited settings, what strategies have you employed to promote equitable access to precision medicine in Africa, and what are some of the most promising opportunities for advancing precision medicine in this region?”
Conducting basic and translational research in the African setting has many challenges that include infrastructure, limited number of skilled personnel, lack of funding for research, difficult supply chains and logistics and lack of a robust science research culture. I have taken it as a challenge that I must face head-on with an ambitious resolve that Africa can rise and competitively contribute to health research and innovation. To this end, way back in 2003, I established the African Pharmacogenomics Research Network to bring biomedical scientists in different parts of Africa to initiate research activities in pharmacogenetics. This has been relatively successful with research activities in more than 30 African countries now. To translate the increasing research output to implementable clinical solutions, I recently establsiedh the the Consortium for Genomics and Therapeutcis (CGTA) as a vehicle to conduct the first multi-national clinical pharmacogenetics program, iPROTECTA (implementation of pharmacogenetics testing for effective care and treatment in Africa) that aims to conduct various implimentaion studies in South Africa, Zimbabwe, Kenya and Nigeria. The initiation of iPROTECTA was initiated as an African continent equivalent to other successful multi-states and multinational PGx programs such as the IGNITE in the USA and the UPGx/PREPARE in Europe. I feel previledged to have been the pioneer of this research field that has, in part, contribntuted to other large initaitvie such as the massive H3Africa program that has built strong biobanking and bioinformatics capacity on the continent. Recent pronouncement by several African countries to establish national genome projects such as Egypt Genome project with a target of 100 000 genomes, Tunisia and South Africa also working on similar initiatives. In Zimbabwe, my institute in partnership with the Government has launched the Zimbabwe Genome Project of 50 000 genomes. The future for genomcis and pharmacogenocmis in particular looks very bright for Africa!
Question 3:
“Your talk at PMWC 2025 focuses on the clinical applications of pharmacogenetics in Africa. How do you see the genetic diversity and healthcare challenges in African populations contributing to the development of pharmacogenomics research and clinical applications in the next few years, and what impact do you think this will have on personalized medicine globally?”
Over the past 30 years, I have journeyed from basic population genetics in genes coding for drug metabolizing enzymes, to drug-gene interaction studies and now to clinical application of some of the findings. This research-bench to patient-bedside transition is already being scaled in the global north through activties at teaching hospitals and is likely to enter the general healthcare system in the coming few years. Our response to efavirenz neuropsychiatric adverse effects associated with genetic variation iin CYP2B6 spurred my belief that Africa was ready for pharmacogenetics guided precision medicine. In the early 2010s it was difficult to secure funding for such clinical translation of pharmacogenetics as the continent was seen to be overwhelmed by other basic medical needs. By 2015 I secured funding to develop a customized pharmaciogenetic testing array for major pharmacogenes for which storng clinical evidence existed. Taking the panel, GenoPharm, thorugh analytical validation and clinical validation was possible as funding agents where begining to recongise the potential impact of genomics research on African populations. In 2022 I secured funding to evaluate the feasibility of clinical pharmacogenetics across Africa using the GenoPharm test, hence the current work in South Africa, Zimbabwe, Kenya and Nigeria involving over 6 000 patients. This program will help us identify implementaion challenges in different parts of Africa that could include ethical frameworks to allow pharmacogenetics guided treatment plans, logistics of sample collection, shipment to laboratory and returing of results to patiens and doctors, knowledge of medical practioners on the interpretation and use of gnetic results, availability of alternative dosages of drugs or substitute drugs should available ones be not suitable for the patient. I therefore believe that in the coming 5 years, we will have identified barriers to clinical pharmacogenetics and found solutions to most of the challenges. This will pave way for broad adoption of clinical pharmacogenetics. In parallel, I see the results coming from our work in Africa having a huge influence/impact to African Americans (estimated at 40 million) and Africans in the diaspora in Europe, USA and other parts of the world (estimated at 200 million) who will benefit from our findings. Since most of them live in relatively better healthcare systems, the potential improved treatment outcomes for them will encourage rapid adoption of the tests we will have developed here in Africa across the world.
At a molecular genetic level, the genomic diversity of African populations which we have also demonstrated at pharmacogenomic level will contribute to mechanistic understanding of drug response. Each time we sequence samples from any African population, we discover many novel pharmacogenetic variants, some of which will help understand some observed differences in responses to medicines. We and others have already reported many African population specific variants such as the CYp2D6*17 and CYP2D6*29 whose clinical relevance we are starting to demonstrate in reduced efficacy of tamoxifen in African breast cancer patients. Some variants, such as the CYP2B6*6 are found in both European and African populaitons but at much higher frequencies in African populations. This might be found to be true for some variants that are associated with some new chemical entities and could require that pharmaceutical companies consider conducting clinical trials in populaitons in Africa that might have a higher frequency of the variant of concern, hence easier to find and recruit suitable study participants.
Question 4:
“As the CEO of the African Institute of Biomedical Science and Technology and the Chief Scientific Officer of CradleOmics, you have a unique perspective on the intersection of academic research and commercial innovation. How do you see these two areas working together to drive progress in precision medicine, and what role do public-private partnerships play in advancing this field?”
To “ensure healthy lives and promote well-being for all ages” (SDG3), Africa must develop and deploy locally responsive healthcare products and services. The core of my institute’s vision is to build capacity for R&D of products in the fields of genomics, pharmacogenomics. However, Africa has limited translational research capacity as demonstrated by a lack of a R&D biopharmaceutical industry. Based on its innovative product, GenoPharm and other prodcuts in development, the African Institute of Biomedical Science and Technology, establsiedh a spin off company, CradleOmics to commercilaise its research and innovation products. This is a daring yet necessary transition to separate research grants and philathropy driven research activities to venture capital driven industry and commercialization.
To develop this model, I have initatied a translational research program called SPARK Africa whose aim is to tap into creative research projects at academic institutions across Africa and help the researchers turn their brilliant research into products and services. Under the SPARK Africa initiative, AiBST will co-develop promising projects and de-risk them to attract investors. When ready, such projects can, through our technology transfer office be licensed to suitable pharmaceutical and biotechnology companies which have capacity to take them to market.
To pilot this translational research model, pharmacogenomics driven precision medicine seems like a low hanging fruit in that its promise is clear and the technology for its delivery is now available. Sustainable precision medicine product development requires multi-sectorial inter- and transdisciplinary approaches. To enable this translational science to manifest a number of barriers need to be addressed in Africa:
- Developing frameworks for building and retaining the essential skilled human resource
- Developing investment models to mobilise funding required to support commercial health R&D
- Addressing supply chain, logistic and regulatory roadblocks that create R&D cost inefficiencies and discourage investment
- Engaging governments and policymakers to strengthen innovation ecosystems and integrate models driven by local industry and commercialism.
The establishment of Genomics Centres of Excellence in Africa (GenCoE) currently led by Nigeria and South Africa promises to establish high throughput whole genome sequencing (WGS) capacity on the continent. There is also a growing interest in genomics by the pharmaceutical industry exemplified by the the formation of the Partnership for Advancing Genomic Research in Africa (PAGRA), a Consortium of scientists and pharmaceutical company representatives that are committed to the advancement of genomic research in Africa. With respect to pharmacogenomics the formation of Project Africa GRADIENT (Genomic Research Approach for Diversity and Optimizing Therapeutics) by Novartis and GSK, which seeks to expand knowledge of the African pharmacogenetics landscape and to improve healthcare outcomes for millions by advancing genomics research in Africa are transforming the precision medicine landscape in Africa.
Local efforts at reducing research barriers and the coming on board of pharmaceutical industry players will catalyse translational initiatives, and de-risk the genomics guided precision medicine products development value chains, fostering sustainable R&D ecosystesms and progress towards the health solutions Africa and the world wants.
