Genomic medicine in Africa: a need for molecular genetics and pharmacogenomics experts

Abstract

The large-scale implementation of genomic medicine in Africa has not been achieved. This overview describes how routine molecular genetics and advanced protein engineering/structural biotechnology could accelerate its implementation. First, by using data mining and analysis approaches, we analysed relevant information obtained from public genomic databases on pharmacogenomics biomarkers, and reviewed published studies to discuss the ideas. The results showed that only 68 very important pharmacogenes currently exist, while 867 drug label annotations, 201 curated functional pathways, and 746 annotated drugs have been catalogued on the largest pharmacogenomics database (PharmGKB). Only about 5009 variants of the reported ∼25000 have been clinically annotated. Predominantly, the genetic variants were derived from forty-three (43) genes that contribute to 2318 clinically relevant variations in 57 diseases. Majority (∼60%) of the clinically relevant genetic variations in the pharmacogenes are missense variants (1390). The enrichment analysis showed that 15 pharmacogenes are connected biologically and are involved in the metabolism of cardiovascular and cancer drugs. The labelled drugs are based on measurable or identifiable genetic information and phenotypic data derived mainly from non-Africans. The review of studies showed that cardiovascular diseases are the most frequent non-communicable diseases responsible for approximately 13% of all deaths in Africa. Also, warfarin pharmacogenomics is the most studied drug on the continent, while CYP2D6, CYP2C9, DPD and TPMT are the most investigated pharmacogenes with allele activities indicated in African and considered to be intermediate metaboliser for DPD and TPMT (8.4% and 11%). In summary, we highlighted a framework for implementing genomic medicine starting from the available resources on ground. However, there is urgent need for researchers and clinicians to harness innovations and skills in the areas of molecular genetics, molecular biology, biotechnology, bioinformatics and pharmacogenomics to achieve quality health services. The existing genomic initiatives in Africa like the Human Heredity and Health in Africa (H3Africa) consortium (https://h3africa.org/) must drive these areas with passion for expansive genetic discovery to drug allelic annotations, translational studies, and clinical trials of novel drug designs. We conclude that personalized medicine for Africans is possible by fine-tuning the strategies and holistically harnessing the modern approaches and techniques.