Africa is known to be the most genetically diverse region in the world. It is where a number of hominin lineages – including modern humans – arose and the source of the massive demographic event, known as the “Out of Africa” dispersal, which saw individuals spread throughout the world. Indeed, the signatures of our collective African origin persist in our genomes today. However, most clinical research and drug development is performed using data from European-derived populations in the Western Pacific, Europe and Americas, meaning Africa’s genetic pool remains largely uncaptured.
This lack of representation in genomic data becomes even more critical with the rise of precision medicine. It not only hinders the development of equitable healthcare solutions, but also limits insights into human evolution and population history. In ophthalmology, precision medicine leverages advanced technologies – such as imaging, artificial intelligence (AI), and big data – to explore the genetic, socio-environmental, and lifestyle factors that contribute to eye diseases. These tools enable more accurate diagnoses, earlier detection, and personalized treatment plans, reducing trial-and-error treatments and improving outcomes.
According to Lisa Roberts, co-Principal Investigator of Inherited Retinal Disorders in the Division of Human Genetics, University of Cape Town, there are three main accessibility barriers that continue to hinder progress: finance, resources, and data. “In Africa, eye health competes for resources against other priority diseases, including infectious diseases, parasitic diseases and nutrition-related conditions,” she says. “As a result, the resources allocated to eye health by governments are limited.” Roberts explains that the capacity, too, is stretched, with the number of eye healthcare personnel dramatically below the recommended level and unevenly distributed geographically.
Additional challenges behind the widespread adoption of precision medicine in Africa include the high costs of advanced technologies, such as next generation genetic sequencing platforms, as well as the lack of access to local professionals – clinicians, scientists and genetic counselors – who specialize in ophthalmic genetics. Integrated national health information systems, where clinical and genetic data can be collected, stored and analyzed, may also help. “African countries should invest in education and training to develop skilled workforces and local expertise that meets their local needs,” Roberts adds. “This involves upskilling current professionals in the latest developments, through ongoing training, and strengthening research in ophthalmology and vision science by providing funding to encourage local innovations.”
Roberts’ objectives will likely rest upon government funding to support research institutions and healthcare infrastructure, along with the incentivization of public-private partnerships. Of course, community engagement should be at the core of all such strategies, as patient involvement is essential to develop programmes that can meet their needs. These measures could improve awareness and understanding of ophthalmic genetics among healthcare providers, while also helping to develop specialized training and improved referral pathways for experts. “In short,” Roberts concludes, “sustainable implementation of precision ophthalmology will require ongoing funding and training.”
This article first appeared in The New Optometrist.
