Insights into the genetic aetiology of diabetes in Africa

Despite the high public health burden of diabetes in Africa, research into its genetic aetiology has been slow, limiting the continent's ability to benefit from an emerging era of diabetes precision medicine. Some progress is evident. In monogenic diabetes, where a molecular diagnosis enables tailored treatment, two cases from Africa successfully illustrate this approach despite the absence of routine affordable genetic testing, and control data from diverse African populations. Although limited, genome-wide association studies from African populations have discovered novel African-specific type 2 diabetes risk variants. Additionally, application of a type 1 diabetes genetic score helped define a novel type of insulin deficient non-autoimmune diabetes in sub-Saharan Africa. Multiple challenges remain, including interpretation of glycated haemoglobin, a frequently used diabetes biomarker, which is impacted by genetic variants common in the African continent. We review these issues, outline barriers to implementing diabetes precision medicine, and highlight areas for future development.