Genomic medicine has been applied to a number of areas of healthcare, including perinatal testing and newborn screening for monogenic diseases, cancer screening and treatment, rare disease diagnosis and treatment, pharmacogenomics and sequencing of pathogen genomes. However, most of these activities have been restricted to developed countries. Some of the key barriers to the implementation of genomic medicine worldwide, but more pronounced in developing countries include clinical and data infrastructure, regulatory environments, integration of new technologies into clinical practice, and cost. Knowledge and evidence generation are also essential elements which are constantly evolving as new genomes are sequenced and genome-wide association studies are undertaken. In Africa, due to under-representation of African populations in such studies, knowledge and evidence for actionability on genomics data are lagging behind the developed world. This, along with poorer resources and infrastructure limitations, means that African countries need to overcome greater barriers to implement genomic medicine, but this is by no means an impossible task, challenges can be addressed in a stepwise manner.
The aim of this framework document is to highlight these elements within the African context and provide some recommendations on how African countries can work on putting them in place by building on existing infrastructure.