South Africa is home to one of the most genetically diverse populations in the world, which, combined with its high
disease burden and high-quality infrastructure, makes our country a prime location for conducting genetics and
genomics research. South African genomes are therefore highly sought after by the global research community.
Increasingly, a range of technological advances, including the possibility of ‘reading’ whole genomes or exomes
through next-generation sequencing, allows access to detailed molecular information from which information
about health and disease can be inferred. This reading may also occur when information is collected for different
purposes, which raises questions about the ethics of inferring information about health and disease in these
situations. Against this backdrop of technological and ethical complexity, there is an urgent need to understand and
protect the interests of patients and individuals who participate in research in the fields of genetics and genomics.
This consensus study was undertaken under the auspices of the Academy
of Science of South Africa.