n South African Medical Journal - Implications of direct-to-consumer whole-exome sequencing in South Africa : editorial
Next-generation sequencing (NGS) has truly transformed human genetics and is now an integral discovery tool in the field. Whole-exome sequencing (WES) - an NGS application focused on the proteincoding regions of the human genome - has already bridged the bench-to-bedside divide internationally and is offered as a clinical test by several accredited laboratories. Clinical WES is not currently offered in South Africa (SA) for a number of reasons, including technological constraints, insufficient storage for the resulting large datasets, ethical considerations and limitations of our understanding of the impact of human genetic variants on health and in terms of clinical utility. The historical under-representation of individuals of black African descent in genomics research further complicates the interpretation of results obtained from WES data in black Africans.
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