Continuing Medical Education

New genetic testing technologies: Advantages and limitations

A Krause


Genetic testing has been available for many years. Recently, the potential for increased and more precise diagnostic testing has expanded, with the introduction of next-generation sequencing technologies. Testing is complex and requires the experience of medical geneticists and genetic counsellors to assist in selecting the most appropriate test for a patient, as well as in interpreting the large data sets that arise from such testing. The most appropriate test for a patient may require analysis of only one base of DNA, or one gene, one panel, a whole exome or a whole genome. The interpretation of positive findings is challenging and requires careful distinction between benign and pathogenic variants. Variants of uncertain significance occur; unexpected findings are not infrequent and require careful interpretation and management. The paucity of data on normal variation poses specific challenges on the African continent.

Author's affiliations

A Krause, Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa

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New genetic testing; Advantages; Limitations

Cite this article

South African Medical Journal 2019;109(4):207-209. DOI:10.7196/SAMJ.2019.v109i4.13990

Article History

Date submitted: 2019-03-29
Date published: 2019-03-29

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