Continuing Medical Education

New genetic testing technologies: Advantages and limitations

A Krause

Abstract


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

Full Text

PDF (95KB)

Keywords

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

Article Views

Abstract views: 355
Full text views: 439

Comments on this article

*Read our policy for posting comments here