Continuing Medical Education
New genetic testing technologies: Advantages and limitations
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.
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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Date published: 2019-03-29
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