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 t...
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| Format: | Article |
| Language: | English |
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Health and Medical Publishing Group
2019-04-01
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| Series: | South African Medical Journal |
| Online Access: | http://www.samj.org.za/index.php/samj/article/download/12587/8799 |
| Summary: | 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. |
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| ISSN: | 0256-9574 2078-5135 |