- Determining sex
- Carrier screening, or the identification of unaffected individuals who carry one copy of a gene for a disease that requires two copies for the disease to manifest
- Prenatal diagnostic screening
- Newborn screening
- Presymptomatic testing for predicting adult-onset disorders
- Presymptomatic testing for estimating the risk of developing adult-onset cancers
- Confirmational diagnosis of symptomatic individuals
- Forensic/identity testing
Some genetic tests are already available, although most of them are used in developed countries. The tests currently available can detect mutations associated with rare genetic disorders like cystic fibrosis, sickle cell anemia, and Huntington’s disease. Recently, tests have been developed to detect mutation for a handful of more complex conditions such as breast, ovarian, and colon cancers. However, gene tests may not detect every mutation associated with a particular condition because many are as yet undiscovered, and the ones they do detect may present different risks to different people and populations.[8]
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