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Definition
By Mayo Clinic staffGenetic testing involves examining your DNA, the chemical database that carries instructions for your body's functions. Genetic testing can reveal changes or alterations in your genes that may cause illness or disease.
Although genetic testing can provide important information for diagnosing, treating and preventing illness, there are limitations. For example, if you're a healthy person, a positive result from genetic testing doesn't always mean you will develop a disease. On the other hand, in some situations, a negative result doesn't guarantee that you won't have a certain disorder.
Talking to your doctor or a genetic counselor about what you will do with the results is an important step in the process of genetic testing.
- Frequently asked questions about genetic testing. National Human Genome Research Institute. http://www.genome.gov/19516567. Accessed Nov. 3, 2008.
- Genetics home reference: Genetic testing handbook. U.S. National Library of Medicine. http://ghr.nlm.nih.gov/handbook/testing/genetictesting. Accessed Nov. 3, 2008.
- Hunter DJ, et al. Letting the genome out of the bottle — Will we get our wish? The New England Journal of Medicine. 2008;358:106.
- Ensenauer RE, et al. Medical genomics: Primer on medical genomics part VIII: Essentials of medical genetics for the practicing physician. Mayo Clinic Proceedings 2003;78:846.
- Gene testing: Human Genome Project information. Human Genome Program. http://www.ornl.gov/sci/techresources/Human_Genome/medicine/genetest.shtml. Accessed Nov. 3, 2008.
- Kaye CI. Newborn screening fact sheets. Pediatrics. 2006;118:934.
- Pinksy, L. Overview of genetic assessment. http://www.uptodate.com/home/index.html. Accessed Nov. 3, 2008.
- Genetic testing: What it means for your health & for your family's health. National Human Genome Research Institute. http://www.genome.gov/Pages/Health/PatientsPublicInfo/GeneticTestingWhatItMeansForYourHealth.pdf. Accessed Nov. 3, 2008.
- Understanding cancer series: Gene testing. National Cancer Institute. http://www.cancer.gov/cancertopics/understandingcancer/genetesting. Accessed Nov. 12, 2008.
