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Genetic Testing
Pronunciation
Definition 1
Analyzing DNA to look for a genetic alteration that may indicate an increased risk for developing a specific disease or disorder. (NCI Dictionary)
Definition 2
The process of isolating and testing the DNA of an embryo or a person to detect the presence of genetic alterations or defects that may predispose to the future development of a disease or disorder. (NCI Thesaurus)
More information
Genetic tests are tests on blood and other tissue to find genetic disorders. Over 2000 tests are available. Doctors use genetic tests for several reasons. These include
• Finding genetic diseases in unborn babies
• Finding out if people carry a gene for a disease and might pass it on to their children
• Screening embryos for disease
• Testing for genetic diseases in adults before they cause symptoms
• Making a diagnosis in a person who has disease symptoms
• Figuring out the type or dose of a medicine that is best for a certain person
People have many different reasons for being tested or not being tested. For some, it is important to know whether a disease can be prevented or treated if a test is positive. In some cases, there is no treatment. But test results might help a person make life decisions, such as family planning or insurance coverage. A genetic counselor can provide information about the pros and cons of testing. (NIH: National Human Genome Research Institute)
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