A genetic test is any analysis used to look at a person’s genetic make-up. Genetic tests are usually performed on a blood sample, however tissue or cheek cell samples may also be used in some cases. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder.
Genetic testing may help diagnose and treat a medical problem. A person found to have an increased risk of disease might choose preventative or therapeutic medical treatments. Knowing about a certain disease gene might also provide important health information for a person’s family.
The physical risk of genetic testing is usually minimal, typically not more than providing a blood or tissue sample. However, the greatest concern pertains to the way a genetic test result might change a person’s life. Genetic testing may not give clear answers and it may raise new concerns about a person’s health. A genetic test may reveal unexpected relationships, such as non-paternity (a different biological parent). Genetic tests may also raise concerns with a person’s ability to obtain health, life, disability or long-term care insurance; however there are laws stating that employers and insurance companies cannot discriminate based on genetic information.
Your test results may be released to your health insurance company, to other health care providers as designated by your provider or other parties covered in the Release of Information (ROI), signed at your first visit. The length of time that a specimen is stored will depend on the facility that processes the sample (typically 2 to 10 years).
Your health care provider will send you your results by mail or discuss the results with you over the phone. Your health care provider may also request that you come in for an office visit to discuss the results.
A negative test result means that the laboratory did not find a genetic change. This result can indicate that a person is not affected by a particular disorder, is not a carrier of a specific genetic mutation, or does not have an increased risk of developing a certain disease. A negative test does not always rule out the presence of every gene change that could cause a disease. Further testing may be required to confirm a negative result.
A positive test result means that the laboratory found a particular genetic change. Depending on the purpose of the test, this result may confirm a diagnosis, indicate that a person is a carrier of a particular genetic mutation, identify an increased risk of developing a disease (such as cancer) in the future, or suggest a need for further testing.
In some cases, a test result falls in between the positive and negative range. This type of result is called uninformative, indeterminate, inconclusive, or ambiguous. In such cases, it may not be possible to tell whether a person has a gene change that can cause a disease.
U.S. Department of Health and Human Services