Genetic testing can serve many different purposes, from diagnostic testing for symptomatic disease to predictive testing for diseases that won’t set in for years. When used properly and in the context of adequate informed consent, the results of genetic testing can improve health and help guide lifestyle choices.
Relieve Anxiety
Some people who have witnessed family members suffer from a genetic disease assume that they will face the same fate. Despite consciously acknowledging that their risk may only be 25 or 50 percent to have inherited the condition, they may perceive their risk to be much higher. Learning one’s genetic status, if negative, can settle these fears. Even a positive test result can relieve some anxiety. Armed with a definitive test result, one can lay uncertainties to rest and begin to take steps to deal with the condition.
Understand Risks
A person who is experiencing symptoms of a genetic disease can use a positive test result to better understand their current condition. With a diagnosis, he can find out what can be done now to alleviate symptoms and what should be expected in the future. A person undergoing predictive genetic testing for a disease that has yet to manifest can learn more about the challenges he faces and what treatments may be available.
Steps for the Future
Once a person understands their genetic status for a particular disease, he or she can find out what steps to take next. For example, someone who finds out that he carries the gene mutation for Huntington disease may research clinical trials that may offer hope of a treatment. In another setting, a woman who finds out that her unborn child will have a genetic disease can discuss her options with a genetic counselor. With some genetic diseases, starting on a medication regimen early can help prevent certain symptoms.
Explain Disease
The results of a genetic test can answer nagging questions about why a disease occurred. For example, a woman who develops breast cancer at an early age may wonder whether lifestyle choices she made or medications she took caused her illness. Finding out that a genetic mutation was the primary risk factor can alleviate guilt and provide an explanation.
Disease Prevention
Once a person has been identified as carrying a genetic mutation that can be passed on to their children, they may wish to take steps to avoid its transmission. For some conditions, there are options for prenatal diagnosis and assisted reproductive technologies to avoid conceiving a child with the condition that runs in the family. Families that do not want to pursue such testing or technologies may decide not have not children or to adopt.
