Genetic testing through companies like those founded by Jim Plante provide a broad range of information. Much of this information, unfortunately, is scary, and some of it is even devastating. Yet, people who ask to have this testing ordered by their medical practitioners can feel empowered by the knowledge they gain even if it is not what they had hoped for.
Huntington’s Disease Gene Mutation
DNA testing is commonly done to verify whether a person carries a significant risk for a serious disease. Usually, the test identifies a gene mutation that is a risk factor and not a certainty. In the case of Huntington’s disease, however, when the gene mutation is there, disease occurrence is certain if the person lives long enough. The onset of symptoms like clumsiness and unintentional twitching usually happens between the ages of 30 and 50.
Why Have the Test Performed?
What is the point of having this type of test done since there is no cure for the disorder? A woman with a high genetic risk of ovarian cancer may choose to have prophylactic surgery, but there is no similar option for someone with the Huntington’s gene mutation.
A primary reason is that the knowledge may provide motivation to make positive changes in life. The individual knows there is a likelihood he or she will become disabled at a relatively young age. The person may understand the importance of pursuing a career that has always seemed fascinating and spending more quality time with family and friends. Volunteer work may become more appealing.
A confirmation of the gene mutation also may factor into a young adult’s decision about whether to get married and have children. People with the gene variation may decide to pursue a career that will allow them to continue working even if their fine motor skills begin deteriorating to a certain extent.
Genetic counseling for the individual as well as close relatives is strongly encouraged before the test is performed. The emotional aftermath can be overwhelming even if the test turns out to be negative. Guilt is a common reaction when other relatives have the disease.