Huntington’s disease, also referred to as Huntington’s Chorea, is an inherited disorder than affects approximately 30,000 people in the United States alone. This disease is characterized by degeneration of not only physical but mental capabilities. It used to be that the individual had no indication of being victim until the signs and symptoms became apparent but due to advancement in technologies, genetic testing for Huntington’s disease is now available. However, this is a very personal choice and there are many factors to consider.
Who May Want to Consider Genetic Testing for Huntington’s disease?
Those at risk for developing this degenerative disease include individuals with a family history of the disease. According to the Family Caregiver Alliance, all offspring of the patient suffering from Huntington’s disease has a fifty percent chance of inheriting this disorder. However, this does not guarantee that the individual will develop it. Although there have been a few cases where a family history is not present, this is believed to be caused by misdiagnosis of the condition. In previous years, patients suffering from Huntington’s may have been diagnosed with Parkinson’s disease and other conditions that somewhat mimic the effects of Parkinson’s. Therefore, candidates for genetic testing for Huntington’s disease include the offspring of a parent with the condition.
What Kinds of Genetic Testing for Huntington’s Disease Are There?
There are two main tests that are performed in screening for Huntington’s chorea. These genetic tests are often referred to as the pre-symptomatic and confirmatory tests. The first test, the pre-symptomatic is performed when there are no signs and symptoms but the individual is at risk for developing the condition. This test can be performed at an early age, even before birth. When the infant is tested for the gene, it is called prenatal testing and is performed through an amniocentesis or through chorionic villus sampling. Confirmatory tests are utilized to confirm the patient is suffering from the disease when signs and symptoms are present.
How is the Genetic Testing Performed?
There are multiple components of genetic testing for Huntington’s disease. First and foremost, testing is only available from a neurologist. However, the test itself is a simple blood test to screen for the presence of the HD gene. In addition to this, there are other exams involved and the process typically takes weeks. Genetic counseling regarding this disease typically involves various assessments, including physical, neurological and psychological exams. The blood test is read as either positive or negative.
Other Considerations for Genetic Testing of Huntington’s disease
Genetic testing for HD does not indicate when the patient will exhibit signs and symptoms of this progressive degenerative disease. Onset is typically gradual and is often not experienced until later in life, although early signs and symptoms have been noted in rare cases. Although many neurologists may be capable of performing such screenings, the Huntington’s Disease Society of America, (HDSA) recommends testing at facilities that are familiar with the disorder. A listing of HDSA approved centers can be found at www.hdsa.org.
Genetic Testing for Huntington’s Disease. Huntington’s Disease Society of America. Viewed 12, October 2010. http://www.lkwdpl.org/hdsa/hdtest.htm
Huntington’s Disease. Family Caregiver Alliance. September 2003. Viewed 12, October 2010. http://www.caregiver.org/caregiver/jsp/content_node.jsp?nodeid=574
Living at Risk. Huntington’s Disease Society of America. Viewed 12, October 2010. https://www.hdsa.org/living-with-huntingtons/family-care/living-at-risk.html