Making Sense of a Positive Genetic Test Result for Huntington Disease

This exploratory study will examine ways in which individuals approach a positive genetic test for Huntington Disease (HD). HD is a neurodegenerative disorder that causes emotional, cognitive, and movement problems, and currently there is no way to prevent, stop or reverse the progression of the disease. It is passed down through a mutation in a normal gene, and each child of an HD parent has a 50-50 chance of inheriting the HD gene. The study is designed to explore how individuals adjust to their new genetic status and evaluate any perceived mental or emotional barriers to that adjustment. Currently, little is known about how individuals come to terms with a positive genetic test result for a condition that has no known cure or effective treatment. The results of this study may give health care providers and counselors more information about how to help patients who are at risk for developing HD make sense of their new genetic status.

Candidates will be prescreened and referred to the study by clinics that specialize in genetic testing and counseling. Candidates must be 18 years old or older and must have received a positive genetic test result for HD at least one month prior to the study. They must also perceive themselves to be asymptomatic-that is, without existing HD symptoms.

During the study, participants will be interviewed and asked a series of questions about their decision to pursue testing, their life since the testing, and the things that they have found helpful or unhelpful since receiving the test results. The interviews will be recorded and will last approximately 60 minutes. Participants also will receive a follow-up phone call within two to three days to ensure their general psychological well-being after the interview.