Weighing Hope: Living at Risk for Huntington Disease

If you had a parent with Huntington Disease, you would have a 50:50 chance of also having the disease. That's a very high risk - flip a coin - for a disease that has no cure. To make matters worse, the risk itself could strain relationships, lead to social stigmatization and even discrimination. So, if you were at risk for the disease, but had thus far declined a diagnostic, genetic test, would you tell your co-workers, friends and family members about your risks?

Before assuming that you would share news of this risk with all the important people in your life, you might want to read a recent publication by lead author Kimberly A. Quaid, a PredictER team member. In "Living at risk: concealing risk and preserving hope in Huntington Disease" (Quaid KA, Sims SL, Swenson MM, et al. J Genet Couns. 2008 Feb;17(1):117-28. Epub 2007 Oct 18. PMID: 17943424), Quaid et al report the results of open-ended, qualitative interviews of 55 individuals at risk for the disease. Although research on the psycho-social impact of living with the knowledge of genetic risk for Huntington Disease often focuses on the decision of whether or not to be tested and/or whether or not to share the test result, this paper is unique in that it examines: 1) the decisions of those who have not received a genetic test and 2) the ongoing, daily decisions to both disclose and conceal this risk information. After reviewing the unstructured interviews, the authors conclude that some people chose to conceal their risks for many valid reasons, including: to protect themselves from discrimination, to identify the best circumstances in which to share the information with loved ones (especially young children) and to preserve personal hope that they will not succumb to the disease. Quaid et al also remind us that: "Choosing to be tested is, in a way, a decision to disclose one's real risk to oneself. Participants' choosing not to be tested is not denial but a positive way to preserve both hope and their identities as people with a future". The authors encourage clinicians to respect a patient's desire not to be tested. For some patients a genetic test for an incurable disease will not provide helpful information; in fact, for some, the "knowledge … of HD may serve to destroy hope".