Motivations and psychosocial impact of genetic testing for HNPCC

A type of hereditary colorectal cancer (CRC) known as hereditary nonpolypos is colorectal cancer (HNPCC) is associated with MLH1 and MSH2 gene mutation s. This study consists of a pilot, cross-sectional study of 50 individuals who were engaged in the genetic testing process for HNPCC. The study invest igated the motivations and attitudes around genetic testing and current psy chosocial functioning through the use of standardized measures, as well as obtained in-formation on disclosure patterns associated with test results. The mean age of the sample was 44.3 years. (SD = 15.0). Twenty-three indivi duals were identified as "carriers" (13 had a previous history of CRC), sev en were "non-carriers" and 20 individuals were still awaiting test results. The primary motivations for participating in genetic testing were similar to previous reports and included: wanting to know if more screening tests w ere needed, obtaining information about the risk for offspring and increasi ng certainty around their own risk. The psychosocial scores demonstrated th at a subgroup of individuals exhibited distress, with greater distress for those individuals awaiting results or testing positive. There was a high le vel of satisfaction associated with the experience of testing. Individuals in this study tended to disclose their test results to a variety of family and non-family members. Disclosure was primarily associated with positive e xperiences however, some individuals reported regret around disclosure of t heir results. These preliminary findings should be further explored in a la rger prospective study design over multiple time points. (C) 2001 Wiley-Lis s, Inc.