Course of distress experienced by persons at risk for an autosomal dominant inheritable disorder participating in a predictive testing program: an explorative study. Rotterdam/Leiden Genetics Workgroup.

Abstract

To compare the effects of predictive DNA testing on participants at risk for either Huntington disease (HD), or familial adenomatous polyposis (FAP), or hereditary breast and ovarian cancer (HBOC). Psychological distress was measured with the Impact of Event Scale before testing and at 1 week and 6 months after the test result, in individuals at 50% risk for either HD (N = 25), FAP (N = 23), or HBOC (N = 10). A marginally significant trend was found indicating that carriers of the disease genes tended to show unchanged levels of distress during the study period whereas noncarriers showed the expected decrease. Men reported significantly less distress than women, and 1 week after the test result male noncarriers showed a sharp significant increase in the reported distress followed by a steady decline up to 6 months later. The course of distress over time reported by carriers and noncarriers of the three disease genes was similar, which leads one to conclude that the previous experience with predictive testing for Huntington Disease may be a useful paradigm. However, those formerly at risk for HD reported more distress than those at risk for FAP and HBOC. From our clinical experience we learned that individuals at risk for FAP and HBOC are more inclined to ward off the emotions involved. Additional qualitative studies should be undertaken to investigate this.