Adverse Effects of Predictive Testing for Huntington Disease Underestimated: Long-Term Effects 7-10 Years After the Test.

Abstract

The 7-10-year psychological effects of presymptomatic testing for Huntington disease are described in 142 individuals and 104 partners. Questionnaires included the Beck Hopelessness Scale (A. T. Beck, A. Weissman, D. Lester, & L. Trexler, 1974), the Impact of Event Scale (M. J. Horowitz, N. Wilner. & W. Alvarez. 1979). and the General Health Questionnaire (D. P. Goldberg. 1972). Carriers and their partners were more distressed immediately after the test result, although their outlooks improved somewhat in the 2-3-year posttest period. However, they became more pessimistic thereafter, when approaching the age of onset. Carriers, who were lost to follow-up after disclosure of test results, reported more distress pretest than did retained carriers. This demonstrates that studies that report few harmful effects may have underestimated the real impact. Moreover, follow-up studies need to investigate time effects for longer than a few years.

Experiences of predictive testing in young people at risk of Huntington’s disease, familial cardiomyopathy or hereditary breast and ovarian cancer

“…There is some evidence in the HD literature that individuals who drop out of follow-up may be among the group of patients with greatest needs as they start to develop symptoms. 9 Other authors have also advocated the particular importance of genetic counselling follow-up for individuals tested young for BrCa 16 and FAP. 14 In our Centre individuals at risk of HD and HBOC are among those kept under long-term follow-up through our genetic family register service.…”

“…While most studies and reviews report an overall adjustment in the first couple of years post predictive testing, [5][6][7][8] distress levels may start to rise again later, presumably as the time approaches to possible disease onset. 9 Further, individuals may experience difficulties in specific areas of their lives such as family communication 10,11 and discrimination at home and in the work place or with insurance. 12 How young adults choosing to test early cope with such challenges and to what extent pretest counselling provides adequate support and preparation, has not been fully explored.…”

Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington’s disease, Machado-Joseph disease, and familial amyloid polyneuropathy

“…[7][8][9][10]13,14 Although most report on short-term results of PST, some literature already presents long-term psychosocial impacts of HD predictive testing. 3,11,[14][15][16][17][18][19] Two very specific Portuguese diseases, MJD and FAP, also follow a severe neurodegenerative pathway and remain until now without an effective treatment or cure. For MJD, it is important to highlight the frequency of cerebellar ataxia, progressive external ophthalmoplegia, and pyramidal signs.…”

“…7,13,[30][31][32][33] Those studies have generally shown a decrease in anxiety scores from the pre-test to the post-test evaluation. 2,13 The few midand long-term studies available suggest that, in general, there is an absence of negative impact after some years, 11,16,19 specifically in relation to anxiety levels. The study by Decruyenaere et al 15 indicates a decrease in the score for anxiety in the long run.…”

Neuroprotection for Huntington’s Disease: Ready, Set, Slow

“…44 A design to perform doubleblinded genetic testing and provide placebo to genenegative individuals and active compound to gene-positive individuals might also be feasible, although it would be complicated to administer. These will be important considerations in designing clinical trials in premanifest HD-something for which there is no road map.…”