Predictive testing for Huntington disease in Canada: The experience of those receiving an increased risk

Abstract

Predictive testing for Huntington disease (HD) has been offered in some parts of Canada for nearly 5 years. Candidates who were expected to have a significant likelihood for psychological problems were those who received an increased risk for developing HD. Sixty-six persons have now received such an increased risk result. In this manuscript we describe in detail the experience of 4 such persons who were chosen to illustrate recurrent and common themes which have emerged during counselling, and to highlight the strategies of coping with this information. Themes include difficulties communicating about HD, defensive postures adopted in preparing for testing, ramifications of testing for the whole family, and the impact of being at high risk on the candidates' perception of the future. One candidate has had testing postponed due to active suicidal risk. Only a few candidates have expressed regret at taking the test and no person receiving an increased risk result has made a suicide attempt or required hospitalization. After receiving results, symptoms of depression and anxiety are most common in the first 2 months, but over 1 year, candidates, in general, have less depression but live with a heightened perception of the present. The potential risk of premature diagnosis of HD in an individual with an increased risk results is highlighted. The significant ramifications of testing for the relative are shown. The importance of communication as a means of establishing a social support network, as well as the hazards of open communication, are discussed. Longitudinal evaluation will provide much needed data on the long-term effects of living at increased risk for HD.

Personal Factors Associated with Reported Benefits of Huntington Disease Family History or Genetic Testing

“…People who decide to have predictive testing may be less likely to question their abilities to cope if problems arise (Codori et al, 1994;Meiser and Dunn, 2000). Benefits of genetic testing include knowing one's genetic status, having an increased appreciation for the present, having information for reproductive decisions, and acquiring significant life knowledge (Bloch et al, 1992;Decruyenaere et al, 2004Decruyenaere et al, , 2007Taylor, 2004). After completing genetic testing, some people with positive or negative results report starting new relationships, and some who are in a partner relationship report increased communication and support from partners (Decruyenaere et al, 2004).…”

Psychological consequences of predictive genetic testing: a systematic review

“…[2][3][4][5][6][7][8][9][10][11][12][13][14][15][16] Reasons for excluding the remaining papers were as follows: 10 were reviews, 17-26 10 were qualitative, [27][28][29][30][31][32][33][34][35][36] seven reported only pre-test measures, [37][38][39][40][41][42][43] two were of respective attitudes towards testing or used unstandardised measures, 44,45 and one did not report outcomes for unaffected participants separately from those affected. 46 One small sample, crosssectional study 47 was also excluded as it was preliminary to larger, prospective studies conducted by the same group.…”

“It was the missing piece”: adolescent experiences of predictive genetic testing for adult-onset conditions

“…10 There have been numerous studies reporting the effects of predictive testing for childhood-onset conditions such as familial adenomatous polyposis [11][12][13][14] and the effects of predictive testing in adults for adult-onset conditions. [15][16][17][18][19][20][21] Conversely, few studies have examined the impact of testing on young people, and none have specifically considered minors tested for adult-onset conditions. An international survey in 2005 showed that some clinicians are providing predictive tests to minors in particular circumstances; 22 however, the outcomes are poorly studied.…”