Three-year follow-up after presymptomatic testing for Huntington's disease in tested individuals and partners.

Tibben, Aad; Timman, Reinier; Bannink, Erna C.; Duivenvoorden, Hugo J.

doi:10.1037/0278-6133.16.1.20

Cited by 122 publications

(147 citation statements)

References 26 publications

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“…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.…”

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confidence: 99%

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

Mand

Gillam

Duncan

et al. 2013

Genetics in Medicine

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Original research articlePredictive genetic testing for adult-onset conditions, such as Huntington disease (HD) and some familial cancers, is available to adults at risk. Conversely, there is ongoing controversy with regard to testing young people, specifically those younger than 18 years, who are at risk for adult-onset genetic conditions for which there are no effective medical interventions available before adulthood.International guidelines recommend that testing be deferred until an individual is competent to make an informed, autonomous decision regarding testing. [1][2][3][4][5] Recently revised guidelines specific to the testing of HD recommend that predictive testing not take place until an individual reaches the age of majority. 6,7 More than two decades since the publication of the first guidelines, considerable disagreement between commentators remains. 8 The ethical debate concerning predictive genetic testing in young people has become mired in a conflicting set of opinions, assumptions, and speculation, with little relevant evidence to inform these. 9 Two overarching concerns dominate the arguments against predictive genetic testing in young people: (i) young people lack the competence to comprehend the significance of a predictive genetic test and may regret their decision later in life, and (ii) young people who receive a gene-positive test result (the presence of the relevant family mutation) are at risk of adverse psychosocial consequences. This debate is situated within a context of knowledge that most adults at risk for HD choose not to undergo predictive genetic testing. 10 There have been numerous studies reporting the effects of predictive testing for childhood-onset conditions such as familial adenomatous polyposis 11-14 and the effects of predictive testing in adults for adult-onset conditions. 15-21 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.The current study aimed to (i) gauge the impact on young people of predictive testing before 18 years, (ii) identify factors that mediate the testing experience, and (iii) assess whether evidence exists to support the central concerns raised in the existing literature with respect to testing young people. The study addressed only self-initiated requests by adolescents, not young children. METHODSParticipants were recruited from two Australian states. At the time of data collection, 10 individuals had undergone predictive testing for an adult-onset condition before the age of 18 years in these two states. Nine agreed to participate. The tenth was unable to do so because he was traveling.In one state, all the young people had instigated testing by requesting a test themselves. In the other state, some young people received a letter outlining testing options for them. ...

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confidence: 99%

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

Mand

Gillam

Duncan

et al. 2013

Genetics in Medicine

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“…1,3,6 HD, MJD, and FAP are incurable, highly debilitating, and may exhibit a broad spectrum of symptoms. 7 HD is the most studied of these three, 3,8,9 largely due to the early discovery of its relevant genetic marker. 10 A PST protocol for subjects at risk for HD was first used in 1986 in Canada and in the U.S., 11,12 being extended to Europe in the 1990s.…”

Section: Introductionmentioning

confidence: 99%

“…7 HD is the most studied of these three, 3,8,9 largely due to the early discovery of its relevant genetic marker. 10 A PST protocol for subjects at risk for HD was first used in 1986 in Canada and in the U.S., 11,12 being extended to Europe in the 1990s. Those programs have resulted, in the past 20 years, in numerous studies about the importance of PST.…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…[1][2][3][4][5] PST can be used to assist in the prediction of who will develop late-onset disease symptoms in the future. 1,3,6 HD, MJD, and FAP are incurable, highly debilitating, and may exhibit a broad spectrum of symptoms. 7 HD is the most studied of these three, 3,8,9 largely due to the early discovery of its relevant genetic marker.…”

Section: Introductionmentioning

confidence: 99%

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

Lêdo

Leite

Souto

et al. 2016

Rev. Bras. Psiquiatr.

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Objective: To study anxiety as a variable of the mid-and long-term psychological impact of presymptomatic testing for three autosomal dominant late-onset disorders -Huntington's disease (HD), Machado-Joseph disease (MJD) and familial amyloid polyneuropathy (FAP) TTR V30M -in a Portuguese sample. Methods: This cross-sectional study included 203 participants: 170 (83.7%) underwent pre-symptomatic testing for FAP, 29 (14.3%) for HD, and 4 (2%) for MJD. Of the 203 participants, 73 (36.0%) were asymptomatic carriers, 29 (14.5%) were symptomatic carriers, 9 (4.5%) were diagnosed with FAP and had a liver transplant, and 89 (44.5%) were non-carriers. Most were women (58.1%) and married (66.5%). The anxiety variable was assessed using the Zung Self-Rating Anxiety Scale (SAS). Results: The anxiety scores were higher for symptomatic carriers and for those who underwent psychological support consultations over the years. For symptomatic carriers, the mean scores were superior to 40 points, which reflects clinical anxiety. Conclusion: Although it was not possible to differentiate between the mid-and long-term psychological impacts, this study supports the conclusion that the proximity to the age of symptoms onset might be a trigger for anxiety.

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Distress in individuals facing predictive DNA testing for autosomal dominant late-onset disorders: Comparing questionnaire results with in-depth interviews

Tibben

et al. 1998

Am. J. Med. Genet.

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In 50% risk carriers for Huntington disease (n = 41), hereditary cerebral hemorrhage with amyloidosis Dutch-type (n = 9) familial adenomatous polyposis coli (n = 45) and hereditary breast and ovarian cancer (n = 24), pretest intrusion and avoidance (Impact of Event Scale), anxiety and depression (Hospital Anxiety and Depression Scale), feelings of hopelessness (Beck Hopelessness Scale), and psychological complaints (Symptom Checklist) were assessed to determine their psychological well-being. The manner of discussing the genetic disorder, the test, and its implications during a semistructured interview (reflecting on one's emotions without getting carried away or dismissing or minimizing the subject) was judged in terms of coherence. Participants at risk for neurodegenerative disorders had higher anxiety and depression scores and more psychological complaints than did those at risk for cancer syndromes. Those reporting high intrusion/high avoidance had higher anxiety and depression scores and more psychological complaints than did those reporting low intrusion/low avoidance. However, the scoring of the interview showed that participants reporting high intrusion/high avoidance were more reflective about their emotions without getting carried away or dismissing the subject (e.g., more coherent) than those reporting low intrusion/low avoidance. This result suggests that participants with higher stress scores may be actively dealing with the emotional implications of the test, whereas those with low stress scores may (as yet) be unable to face these implications. It is important to identify the strategy of coping with threat to provide suitable counseling and necessary guidance. However, long-term follow-up is needed to learn the consequences of a denial coping strategy for those participating in a genetic testing program.

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Three-year follow-up after presymptomatic testing for Huntington's disease in tested individuals and partners.

Cited by 122 publications

References 26 publications

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

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

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

Distress in individuals facing predictive DNA testing for autosomal dominant late-onset disorders: Comparing questionnaire results with in-depth interviews

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