DNA‐Testing for Huntington's disease in The Netherlands: A retrospective study on psychosocial effects

Tibben, Aad; Vlis, Maria Vegter-van der; Skraastad, M. I.; Frets, Petra G.; Kamp, Jacques J. P. Van Der; Niermeijer, Martinus F.; Ommen, Gert‐Jan B. van; Roos, Raymund A.C.; Rooijmans, H. G. M.; Stronks, Dick; Verhage, F.

doi:10.1002/ajmg.1320440122

Cited by 79 publications

(69 citation statements)

References 24 publications

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“…17,21,[29][30][31][32][33][34][35] Studies exploring the impacts of informing adults at risk of either a familial cancer or a lateonset condition (e.g., HD) found that for people harboring a strong desire to know, receiving a gene-positive result was psychologically less deleterious than the anxiety associated with uncertainty. 36,37 In adults, a form of self-selection has been proposed, whereby those who choose testing might have greater psychological capacity to cope with test results.…”

Section: Discussionmentioning

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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Section: Discussionmentioning

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

View full text Add to dashboard Cite

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“…[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. Design All studies employed prospective designs with a predisclosure baseline assessment and between one and four assessments post disclosure (Table 1).…”

Section: Papers Selected For Reviewmentioning

confidence: 99%

Psychological consequences of predictive genetic testing: a systematic review

2000

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The aim of this systematic literature review is to describe the psychological consequences of predictive genetic testing. Five databases were searched for studies using standardised outcome measures and statistical comparison of groups. Studies were selected and coded by two independent researchers. From 899 abstracts, 15 papers, describing 11 data sets, met the selection criteria for the review. The studies were of predictive genetic testing for Huntington's disease, hereditary breast and ovarian cancer, familial adenomatous polyposis and spinocerebellar ataxia. One involved children; the rest were of adults. None of the 15 papers reported increased distress (general and situational distress, anxiety and depression) in carriers or non-carriers at any point during the 12 months after testing. Both carriers and non-carriers showed decreased distress after testing; this was greater and more rapid amongst non-carriers. Test result (ie being a carrier or non-carrier) was rarely predictive of distress more than one month after testing (predictive in two of 14 analyses). Pre-test emotional state was predictive of subsequent distress in 14 of 27 analyses. There is a lack of informative studies in this field. The studies reviewed suggest that those undergoing predictive genetic testing do not experience adverse psychological consequences. However, the studies are of self-selected populations who have agreed to participate in psychological studies and have been followed up for no more than three years. Most research has been of testing for Huntington's Disease and included follow-up of no more than one year. The results suggest that testing protocols should include a pre-test assessment of emotional state so that post-test counselling can be targeted at those more distressed before testing. None of the studies experimentally manipulated the amount or type of counselling provided. The relationship between counselling and emotional outcome is therefore unclear and awaits empirical study.

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“…However, the failure to experience relief after being identified as a non-carrier has been described for Huntington's disease. Tibben et al (1992) and Huggins et al (1992) presented data of non-carriers that express survivor guilt, emotional numbness and difficulty in coping with the effects of the test results on the family system. Our data suggest that survivor guilt might also be present in Austrian non-carriers and it will need further investigation with questionnaires addressing survivor guilt.…”

Section: Depression Symptomsmentioning

confidence: 99%

Attitude towards prophylactic surgery and effects of genetic counselling in families with BRCA mutations

et al. 2000

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Mutation analysis of the BRCA1 and BRCA2 genes has become widely available to hereditary breast and ovarian cancer families (HBOC) or breast-cancer-only families (HBC) in North America and Europe. To date, hundreds of these families have been identified with BRCA mutations and the majority has received counselling regarding the test results. Follow-up care of mutation carriers has focused on cancer surveillance and surgical options (Burke et al, 1997). However, little is known about the impact carrier status has on the development of depression, or the resulting changes in the individual's body image (Lerman et al, 1996Croyle et al, 1997;Lynch et al, 1997). In the Lerman et al (1996) study population, 18% stated their intent to undergo prophylactic mastectomy (PM) and 33% stated their intent to under prophylactic oophorectomy (PO). The motivational issues involved in deciding for or against prophylactic surgery, however, still await detailed study. Similarly, hardly anything is known about the feelings associated with this decision or their effect on the individual's quality of life in general.The major aim of this study was to study the attitude of mutation carriers in regard to PM and PO. Furthermore, it assessed the short-term effect of knowledge about carrier status on the occurrence of depression. PATIENTS AND METHODS Study populationA total of 138 individuals, from 35 families, that had been selected and counselled through the genetic counselling service of the Division of Senology, University of Vienna, were enrolled on the basis of previously detected BRCA1 or BRCA2 mutations. None of the family members had received the results of the BRCA testing. All individuals who requested their results were informed about this study. Family members who elected to participate gave their written consent. Prior to mutation result disclosure and counselling study participants received the first questionnaire of this study. The sequence in which the various elements of the survey were conducted is depicted in Figure 1.All female mutation carriers are examined every 6 months for the purposes of cancer surveillance and psychosocial follow-up. The observation period for this study began in January 1996 and is currently still being continued. This study was approved by the University of Vienna Institutional Review Board. Attitude of mutation carriers towards the option of PM and/or POFemale mutation carriers received a questionnaire comprising 12 items concerning PM and 11 items concerning PO to be rated on a five-point scale. Since the relevant literature does not provide a standardized questionnaire on this subject, two special questionnaires were developed on the basis of past conversations with SummaryThe intent of this study was to evaluate the effect that an awareness of being a BRCA1 or BRCA2 mutation carrier has on the attitude towards prophylactic surgery and on developing depression symptoms. Thirty-five families were selected on the basis of previously detected BRCA1 or 2 mutations and 90 family members were giv...

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DNA‐Testing for Huntington's disease in The Netherlands: A retrospective study on psychosocial effects

Cited by 79 publications

References 24 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

Psychological consequences of predictive genetic testing: a systematic review

Attitude towards prophylactic surgery and effects of genetic counselling in families with BRCA mutations

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