The Psychological Consequences of Predictive Testing for Huntington’s Disease

Wiggins, Sandi; Whyte, Patti; Huggins, Marlene J.; Adam, Shelin; Theilmann, Jane; Bloch, Maurice; Sheps, Samuel B.; Schechter, Martin T.; Hayden, Michael R.

doi:10.1056/nejm199211123272001

Cited by 422 publications

(247 citation statements)

References 12 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. It appears that this is likely to hold true for young people also.…”

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

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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.…”

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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“…6 PT to determine risk status enables people to access benefits including: relieving uncertainty, reproductive planning, improved ability to plan for the future, access to support and research opportunities. [7][8][9] In keeping with the HD PT guidelines, 10 the PT process in British Columbia (BC), Canada usually involves three to four in-person appointments at the Center for HD in Vancouver to undergo physical exam, genetic counseling and education, psychosocial evaluation, results and follow-up 10,11 (Table 1). This process usually takes 4 weeks from initial appointment to the results session, and individuals are encouraged to bring a support person (eg, spouse), particularly to the results session (though this is not required).…”

Section: Introductionmentioning

confidence: 99%

When access is an issue: exploring barriers to predictive testing for Huntington disease in British Columbia, Canada

2012

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Predictive testing (PT) for Huntington disease (HD) requires several in-person appointments. This requirement may be a barrier to testing so that at risk individuals do not realize the potential benefits of PT. To understand the obstacles to PT in terms of the accessibility of services, as well as exploring mechanisms by which this issue may be addressed, we conducted an interview study of individuals at risk for HD throughout British Columbia, Canada. Results reveal that the accessibility of PT can be a barrier for two major reasons: distance and the inflexibility of the testing process. Distance is a structural barrier, and relates to the time and travel required to access PT, the financial and other opportunity costs associated with taking time away from work and family to attend appointments and the stress of navigating urban centers. The inflexibility of the testing process barrier relates to the emotional and psychological accessibility of PT. The results of the interview study reveal that there are access barriers to PT that deter individuals from receiving the support, information and counseling they require. What makes accessibility of PT services important is not just that it may result in differences in quality of life and care, but because these differences may be addressed with creative and adaptable solutions in the delivery of genetic services. The study findings underscore the need for us to rethink and personalize the way we deliver such services to improve access issues to prevent inequities in the health care system.

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The Psychological Consequences of Predictive Testing for Huntington’s Disease

Abstract: Predictive testing for Huntington's disease has potential benefits for the psychological health of persons who receive results that indicate either an increase or a decrease in the risk of inheriting the gene for the disease.

Cited by 422 publications

References 12 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

When access is an issue: exploring barriers to predictive testing for Huntington disease in British Columbia, Canada

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