Recommendations for the predictive genetic test in Huntington's disease

MacLeod, Rhona; Tibben, Aad; Frontali, Marina; Evers‐Kiebooms, Gerry; Jones, Alison L; Martinez-Descales, A; Roos, R.A.C.

doi:10.1111/j.1399-0004.2012.01900.x

Cited by 189 publications

(198 citation statements)

References 59 publications

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“…Along these years, the empirical experience together with the revisions of international guidelines (Sequeiros et al 2010a;Sequeiros et al 2010b;HDSA 2012;Rodrigues et al 2012;Skirton et al 2013;Macleod et al 2013) led us to make some changes to the program which are under the scope of the present paper.…”

Section: Methodsmentioning

confidence: 99%

“…Current recommendations for predictive testing in HD do not consider the neurological exam as a requirement for participation, but rather as an important baseline evaluation of each person (MacLeod et al 2013). …”

Section: Redesigning the Presymptomatic Testing Protocolmentioning

confidence: 99%

“…SCA2 predictive testing in minors has no advantages and should not be undertaken (Sequeiros et al 2010b). Similarly, in HD, the age of majority is recommended as the minimum age for testing (MacLeod et al 2013). A very different scenario accounts for those children at risk for FAP who need regular surveillance when carrying the mutated gene.…”

Section: The Dilemma Of Predictive Testing In Minorsmentioning

confidence: 99%

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SCA2 predictive testing in Cuba: challenging concepts and protocol evolution

Mariño¹,

Vázquez‐Mojena

Velázquez‐Pérez

et al. 2015

J Community Genet

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Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease caused by a CAG repeat expansion in the ATXN2 gene. Cuba has the highest prevalence (6.57 cases/10 5 inhabitants) of SCA2 in the world. The existence of 753 affected individuals and 7173 relatives at risk prompted the development in 2001 of the first predictive testing program in the country. The medical records of over 1193 individuals, who requested the test within a 13-year period, were analyzed retrospectively. The presymptomatic and the prenatal tests had uptake rates of 43.4 and 23.9 %, respectively. Several ethical challenges resulted from this program. These include the following: (1) withdrawal due to the initial protocol's length; (2) the request to participate by 16 at-risk adolescents; (3) the decision made by ten out of 33 couples with a test-positive fetus to carry the pregnancy to term, leading to de facto predictive testing of minors; (4) the elevated frequency of the ATXN2 gene large normal alleles (≥23 to 31 repeats) in the reference population. These issues have led to major changes in the guidelines of the predictive testing protocol: (1) the protocol length was shortened; (2) the inclusion criteria were expanded to reach at-risk adolescents with an interest in prenatal diagnosis; (3) interdisciplinary follow-up was offered to families in which test-positive fetuses were not aborted; (4) prenatal testing was made available to carriers of large normal alleles with ≥27 CAG repeats. The profiles of the participants were similar to those reported for other predictive testing programs for conditions like Huntington disease and familial adenomatous polyposis. The genetic counseling practices at the community level, the ample health education provided to the at-risk population, together with multidisciplinary and specialized attention to the affected families, are lessons from the Cuban experience that can be relevant for other international teams conducting predictive testing for other late-onset neurodegenerative disorders.

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Section: Methodsmentioning

confidence: 99%

Section: Redesigning the Presymptomatic Testing Protocolmentioning

confidence: 99%

Section: The Dilemma Of Predictive Testing In Minorsmentioning

confidence: 99%

See 1 more Smart Citation

SCA2 predictive testing in Cuba: challenging concepts and protocol evolution

Mariño¹,

Vázquez‐Mojena

Velázquez‐Pérez

et al. 2015

J Community Genet

View full text Add to dashboard Cite

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“…[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.…”

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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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“…[7][8][9] As such, the international guidelines for HD PT recommend that individuals considering testing undergo in-depth genetic counseling, psychosocial evaluation, and assessment to ensure they have adequate support and are prepared for receiving this news. 10 Despite considerable concern about possible adverse events following predictive test results, these fears do not appear to have been realized. Instead, the majority of studies suggest that people are satisfied with their decision to be tested and cope well when adequately prepared to receive an HD test result.…”

Section: Introductionmentioning

confidence: 99%

Developing a comprehensive, effective patient-friendly website to enhance decision making in predictive testing for Huntington disease

Virani

Creighton

Hayden

2013

Genetics in Medicine

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Purpose: Predictive testing for Huntington disease is a complex decision, requiring in-depth counseling, education, and evaluation. Despite the growth in Web-based decision aids and educational resources, such tools for those considering Huntington disease testing are not available. The main objective of this project was to develop a patient-friendly, comprehensive, accessible Web-based tool to provide accurate information about testing for Huntington disease.Methods: A semistructured interview study was conducted to determine the informational, educational, and support needs of those considering Huntington disease testing. A dedicated predictive testing website was subsequently developed and pilot tested. results:The interview study revealed that an effective website should include interactive diagrams, video documentaries, and personal stories of others who had considered testing. The pilot test revealed that the multidimensional site was easy to navigate and understand and provided an accurate, unbiased overview of the important factors to be considered before undergoing predictive testing.conclusion: This project demonstrates the use of a mixed-method approach to develop the first tailored website dedicated to predictive testing for Huntington disease. Such an approach enabled the development of a comprehensive, accurate, and effective educational tool that supports informed decision making for people considering predictive testing for Huntington disease in an accessible, nonthreatening manner. 2013:15(6):466-472 Genet Med

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Recommendations for the predictive genetic test in Huntington's disease

Cited by 189 publications

References 59 publications

SCA2 predictive testing in Cuba: challenging concepts and protocol evolution

SCA2 predictive testing in Cuba: challenging concepts and protocol evolution

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

Developing a comprehensive, effective patient-friendly website to enhance decision making in predictive testing for Huntington disease

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