Predictive gene testing for <scp>H</scp>untington disease and other neurodegenerative disorders

Wedderburn, Sarah; Panegyres, Peter K.; Andrew, Susan E.; Goldblatt, Jack; Liebeck, Toni; McGrath, Frank P.; Wiltshire, M.; Pestell, Carmela; Lee, J.; Beilby, John

doi:10.1111/imj.12176

Cited by 14 publications

(28 citation statements)

References 22 publications

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“…3 This was also found by Wedderburn et al, 1 who found no recorded evidence of major psychological reactions or suicides in their 740 at-risk patients. They also detailed why patients withdrew from the counselling process at various stages.…”

supporting

confidence: 52%

“…All too often, it represents the final stage of a 30-year journey manifest through decreasing bone strength and increasing falls risk. 1 As 450 million baby boomers enter retirement, 2 healthcare systems across the world must prepare to develop systematic approaches to hip fracture care and prevention.…”

Section: Hip Fracture In Australia: Missed Opportunities and A Chancementioning

confidence: 99%

“…1 Following international guidelines, 2 they describe their experience in a multidisciplinary clinic offering predictive testing for neurodegenerative disorders, such as Huntington disease. These disorders develop in adulthood and are mostly incurable.…”

mentioning

confidence: 99%

“…Wedderburn et al describe how in their experience, people most often chose to withdraw from the predictive testing process during this pretest counselling. 1 Presumably, this is because the pretest counselling helps to illustrate the depth and significance the information provided and helped the patient to further reflect upon the impact this information might have on their lives.…”

mentioning

confidence: 99%

“…Wedderburn et al's article on predictive gene testing for Huntington disease provides such evidence of current practice in a multidisciplinary setting. 1 …”

mentioning

confidence: 99%

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Predictive testing: more than just another test

Sheffield¹,

Ayres

2013

Internal Medicine Journal

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supporting

confidence: 52%

Section: Hip Fracture In Australia: Missed Opportunities and A Chancementioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

“…Wedderburn et al's article on predictive gene testing for Huntington disease provides such evidence of current practice in a multidisciplinary setting. 1 …”

mentioning

confidence: 99%

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Predictive testing: more than just another test

Sheffield¹,

Ayres

2013

Internal Medicine Journal

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1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa

Mandich

Lamp

Gotta

et al. 2017

Mol Genet Genomic Med

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BackgroundPredictive testing for Huntington's disease has been available at the Medical Genetics Unit of the University of Genoa from 1987. In 1989, an integrated counseling protocol (geneticist, psychologist, and neurologist) was developed following International Guidelines.MethodsThis is a retrospective analysis of the clinical charts and motivation questionnaires of persons seeking predictive testing through direct DNA analysis from 1993 until 2014, with the aim to evaluate their individual characteristics, motivations, and the outcomes of the counseling protocol.ResultsA total of 299 persons (164 women, 135 men) applied for predictive testing. Most applicants’ features and motivations were similar to those previously described, but surprisingly the percentage of completed protocols was higher among men, 68.5% versus 53.5% (P = 0.011). Likewise, persons over 25 years of age were more likely to take the test than younger applicants (18–25 years): 63.4% versus 48.1% (P = 0.043). In addition, relationship status, having children, and the gender of the affected parent showed different effects on the decision about testing in males and females. No catastrophic reactions were reported during the study period.ConclusionsWe observed that factors influencing the decision‐making process might differ between males and females, and that predictive testing appears a safe procedure if framed within an integrated counseling protocol.

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Initial psychometric analysis of novel instruments to assess decisional distress and decisional uncertainty in women who have considered using preimplantation genetic testing

Pastore

Rubin

Nicoloro-SantaBarbara

et al. 2020

Prenatal Diagnosis

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Objective To analyze psychometric properties of two novel instruments assessing decisional distress and uncertainty experienced by individuals considering preimplantation genetic testing (PGT). Methods The new PGT Decisional Distress instrument (22 items) assesses negative/positive emotions. The new PGT Decisional Uncertainty instrument assesses Clarity about test benefits/disadvantages (5 items) and Certainty of having adequate information/support to make a good decision (7 items). Scales ranged from 0 to 4. Psychometrics (central tendencies, internal consistency reliability, and discriminant validity) were evaluated. Stratified analysis by decision stage was conducted. All participants had considered or used PGT in the previous 6 months. Results N = 106 females (mean age 36.5 ± 4.8 years; 16% non‐Caucasian; 9% Hispanic) across 16 US states completed an online anonymous questionnaire. On average, respondents reported minimal distress (mean 0.96), high clarity (mean 3.26), and high certainty (mean 3.06), particularly those who had already decided compared to undecided women (P ≤ .02). Instruments had excellent internal consistency (Cronbach's α's 0.92‐0.94) and displayed sufficient inter‐individual variability (SD's 0.75‐0.89). Correlations confirmed expected patterns of association between instruments (P's < .01), indicating discriminant validity. Conclusion We document initial reliability and validity of new instruments to measure emotional distress and uncertainty in female patients who have recently considered PGT for single‐gene or chromosomal disorders.

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Predictive gene testing for Huntington disease and other neurodegenerative disorders

Abstract: People withdrew from PT in relation to life stages and reasons that are unknown. Our findings emphasise the importance of: (i) adherence to internationally recommended guidelines for PT; (ii) the role of the multidisciplinary team in risk minimisation; and (iii) patient selection.

Cited by 14 publications

References 22 publications

Predictive testing: more than just another test

Predictive testing: more than just another test

1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa

Initial psychometric analysis of novel instruments to assess decisional distress and decisional uncertainty in women who have considered using preimplantation genetic testing

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