ArticleEuropean journal of human genetics : EJHG2016
22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed.
- Psychological interventions for individuals affected by Huntington's disease: effects on depression, anxiety, and emotional well-being.Journal of community genetics · 2026Article
- Developing prognostic models that predict onset and progression rates in genetic neurodegenerative diseases: perspectives of healthcare professionals in genetic counselling.Orphanet journal of rare diseases · 2026Article
- Parkinson's through a cultural lens: Diversity in disease expression and care.Journal of Parkinson's disease · 2026Review
- Sex-related differences in Huntington's disease: a scoping review.Biology of sex differences · 2026Article
- Cascade counselling and testing. Recommendations of the European Society of Human Genetics.European journal of human genetics : EJHG · 2026Article
- Exploring mutation carriers' preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview study.Human genetics · 2025Article
- "It seems enormously valuable to me." Perspectives of Dutch (potential) carriers of genetic FTD on onset-predictive biomarker testing.Alzheimer's research & therapy · 2025Article
- Research Participant Interest in Learning Results of Biomarker Tests for Alzheimer Disease.JAMA network open · 2025Observational
- Predicting age of onset and progression of disease in late-onset genetic neurodegenerative diseases: An ethics review and research agenda.European journal of human genetics : EJHG · 2024Review
- Huntington Study Group's Neuropsychology Working Group: Implementing Non-Motor Diagnostic Criteria.Movement disorders clinical practice · 2023Review
- Readiness for Parkinson's disease genetic testing and counseling in patients and their relatives in urban settings in the Dominican Republic.NPJ Parkinson's disease · 2023Article
- Neurofilament light-associated connectivity in young-adult Huntington's disease is related to neuronal genes.Brain : a journal of neurology · 2022Article
- Rapid genome sequencing for pediatrics.Human mutation · 2022Review
- Advance Directive Documentation in a Huntington's Disease Clinic: A Retrospective Chart Review.Tremor and other hyperkinetic movements (New York, N.Y.) · 2022Article
- Fetal information as shared information: using NIPT to test for adult-onset conditions.Monash bioethics review · 2021Article
- Perceptions about Research Participation among Individuals at Risk and Individuals with Premanifest Huntington's Disease: A Survey Conducted by the European Huntington Association.Journal of personalized medicine · 2021Article
- Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain.Orphanet journal of rare diseases · 2021Article
- Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease.Neurology. Genetics · 2021Article
- Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol.Alzheimer's research & therapy · 2020Article
- Management of information within Portuguese families with Huntington disease: a transgenerational process for putting the puzzle together.European journal of human genetics : EJHG · 2020Article
Corrections and comments
- Erratum issued
- Erratum issued
Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Huntington's disease (HD) is a progressive neurodegenerative condition. At-risk individuals have accessed predictive testing via direct mutation testing since 1993. The UK Huntington's Prediction Consortium has collected anonymised data on UK predictive tests, annually, from 1993 to 2014: 9407 predictive tests were performed across 23 UK centres. Where gender was recorded, 4077 participants were male (44.3%) and 5122 were female (55.7%). The median age of participants was 37 years. The most common reason for predictive testing was to reduce uncertainty (70.5%). Of the 8441 predictive tests on individuals at 50% prior risk, 4629 (54.8%) were reported as mutation negative and 3790 (44.9%) were mutation positive, with 22 (0.3%) in the database being uninterpretable. Using a prevalence figure of 12.3 × 10(-5), the cumulative uptake of predictive testing in the 50% at-risk UK population from 1994 to 2014 was estimated at 17.4% (95% CI: 16.9-18.0%). We present the largest study conducted on predictive testing in HD. Our findings indicate that the vast majority of individuals at risk of HD (>80%) have not undergone predictive testing. Future therapies in HD will likely target presymptomatic individuals; therefore, identifying the at-risk population whose gene status is unknown is of significant public health value.
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