22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium

UK Huntington’s Disease Prediction Consortium, Oliver W Quarrell* (Corresponding Author)

*Corresponding author for this work

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48 Citations (Scopus)
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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.
Original languageEnglish
Pages (from-to)1396-1402
Number of pages7
JournalEJHG : European journal of human genetics : the official journal of the European Society of Human Genetics.
Issue number10
Early online date11 May 2016
Publication statusPublished - Oct 2016


  • Huntington’s disease
  • predictive testing
  • pre-symptomatic testing
  • prevalence


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