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

Eur J Hum Genet. 2016 Oct;24(10):1396-402. doi: 10.1038/ejhg.2016.36. Epub 2016 May 11.


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.

Publication types

  • Evaluation Study

MeSH terms

  • Adult
  • Female
  • Genetic Testing / standards*
  • Genetic Testing / statistics & numerical data
  • Humans
  • Huntington Disease / diagnosis*
  • Huntington Disease / epidemiology
  • Huntington Disease / genetics
  • Male
  • Middle Aged
  • Mutation
  • Predictive Value of Tests
  • Prevalence
  • United Kingdom