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

Baig, Sheharyar S., Strong, Mark, Rosser, Elisabeth, Taverner, Nicola, Glew, Ruth, Miedzybrodzka, Zosia, Clarke, Angus John, Craufurd, David, UK Huntington’s Disease Prediction Consortium, and Quarrell, Oliver W. 2016. 22 years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium. European Journal of Human Genetics 24 , pp. 1396-1402. 10.1038/ejhg.2016.36

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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.

Item Type:	Article
Date Type:	Published Online
Status:	Published
Schools:	Medicine
Publisher:	Nature Publishing Group
ISSN:	1018-4813
Date of First Compliant Deposit:	12 February 2018
Date of Acceptance:	29 March 2016
Last Modified:	13 Feb 2018 16:42
URI:	http://orca.cf.ac.uk/id/eprint/96070

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