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 ORCID: https://orcid.org/0000-0002-1200-9286, 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:	23 Nov 2024 03:45
URI:	https://orca.cardiff.ac.uk/id/eprint/96070

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