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

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

Baig SS¹, Strong M², Rosser E³, Taverner NV⁴, Glew R⁵, Miedzybrodzka Z⁶, Clarke A⁴, Craufurd D^7,⁸; UK Huntington’s Disease Prediction Consortium, Quarrell OW¹.

Author information

1: Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.
2: School of Health and Related Research, University of Sheffield, Sheffield, UK.
3: Great Ormond Street Hospital for Children, NE Thames Regional Genetics Service, London, UK.
4: Institute of Cancer and Genetics, University of Cardiff, Cardiff, UK.
5: MND Care Centre, Morriston Hospital, Swansea, UK.
6: School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, UK.
7: Faculty of Medical Sciences, Institute of Human Development, University of Manchester, Manchester, UK.
8: St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

Erratum in

22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium. [Eur J Hum Genet. 2017]
22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium. [Eur J Hum Genet. 2016]

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.