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

TY - JOUR

T1 - 22 Years of predictive testing for Huntington’s disease

T2 - the experience of the UK Huntington’s Prediction Consortium

AU - Baig, Sheharyar S

AU - Strong, Mark

AU - Rosser, Elisabeth

AU - Taverner, Nicola V

AU - Glew, Ruth

AU - Miedzybrodzka, Zofia Helena

AU - Clarke, Angus

AU - Craufurd, David

AU - UK Huntington’s Disease Prediction Consortium

AU - Quarrell, Oliver W

N1 - "22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium" European Journal of Human Genetics (2016) 24, 1515; doi:10.1038/ejhg.2016.81 Corrigendum: 15 September 2016 European Journal of Human Genetics (2016) 24, 1515 (2016) doi:10.1038/ejhg.2016.81 Corrigendum: 12 October 2017 European Journal of Human Genetics (2017) 25, 1290 (2017) doi:10.1038/ejhg.2017.139

PY - 2016/10

Y1 - 2016/10

N2 - 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.

AB - 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.

KW - Huntington’s disease

KW - predictive testing

KW - pre-symptomatic testing

KW - prevalence

U2 - 10.1038/ejhg.2016.36

DO - 10.1038/ejhg.2016.36

M3 - Article

VL - 24

SP - 1396

EP - 1402

JO - EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics.

JF - EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics.

SN - 1018-4813

IS - 10

ER -