title: 22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.
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.
authors.affiliation: Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.
authors.forename: Sheharyar S
authors.initials: SS
authors.lastname: Baig
authors.affiliation: School of Health and Related Research, University of Sheffield, Sheffield, UK.
authors.forename: Mark
authors.initials: M
authors.lastname: Strong
authors.affiliation: Great Ormond Street Hospital for Children, NE Thames Regional Genetics Service, London, UK.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Rosser
authors.affiliation: Institute of Cancer and Genetics, University of Cardiff, Cardiff, UK.
authors.forename: Nicola V
authors.initials: NV
authors.lastname: Taverner
authors.affiliation: MND Care Centre, Morriston Hospital, Swansea, UK.
authors.forename: Ruth
authors.initials: R
authors.lastname: Glew
authors.affiliation: School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, UK.
authors.forename: Zosia
authors.initials: Z
authors.lastname: Miedzybrodzka
authors.affiliation: Institute of Cancer and Genetics, University of Cardiff, Cardiff, UK.
authors.forename: Angus
authors.initials: A
authors.lastname: Clarke
authors.affiliation: Faculty of Medical Sciences, Institute of Human Development, University of Manchester, Manchester, UK.|St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
authors.forename: David
authors.initials: D
authors.lastname: Craufurd
authors.affiliation: Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.
authors.forename: Oliver W
authors.identifier: 0000-0002-3818-9051
authors.initials: OW
authors.lastname: Quarrell
mesh_terms: D000328:Adult; D005260:Female; D005820:Genetic Testing / Q000592:standards* / Q000706:statistics & numerical data; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011237:Predictive Value of Tests; D015995:Prevalence; D006113:United Kingdom