22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium
22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium
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DOI：
10.1038/ejhg.2016.36
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发表时间：
2016-10-01
影响因子：
5.2
通讯作者：
Quarrell, Oliver W.
中科院分区：
文献类型：
--
作者：
Baig, Sheharyar S.;Strong, Mark;Quarrell, Oliver W.
亨廷顿氏病（HD）是一种进行性神经退行性疾病。自1993年以来，高危人群通过直接突变检测获得了预测性检测。从1993年到2014年，英国亨廷顿舞蹈症预测协会每年收集英国预测测试的匿名数据：在英国23个中心进行了9407次预测测试。在性别记录中，4077名参与者为男性（44.3%），5122名参与者为女性（55.7%）。参与者的中位年龄为37岁。预测测试最常见的原因是减少不确定性（70.5%）。在对具有50%先前风险的个体进行的8441项预测测试中，4629项（54.8%）报告为突变阴性，3790项（44.9%）报告为突变阳性，数据库中有22项（0.3%）无法解释。采用12.3 × 10（-5）的流行率，1994年至2014年英国50%高危人群中预测检测的累计接受率估计为17.4% （95% CI: 16.9-18.0%）。我们提出了对HD进行预测测试的最大研究。我们的研究结果表明，绝大多数有HD风险的个体（480%）没有接受预测性检测。HD的未来治疗可能针对症状前个体；因此，识别基因状态未知的高危人群具有重要的公共卫生价值。
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 x 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 (480%) 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.