Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom.

IF 3.5 Q1 EDUCATION & EDUCATIONAL RESEARCH Genomic medicine Pub Date : 2007-01-01 Epub Date: 2007-06-05 DOI:10.1007/s11568-007-9005-6
Sarah Wordsworth, James Buchanan, Regina Regan, Val Davison, Kim Smith, Sara Dyer, Carolyn Campbell, Edward Blair, Eddy Maher, Jenny Taylor, Samantha J L Knight
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引用次数: 37

Abstract

Array based comparative genomic hybridisation (aCGH) is a powerful technique for detecting clinically relevant genome imbalance and can offer 40 to > 1000 times the resolution of karyotyping. Indeed, idiopathic learning disability (ILD) studies suggest that a genome-wide aCGH approach makes 10-15% more diagnoses involving genome imbalance than karyotyping. Despite this, aCGH has yet to be implemented as a routine NHS service. One significant obstacle is the perception that the technology is prohibitively expensive for most standard NHS clinical cytogenetics laboratories. To address this, we investigated the cost-effectiveness of aCGH versus standard cytogenetic analysis for diagnosing idiopathic learning disability (ILD) in the NHS. Cost data from four participating genetics centres were collected and analysed. In a single test comparison, the average cost of aCGH was pound442 and the average cost of karyotyping was pound117 with array costs contributing most to the cost difference. This difference was not a key barrier when the context of follow up diagnostic tests was considered. Indeed, in a hypothetical cohort of 100 ILD children, aCGH was found to cost less per diagnosis ( pound3,118) than a karyotyping and multi-telomere FISH approach ( pound4,957). We conclude that testing for genomic imbalances in ILD using microarray technology is likely to be cost-effective because long-term savings can be made regardless of a positive (diagnosis) or negative result. Earlier diagnoses save costs of additional diagnostic tests. Negative results are cost-effective in minimising follow-up test choice. The use of aCGH in routine clinical practice warrants serious consideration by healthcare providers.

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诊断特发性学习障碍:微阵列技术在英国国家卫生服务的成本效益分析。
基于阵列的比较基因组杂交(aCGH)是一种检测临床相关基因组失衡的强大技术,可提供40至> 1000倍的核型分辨率。事实上,特发性学习障碍(ILD)研究表明,全基因组aCGH方法比核型诊断涉及基因组失衡的诊断多出10-15%。尽管如此,aCGH尚未作为一项常规NHS服务实施。一个重要的障碍是人们认为这项技术对大多数标准的NHS临床细胞遗传学实验室来说过于昂贵。为了解决这个问题,我们调查了aCGH与标准细胞遗传学分析在诊断特发性学习障碍(ILD)方面的成本效益。从四个参与的遗传学中心收集和分析了成本数据。在单次测试比较中,aCGH的平均成本为442英镑,核型分析的平均成本为117英镑,其中阵列成本是造成成本差异的主要原因。当考虑到后续诊断测试时,这种差异并不是一个关键障碍。事实上,在一个假设的100名ILD儿童队列中,发现aCGH的每次诊断费用(3118英镑)低于核型和多端粒FISH方法(4957英镑)。我们的结论是,使用微阵列技术检测ILD的基因组失衡可能具有成本效益,因为无论诊断结果是阳性还是阴性,都可以节省长期费用。早期诊断可以节省额外诊断测试的费用。阴性结果在减少后续检测选择方面具有成本效益。在常规临床实践中使用促生长激素值得医疗保健提供者认真考虑。
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