Department of Medical Genetics, McGill University, Montreal, Quebec, Canada.
Dev Med Child Neurol. 2011 Nov;53(11):994-9. doi: 10.1111/j.1469-8749.2011.04080.x. Epub 2011 Aug 16.
Microarray technology has a significantly higher clinical yield than karyotyping in individuals with global developmental delay (GDD). Despite this, it has not yet been routinely implemented as a screening test owing to the perception that this approach is more expensive. We aimed to evaluate the effect that replacing karyotype with array-based comparative genomic hybridization (aCGH) would have on the total cost of the workup for GDD.
We evaluated the cost-effectiveness of aCGH compared with karyotyping by retrospectively analysing the cost of workup in a cohort of 114 children (69 males; 45 females) representing a consecutive series of children diagnosed with GDD.
The average increase in cost if aCGH had been performed instead of karyotyping as a first test was $442 per individual when performed by a private company (98% confidence interval $238-604). In contrast, $106 (98% confidence interval -$17 to $195) would have been saved if aCGH was performed locally in a laboratory already possessing the required technology. The incremental cost per additional diagnosis was estimated to be $12,874 if aCGH was performed in a private laboratory, but <$1379 if performed locally. (Costs reported in Canadian dollars, using 2010 prices.)
aCGH would be cost-effective as a first genetic test in the clinical evaluation of individuals with GDD.
微阵列技术在患有全面发育迟缓（GDD）的个体中比核型分析具有更高的临床收益。尽管如此，由于认为这种方法更昂贵，它尚未常规用作筛选测试。我们旨在评估用基于阵列的比较基因组杂交（aCGH）代替核型分析对 GDD 研究的总费用的影响。
我们通过回顾性分析一组 114 名儿童（69 名男性；45 名女性）的研究费用，评估了 aCGH 与核型分析的成本效益，这些儿童代表了一系列被诊断为 GDD 的连续儿童。
如果将 aCGH 作为首选测试而不是核型分析，则由私人公司进行时，每个个体的平均成本增加为 442 美元（98%置信区间为 238-604 美元）。相比之下，如果在已经拥有所需技术的实验室中在本地进行 aCGH，则可节省 106 美元（98%置信区间为 -17 至 195 美元）。如果在私人实验室中进行 aCGH，则每增加一个额外的诊断，成本估计为 12874 美元，但如果在本地进行，则成本<1379 美元。（以加拿大元报告，使用 2010 年价格。）
aCGH 作为 GDD 个体临床评估的首选基因测试具有成本效益。
