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Array comparative genomic hybridization for diagnosis of developmental delay - an exploratory cost-consequences analysis
Newman WG, Hamilton S, Ayres J, Sanghera N, Smith A, Gaunt L, Davies LM, Clayton-Smith J
Clinical Genetics. 2007;.
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Abstract
A major application of array comparative genomic hybridization(aCGH) is to define a specific cause in children with undiagnosedlearning and developmental disability (LDD). Medical notes for46 consecutive patients selected for aCGH analysis by clinicaldysmorphologists were abstracted for clinical investigations related toLDD and a cost-consequences analysis was performed. aCGH analysiswas completed in 36 cases and five diagnostic chromosomal anomalieswere identified (13.8%). The number of investigations undertaken oneach child varied. With aCGH estimated to cost £590 per case, if aCGHhad been undertaken after negative standard initial tests for LDDinvestigation, the additional cost would be £2399 per positive case. If thecost of aCGH was reduced to £256 per case (e350), aCGH becomescost neutral. All chromosomal anomalies detected by aCGH had a deVries score of 5. If aCGH had only been used for individuals witha score of 5, the sensitivity increased to 21.7% yielding a cost of £1087per positive case identified. Pre-selection of cases for aCGH based on deVries criteria has a major economic impact on introducing aCGH intoclinical practice. Prospective studies are required to explore the long-term costs and consequences of aCGH and identify when aCGH may providethe most benefit at least cost