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Dates: 2005-2007
Funding: Department of Health
Collaborators: Wellcome Trust Centre for Human Genetics, University of Oxford;
West Midlands Regional Genetics Laboratory; Oxford Regional Cytogenetics Laboratory
Information: Sarah Wordsworth and James Buchanan

Genome-wide aCGH (microarrays) has the potential to make 10-15% more diagnoses involving genome imbalance than cytogenetic techniques (karyotyping), but is yet to be implemented as a routine NHS service, partly due to the view that the technology is prohibitively expensive.

This research examined the costs and effects of using array based comparative genomic hypbridisation (aCGH) compared to karyotyping for diagnosing cases of idiopathic learning disability (ILD – cases with no known cause).

Cost data on aCGH and karyotyping were collected from several UK genetics centres, and our main outcome measure was number of diagnoses detected, creating in a cost per diagnosis. In a single test comparison, the average cost of aCGH was £442 and the average cost of karyotyping was £117. 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 (£3,118) than a karyotyping and multi-telomere FISH approach (£4,957). We concluded 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.

Publications

Wordsworth, S, Buchanan, J, Regan, R, Davison, V, Smith, K, Dyer, S, Campbell, C, Blair, E, Maher, E, Taylor, J, and Knight, SJ (2007). Diagnosing ideopathic learning disability: A cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom. Genomic Medicine, 1:35-45.