Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability

Am J Hum Genet. 2010 May 14;86(5):765-72. doi: 10.1016/j.ajhg.2010.03.009. Epub 2010 Apr 15.


Array genomic hybridization (AGH) provides a higher detection rate than does conventional cytogenetic testing when searching for chromosomal imbalance causing intellectual disability (ID). AGH is more costly than conventional cytogenetic testing, and it remains unclear whether AGH provides good value for money. Decision analytic modeling was used to evaluate the trade-off between costs, clinical effectiveness, and benefit of an AGH testing strategy compared to a conventional testing strategy. The trade-off between cost and effectiveness was expressed via the incremental cost-effectiveness ratio. Probabilistic sensitivity analysis was performed via Monte Carlo simulation. The baseline AGH testing strategy led to an average cost increase of $217 (95% CI $172-$261) per patient and an additional 8.2 diagnoses in every 100 tested (0.082; 95% CI 0.044-0.119). The mean incremental cost per additional diagnosis was $2646 (95% CI $1619-$5296). Probabilistic sensitivity analysis demonstrated that there was a 95% probability that AGH would be cost effective if decision makers were willing to pay $4550 for an additional diagnosis. Our model suggests that using AGH instead of conventional karyotyping for most ID patients provides good value for money. Deterministic sensitivity analysis found that employing AGH after first-line cytogenetic testing had proven uninformative did not provide good value for money when compared to using AGH as first-line testing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Cost-Benefit Analysis
  • Decision Support Techniques
  • Genome, Human*
  • Humans
  • Intellectual Disability / genetics*
  • Nucleic Acid Hybridization*
  • Resource Allocation / methods