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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Array comparative genomic hybridization for diagnosis of developmental delay: an exploratory cost-consequences
W G Newman1, S Hamilton, J Ayres
1Academic Unit of Medical Genetics and Regional Genetics Service and Nowgen, the North West Genetics Knowledge Park, University of Manchester, St Mary's Hospital, Central Manchester University Hospitals NHS Trust, Manchester, UK.
Clinical Genetics
|February 21, 2007
Summary
Array comparative genomic hybridization (aCGH) can diagnose genetic causes of learning and developmental disability (LDD). Pre-selecting patients using de Vries criteria significantly improves diagnostic yield and cost-effectiveness.
Area of Science:
- Genetics
- Medical Diagnostics
- Bioinformatics
Background:
- Array comparative genomic hybridization (aCGH) is a key tool for diagnosing undiagnosed learning and developmental disability (LDD) in children.
- Clinical dysmorphologists select patients for aCGH based on specific criteria.
- Understanding the cost-effectiveness of aCGH is crucial for its integration into clinical practice.
Purpose of the Study:
- To evaluate the diagnostic yield and cost-consequences of implementing aCGH in children with LDD.
- To determine the impact of pre-selection criteria on the efficiency of aCGH.
- To assess the economic viability of aCGH in routine clinical settings.
Main Methods:
- Medical notes of 46 children undergoing aCGH for LDD were analyzed.
- A cost-consequences analysis was performed comparing different implementation strategies.
- Patient selection was evaluated based on de Vries scores.
Main Results:
- aCGH identified chromosomal anomalies in 13.8% of cases (5 out of 36 analyzed).
- Implementing aCGH after initial negative tests incurred an additional cost of 2399 British Pound per positive case.
- Using aCGH for cases with a de Vries score >=5 increased sensitivity to 21.7% and reduced cost per positive case to 1087 British Pound.
Conclusions:
- Pre-selection of patients using de Vries criteria significantly enhances the economic impact and diagnostic utility of aCGH.
- Reducing aCGH costs to approximately 256 British Pound per case could make it cost-neutral.
- Further prospective studies are needed to fully understand the long-term benefits and optimal implementation of aCGH for LDD diagnosis.
