Variability in Interpreting and Reporting Copy Number Changes Detected by Array-Based Technology in Clinical Laboratories
Product Description:
The use of microarrays for the assessment of copy number changes (CNCs) in individuals with constitutional disorders is becoming widespread in clinical cytogenetic laboratories. Although this technology has significantly increased the detection of chromosome imbalances that are known to be associated with abnormal phenotypes, the finding of CNCs in healthy individuals (also known as benign copy number variants or CNVs) has created new challenges for laboratorians and clinicians who must interpret the clinical significance of previously undescribed CNCs. The purpose of this study was to assess the variability in interpretation and reporting of copy number changes detected by array-based technology in the clinical laboratory. Thirteen copy number changes that were detected by array comparative genomic hybridization (six by BAC array and seven by oligonucleotide array) in one clinical laboratory were evaluated by directors from ten other clinical laboratories to determine how they would interpret and report the findings. The CNCs that were chosen for the study were not associated with an abnormal phenotype in the literature. The thirteen CNCs were chosen because they potentially posed an interpretive challenge in terms of their clinical significance. None of the thirteen copy number changes showed complete agreement amongst the eleven laboratories in the interpretation of the clinical significance of the change. For some cases, the interpretations ranged from normal to abnormal. Some laboratories appear to use a binary reporting system (normal vs. abnormal), whereas other laboratories utilize three or more categories for reporting. Some laboratories have absolute size cut-offs below which they do not report CNCs, whereas other laboratories will potentially report any size CNC depending on other variables. This study demonstrates the need for guidelines for interpreting and reporting copy number changes detected by array-based technology in order to clearly and more consistently communicate the clinical significance of these findings to ordering providers.
Product/Publication Type(s):
Peer-reviewed publications in scholarly journals Published/In Press
Target Audience:
Professionals, Students
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COVID-19 Related Data:
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