Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns

Curtis R Coughlin,Tamim H Shaikh,Gunter H Scharer

doi:10.1186/gm381

Curtis R Coughlin, Tamim H Shaikh + Show 1 more

Open Access

https://doi.org/10.1186/gm381

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Journal: Genome medicine	Publication Date: Oct 1, 2012
Citations: 64	License type: cc-by

Affiliation: University of Colorado Denver

Abstract

Copy number variation (CNV) analysis has had a major impact on the field of medical genetics, providing a mechanism to identify disease-causing genomic alterations in an unprecedented number of diseases and phenotypes. CNV analysis is now routinely used in the clinical diagnostic laboratory, and has led to a significant increase in the detection of chromosomal abnormalities. These findings are used for prenatal decision making, clinical management and genetic counseling. Although a powerful tool to identify genomic alterations, CNV analysis may also result in the detection of genomic alterations that have unknown clinical significance or reveal unintended information. This highlights the importance of informed consent and genetic counseling for clinical CNV analysis. This review examines the advantages and limitations of CNV discovery in the clinical diagnostic laboratory, as well as the impact on the clinician and family.

Highlights

The adoption of copy number variation (CNV) analysis by the clinical diagnostic laboratory has had a major effect on the field of medical genetics
CNV analysis is a powerful tool for gene discovery, evaluating pathogenic effects of genomic alterations and establishing a diagnosis for patients with a number of phenotypes
The goal of clinical CNV analysis is designed to identify structural alterations that would establish a genetic diagnosis in an individual or family

Summary

Introduction

The adoption of copy number variation (CNV) analysis by the clinical diagnostic laboratory has had a major effect on the field of medical genetics. Keywords Comparative genomic hybridization, CGH, copy number variation, CNV, genetic counseling, microarray, single nucleotide polymorphism, SNP. Initial studies utilizing microarray-based analysis focused on phenotypically normal individuals and identified large CNVs that did not appear to be associated with a genetic disease [9,10].

Results

Conclusion