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Updated: Nov 21, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Clinical evaluation of patients with a neuropsychiatric risk copy number variant
Samuel Jra Chawner1, Cameron J Watson2, Michael J Owen3
1MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, UK; Cardiff University Centre for Human Developmental Science, School of Psychology, Cardiff, UK.
Abstract:
Several copy number variants (CNVs) have been identified to confer high risk for a range of neuropsychiatric conditions. Because of advances in genetic testing within clinical settings, patients are increasingly receiving diagnoses of copy number variant genomic disorders. However, clinical guidelines surrounding assessment and management are limited. This review synthesises recent research and makes preliminary recommendations regarding the clinical evaluation of patients with neuropsychiatric risk CNVs. We recommend multi-system assessment beyond the initial referral reason, recognition of the potential need for co-ordinated multidisciplinary care, and that interventions take account of relevant multimorbidity. The frequently complex needs of patients with CNVs across the life-course pose challenges for many health care systems and may be best provided for by the establishment of specialist clinics.
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