Clinical evaluation of patients with a neuropsychiatric risk copy number variant

Curr Opin Genet Dev. 2021 Jun;68:26-34. doi: 10.1016/j.gde.2020.12.012. Epub 2021 Jan 15.


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.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't