Genetic testing has value in establishing a biologically-based diagnosis. A CNV genotype may be associated with a variety of clinical features, including some that are not commonly evaluated in the psychiatric clinic. Therefore, genotype information has clear potential to influence clinical practice. The International Standard Cytogenomic Array (ISCA) consortium and American College of Medical Genetics has now established clinical guidelines for the use of chromosomal microarray analysis as a first tier diagnostic test for individuals with developmental disabilities or congenital anomalies (Miller et al., 2010). However, genetic testing has not yet been established as the nationwide standard of care for ASD, schizophrenia or bipolar disorder. Given the rapid pace of discovery in psychiatric genetics, it is likely that these new discoveries will have significant impact on clinical diagnosis and care in the coming decade.
