Clinical Utility of Genome Sequencing in Autism: Case Examples

Clinical Utility of Genome Sequencing in Autism: Case Examples

This study examines the real-world clinical value of genome sequencing for individuals with autism, using illustrative examples drawn from a genomic research cohort. The findings highlight how whole-genome sequencing can identify genetic diagnoses—potentially including POGZ variants linked to White-Sutton syndrome—that inform patient care. The work underscores the growing role of comprehensive genomic testing in autism diagnosis and management.