A new study by IPRD scientist David H. Ledbetter, PhD, FACMG, in collaboration with Brenda Finucane MS, CGC, Daniel Moreno De Luca, M.D., MSc, and Scott M. Myers, M.D., highlights the importance of genetic testing in diagnosing Autism Spectrum Disorder (ASD).

Around 20% of ASD patients have identifiable genomic variants, emphasizing the need for testing. Exome/genome sequencing with copy number analysis is the recommended first-line test. Although genetic testing is widely available and covered by most insurers, its implementation in psychiatry lags behind other specialties. Child and adolescent psychiatrists should order diagnostic testing directly, rather than referring to genetics clinics.