Whether due to lack of insurance coverage, personal preference or other reasons, patients with autism spectrum disorder (ASD) are not getting recommended genetic testing. That is the conclusion of a new study published in Jama Psychology documenting a disturbing disconnect between professional recommendations and clinical practice. The Diagnostic Challenge ASD is among the most strongly genetic neuropsychiatric conditions, with an increased frequency of rare, deleterious copy number variants and single-nucleotide variants. Several medical professional societies recommend Chromosomal Microarray Analysis (CMA) and fragile X testing for people with ASD, and there is growing support for exome sequencing upfront. In addition, as noted in the autism section of the U.S Centers for disease Control’s (CDC) website, clinical practice recommendations from the Academy of Neurology and the Child Neurology Society call for genetic testing in children with autism. The Study The study, which was approved by the institutional review board at Lifespan and conducted by Dr. Eric Morrow, PhD, head of the Developmental Disorders Genetics Research Program at Brown University and colleagues, evaluated self-reported data on testing in 1,280 people with ASD. Diagnosis of ASD had been confirmed, based on assessment with the Autism Diagnostic Observation Schedule. Participants were between the ages of 1.75 and […]