Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population Sample

Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population SampleAutism spectrum disorder (ASD) is among the most strongly genetic neuropsychiatric conditions, with an increased frequency of rare, deleterious copy number variants and single-nucleotide variants.Because of this, several medical professional societies have recommended offering chromosomal microarray (CMA) testing and Fragile X testing for people with ASD, 1 with growing support for exome sequencing as the first-tier genetic test. 2 To understand the implementation of genetic testing in a real-world population, we analyzed data from the Rhode Island Consortium for Autism Research and Treatment (RI-CART) study, a large, population-based study of people with ASD. 3 Methods | This study was approved by the institutional review board at Lifespan, and all participants provided written informed consent.We analyzed self-report data and medical records, when available, from 1280 participants in the RI-CART study, recruited between April 1, 2013, and April 30, 2019, with ASD diagnosis confirmed by assessment using the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2).3 Statistical analyses included Pearson correlations, χ 2 analyses, and analyses of variance.Statistical significance was set at a 2-sided P value less than .05.