A quarterly publication of the Autism Research Institute

The Autism Research Review International is quarterly publication of the Autism Research Institute

Fall, 2020 | Number 4, Volume 34

Few individuals with ASD get full genetic testing

Only about 3% of individuals with autism spectrum disorders (ASD) receive a full genetic screening, according to a new study. 

Daniel Moreno-De-Luca and colleagues analyzed medical records and personal reports for 1,280 individuals with ASD, focusing on the time period of April 2013 to April 2019. Participants were enrolled in a study by the Rhode Island Consortium for Autism Research and Treatment. 

Moreno-De-Luca and colleagues note that medical associations including the American Academy of Pediatrics, the American College of Medical Genetics, and the American Academy of Child and Adolescent Psychiatry recommend providing both chromosomal microarray testing and Fragile X testing for patients diagnosed with ASD. The researchers found that 16.5% of the participants had received some testing, with 13.2% being tested for Fragile X and 4.5% getting chromosomal testing. However, only 3% of the individuals were reported to have received both tests. 

While the researchers note that young people with ASD were more likely to be fully tested than older individuals, Moreno-DeLuca says their study “underscores that there is still significant work to be done, especially for adults on the autism spectrum.”


“Clinical genetic testing in autism spectrum disorder in a large community-based population sample,” Daniel Moreno-De-Luca, Brian C. Kavanaugh, Carrie R. Best, Stephen J. Sheinkopf, Chanika Phornphutkul, and Eric M. Morrow, JAMA Psychiatry, Vol. 77, No. 9, September 2020 (free online). Address: Eric Morrow, Laboratories for Molecular Medicine, Brown University, 70 Ship St. Box G-E4, Providence, RI 02903, [email protected]


“Study finds only 3% of individuals with autism receive recommended genetic tests,” news release, Brown University, May 13, 2020.