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Genetic Testing for Autism Is Rare, New Study Finds

Despite being recommended by experts, genetic testing for autism is relatively rare, according to a new study recently published in the journal JAMA Psychiatry.

According to a report this month by DisabilityScoop.com, the study focused on medical records and self-reported information from 1,280 people with autism between 1 and 68 years old being reported from the years 2013 to 2019.


While over 16 percent of the participants said they had received some form of genetic testing, the researchers found that only a small percentage received both chromosomal array and fragile X testing (about 3 percent), which are recommended by The American Academy of Pediatrics, the American College of Medical Genetics and the American Academy of Child and Adolescent Psychiatry. “I had the impression that the frequency of recommended genetic testing was not going to be very high based on the patients I encounter clinically, but 3 percent is actually lower than I thought it would be,” Daniel Moreno de Luca, an assistant professor of psychiatry at Brown University and an author of the paper, said. According to Disability Scoop, the researchers found that genetic testing for people diagnosed with autism has become more common in recent years, and that out of individuals diagnosed with autism between 2010 and 2014, 10% said they had received chromosomal microarray testing.


The general lack of testing has been due to conflicts in communication, according to associate professor Eric Marrow, who claims that, “There is rapid progress from research, and then there’s the doctor and health systems that need to translate that to clinical practice.” Source: https://www.disabilityscoop.com/2020/06/16/despite-recommendations-genetic-testing-rare-autism/28474/



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