Despite Recommendations, Genetic Testing Rare Among Those With Autism
It is widely recommended that individuals with autism receive a battery of genetic tests, but new research finds strikingly few people on the spectrum partaking.
Just 3 percent of those with autism have received both chromosomal microarray and fragile X testing, according to findings from a study published recently in the journal JAMA Psychiatry.
The American Academy of Pediatrics, the American College of Medical Genetics and the American Academy of Child and Adolescent Psychiatry all recommend both assessments in order to determine more precisely what might underlie an individual’s symptoms and point to treatment options, the researchers said.
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The study looked at medical records and self-reported information from 1,280 people with autism ranging in age from 1 to 68 between 2013 and 2019. More than 16 percent of the participants said they had received some variety of genetic testing, with 13 percent having undergone fragile X testing and 4.5 percent receiving chromosomal microarray testing. But, the researchers found that only a small number of people were taking both of the recommended tests.
“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,” said Daniel Moreno De Luca, an assistant professor of psychiatry and human behavior at Brown University who worked on the paper.
The study found that genetic testing is more common for those diagnosed in recent years. Among individuals diagnosed with autism between 2010 and 2014, nearly 10 percent said they had received chromosomal microarray testing, which is a more modern offering. But, adults with autism were unlikely to have had any genetic testing.
Researchers behind the study said their findings highlight a disconnect between research and professional recommendations and what’s happening in clinical practice.
“This paper is really about how you implement clinical genetic tests in the clinical diagnostic setting,” said Eric Morrow, an associate professor of biology at Brown and an author of the study. “There is rapid progress from research, and then there’s the doctor and health systems that need to translate that to clinical practice.”