Are Many With Autism Missing Out on Key Gene Tests?

THURSDAY, May 28, 2020 (HealthDay News) — Very few people with autism receive two recommended genetic tests, a new study finds.

The American Academy of Pediatrics and other medical groups recommend offering chromosomal microarray testing and Fragile X testing to people with autism, to detect or rule out genetic abnormalities that could affect their diagnosis and care.

For the study, the researchers analyzed data gathered from 1,280 autism patients in Rhode Island between April 2013 and April 2019.

Only 16.5% said they’d received some genetic testing, with 13.2% receiving Fragile X testing, and 4.5% receiving chromosomal microarray testing. Only 3% received both recommended tests.

Older patients were less likely to have the tests. Patients diagnosed by subspecialist pediatricians were more likely to have the tests than those diagnosed by psychiatrists and psychologists.

“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% is actually lower than I thought it would be,” said study author Dr. Daniel Moreno De Luca, an assistant professor of psychiatry and human behavior at Brown University.

The study, published recently in the journal JAMA Psychiatry, reveals gaps between professional recommendations and clinical practice, according to the authors.

“A higher proportion has had either test individually, and the proportion of people with chromosomal microarray is higher in recent calendar years, which is a hopeful glimpse for people who are being diagnosed recently and who may be younger,” Moreno De Luca said in a university news release. “However, this underscores that there is still significant work to be done, especially for adults on the autism spectrum.”

“This paper is really about how you implement clinical genetic tests in the clinical diagnostic setting,” said co-author Dr. Eric Morrow, director of the Developmental Disorders Genetics Research Program at Brown’s Bradley Hospital in East Providence, R.I.

“There is rapid progress from research, and then there’s the doctor and health systems that need to translate that to clinical practice,” Morrow said. “The clinics need to set up more support to educate clinicians and families about genetics and autism. Generally, this is done by genetic counselors who may be rare in autism clinics.”

— Robert Preidt

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SOURCE: Brown University, news release, May 13, 2020

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