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Missing Pieces


Study finds low proportion of individuals with autism receive recommended genetic tests.

A study analyzing data from the Rhode Island Consortium for Autism Research and Treatment (RI-CART) found that a low proportion of people diagnosed with autism spectrum disorder reported having undergone clinical genetic tests recommended by medical professional societies.

The results bring to light a dissonance between professional recommendations and clinical practice, the researchers behind the study say.

Autism spectrum disorder is one of the most strongly genetic neuropsychiatric conditions. Medical professional societies—such as the American Academy of Pediatrics, the American College of Medical Genetics, and the American Academy of Child and Adolescent Psychiatry—recommend offering clinical genetic testing, including chromosomal microarray testing and Fragile X testing, for patients diagnosed with autism. The tests can identify or rule out genetic abnormalities that could have implications in a patient’s diagnosis and clinical care.

The study, published in JAMA Psychiatry on May 13, analyzed 1,280 participants with ASD based on medical records and self-reported data from the time period of April 2013 to April 2019. The participants are enrolled with RI-CART, a public-private-academic collaborative focused on advancing research and building community among individuals with autism spectrum disorder in Rhode Island and their families. The study’s goal was to determine the current state of clinical genetic testing for autism in this cohort, say authors Daniel Moreno De Luca F’18, MD, MSc, and Eric Morrow, MD, PhD.

Of the 1,280 participants, 16.5 percent reported having received some genetic testing, with 13.2 percent stating they received Fragile X testing, and 4.5 percent reporting that they received chromosomal microarray testing. However, only 3 percent of participants reported having received both 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,” says Moreno De Luca, an assistant professor of psychiatry and human behavior and a psychiatrist at Bradley Hospital. “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. However, this underscores that there is still significant work to be done, especially for adults on the autism spectrum.”

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