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Clinical genetic testing in autism spectrum disorder in a large community-based population sample

JAMA Sep 05, 2020

Moreno-De-Luca D, Kavanaugh BC, Best CR, et al. - Using data from the Rhode Island Consortium for Autism Research and Treatment (RI-CART) study, a large, population-based study of people with autism spectrum disorder (ASD), researchers evaluated the implementation of genetic testing in a real-world population, as several medical societies are increasingly recommending testing in light of a higher frequency of rare, deleterious copy number variants and single-nucleotide variants being seen relative to ASD. Available self-reported data and medical records of 1,280 participants (ages from 1.75 years to 68.48 years) with an ASD diagnosis from the RI-CART study were analyzed. Among participants, only 3% reported having undergone the recommended clinical genetic testing for ASD, showing a disconnect between recommendations by professional and what happens in clinical practice. This gap may be due to participant preferences and insurance coverage constraints, though participants with and without private insurance did not differ in terms of CMA testing. Participants with public insurance, however, showed strong increase in testing. Other reasons may include limited clinician knowledge and comfort with genetic testing, modifications in genetic testing practices over time, and a reduction in the likelihood of adults with ASD being offered testing. Based on findings, they emphasize focusing on the barriers to testing to increase genetic testing in clinical practice so that every patient with ASD receives optimal care.

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