![]() Multiple possible reasons exist for this gap, including (1) participant preferences, although current evidence shows that most parents of people with ASD have favorable attitudes toward genetic testing 4, 5 and (2) insurance coverage constraints, 5 but this has changed after the appearance of medical professional recommendations. This study shows that only 3% of participants reported having undergone the recommended clinical genetic testing for ASD, highlighting a dissonance between professional recommendations and clinical practice. These results reflect changes in genetic testing practices however, a sustained overall low frequency of genetic testing in the group remains. Analysis by calendar year of ASD diagnosis indicated that CMA testing increased, and Fragile X and karyotype testing decreased in the last decade ( Figure, B). Analysis by age at enrollment indicated that younger participants were more likely to report having received CMA testing ( Figure, A). Patients diagnosed by subspecialist pediatricians were more likely to report genetic testing compared with those diagnosed by psychiatrists and psychologists. We examined factors associated specifically with CMA testing ( Table). We next examined factors associated with receiving genetic testing. ![]() Remarkably, only 3% of participants (n = 39) reported having received both recommended tests (Fragile X and CMA) 9.4% (n = 121) reported that they were unsure whether they had received any testing and 21.4% did not answer (n = 274). Of these 1280 participants with confirmed ASD diagnosis by ADOS-2, ages ranged from 1.75 years to 68.48 years, and 16.5% (n = 211) reported having received some genetic testing, as follows: Fragile X in 13.2% (n = 169), karyotype in 7.2% (n = 92), and CMA in 4.5% (n = 57). Shared Decision Making and Communication.Scientific Discovery and the Future of Medicine.Health Care Economics, Insurance, Payment.Clinical Implications of Basic Neuroscience.Challenges in Clinical Electrocardiography.
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