Child and Adolescent Psychiatrists' Perceptions of Utility and Self-rated Knowledge of Genetic Testing Predict Usage for Autism Spectrum Disorder

儿童和青少年精神科医生对基因检测实用性的认知和自我评估的知识水平可预测其在自闭症谱系障碍中的应用

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Abstract

Autism spectrum disorder (ASD) is associated with numerous genetic syndromes.(1) Practice guidelines from various medical specialty societies, such as American Academy of Child and Adolescent Psychiatry (AACAP), American College of Medical Genetics, American Neurological Association, and American Academy of Pediatrics, indicate that genetic testing should be part of the evaluation for ASD.(1-4) Studies have shown, however, that many patients do not receive indicated genetic testing; reported rates of testing vary widely, ranging from 1.5% to 60% of patients receiving genetic testing as part of the evaluation for ASD.(4-8) Child and adolescent psychiatrists practicing in the United States (approximately 8300)(9) far outnumber developmental behavioral pediatricians (approximately 900) and child neurologists (approximately 900), but in 1 study child and adolescent psychiatrists were the least likely to order genetic testing during the evaluation of patients with ASD diagnoses.(6) Thus, it is critical to understand attitudes of child and adolescent psychiatrists toward genetic testing and other barriers to genetic testing to optimize adherence to practice guidelines for appropriate genetic testing in people with ASD. A survey to capture the current practice, knowledge, and perceptions toward genetic testing was developed by content matter experts that included child and adolescent psychiatrists, psychologists, and genetic counselors as well as lawyers, anthropologists, and bioethicists with expertise in ethical, legal, and social implications of genetics.

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