Mainstreaming Diagnostic Genetic Testing and Precision Medicine for Autism Spectrum Disorder : The Role of Child and Adolescent Psychiatrists - 08/05/25

Doi : 10.1016/j.psc.2025.01.010

David H. Ledbetter, PhD ^a,^⁎ , Brenda Finucane, MS, CGC ^b, Daniel Moreno-De-Luca, MD, MS ^c,^d,^e,^f,^g, Scott M. Myers, MD ^b
^a Department of Clinical Sciences, Institute for Pediatric Rare Diseases, Florida State University, 1115 West Call Street, Tallahassee, FL 32306, USA
^b Department of Developmental Medicine, Geisinger College of Health Sciences, 120 Hamm Drive, Lewisburg, PA 17837, USA
^c Division of Child and Adolescent Psychiatry, Department of Psychiatry, Faculty of Medicine and Dentistry
^d Women and Children’s Health Research Institute
^e Neuroscience and Mental Health Institute
^f Precision Medicine in Autism (PRISMA) Group
^g University of Alberta, Alberta Health Services, CASA Mental Health, 11361 87 Avenue, Suite 5-020K, Edmonton, AB T6G 2E1, Canada

^∗Corresponding author.

Résumé

Autism Spectrum Disorder (ASD) is a neurodevelopmental psychiatric condition that shares significant clinical and genetic overlap with intellectualdisability (ID) and other neurodevelopmental disorders. Genetic testingin ASD lags far behind that for ID, even though Professional Societiesrecommend genetic testing for all ASD individuals and insurance reimbursement is relatively good. The core competencies for child and adolescent psychiatrists include determining the etiology and diagnosisfor all childhood psychopathology, including ID and ASD. Child psychiatrists should recommend and order genetic testing by exomeor genome sequencing on all children with ASD.

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Keywords : Autism spectrum disorder, Neurodevelopmental disorders, Diagnostic genetic testing, Etiologic diagnosis

Plan

Key points

Introduction

Clinical diagnosis of autism spectrum disorder and other neurodevelopmental disorders

Genetic etiologies of autism spectrum disorder and other neurodevelopmental disorders

Common Genomic variation in Autism Spectrum Disorder and Other Neurodevelopmental Psychiatric Conditions: Significant Research Progress, but no Clinical Applications so far

Rare Genomic Variants as Primary Cause of Autism Spectrum Disorder can be Identified in ∼20% of Cases by Clinically Available Diagnostic Genetic Testing

Rare Pathogenic Variants in Hundreds of Genes can Cause Autism Spectrum Disorder and/or Intellectual Disability

Importance of Copy Number Variation in the Etiology of Neurodevelopmental and Psychiatric Disorders

Common Genomic Variants Influence the Clinical Expression of Rare Variants by Creating a Resilient or Susceptible Genetic Background

Clinical and personal utility of genetic diagnosis

Clinical Scenario

Role of child and adolescent psychiatrists in the evaluation and diagnosis of autism spectrum disorder and intellectual disability, including etiologic diagnosis

Which Diagnostic Genetic Testing Should be Recommended? Genetic Testing Technology is Evolving More Rapidly than Professional Clinical Practice Guidelines

Mainstreaming Genetic Testing in Psychiatry

Simplified and Concise Informed Consent for Genetic Testing

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Vol 48 - N° 2

P. 343-360 - juin 2025 Retour au numéro

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Mainstreaming Diagnostic Genetic Testing and Precision Medicine for Autism Spectrum Disorder : The Role of Child and Adolescent Psychiatrists - 08/05/25

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