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Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study
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Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study
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Journal Article
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study
2025
Overview
BackgroundGenetics is an important contributor to autism spectrum disorder (ASD). Clinical guidelines endorse genetic testing in the medical workup of ASD, particularly tests that use whole genome sequencing (WGS) technology. While the clinical utility of genetic testing in ASD is demonstrated, the breadth of impact of results can depend on the variant and/or gene being reported.MethodsWe reviewed research results returned to families enrolled in our ASD WGS study between 2012 and 2023. For significant results, we grouped the outcome of each genetic finding into three outcome categories: (1) genetic diagnosis, (2) counselling benefits and (3) support to family.ResultsOut of 202 families who received genome sequencing results, 100 had at least one clinically relevant finding related to ASD. With detailed examples, we show that all significant results led to a genetic diagnosis and counselling benefits.ConclusionOur findings show the relevance of genome sequencing in ASD and provide illustrative examples of how the information can be used.
Publisher
BMJ Publishing Group Ltd,BMJ Publishing Group LTD
Subject
/ Autism Spectrum Disorder - diagnosis
/ Autism Spectrum Disorder - genetics
/ Autistic Disorder - diagnosis
/ Autistic Disorder - genetics
/ Child
/ Child & adolescent psychiatry
/ Cognitive and behavioural genetics
/ Etiology
/ Female
/ Genes
/ Genetic Predisposition to Disease
/ Genomes
/ Genomics
/ Humans
/ Male
