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Genetic Testing History in Adults With Autism Spectrum Disorder.

Susanna B Mierau1,2,3, Robyn P Thom1,2, Caitlin T Ravichandran1,2,4

  • 1Massachusetts General Hospital Lurie Center for Autism, 1 Maguire Rd, Lexington, MA, 02421, USA.

Journal of Autism and Developmental Disorders
|March 5, 2026
PubMed
Summary
This summary is machine-generated.

Genetic testing for autism spectrum disorder (ASD) is underused in adults. Only 41% received recommended genetic testing, with a 28% diagnostic yield, indicating a need for improved screening in ASD specialty clinics.

Keywords:
AdultsAutism spectrum disorderGene variantsGenetic testingHealthcare accessSequencing

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Area of Science:

  • Neuroscience
  • Genetics
  • Clinical Medicine

Background:

  • Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a significant genetic component.
  • Numerous genes associated with ASD have been identified, yet the extent of genetic testing in adult ASD populations remains unclear.

Purpose of the Study:

  • To determine the utilization rate of recommended genetic testing among adults with ASD.
  • To identify the proportion of adults with ASD who have positive genetic findings.

Main Methods:

  • Retrospective review of medical records for 630 adults diagnosed with ASD between May 2010 and December 2020.
  • Analysis of documented genetic testing history, methods used, and diagnostic outcomes.

Main Results:

  • Only 41% of adults with ASD had documented genetic testing.
  • Of those tested, only 54% received recommended methods (chromosomal array, sequencing panels, or exome sequencing).
  • A genetic cause for ASD was identified in 28% of tested individuals.

Conclusions:

  • Genetic testing for ASD is significantly underutilized in the adult population.
  • A substantial portion of adults with ASD lack documented genetic testing, suggesting a missed opportunity for diagnosis and management.
  • Reviewing genetic testing history and performing recommended tests could benefit adults with ASD.