Factors Associated With Underutilization of Genetic Testing in Autism Spectrum Disorders.

Area of Science:

• Genetics
• Pediatrics
• Developmental Disorders

Background:

• Autism spectrum disorder (ASD) diagnosis often warrants genetic testing.
• Chromosomal microarray (CMA) is a key genetic test for ASD.
• Factors influencing CMA completion in ASD are not fully understood.

Purpose of the Study:

• Identify patient and provider factors associated with low completion rates of CMA for ASD.
• Understand barriers to genetic testing in individuals diagnosed with ASD.

Main Methods:

• Retrospective medical record review of children with new ASD diagnoses.
• Study period: February 2015 to January 2016 at a single academic medical center.
• Analysis of factors associated with CMA completion over at least 18 months post-diagnosis.

Main Results:

• Only 41.9% of individuals with ASD completed CMA testing within 18 months.
• CMA completion was inversely associated with patient age and directly associated with intellectual disability, family history of ASD, and public insurance.
• Parental concerns and cost/insurance coverage were primary barriers.

Conclusions:

• Implementing streamlined workflows for genetic testing post-diagnosis is crucial.
• Provider recommendation at diagnosis and increased follow-up visits correlate with higher CMA completion.
• Genetic counseling addressing test utility, phenotypic variability, and de novo variants can enhance utilization.