Brief Report: Pediatrician Perspectives Regarding Genetic Evaluations of Children with Autism Spectrum Disorder

Area of Science:

• Genetics
• Developmental Pediatrics
• Healthcare Policy

Background:

• Autism spectrum disorder (ASD) diagnosis often warrants genetic evaluation per current guidelines.
• However, uptake of genetic evaluations for children with ASD remains suboptimal.
• Pediatrician perspectives are critical in understanding and improving referral practices.

Purpose of the Study:

• To assess Utah pediatricians' knowledge, beliefs, and practices regarding genetic evaluations for children with ASD.
• To identify perceived barriers hindering genetic evaluation referrals.
• To explore factors associated with guideline adherence.

Main Methods:

• A survey was administered to pediatricians in Utah.
• The survey assessed knowledge of guidelines, beliefs about genetic evaluation, current practices, and perceived barriers.
• Statistical analysis explored correlations between pediatrician factors and guideline adherence.

Main Results:

• Over half of surveyed pediatricians lacked knowledge of current genetic evaluation guidelines for ASD.
• Many pediatricians held beliefs inconsistent with established guidelines.
• Key barriers included lack of insurance coverage and lengthy wait times for geneticist appointments.
• Alignment with guidelines and awareness of genetic counselors correlated with higher adherence.

Conclusions:

• Significant gaps in pediatrician knowledge and misaligned beliefs impede genetic evaluation referrals for ASD.
• Systemic issues, including insurance and access to specialists, present major obstacles.
• Targeted educational initiatives and policy-level changes are necessary to improve genetic care for children with ASD.