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Genetic needs assessment of children with intellectual disability, developmental delay, hearing loss, and/or autism

Chloe Meier1, Gwen Gunn1, Aileen Kenneson2

  • 1Emory University School of Medicine Department of Human Genetics, Atlanta, GA, USA.

Pediatric Research
|November 20, 2025
PubMed

Insights

Many children with developmental conditions are not referred for genetic testing due to insurance and racial barriers. Addressing these issues is crucial for improving access to essential genetics services for pediatric patients.

Area of Science:

  • Pediatric Genetics
  • Healthcare Access
  • Health Disparities

Background:

  • Genetic referrals are crucial for diagnosing pediatric conditions like autism spectrum disorder (ASD), developmental delay, and hearing loss.
  • Despite guidelines, only 20-50% of eligible children with ASD, developmental delay, or intellectual disability receive genetic testing referrals.
  • Numerous barriers prevent referred children from accessing necessary genetics services.

Purpose of the Study:

  • To investigate barriers impeding pediatric patients' access to genetics services.
  • To identify factors influencing referral and attendance at genetics consultations for children with developmental conditions.
  • To address under-represented study populations in the literature regarding genetics service access.

Main Methods:

  • An online survey was administered to parents of young children diagnosed with relevant conditions in South Carolina and Florida.
  • Participants were identified through early intervention programs and family-professional organizations.
  • The survey focused on experiences with referral to genetic services and barriers to attending consultations.

Main Results:

  • Insurance coverage for genetic testing emerged as a significant barrier to both referral and attendance.
  • A child's race was identified as a predictor of attendance at genetics consultations post-referral.
  • These findings highlight critical factors affecting access to pediatric genetics care.

Conclusions:

  • Addressing insurance coverage and racial disparities is essential to improve pediatric patients' access to genetics services.
  • Enhanced genetics education and improved service accessibility are vital.
  • The study underscores the need for systemic changes to ensure equitable healthcare access for children with developmental conditions.
Abstract

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