ArticlePediatric research2026
Genetic needs assessment of children with intellectual disability, developmental delay, hearing loss, and/or autism spectrum disorder.
Article in Pediatric research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
3 authors.
Funding
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Abstract
backgroundReferral to genetics specialists plays a pivotal role in the diagnostic journey of pediatric patients with conditions such as autism spectrum disorder (ASD), developmental delay, intellectual disability, and hearing loss. Although there are referral guidelines in place from the American College of Medical Genetics and Genomics (ACMG), not all eligible children receive referrals. Among individuals with ASD, developmental delay, or intellectual disability, only about 20-50% of eligible patients are referred for genetic testing. Additionally, further barriers hinder those who are referred from accessing care. Our study delves into these often-overlooked barriers impeding pediatric patients' access to genetics services.
methodsWe invited the parents of young children with one of the aforementioned conditions, identified through early intervention and related programs, including family-professional organizations, in South Carolina and Florida, to complete an online survey about referral to genetic services and barriers to attending a genetics consultation.
resultsInsurance coverage for genetic testing was a barrier both for referral to genetics and attendance at a genetics consultation. The child's race was a predictor of attendance at a genetics consultation after referral.
conclusionOur study highlights the critical need to address barriers, such as insurance coverage and racial disparities, that prevent pediatric patients from accessing genetics services. IMPACT: We investigated barriers to genetic services for pediatric patients who were not referred or who were referred but never attended, study populations that are under-represented in the literature. This study sheds light on key factors influencing referral to and attendance at genetics consultations for pediatric patients, including race and health insurance coverage for genetic testing. Our findings emphasize the need for genetics education and improved accessibility to genetics services.
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