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Developmental implications of genetic testing for physical indications
Danielle A Baribeau1,2,3, Ny Hoang4,5,6, Thanuja Selvanayagam4,6
1Department of Psychiatry, The Hospital for Sick Children, Toronto, ON, Canada.
Insights
Genetic testing for physical health in children often reveals risks for neurodevelopmental disorders. Over half of diagnostic results showed links to conditions like autism or intellectual disability.
Area of Science:
- Pediatric Genetics
- Neurodevelopmental Disorders
- Clinical Diagnostics
Background:
- Genetic testing is crucial for diagnosing physical and congenital health issues in children.
- Understanding the broader implications of these tests is essential for comprehensive care.
Purpose of the Study:
- To determine the frequency of neurodevelopmental disorder associations in genetic tests ordered for physical health concerns in pediatric patients.
- To highlight the clinical utility of genetic testing beyond initial physical indications.
Main Methods:
- Analysis of 3056 genetic tests (chromosomal microarrays and next-generation sequencing panels) from children with physical health problems.
- Manual review of pathogenic/likely pathogenic variants for diagnostic likelihood and association with neurodevelopmental disorders (e.g., autism, intellectual disability).
Main Results:
- 10% of chromosomal microarrays and 17% of next-generation sequencing panels yielded diagnostic results.
- Over 52% of all diagnostic genetic tests revealed established evidence of neurodevelopmental disorder associations.
Conclusions:
- Genetic tests ordered for physical/congenital conditions frequently identify risks for neurodevelopmental disorders.
- There is an increasing need for integrated genetics-first developmental care pathways in pediatrics.
Abstract:
In children undergoing genetic testing for physical health concerns, we examined how often the results also revealed information about their risk for neurodevelopmental disorders. The study sample consisted of 3056 genetic tests (1686 chromosomal microarrays--CMAs, and 1378 next-generation sequencing--NGS panels) ordered at a tertiary pediatric hospital because of a physical/congenital health problem. Tests ordered to investigate developmental concerns were excluded. Pathogenic, or likely pathogenic variants were manually reviewed for diagnostic likelihood, and for evidence of an association with a neurodevelopmental disorder (e.g., autism or intellectual disability). A total of 169 CMAs (10%) and 232 NGS panels (17%) had likely diagnostic results. More than half (52%) of all diagnostic results had established evidence of a neurodevelopmental disorder association. In summary, there is a high prevalence of neurodevelopmental implications from genetic tests ordered for physical/congenital indications. This broad clinical utility suggests a growing need for genetics-first developmental care pathways.
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