Genomic testing in pediatric epilepsy.

Area of Science:

• Neurogenetics
• Pediatric Neurology
• Genomic Medicine

Background:

• Genomic testing is increasingly routine for pediatric epilepsy diagnosis and management.
• Clinical genomic testing, while less than a decade old, is rapidly evolving in its application and interpretation.
• Traditional single-gene testing previously yielded diagnoses in less than 5% of epilepsy cases.

Purpose of the Study:

• To review key studies on genomic testing in pediatric epilepsy over the past decade.
• To identify clinical scenarios where genomic testing is considered standard of care.
• To discuss the evolving role and interpretation of genomic testing in epilepsy management.

Main Methods:

• Review of significant clinical genomic studies in pediatric epilepsy from the last 10 years.
• Analysis of diagnostic yield and impact on patient management.
• Identification of specific clinical contexts for standard genomic testing.

Main Results:

• Genomic testing demonstrates a clinically significant diagnostic yield of 30% or more in pediatric epilepsy patients.
• Genomic testing provides etiological explanations and informs treatment strategies.
• Significant advancement from the <5% diagnostic rate of prior single-gene testing.

Conclusions:

• Genomic testing has transformed pediatric epilepsy diagnosis, offering substantial improvements over older methods.
• The utility of genomic testing in epilepsy is well-established, with increasing application.
• Specific clinical scenarios now warrant genomic testing as the standard of care for optimal patient outcomes.