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A new epilepsy genetic testing service significantly improved diagnosis rates in children under two years old, reducing diagnostic delays and costs. The service was highly rated by clinicians and families, highlighting the value of genetic counseling.

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Area of Science:

  • Genetics and Genomics
  • Neurology
  • Clinical Diagnostics

Background:

  • Epilepsy diagnosis is challenging, particularly in early-onset and treatment-resistant cases.
  • Current diagnostic pathways can be lengthy and costly, leading to significant delays in genetic diagnosis.
  • Genetic factors play a crucial role in many epilepsy syndromes, necessitating advanced diagnostic approaches.

Purpose of the Study:

  • To evaluate the diagnostic yield, clinical impact, and cost-effectiveness of a new epilepsy genetic diagnostic and counseling service.
  • To assess the service's utility across a large UK population, focusing on patients with early-onset, treatment-resistant, or familial epilepsy.
  • To compare the cost and diagnostic delay of gene panel testing versus traditional investigational pathways in neonatal epilepsy.

Main Methods:

  • Development and implementation of next-generation sequencing (NGS) panels for epilepsy genetic testing.
  • Clinical interpretation of results by a multidisciplinary team, including genetic counselors.
  • Surveying referring clinicians and families to assess satisfaction and perceived clinical impact.
  • Cost analysis of alternative investigational pathways for neonatal onset epilepsy.

Main Results:

  • A genetic diagnosis was achieved in 34% of patients with seizure onset < 2 years and 4% with onset > 2 years.
  • Identified pathogenic variants in key epilepsy-associated genes including SCN8A, SCN2A, SCN1A, KCNQ2, HNRNPU, GRIN2A, SYNGAP1, STXBP1, STX1B, CDKL5, CHRNA4, PCDH19, and PIGT.
  • Reduced the cost of neonatal epilepsy investigations from £9362 to £2838 by implementing earlier gene panel testing.
  • Significantly decreased the median diagnostic delay from 3.43 years to 21 days.
  • Clinicians' pre-testing prediction of genetic diagnosis was poor, underscoring the need for comprehensive genetic testing.
  • Referring clinicians and families reported high satisfaction with the service.

Conclusions:

  • Epilepsy panel testing demonstrates high diagnostic yield in children with early-onset epilepsy (< 2 years).
  • The service offers substantial clinical and financial benefits, significantly reducing diagnostic delays and investigation costs.
  • Multidisciplinary interpretation and skilled genetic counseling are essential for effective clinical implementation and family support.