Clinical Implementation and Outcomes of Genetic Testing for Epilepsy by the Ontario Epilepsy Genetic Testing Program

Area of Science:

• Neurogenetics
• Clinical Genetics
• Epilepsy Research

Background:

• Epilepsy affects 4-5 per 1000 individuals in Ontario, Canada.
• Genetic testing is increasingly used in epilepsy care but faces challenges in test selection and result interpretation.
• Provider-dependent variability impacts the consistency of genetic testing in epilepsy management.

Purpose of the Study:

• To establish standardized clinical testing criteria for epilepsy genetic testing.
• To assess the diagnostic yield and clinical utility of genetic testing in a provincial program.
• To enhance genetics literacy among healthcare providers involved in epilepsy care.

Main Methods:

• The Ontario Epilepsy Genetic Testing Program (OEGTP) was launched in 2020.
• Developed clinical testing criteria and curated gene content.
• Utilized a centralized laboratory for standardized next-generation sequencing panels.
• Collected post-test outcomes reported by ordering clinicians.

Main Results:

• Achieved an overall diagnostic yield of 20.8% in the first two years.
• Identified pathogenic sequence and copy number variations through next-generation sequencing.
• Routine family member testing helped resolve ambiguous genetic findings.
• Clinical benefits of genetic testing were highlighted through reported post-test outcomes.

Conclusions:

• The OEGTP demonstrates a successful programmatic approach to epilepsy genetic testing.
• Collaboration with clinical and laboratory stakeholders was crucial for program insights.
• This initiative provides valuable data on province-wide implementation of genetic testing programs.