Implementation of Epilepsy Multigene Panel Testing in Ontario, Canada.

Area of Science:

• Neurology
• Genetics
• Molecular Biology

Background:

• Epilepsy exhibits a strong genetic component, making genetic testing crucial for diagnosis.
• Next-generation sequencing (NGS) enables rapid screening of multiple epilepsy-related genes.
• Currently, Ontario lacks an in-province NGS-based epilepsy panel diagnostic test, leading to costly out-of-country testing.

Purpose of the Study:

• To establish a provincial epilepsy panel testing service in Ontario.
• To develop a programmatic approach for implementing genetic testing for epilepsy.
• To address the need for accessible and cost-effective genetic diagnostics.

Main Methods:

• Formation of an expert Working Group comprising medical geneticists and neurologists/epileptologists.
• Development of recommendations for implementing epilepsy panel testing.
• Focus on evidence-based testing and clinical utility.

Main Results:

• Recommendations include establishing a community healthcare outcomes-based program for provider education.
• Emphasis on evidence-based gene panels tailored to clinical indications to minimize uncertain or secondary findings.
• Proposal for an ongoing evaluation process to ensure continuous test improvement.

Conclusions:

• The epilepsy panel testing implementation plan serves as a model for provincial genetic care.
• This initiative will serve as a prototype for genetic testing in other genetically heterogeneous diseases.
• Aims to enhance genetic diagnostic capabilities within Ontario's healthcare system.