Genetic Epilepsies:
Voice of the Patient and Family
What the patient experience reveals about diagnosis, disease burden, and therapy access
Why This Matters
Rare epilepsies are entering a new era of precision medicine. There is an unprecedented pipeline of targeted therapies being developed for rare epilepsy syndromes yet that has not translated into broad access for patients and families.
This white paper combines patient and family-reported insights with peer-reviewed literature that highlights critical gaps and opportunities in genetic testing, early diagnosis, and precision medicine.
What You’ll Learn
Drawing on insights from Genome Medical’s nationwide epilepsy patient cohort, this report explores:
- Long and often preventable diagnostic delays
- Barriers to accessing genetic testing
- A disease burden that extends beyond seizures
- Strong interest in new therapies but limited awareness of trial opportunities
