EGI for Physicians
EGI is a place where you can have your patient’s exome data deposited. The data will undergo repeat analysis using the most cutting edge analysis methods in an effort to find the cause of their epilepsy. Not everyone has a genetic cause of their epilepsy, but some people do.
Finding the cause is very important to many patients and is a major step in advancing our understanding of epilepsy. The confidential, de-identified data in EGI will also be used to drive medical research. Research into which medications are best/worst for which types of epilepsy and which genes underlie the epilepsy comorbidities (e.g. autism) will become research possibilities with EGI. And this is only the beginning!
Eligibility and Enrollment
Anyone who has epilepsy and has had exome testing done in a clinically certified laboratory can enroll in EGI. Patients may be enrolled at one of our participating enrollment centers, or may enroll remotely with the help of their doctor and with support from the EGI Team. The enrollment process includes:
About the Data
All data will be collected in a secure, protected manner and will be kept strictly confidential. Only data where all identifying information has been removed will go into the EGI database. The sequencing lab will provide raw exome sequence data files (BAM/FASTQ) to EGI. The doctor will provide the following clinical information:
Click the question to read the answer
Patients may be enrolled anytime at one of our participating enrollment centers, or may enroll remotely with the help of their doctor and with support from the EGI Team. To enroll a patient, contact one of our enrollment sites or contact us at CURE for more information EGI@CUREepilepsy.org.
There are 3 main types of results that may come out of EGI:
Only genetic changes known to cause epilepsy will be reported back. While genetic factors play a role in every epilepsy, not everyone’s epilepsy will have a clear genetic cause. Because of this, finding a cause for epilepsy cannot be guaranteed from EGI.
See the FAQs for Patients for more detailed information about EGI
Genetic Testing in Epilepsy
Advancing our understanding of the genetic causes of epilepsy will allow us to improve the ways we anticipate, prevent, diagnose, and treat epilepsy.
To begin a discussion with your patient, download our infographic: Why Exome Sequencing for Epilepsy is so Important (pdf)