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 by you, their doctor, or at one of our participating enrollment centers.
If you would like your institution to become an EGI enrollment site, the EGI Enrollment team will soon be ready to assist you with securing IRB approval at your institution. Once approved, you can move forward with the enrollment process which begins with obtaining consent from your patients to participate in the study. You will then need to complete the required clinical information form and initiate the exome data transfer process. The costs of doing this will be covered by EGI.
If you would like your patient(s) to be enrolled but you do not want your institution to become an enrollment site, they may be enrolled in person or over the phone at any of the current EGI enrollment sites. The EGI team can assist you in getting this set up. In this case, you would give EGI permission to contact your patient(s) and the EGI team will work to enroll them in the study. Contact a member of the EGI team for more information on enrollment.
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
There are 6 main types of results that may come out of EGI:
Genetic changes known to cause epilepsy will be reported back to the doctor. Not everyone’s epilepsy has a clear genetic cause. Because of this, a cause for the epilepsy cannot be guaranteed from EGI.
See the FAQs for Patients for more detailed information about EGI
Genetic Testing in Epilepsy