EGI
For Physicians

EGI For PhysiciansEGI 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!

eligibilityEligibility 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:

  • Demographics (date of birth, age, gender, race and ethnicity)
  • Family history of epilepsy and other relevant medical conditions
  • Birth and neonatal history
  • Epilepsy history (risk factors, age of first seizure, seizure type(s), EEG results and neuroimaging results)
  • Development/cognition information (development delays, IQ)
  • Other medical conditions that are present in the patient
  • Abnormal genetic or metabolic testing
  • Epilepsy classification, syndrome, etiology, response to treatments and outcome
  • Is the patient in any other databases/studies? (e.g. Epi4K, EPGP, PERC, REN, etc.)
  • Info on who is completing the form/date

FAQ
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What is EGI?

EGI is a database created by CURE, in partnership with NINDS, to hold the genetic data of patients with epilepsy. After the diagnostic laboratory has screened the data for known genetic causes of epilepsy, the data will be stored and reanalyzed at least every 6 months to look for new genetic causes of epilepsy. Anything found in the analysis will be reported back to the doctor, who will inform the patient once the finding has been validated in a CLIA-certified lab. If the person with epilepsy agrees, the data will also be used for research to help scientists better understand epilepsy.

Why would I want to be a part of EGI?

Two out of three people with epilepsy don’t know the cause of their condition. Genetics is helping us to change that, but to be as successful as possible the genomes of many people with epilepsy must be studied together. Finding the genes that cause epilepsy could help us find the cures faster. By participating in EGI, you may learn more about the cause of your patient’s seizures, and this may now, or one day, guide treatment options.

Who is eligible?

Anyone who has epilepsy and has had exome sequencing done, can be a part of EGI. The exome sequencing test is ordered by a doctor, often times the neurologist. People of any age, or in any country, can be a part of EGI.

What if a patient has not had exome testing done yet?

Right now, EGI is only accepting patients who have had exome sequencing done or are currently having it done. This test may be ordered and involves a blood test and sending the sample out for testing. The cost is usually $7,000-$10,000 USD. In some cases insurance will cover this test, by in some cases it will not. Read here to find out more about why exome sequencing is an important test to have done.

When can patients enroll?

Enrollment sites are currently being set up for EGI and more information will be available from these sites soon. If you would like to become an EGI enrollment site, please contact us. EGI will go on for many years and there is no set end date. Patients may withdraw from EGI at any time.

How does data get into the EGI database?

How Data Gets In
A patient must sign an informed consent document in order to release their data to EGI. The doctor will fill out the clinical information form for submission into EGI and will request that the genetic testing lab release the exome sequence data to EGI. The EGI data will be kept strictly confidential and only de-identified patient data will be entered into EGI. The Genetic Counseling Team at EGI will be responsible for maintaining confidentiality and separation of all personal health information in EGI.

What if something is discovered in my patient’s DNA?

Any relevant findings related to the cause of your patient’s epilepsy will be reported back you, the doctor, who must have the findings validated in a CLIA certified lab before reporting them back to your patient. EGI can help guide this step. At the time of consent, the patient will be asked if they want incidental findings (genetic changes that may affect their health but are not relevant to their epilepsy) reported back. If they agree, these will be reported back to you, their doctor, as well.

What types of results can I expect from the testing being done?

There are 6 main types of results that may come out of EGI:

  • No cause of the epilepsy is found.
  • A previously reported epilepsy-causing genetic change in a known epilepsy-causing gene may be found.
  • A novel genetic change in a known epilepsy-causing gene may be found.
  • A novel genetic change in a gene related to other genes that cause epilepsy may be found.
  • A novel genetic change in a novel gene not previously shown to cause epilepsy may be found.
  • A genetic change associated with another known disease may be found.

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.

How long does it take to get results?

New causes of epilepsy are constantly being identified through research but not everyone’s epilepsy has a clear genetic cause. Because of this, finding the cause of your patient's epilepsy cannot be guaranteed from EGI nor can we predict when a cause will be identified. The data will be analyzed on a regular basis, and when something is found, the results will be reported back to you.

Has anyone benefitted from exome sequencing testing?

Yes. See here for some examples.



See the FAQs for Patients for more detailed information about EGI

Genetic Testing in Epilepsy

Coming Soon

GLOSSARY OF TERMS
Glossary
Need help with a DNA term? Find out what it all means with our handy Glossary of Terms.



 

CURE
CURE Citizens United for Research in Epilepsy is a nonprofit organization dedicated to finding a cure for epilepsy
by raising funds for research and by increasing awareness of the prevalence and devastation of this disease.
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