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 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:

  • Signed consent of the patient (or family) to participate in the study
  • Completion of a detailed clinical information form by the treating physician
  • Completion of a request to transfer data from the genetic testing lab by the patient and physician

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, Seizure Tracker, etc.)
  • Extreme positive or negative response to a therapy
  • Info on who is completing the form/date

FAQ
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What is EGI?

EGI is an initiative to connect patients, clinicians, and researchers. EGI has created a database to house the genetic data of people with epilepsy. The data (exome data) will be screened for known genetic causes of epilepsy and will be re-analyzed, at least every 6 months, to look for new genetic causes of epilepsy. Any cause found in the analysis will be reported back to the treating doctor, who will inform the patient once the finding has been validated in a 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, but 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?

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.

How does data get into the EGI database?

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 a form to 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.

What types of results can I expect from the genetic testing?

There are 3 main types of results that may come out of EGI:

  • No cause of the epilepsy is found.
  • A genetic change suspected to cause epilepsy may be found.
  • A genetic change known to cause epilepsy may be found.

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.

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.



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)

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



 

CURE
CURE's mission is to cure epilepsy, transforming and saving millions of lives. We identify and fund cutting-edge research,
challenging scientists worldwide to collaborate and innovate in pursuit of this goal. Our commitment is unrelenting.
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