EGI
For Patients

EGI for PatientsEGI For Patients

For people with epilepsy, EGI is a place where you can have your genetic data (your exome) analyzed and reanalyzed in an effort to find the cause of your epilepsy.

Not everyone has a genetic cause of their epilepsy, but some people do. Finding the cause could one day help us to find the best treatments and ultimately a cure.


Eligibility

eligibilityWho can participate in EGI?

Anyone who has been diagnosed with epilepsy and has had exome testing done can enroll in EGI.

Before you decide whether to participate in any clinical research study, you should take time to educate yourself and to become familiar with how medical research works, what may or may not be expected of you and what the potential risks and benefits of participating may be. See our About Medical Research section for more information.

FAQ
Click the question to read the answer.

FAQs About EGI

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 EGI investigators have 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 this, 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 because the cause of the condition will be known. By participating you may learn more about the cause of your seizures, and you may help advance research.

Who is eligible?

Anyone who has been diagnosed with epilepsy and has had a test called exome sequencing done can be a part of EGI. This test is ordered by your doctor, often times a neurologist. People of any age and who live anywhere in the world can be a part of EGI. You can ask your doctor or neurologist if you’ve had this testing done.

What if I haven’t 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 is requested through your doctor.

Can I enroll now? How do I enroll?

Enrollment sites are currently being set up for EGI and more information will be available from these sites soon.

What is CURE’s role in enrolling people in EGI?

CURE will provide information to people with epilepsy, medical professionals and researchers about EGI and help them to understand what EGI is, however, CURE has no direct role in enrollment in EGI or reporting results back to families. This is done by the EGI Enrollment and Reporting Groups.

Will my doctor know about EGI?

DoctorSince EGI is just now being launched, there are doctors who may not be familiar with it yet.

We encourage you to tell them about EGI and have them visit the EGI webpage. They can also call CURE for answers to any questions not answered on the website.

How long will the EGI study last?

EGI will go on for many years. There is no set end date.


FAQs About Exome Sequencing

What’s the difference between an exome and a genome and how do I know what to get sequenced?

Researchers can look closely at large amounts of genetic information by sequencing, or "reading," every letter in your DNA (your genome). Sequencing of a person’s entire genetic code is called "genome sequencing." Sequencing the part of your genome that provides the instructions to make all the proteins in your body (your exome) is called “exome sequencing.”

How much does the testing cost?

Exome sequencing in a clinically certified lab in the U.S usually costs about $7,000-$10,000 USD.

Will insurance cover any part of the cost of exome sequencing?

In some cases, insurance will cover part or all of the costs of exome sequencing. In some cases, insurance will not cover this test at all. You will have to ask your insurance company if it is a covered test. Read here to find more about why exome sequencing is important.

Where do I get exome sequencing done?

Your doctor will order the test for exome sequencing and the testing will be done at one of numerous clinically-certified genetic testing labs across the country.

What does exome sequencing involve?

To have exome sequencing done requires a blood test ordered by your doctor and sent to the testing lab.


FAQs About the Data in EGI

How does my 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 be put in 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.

What type of clinical information will EGI collect?

data collectedAll data will be collected in a secure, protected manner and will be strictly confidential. Only data where all identifying information has been removed will go into the EGI database. The following information will be provided by the doctor for each person in EGI:

  • 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

Who sees my personal information?

Only your doctor and the EGI genetic counseling team will see your personal information. All other data in EGI, including your exome sequence data and your clinical information, will not contain any identifying information. Your data will be assigned a study number and only the doctor and EGI genetic counseling team will know which numbers are assigned to which patients.

How do you guarantee confidentiality?

Your personal data will be collected in a secure, confidential database that is maintained separately from the EGI database and is password protected. Only the EGI genetic counseling team will have access to this private database.

What are my data used for?

Your data will be repeatedly analyzed by our EGI researchers to identify causes of epilepsy. The data may also be used for research purposes in an effort to increase our understanding of epilepsy.

Who manages the repository? Is it all online?

The repository is managed by the EGI Team which includes representatives from CURE, the University of Melbourne, University of California – San Francisco, and Duke University. The data will be kept in a secure and confidential set of databases that are not directly linked to the internet.

How long are my data stored for?

Your data will be stored indefinitely in the EGI database.

What if I decide I want my data removed in the future?

You may withdraw from EGI at any time without penalty or loss of benefits to which you are entitled. We ask that you contact your physician or EGI in writing to let them know of your decision. At that time we will ask you to indicate in writing if you want your data destroyed or if your data (having all identifying information removed that would link the information to you) may continue to be used for epilepsy research.

Where is the research conducted?

The repeat analysis of your exome data will be done by contracted EGI investigators at Duke University. Other research may be conducted anywhere in the world by epilepsy researchers who must first request access to the data. These researchers will only receive data that contains no identifying information that can be linked back to you.


FAQs About Causes of Epilepsy found by EGI

What if something is discovered in my DNA?

Any relevant findings related to the cause of your epilepsy will be reported back to your doctor. You will be asked if you want incidental findings (genetic changes that may affect your health but are not relevant to your epilepsy) reported back to your doctor.

diagram

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 your doctor. Not everyone’s epilepsy has a clear genetic cause. Because of this, a cause for your 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 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 your doctor.

Has anyone benefitted from exome sequencing testing?

Yes. See here for some examples.

About Medical Research

Be Informed
If you are considering enrolling in a medical research project, there are many things to think about. Understanding the basics of medical research and the process can help you make a more informed decision. The following information will help get you started.

What is medical research?
Medical research is research conducted to increase knowledge in the field of medicine. This can be divided into two general categories: new treatments that are tested in clinical trials and all other research contributing to medical practice. EGI is a genome research study and investigators will be looking for patterns in DNA that contribute to the development of epilepsy.

The decision to participate in medical research is a very personal one, and there are guidelines to protect study participants. Research in humans is permitted only in volunteers who have been briefed about both Medical Researchthe potential benefits and hazards of trial participation. This is called informed consent. It is the responsibility of the study’s medical team to explain the risks to potential study participants.

Before enrolling in a research study, it is important to fully understand what participation means. The informed consent statement has detailed information about the study, including the length of the study, medical procedures required and any other information relevant to the study. It also provides expected outcomes, potential benefits and possible risks. After receiving this information, the patient should discuss study participation with his or her physician and family. Volunteers may leave a study at any time.

In order to help patients make this very important decision, the National Institutes of Health (NIH) developed the following set of questions. The study coordinator and your personal physician can help you answer these questions. You should feel comfortable with your answers before enrolling in any study:

  • What is the purpose of the study?
  • What is required of me?
  • What is my role in the study? Am I a healthy volunteer or a patient volunteer?
  • Will the study directly benefit me?
  • Will the study benefit others?
  • Are there risks? If so, what are they and what are the chances that they will occur?
  • What discomforts are involved?
  • What is the total time involved?
  • Are there other inconveniences?
  • Have I discussed participation in the study with those who are important to me, such as family and friends?
  • Do I wish to participate in this study?


For more information

The following sites contain additional information that may be of interest if you are considering participating in a medical research study:

Clinical Research and You
www.nih.gov/health/clinicaltrials/

Genes in Life - Research in People
genesinlife.org/research/research-people

What is Genetic Research?
geneticsawareness.org/learn-about-genetics/what-is-genetic-research

About Informed Consent
nihseniorhealth.gov/participatinginclinicaltrials/informedconsent/01.html

 

This information adapted with permission from: www.epgp.org

Genetic Testing in Epilepsy

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GLOSSARY OF TERMS
Glossary
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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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