EGI 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.
Click here to download an EGI Info Sheet for families and clinicians.
Who 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.
Click the question to read the answer.
FAQs About EGI
People with epilepsy may enroll at any one of the 8 EGI enrollment sites listed below:
There are doctors who may not be familiar with us yet so we encourage you to tell them about EGI and have them visit the EGI webpage. Click here to download an EGI Info Sheet for families and clinicians to share with your doctor.
They can also call or email us for answers to any questions not answered on our website.
FAQs About Exome Sequencing
FAQs About the Data in EGI
All 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:
FAQs About Causes of Epilepsy found by EGI
There are 3 main types of results that may come out of EGI:
Only genetic changes known to cause epilepsy will be reported back to your doctor. 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 your epilepsy cannot be guaranteed from EGI.
About Medical Research
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 the 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. Your personal physician can help you answer these questions. You should feel comfortable with your answers before enrolling in any 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:
Genes in Life - Research in People
What is Genetic Research?
About Informed Consent
Clinical Research and You
This information adapted with permission from: www.epgp.org
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 physician, download our infographic: Why Exome Sequencing for Epilepsy is so Important (pdf)