Preparing for Your Epilepsy Neurogenetics Initiative (ENGIN) Appointment

What to expect at your first visit

Every child referred to the Epilepsy Neurogenetics Initiative (ENGIN) will meet with an attending neurologist and a genetic counselor with specialty training and experience in the diagnosis and management of genetic epilepsies. A program manager and clinical coordinator will help coordinate scheduling of the comprehensive evaluation. Team members will be available to answer any questions before or after the appointment.

Your child’s comprehensive evaluation will include:

  • Comprehensive physical and neurological examination
  • Detailed review of medical and family history
  • Genetic counseling
  • Genetic testing tailored to each individual, which, depending on the evaluation and any previous testing done, may include:
    • Chromosomal microarray analysis
    • Epilepsy panel
    • Whole exome sequencing
  • Physical and occupational therapy evaluation
  • Neurosurgical evaluation to determine if your child may benefit from epilepsy surgery (resective brain surgery or implantation of neuromodulatory devices)
  • Evaluation for potential dietary therapy
  • Evaluations with other subspecialists (as indicated)

All patients will also meet with a clinical research coordinator and are offered the opportunity to enroll in a suite of innovative research studies. Participation in research helps us discover new genetic causes of epilepsy, learn more about known genetic epilepsy syndromes, and helps us develop individualized gene-specific treatments that could benefit your child and other children around the world.

For patients who do NOT HAVE a genetic diagnosis

Based on the results of the initial evaluation, we may recommend a genetic testing plan in consultation with your family. Next steps during the appointment may include:

  • Consent for genetic testing: Some types of genetic testing require signatures from parents/guardians to indicate that they understand the benefits/limitations of the genetic testing and that they consent to proceed. A genetic counselor will review all information related to the recommended genetic test with your family.
  • Blood draw: Most genetic tests require a blood sample, which can typically be drawn at the CHOP outpatient lab.
  • Plan for follow-up: The time to your follow-up will depend upon which genetic tests are ordered during your visit, ranging from two to four months, at which time we will discuss the results of the genetic testing. If testing is negative, we may proceed to another phase of testing. If testing is positive, we will use this information to formulate an individualized treatment plan. After initial follow-up, all patients are seen every one to two years.

For patients who HAVE a genetic diagnosis

If your child already has a genetic diagnosis from prior genetic testing, the attending neurologist and genetic counselor will review your child’s previous genetic test results.

The team will provide details about the latest information known about your child’s genetic syndrome, assist in connecting you with patient/family groups organized around the specific diagnosis, and facilitate enrollment in any relevant clinical trials or research studies. We will then provide recommendations for individualized treatment and management.

Insurance coverage

Coverage of genetic testing varies depending on the individual health insurance policy. Before any testing is ordered, our team of genetic counselors, genetic counseling assistants, and insurance coordination specialists works with each family’s insurance company to determine whether genetic testing is covered by your insurance policy and what out of pocket costs you may incur. We will work with your insurance company to obtain the necessary authorizations and coordinate appropriate documentation needed.

What comes next: Treatment planning

Based on the results of the comprehensive evaluation and genetic testing, our clinical and research teams work with referring physicians and families to create a personalized care plan.

Depending on your child’s specific genetic diagnosis, we will coordinate appointments with other medical specialists as needed for the best management of your child’s disease. For ongoing epilepsy treatment, your child’s care may be managed through CHOP’s Pediatric Epilepsy Program, where you’ll find the full range of epilepsy therapies, from medication and dietary treatment to epilepsy surgery (resective brain surgery or implantation of neuromodulatory devices), as well as ongoing follow-up care.

We will also coordinate evaluations with other specialists as needed, including cardiology, gastroenterology, and neuro-ophthalmology. All affiliated providers have experience treating children with genetic epilepsies.

For all patients, we typically recommend a follow-up appointment with the Epilepsy Neurogenetics Initiative 12 to 24 months after your initial visit for repeat neurological examination and neurodevelopmental assessment; to monitor your child’s progress and response to any treatments and therapies started; and to share information on the latest advances in the field, such as new research, enrolling clinical trials, and available therapies.