counselor with couple

What is genetic counseling?

family genetic counseling
Courtesy: National Human
Genome Research Institute
genome.gov

As defined by the National Society of Genetic Counselors (NSGC), genetic counseling is the process of helping people understand and adapt to the medical, psychological and family effects of how genes are related to disease. For instance:

  • How inherited diseases and conditions might affect you or your family
  • How family and medical histories may impact the chance of disease occurrence or recurrence
  • Which genetic tests may or may not be right for you, and what those tests may or may not tell
  • How to make the most informed choices about healthcare conditions

What caregivers are part of a genetic epilepsy team?

Genetic Counselor

A genetic counselor is a healthcare provider with graduate school training in both genetics and counseling. They are often involved in a person's care if genetic testing is being considered. Genetic counselors help to

  • Evaluate a person’s medical and family history to determine the best tests to order
  • Advise families on the benefits and limitations the tests
  • Order genetic tests
  • Help the person and their family understand the results
  • Identify advocacy groups, clinical research opportunities, and resources

Geneticist

A geneticist is medical doctor with additional residency and training in genetic conditions. A geneticist will typically perform a physical evaluation and review past medical and family history to find possible genetic causes. Geneticists also choose genetic tests, interpret them, and explain them to families.

Epileptologist

An epileptologist is a neurologist with additional training and expertise in diagnosing and treating epilepsy. Epileptologists are experts in reading EEGs, prescribing anti-seizure medications, and managing seizure disorders.

Epilepsy Nurse Specialist

An epilepsy nurse specialist is a nurse with additional training and qualifications in the treatment of people with epilepsy. They prescribe medications, support and educate people, and advise families on the management of seizure disorders.

Social Worker

A social worker connects people to financial, social, and psychological resources to help them cope with the demands of a chronic medical condition.

Reasons for Genetic Counseling

Genetic counseling can be a useful resource for individuals with epilepsy throughout their lives, from initial diagnosis and treatment to reproductive decision making and planning for the next generation.

Planning for Pregnancy

pregnant woman
 

Men and women with a personal or family history of epilepsy who are considering starting a family may be interested in genetic counseling and genetic testing prior to having children.

Genetic testing results may inform them of their chances of having a child who is also affected by epilepsy. A genetic counselor can help to explain the different inheritance patterns and ensure that couples are well-informed about their reproductive options.

Caring for a Child

parent and child
 

Having a specific genetic diagnosis can be very helpful to families caring for a child with epilepsy. Some genetic epilepsy diagnoses have precision medicine implications, including

  • Guidance on medication or alternative treatment selection
  • Avoidance of contraindicated medications
  • Access to life-altering enzyme replacement or gene therapies

Genetic testing and genetic diagnosis allow families with this subset of actionable genetic epilepsies and their care teams to treat their epilepsy with a more targeted approach that can often improve neurological outcomes.

Clinical Trials

microscope
 

There are also many diagnoses for which clinical trials are ongoing and new therapies may become available in the near future. Genetic testing can identify people who may qualify to participate in research that could lead to improved treatments and, in some cases, cures. In either case, a genetic diagnosis can provide access to research opportunities that would not otherwise be available.

Connecting and Resources

handshake
 

There are many genetic epilepsies that do not currently have gene-specific treatment or management options. However, a genetic diagnosis may still be helpful in

  • Advocating for appropriate resources
  • Connecting people and families with diagnosis-specific advocacy groups, specialized clinics or care teams, or researchers studying a specific genetic epilepsy
  • Helping families better understand and come to terms with their child’s diagnosis
  • Reducing feelings of guilt, frustration, and isolation that can often come with having a child with complex medical concerns
  • Preventing the need for additional invasive tests or procedures that might have continued in the search for an answer

Managing Your Health (Individuals, Adults)

people and wheelchair
 

Genetic testing is often more accessible in the pediatric setting than it is for adults. Yet a genetic diagnosis may also be very helpful in adults with epilepsy. Testing should not be overlooked in this population.

Many adults currently living with genetic epilepsies were born long before genetic testing was available or during a time when testing was limited to very few genes. Revisiting testing in adulthood may allow for a much more thorough and informative genetic evaluation.

A genetic diagnosis may provide

  • Access to specific resources and providers
  • Guidance on medication selection and other treatment options
  • Accurate genetic counseling advice about reproductive risks and testing before or during pregnancy
  • Further knowledge on the long-term prognosis of genetic epilepsies through research

Where to Find Help

Locating a Genetics Clinic and Provider

Your or your child’s healthcare provider may be able to refer you to a genetics clinic in your community. Your health insurance company may also be able to help you find a geneticist or genetic counselor who participates in your plan.

There are several online resources that can also be helpful in identifying a nearby genetics professional:

Authored By: 
Tamara Reynolds MS, LGC
Katie Angione MS, CGC
Authored Date: 
12/2019
Reviewed By: 
Annapurna Poduri MD, MPH
Beth Rosen Sheidley MS, CGC
Elaine Kiriakopoulos MD, MSc
Elaine Wirrell MD
on: 
Monday, December 23, 2019