A genetic counselor helps you and your family understand genetic testing options, results, and diagnoses. Your genetic counselor provides continued support throughout the diagnostic process, regardless of whether genetic testing is ordered or a diagnosis is made.
Genetic counseling may be recommended for:
- Developmental delays
- Autism spectrum disorder
- Intellectual disabilities
- Movement disorders
- Cerebral palsy
- Muscle and nerve disorders
- Seizures and epilepsy
- Structural brain abnormalities
- A family history of any of the above
When you ask for a referral to a genetic counselor, that doesn’t mean your child will receive a genetic test. Your genetic counselor reviews your child’s health and family history to help you decide whether testing is necessary and to determine what, if any, testing is right for your child.
Common genetic tests include:
- Chromosome analysis—This test looks at the number and arrangement of a person’s chromosomes. We expect most people to have 46 total chromosomes. Having more or less can cause differences in a person’s health and development.
- Chromosome microarray—This test looks for missing or extra pieces of genetic information called deletions and duplications. Not all deletions and duplications cause health problems, but some can cause differences in neurodevelopment.
- Targeted gene panel—This test looks very closely for small genetic differences in a specific set of genes. A genetic counselor can choose which genes to look at based on a patient’s symptoms.
- Whole exome sequencing—This test looks very closely for small genetic differences in nearly all 20,000 genes. This test is typically recommended for people who have not received a diagnoses with more targeted testing.
What to expect from a genetic counseling appointment
Genetic counseling is usually scheduled directly before or after your visit with your neurologist. A genetic counseling appointment usually lasts between 30 minutes and an hour.
The genetic counselor will review your child’s personal and family health history. If genetic testing is recommended, your counselor will explain the risks, benefits, and limitations of the testing options.
If you choose to pursue testing, your counselor will discuss a plan for billing and payment, how you will receive results, and when you’ll need to visit the clinic again for a follow-up visit.
If your child already has a genetic diagnosis, your counselor will offer education, resources, and support depending on the needs of the family. The counselor can also help to explain how a genetic diagnosis may affect other family members, their testing options, and options for family planning.
Preparing for a genetic counseling appointment
Your family history can provide important information about your child’s health risks. To prepare for a genetic counseling appointment, it’s helpful to talk to your relatives about medical conditions that run in the family. Bring that information with you to your appointment.