Genetic Counseling

Genetic counselors are healthcare professionals with special education, training and experience in understanding how DNA, genes and chromosomes influence a person’s health. We help patients and their families understand how genetics may affect their chance of having or developing a disease.

Many of our patients are seeing healthcare providers in other Seattle Children’s specialty clinics, such as Clinical Genetics and Biochemical Genetics. We work with Seattle Children’s Fetal Care and Treatment Center to help families when a condition is discovered during pregnancy.  

Learn more about genetic testing and how genes affect your health (PDF).

Why choose Seattle Children’s for genetic counseling?

Our licensed genetic counselors offer information, guidance and support to patients and families who are at risk for or have been diagnosed with a genetic condition. Seattle Children’s has one of the largest pediatric Genetic Medicine programs in the country.

If your doctor recommends genetic testing to help diagnose your child’s condition, our genetic counselors will explain the test options and what to expect. We talk with you about the emotions you might feel when you get test results or a new genetic diagnosis. We guide you as you decide what options are best for your child and family.

If you choose to have genetic testing, our counselors:

• Help your family understand what the test results mean for your child and other family members
• Explain how genetic conditions are passed down (inherited)
• Talk to you about your child’s genetic condition and the medical treatments or services they may need
• Advise you on the chances of the condition happening in a future pregnancy
• Recommend if other family members should consider being tested
• Connect you with resources to help you manage your child’s genetic condition

When Malachi was diagnosed with a rare genetic disorder called CLN2, his Seattle Children’s team recommended genetic testing for his siblings. Learning his younger sister also had the disorder meant she got an earlier start on regular enzyme infusions to slow the spread of symptoms.

Read their story.

Among the nation’s top centers for rare diseases

Seattle Children’s is the only pediatric hospital in the Pacific Northwest named a Rare Disease Center of Excellence by the National Organization for Rare Disorders (NORD). At NORD Centers of Excellence, experienced teams of world-class doctors diagnose and treat a wide range of rare diseases. We are part of the Undiagnosed Diseases Network (UDN), funded by the National Institutes of Health. We partner with other UDN members to improve diagnosis and care for patients with hard-to-diagnose diseases.

Seattle Children’s has expertise in treating children with a wide range of genetic conditions. These include 22q11.2-related disorders, hearing loss, muscular dystrophy, Turner syndrome, heart defects, neurofibromatosis, tuberous sclerosis complex (TSC), dwarfism and skeletal dysplasia, differences in sex development, vascular anomalies, biochemical genetic disorders, neurodevelopmental disorders, epilepsy syndromes and more.

Research to gain insights and advance care

Genetics is one of the fastest-changing areas in medicine, as researchers continue to pinpoint the genes that cause a wide array of disorders. Seattle Children’s researchers work to identify genetic causes of disease and find new ways to test for them. Identifying the precise genetic cause of a disorder can open the door to more treatment options and help develop new ones. Our patients have access to clinical trials of promising new treatments.

Learn how our genetic epilepsy research helps us offer more treatment options and give families better information about their children’s seizures.

We invite our patients to take part in registries that collect medical information about children with genetic conditions. By combining information from many children with the same rare disease, we can look for patterns and gain insights for better diagnosis and treatment. 

Conditions We Discuss

Our genetic counselors work with families who have many types of genetic conditions. A few examples are highlighted below.

Genetic causes of neurodevelopmental differences

Neurodevelopmental differences relate to how the nervous system forms and grows. These include autism, epilepsy, developmental delay and intellectual disability. Babies, children and young adults with these differences may be referred for evaluation, including genetic counseling and testing. This can help your child’s team understand the cause of the developmental difference and guide your child’s care plan.

Experts in Seattle Children’s Clinical Genetics, Neurotherapeutics Clinic and Neurodevelopmental Program diagnose and care for babies, children and young adults with neurodevelopmental differences.

Genetic causes of birth defects

A birth defect is a difference in part of the body that is present at birth, such as a cleft palate. Babies and children with 1 or more birth defects may be referred for evaluation, including genetic counseling and testing. The assessment will help us understand the cause of the birth defect(s) and identify any related health problems or developmental differences.

We care for patients with birth defects in our Craniofacial Center, Clinical Genetics, Vascular Anomalies Program and Fetal Care and Treatment Center.

Inherited metabolic disorders

Babies and children with a known or suspected inherited metabolic disorder may be referred to the Biochemical Genetics Clinic. The clinic provides diagnosis, treatment, disease management, support and resources to improve your child’s quality of life. These disorders also are called biochemical genetic disorders or inborn errors of metabolism.

Genetic predisposition to cancers or blood disorders

If your child or other family members have had cancer or a blood disorder, your child may be referred to the Cancer and Blood Disorders Center (CBDC) for evaluation and genetic testing. Test results help us assess cancer risk, inform patient care and guide screening for your child and family members.

Scheduling an Appointment With Genetic Counseling

If you would like an appointment, ask your primary care provider or specialist to refer you to Seattle Children’s Genetic Counseling Clinic.

• If you have a referral, call 206-987-2056, option 1 to make an appointment. If your doctor has referred you to a different clinic for genetic counseling, call their number.
• If you have an appointment, read about how to prepare and what to expect.
• See genetic medicine resources, such as useful links, videos and recommended reading for you and your family.
• Learn more about how to schedule an appointment at Seattle Children’s.

Providers, see how to refer a patient to Clinical Genetics.

Contact Us

If you would like an appointment, ask your primary care provider or specialist to refer you to Seattle Children’s Genetic Counseling. If you have a referral, contact us at 206-987-2056, option 1 to make an appointment. If your doctor has referred you to a different clinic for genetic counseling, call their number.

Providers, see how to refer a patient to our Genetic Medicine program.

Participate in Research

We invite children and their families to participate in our studies. By taking part in a research study, your child will have access to some of the latest treatments and will receive support and care from our research team. Participation is voluntary. Your child will receive the same quality care whether or not you participate.