Seattle Children’s has one of the largest pediatric genetics programs in the nation
At Seattle Children’s, a team of experts from many specialties will work together to identify any genetic condition your child may have and create a care plan for their best health. We are the only pediatric hospital in the Pacific Northwest named a Rare Disease Center of Excellence by the National Organization for Rare Disorders (NORD).
“Like other families with rare diseases, when we received the diagnosis, we had to piece a lot of things together — where to go for care, the latest research, mental health support and resources.”
— Sabrina Castillote, mother of Malachi and Maleea
After Malachi was diagnosed with CLN2, genetic testing showed his younger sister also had the rare genetic disorder. Maleea got an early start on treatment. Read their story.
Conditions We Diagnose and Treat
Changes in cause thousands of medical conditions. Seattle Children’s has the expertise to diagnose and treat nearly all the conditions that affect children. If a genetic condition is discovered during pregnancy, we work with Seattle Children’s Fetal Care and Treatment Center to help your family prepare. This is a sampling of our programs to diagnose and treat genetic conditions:
- Biochemical Genetics for inherited metabolic disorders, including Wilson disease and congenital disorders of glycosylation (CDG)
- Neurosciences for epilepsy syndromes, neurofibromatosis and neurotherapeutics
- Cardiac Genetics for Marfan syndrome and connective tissue disorders
- Clinical Genetics for arthrogryposis, chromosomal differences, growth disorders, birth defects, dysmorphic features, neurogenetics and vascular anomalies
- Prader Willi Syndrome (PWS) Clinic
- Differences in Sexual Development (DSD)
- Orthopedics for skeletal dysplasia and dwarfism
What’s special about Seattle Children’s Genetic Medicine?
We are the most well-known referral center for genetic disorders in the Pacific Northwest and one of the best-known in the United States. To make a precise genetic diagnosis, we use information from a child’s medical and family history, physical exams and state-of-the-art genetic testing. Our genetic counselors will explain the specific test options and what to expect.
Because so many conditions are linked to genetic changes, our Clinical Genetics team includes experts from many different specialties. If your child has an inherited metabolic disorder, our Biochemical Genetics clinic provides a long-term "medical home" for your child and family.
Genetic counseling for families
If you choose to have genetic testing, our genetic counselors help you understand what the test results mean for your child and other family members. To guide you as you decide the best options, our genetic counselors:
- Talk about the emotions you might feel when you get test results or a new genetic diagnosis
- Explain your child’s genetic condition
- Connect you with resources to help manage your child’s condition
- Advise you on the chances of the condition happening in a future pregnancy
- Recommend if other family members should consider being tested
Expertise in a broad range of genetic conditions
- Our Clinical Genetics team works with your family to diagnose your child’s genetic condition, create a plan to guide your child’s care and refer your child to the treatments and services they need.
- The clinic has experts from many specialties to diagnose the wide array of conditions caused by changes in genes. These include epilepsy, birth defects like cleft palate, neurological conditions, chromosomal conditions including trisomy 21 (Down syndrome), growth disorders, vascular anomalies, differences such as autism spectrum disorder and .
- 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.
Specialists in metabolic disorders
- Our multidisciplinary Biochemical Genetics team cares for babies, children and young adults with known or suspected inherited . We provide a "medical home" to care for your child over the long term. We help your family manage your child’s disease, with support and resources to improve their quality of life.
- Many children born with metabolic diseases need lifelong care to have the best possible quality of life. We give your child a full diagnostic evaluation and comprehensive care. This includes testing for newborns who have abnormal results from Washington state newborn screenings.
- We offer complete nutritional and genetic assessments, long-term medical management, including enzyme replacement therapy, and dietary treatments.
- We serve children, teens and young adults in the Washington, Wyoming, Alaska, Montana and Idaho (WWAMI) region.
- Our Biochemical Genetics Clinic includes centers of excellence for Wilson disease, congenital disorders of glycosylation (CDG) and lysosomal storage disease.
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 develop 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 of promising new treatments.
- We invite our patients to take part in 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.
“From the entire metabolic team at Seattle Children’s to the drug company that went after a drug for a rare condition like VLCAD, we’re so thankful.”
— Ty Iverson, Colton’s dad
Identifying Colton’s genetic condition before birth meant he could get treatment starting the day he was born.
Your Genetic Medicine Team
Michael J Bamshad, MD
Genetic Medicine
Division Head
Katrina M. Dipple, MD, PhD
Clinical Genetics
Medical Director
Christina T Lam, MD
Biochemical Genetics
Medical Director
Abbey Scott, MS, CGC
Genetic Counseling
Interim Supervisor
Jenny Thies, MS, CGC
Genetic Counseling
Interim Supervisor
Children with genetic conditions often have complex care needs. We coordinate your child’s care, with referrals to medical specialists across Seattle Children’s. Meet our full team.
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Paying for Care
Learn about paying for care at Seattle Children’s, including insurance coverage, billing and financial assistance.