Medical Genetics at the University of Washington is a tertiary specialty that provides clinical services to the general
public as well as training. The clinics, housed at UW Medical Center, Seattle Children's Hospital (SCH) and Regional Medical Center
(CHRMC), and the Seattle Cancer Care Alliance (SCCA), are a unique resource in the WWAMI region for evaluation and
diagnosis of people who have or are at risk for genetic diseases, and for long-term planning of follow-up and treatment
in collaboration with their physicians. UW physicians, medical geneticists, and board-certified genetic counselors in the
clinics work with individuals and their families to inform, diagnose, counsel, and refer for appropriate management. Many
of these physicians are nationally and internationally recognized experts in their fields and often included among the
"Best Doctors in America" compilations.
Please contact the clinics for information and appointments.
C. Ronald Scott, M.D., Director
Cristine Trahms, M.S., RD, Director, PKU Clinic Program
Vicki Frasher, Program Coordinator
Phone: (206) 598-1800
Fax: (206) 598-1915
Center on Human Development and Disability, Tuesdays, Thursdays, every 3rd Wednesday
The UW Biochemical Genetics Program follows approximately 500 patients and is attended by geneticists, genetic counselors, nutritionists and a social worker who have significant expertise in this specialized area of genetics. Inborn errors of metabolism are inherited disorders involving the production or breakdown of proteins, fats, or carbohydrates, which may be dietary in origin, or are complex molecules that are not influenced by diet. The program is divided into sub-specialty clinics, outlined below.
The Biochemical Genetics Clinic provides diagnosis, genetic counseling, and long-term management of children with inborn errors of metabolism. Clinics are held weekly and emphasize a team approach to care. Most patients will meet with the physician, nutritionist and genetic counselor at every visit. Examples of typical disorders managed in this clinic are disorders of amino acid metabolism such as maple syrup urine disease and tyrosinemia type I; organic acid metabolism such as methylmalonic aciduria, propionic aciduria, and isovaleric acidemia; fatty acid oxidation disorders such as medium-chain-acyl-Co-A dehydrogenase deficiency, urea cycle disorders such as ornithine transcarbamylase deficiency; and disorders of carbohydrate metabolism such as galactosemia, the glycogen storage diseases and hereditary fructose intolerance. Management of these disorders generally requires precise manipulation of diet using specialized medical formulas and foods, along with medications. Regular follow-up of these children and adults is necessary, both in person and by telephone. Most individuals have regular laboratory testing to monitor their management. The close connection of the clinic with the Biochemical Genetics Laboratory at Seattle Children's Hospital makes smooth coordination of care and rapid follow-up possible. Outreach clinics are also held in Spokane, WA.
The Phenylketonuria (PKU) Clinic provides diagnosis, assessment, genetic counseling and, consultation for ongoing dietary management and health supervision, as well as evaluation of treatment outcomes to all children with PKU and their families. Long-term interdisciplinary planning and follow-up services are provided to more than 300 individuals each year to prevent adverse consequences of this disorder. Clinics are held monthly and have a group format. Individual's with PKU are organized into sub-clinics by age, and by virtue of this clinic's group format, parents and children develop a strong support network. Focus is not only on medical and nutritional management of PKU, but independent thinking and self-management skills facilitated by educational curricula in the clinic. Regualr psychometric testing is included as part of the treatment protocol. As the children near adulthood they are enrolled in the clinic's Adolescent Transition Curriculum, designed to prepare them for PKU management and life management as adults. More information about the PKU clinic and educational materials, including the clinic's video 'Really Living with PKU,' can be found at http://depts.washington.edu/pku. Outreach clinics are also held in Spokane, WA.
The UW Adult Metabolic Clinic provides consultation, management guidance, and genetic counseling to adults with phenylketonuria and other metabolic disorders in the state of Washington. It also provides reproductive guidance to young women with PKU to help them make choices about family planning and to guide management of diet during pregnancy for those who choose this option. Information about this clinic, including the clinic's video 'Maternal PKU, Choices You Can Live With,' can be found at http://depts.washington.edu/pku and http://depts.washington.edu/transmet
The UW-CHRMC Lysosomal Disease (LSD) Program provides multidisciplinary care including consultation, examination, testing, diagnosis, treatment, and genetic counseling for over 150 patients with lysosomal storage diseases and their families. The program is dedicated to the management of these rare diseases and provides comprehensive care by UWMC and CHRMC specialists in many areas of medicine, coordinated by the genetics team. The clinic team has experience in virtually all LSDs but has particular expertise in Gaucher disease, Fabry disease, Pompe disease and mucopolysaccaridosis type 1. There are FDA-approved enzyme replacement therapies as well as oral substrate reduction therapies for these disorders, and the UW and SCH are major treatment centers for our population. Our group with also work with local hospitals to facilitate transition of treatment to centers closer to each patient's home. At UWMC, clinical trials have been conducted, and some are still ongoing for these disorders. Other activities coordinated by this program include participation in disease-specific patient registries to help delineate the natural history of these rare disorders, both with and without therapies. Patient education and support meetings are held yearly, providing patients and their families an opportunity to mingle with other families and hear about recent advances in the field.