Welcome to Medical Genetics Clinics

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, Children’s Hospital and Regional Medical Center (CHRMC), and the Seattle Cancer Care Alliance (SSCA), 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.  

UW Medical Center Medical Genetics Clinic
Medical Genetics and Regional Genetics Clinics
Biochemical Genetics Program

UW Medical Center Medical Genetics Clinic
Adults and families

Peter H. Byers, M.D., Director
Robin L. Bennett, M.S., C.G.C., Associate Director
Debra L. Olson, Program Assistant
Phone (206) 598-4030    Fax (206) 598-3269
Center on Human Development and Disability, Tuesdays
UW Medical Center, Thursdays

About 1300 patients are seen each year at the UWMC Medical Genetics Clinic, covering the full range of genetic disorders. The physicians (medical geneticists) and genetic counselors who staff the clinic have a range of expertise that covers the extent of the specialty and provide specific diagnoses and recommendations for care and follow-up of hundreds of rare genetic disorders, as well as the more common ones. Five specialty areas are emphasized:

Cancer.  There are many causes of cancer, and several genetic testing options are available. Those who may want to consult this clinic include persons with a personal or family history of cancers that may have an inherited component.  The clinic’s team of physicians and genetic counselors review a patient’s personal and family medical history, provide information, and help to make an informed choice about testing. The clinic also offers DNA banking, or storing of genetic material from a blood sample for future use by other relatives. Clinic staff sponsor a Genetics Resource Line (800-562-4363) for health professionals who have questions about inherited cancer and other genetic disorders. Staff members also provide educational lectures and programs to medical and lay groups.

Connective tissue disorders.  There are more than 200 different types of inherited connective tissue disorders, in which alterations in the molecules that make up skin, bone, tendons, ligaments, blood vessels and other supporting structures lead to an inherited condition.  These conditions include such disorders as Marfan syndrome, the several types of Ehlers-Danlos syndrome, the variety of conditions known as types of osteogenesis imperfecta, as well as skeletal dysplasias and chondrodystrophies.  These disorders are generally uncommon as individual entities but, in aggregate, may affect almost 1% of the population. Yet they remain relatively poorly understood and underrecognized outside the realm of the Medical Genetics specialty clinics.  The clinic’s team of physicians and genetic counselors review a patient’s personal and family medical history, come to a specific diagnosis when possible, provide information about the natural history of the disorder, help to make informed choices about testing, provide appropriate referral and follow-up, and introduce families to peer support groups at the local and national levels.

Inherited skin disorders.  There are more than 400 different types of inherited skin disorders in which alterations in the molecules that make up skin, hair, and nails lead to an inherited condition. They include forms of blistering skin conditions such as epidermolysis bullosa, scaling skin disorders, and disorders of pigment formation.  These conditions are generally uncommon as individual entities but, in aggregate, may affect almost 1% of the population. Yet they remain relatively poorly understood and underrecognized outside the realm of the Medical Genetics specialty clinics. The clinic’s team of physicians and genetic counselors review a patient’s personal and family medical history, come to a specific diagnosis when possible, provide information about the natural history of the disorder, help to make informed choices about testing, provide appropriate referral and follow-up, and introduce families to peer support groups at the local and national levels.

Neurogenetics.  There are more than 200 different types of inherited neurological disorders in which alterations in the molecules that make up the brain and peripheral nerves lead to an inherited condition. These include such disorders as Huntington disease, early-onset and familial forms of Alzheimer disease, inherited forms of ataxia, muscular dystrophies, and degenerative disorders of the brain and nerves.  These conditions are generally uncommon as individual entities but, in aggregate, may affect almost 1% of the population. Yet they remain relatively poorly understood and underrecognized outside the realm of the Medical Genetics specialty clinics. The clinic’s team of physicians and genetic counselors review a patient’s personal and family medical history, come to a specific diagnosis when possible, provide information about the natural history of the disorder, help to make informed choices about testing, provide appropriate referral and follow-up, and introduce families to peer support groups at the local and national levels

Turner syndrome.  Turner syndrome is one of the most common reasons for short stature and reproductive failure among girls and women and results from alterations in the number and structure of the X-chromosomes. Our clinic has an active population of more than 500 women and girls with this alteration in chromosome constitution and the expertise that goes with more than 20 years of follow-up and careful surveillance of this group. The clinic's team of physicians and genetic counselors review a patient's personal and family  medical history, come to a specific diagnosis when possible, provide information about the natural history of the disorder, help to make informed choices about testing, provide appropriate referral and follow-up, and introduce families to peer support groups at the local and national levels.

Attending Physicians

Thomas D. Bird, M.D.
Sub-specialty: Neurogenetics
Faculty Profile

Wylie Burke, M.D., Ph.D.
Sub-specialty: Cancer genetics
Faculty Profile
COS (Community of Science) biographical sketch

Peter H. Byers, M.D.
Sub-specialty: Inherited connective tissue disorders
UW Physicians profile
COS (Community of Science) biographical sketch

Robert M. Hershberg, M.D., Ph.D
Sub-specialties: Cancer genetics, immunology
Faculty profile

Marshall S. Horwitz, M.D., Ph.D.
Sub-specialties: Cancer genetics, genetics
Faculty profile
COS (Community of Science) biographical sketch

Gail Pairitz Jarvik, M.D., Ph.D.
Sub-specialties: Cancer genetics, genetics
Faculty profile
COS biographical sketch

Matthew Mealiffe, M.D.
Sub-specialties: Caner genetics, General genetics

Wendy Raskind, M.D.
Sub-specialties: General genetics and cancer genetics
Faculty profile
COS (Community of Science) biographical sketch

Virginia P. Sybert, M.D.
Sub-specialties: Dermatology genetics, Turner syndrome
Faculty profile
COS (Community of Science) biographical sketch

Genetic Counselors

Robin L. Bennett, M.S., C.G.C. biographical sketch

See Robin's appearance on NBC's Today Show during a segment featuring a family with the BRCA1 gene mutation.

Mercy Y. Laurino, M.S., C.G.C. biographical sketch

Corrie O. Smith, M.S., C.G.C. biographical sketch

Social Worker

Donna Ross, MSW, LICSW
Neurogenetics Division

Medical Genetics and Regional Genetics Clinics
Children's Hospital and Regional Medical Center (CHRMC)
Children and families, outreach services

Ian Glass, M.D., Director
Brigette Allensworth, Program Assistant
Phone (206) 987-2056   Fax (206) 987-2495
Children's Hospital and Regional Medical Center, Tuesdays

About 800 patients are seen each year at the CHRMC genetics program. The general genetics clinic is held weekly at CHRMC, and as inpatient consultations. The physicians (medical geneticists) and genetic counselors who staff the clinic have a wide range of expertise and provide specific diagnoses and recommendations for care and follow-up of hundreds of rare genetic disorders as well as the more common ones; a wide variety of patients and diagnoses is the rule. At this time the emphasis of the clinic is primarily diagnostic, but longitudinal care and follow-up issues are increasingly being addressed. The clinic at CHRMC specializes in children and genetic disorders that present primarily at birth or in childhood. However, as a regional service the clinic also regularly evaluates adults with genetic disorders and, when appropriate, evaluates adults at CHRMC, where it is the only service permitted to review adults. Additionally, physicians regularly consult for referred prenatal diagnosis cases from Swedish Medical Center and UWMC.

Aside from the general genetics clinic, multidisciplinary genetics clinics are held regularly, including cardiovascular genetics (cardiologist Mark Lewin), biochemical genetics (Michael Raff), neurofibromatosis, skeletal dysplasia (orthopedics, Greg Schmale), craniofacial genetics, limb deficiency clinic, gender assessment team, and neurogenetics at the Center on Human Development and Disability (CHDD). Consultation and input to the Communication Center (hearing disorders) and Muscular Dystrophy Clinic are also provided on a regular basis. Weekly consultation services are also provided to Swedish Medical Center for both prenatal diagnosis and neonatal referrals.

A large portion of this program's effort is devoted to delivering genetic services outside CHRMC. This includes 60 outreach clinics per year performed at different sites within Washington state (Wenatchee, Tacoma, Walla Walla, Bellingham, Yakima, Spokane) and 50 clinics per year in Alaska.

Attending Physicians

Phillip F. Chance, M.D.
Sub-specialty: Neurogenetics
Faculty profile
COS (Community of Science) biographical sketch

Ian A. Glass, M.D.
Sub-specialties: General genetics, neurogenetics, skeletal dysplasias, organization and delivery of genetic services   
COS (Community of Science) biographical sketch

Mark C. Hannibal, M.D., PhD.
Sub-specialties: Immunogenetics, dysmorphology, cardiovascular genetics, chromosomal basis of malformations
Faculty profile
COS (Community of Science) biographical sketch

Anne Hing, M.D.
Sub-specialties: General genetics, craniofacial disorders, limb deficiency disorders, neurofibromatosis

Roberta A. Pagon, M.D.
Sub-specialties: General genetics, dysmorphology, gender disorders, eye genetics
Faculty profile
COS (Community of Science) biographical sketch

Daniel G. Miller, M.D., Ph.D.
Sub-specialties: General genetics, gene therapy
Faculty profile

Melissa Parisi, M.D., Ph.D.
Sub-specialties: General genetics, neurogenetics, gender disorders
CHDD faculty profile

Michael Raff, M.D. 
Sub-specialty: General genetics, biochemical genetics, and connective tissue disorders

Genetic Counselors

Linda Ramsdell, M.S.

Darci Sternen, M.S.

Dana Knutzen, M.S.

Patricia Powers, M.S.

Karen Barnett, M.S.

 

Biochemical Genetics Program
Adults and children

C. Ronald Scott, M.D., Director
Cristine Trahms, M.S., RD, Director, PKU Clinic Program
Vicki Frasher, Program Coordinator
Phone: (206) 685-3015   Fax: (206) 685-1286
Center on Human Development and Disability, Tuesdays, Thursdays, every 3^rd 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 is necessary, both in person and by telephone. Most children have regular laboratory testing to monitor their management. The close connection of the clinic with the Biochemical Genetics Laboratory at Children’s Hospital and Regional Medical Center makes smooth coordination of care and rapid follow-up possible. Outreach clinics are also held in Spokane, WA, Idaho, and Alaska.

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 100 children each year to prevent adverse consequences of this disorder. Clinics are held monthly and have a group format. Patients 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 dietary health, but independent thinking and self-management skills facilitated by educational curricula in the clinic. 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 in the adult program. 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, Idaho, and Alaska.

The Hereditary Tyrosinemia Type I Follow-up Protocol is a phase IV clinical trial tracking the long-term outcome of children with tyrosinemia type I who are treated with nitisinone. Tyrosinemia type I is an inborn error of tyrosine metabolism that causes severe liver damage, liver failure, and death in early childhood if untreated. Those untreated children who survive infancy develop hepatocellular carcinoma in childhood. In 2002 the FDA approved nitisinone [2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione or NTBC] for the primary treatment of this disorder. As an IND holder, Dr. Ronald Scott (PI) and this clinic coordinate the long-term follow-up of 60 children in the US. The Tyrosinemia PAL is a resource of written material developed for families to help them in the management of their children with this rare disorder. The UW tyrosinemia program and all materials published in the PAL can be found at http://depts.washington.edu/tyros. 

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. The Adult PKU Program hosts annual support group activities. 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 patients with lysosomal diseases and their families. The program is dedicated to the management of these rare diseases and provides 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, and mucopolysaccaridosis type 1. There are FDA-approved enzyme replacement therapies for these three disorders, and the UW and CHRMC 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.

Attending Physicians

C. Ronald Scott, M.D.
Sub-specialty clinics: Biochemical genetics, PKU, LSD Program
Faculty profile
COS (Community of Science) profile

Genetic Counselors

Lisa Sniderman King, M.Sc., C.G.C
Sub-specialty clinics: Biochemical Genetics, PKU, Tyrosinemia Type I Program, Adult Metabolic Program, LSD Program 

Angela C. Fox, M.S., C.G.C.
Sub-specialty clinics: LSD Program, Biochemical Genetics

Nutritionists

Cristine L. Trahms, M.S., R.D.
Sub-specialty clinics: Biochemical Genetics, PKU, Adult Metabolic Program, LSD Program
http://depts.washington.edu/lend/Nutrition/trahms.html 

Janie Heffernan, M.S., R.D.
Sub-specialty clinics: PKU

Beth Ogata, M.S., R.D.
Sub-specialty clinics: Biochemical Genetics, PKU

Judy Brown, M.S., R.D.
Sub-specialty clinics: Adult PKU Program

Social Worker

Janet Garretson, MSW
Sub-specialty clinics: PKU, Adult PKU Program

©2003 Division of Medical Genetics, University of Washington.
All rights reserved.
Design by Jessie Good 
Last updated: June 1, 2007