Genetic Medicine Clinics




In 2009, the UWMC Genetic Medicine Clinic celebrated 50 years of care for people with genetic conditions and their families. The Clinic offers the most comprehensive genetic medicine services in an ambulatory setting in the WWAMI region. The clinic has grown from serving less than 300 patients in the 1980s to close to 2,000 annually. Genetic diagnoses are no longer made only in the relation to rare inherited disorders; a genetic basis for many common diseases such as cancer, heart disease, stroke, aneurysms and dementia are now known.

The UWMC Genetic Medicine Clinic offers consultation with board-certified Genetic Counselors and physicians who are Clinical Geneticists with advanced expertise in many areas of Adult genetics and the genetics of common diseases including specialties in cancer genetics, neurogenetics, connective tissue disorders, dermatologic genetics, Turner syndrome, cardiovascular genetics, and autism genetics, and is home to a Huntington Disease Center of Excellence. The Clinic offers an interdisciplinary approach to the diagnosis, treatment and management of patients and their families with known or suspected genetic conditions. We see patients of all ages from infancy through adulthood. We provide risk assessment, genetic counseling and testing, and management plans for family members who have been informed that a relative has been diagnosed with a genetic condition.

While a genetic consultation often brings new knowledge to the patient and family, it often arouses with the person old, subjective and irrational knowledge of personal griefs, angers, and confusion about the connections between family, health and illness.1 In essence a whole family becomes the patient. As Robin Bennett, co-director of the clinic and a genetic counselor with 25 years experience notes, “One of the most satisfying aspects of working here is to be able to provide continuity of care to multiple generations of a family over many years.”


UWMC Genetic Medicine Clinics Mission:

Patient Care: Our mission is to translate the discoveries from disease gene identification and the Human Genome Project to protect the health of our patients and their families. We provide our patients with safe, appropriate, efficacious, cost-effective and ethical care. We explain complex genetic diseases and concepts in ways that are meaningful and clear to the patient. We carefully consider family history of illness and the implications of a patient’s health or testing on the entire family.

We are a medical home base for patients with genetic disorders affecting multiple organ system such as: neurofibromatosis, tuberous sclerosis, rare inherited skin disorders, von Hippel Lindau, Turner syndrome, Marfan syndrome, familial aneurysms, and osteogenesis imperfecta.

Education: Genetic Medicine continues to grow in importance. We work with specialists in many fields of medicine to educate them in the Genetic approach to evaluation of patients. Doctors in training from Dermatology, Neurology, Internal Medicine, Pediatrics, Molecular Medicine, and Obstetrics-Gynecology train in our clinic to learn to recognize, diagnose and care for individuals with genetic disorders. We are recognized as the pre-eminent site of practice for Genetic Medicine in the region, and one of the best sites nationwide, due to our large and diverse staff, many of whom research the causes and treatment of genetic disease, and have extensive experience in both common and rare genetic diseases.





UW Medical Center Genetic Medicine Clinic

Adults and Families

Fuki Hisama, M.D., Medical Director
Robin L. Bennett, M.S., L.G.C., Co-Director
Debra L. Olson, Program Support Supervisor

Phone (206) 598-4030
Fax (206) 598-3269
Center on Human Development and Disability, Tuesdays & Thursdays

About 1900 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 for hundreds of rare genetic disorders, as well as the more common ones. Seven specialty areas are emphasized:


Autism.

Autism is a clinical diagnosis, and has many potential causes. Approximately 15%-20% of patients have an identifiable genetic cause, and for those families, it answers the question of “why” the child has autism. Indications for genetic evaluation for autism include: patients with a family history of other affected members, patients with distinctive features (look different from their siblings), or other medical problems in addition to autism, patients with an outside abnormal or difficult to interpret genetic test result.

An appointment in the CHDD Autism Genetics Clinic is a 60 min to 90 min outpatient clinic visit for a new patient with a physician and genetic counselor. This is a clinical evaluation focused on known genetic and metabolic conditions associated with autism. A three-to-four generation family pedigree is taken. A complete medical history of the child is taken, and a physical examination is performed. Copies of any prior laboratory results, (especially genetic or metabolic test results, such as a chromosome study report, or Fragile X test report, blood amino acids or urine organic acids) as well as any neuroimaging studies should be obtained and brought to the visit where they will be reviewed. Then we discuss our assessment, and recommend any further genetic tests, which are typically done on blood or urine. Results are discussed with the family at a shorter follow up visit or by a telephone appointment and a summary is sent to the child’s primary doctors and other providers as requested by the family.

Cancer.

Cancer is a common condition, and the vast majority of cancers are sporadic, meaning not genetic. Certain types of cancer, particularly at younger ages, are more likely to have a genetic basis, and therefore, genetic counseling is recommended. For patients with onset of breast, or colon cancer prior to age 50, or for women with ovarian cancer, as well as patients with a strong family history of cancer, genetic evaluation can be help in identifying a cause, and clarifying risk to family members. 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. Staff members also provide educational lectures and programs to medical and lay groups.

Cardiovascular Genetics.

The Cardiovascular Genetics Clinic was launched in 2012. This is an interdisciplinary clinic in which patients are seen on the same day both by a physician specializing in cardiology (Dr. David Owens) and by a physician specializing in genetics (Dr. Fuki M. Hisama). Certain heart conditions such as cardiomyopathy, and some cardiac arrhythmias have a genetic basis. We are currently seeing patients with hypertrophic cardiomyopathy, a heart condition characterized by thickening of the heart muscle, which has a frequency of 1 in 500 persons, and which often has an identifiable genetic cause. Information from genetic testing can assist in the diagnosis for the patient, and also provide information for family members about their risk for cardiomyopathy.

The Cardiovascular Genetics Clinic takes place twice a month in the Regional Heart Center at UW Medical Center.

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, 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.

Neurogenetics Clinics
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.






Regional Genetics Clinics



Seattle Children's Hospital (SCH)


Biochemical Genetics Program


Seattle Children's Biochemical Genetics



Information for Genetic Medicine Clinic Observers




Administration


Fuki Hisama, M.D.
Medical Director
Faculty Profile

Robin L. Bennett, M.S., L.G.C.
Co-Director
Biographical Sketch


Attending Physicians


Thomas D. Bird, M.D.
Neurogenetics
Faculty Profile

Peter H. Byers, M.D.
Inherited Connective Tissue Disorders
Faculty profile

Carlos Gallego, M.D.
General Genetics, Cancer Genetics, Cardiac Genetics

Robert M. Hershberg, M.D., Ph.D.
Cancer Genetics, Immunology
Faculty profile

Marshall S. Horwitz, M.D., Ph.D.
Cancer Genetics, Genetics
Faculty profile

Gail Pairitz Jarvik, M.D., Ph.D.
Cancer Genetics, Genetics
Faculty profile

Suman Jayadev, M.D.
Neurogenetics

Mitzi Murray, M.D.
Inherited Connective Tissue Disorders

Wendy Raskind, M.D.
General Genetics and Cancer Genetics
Faculty profile

Virginia P. Sybert, M.D.
Dermatology Genetics, Turner Syndrome
Faculty profile


Genetic Counselors


Q&A with Robin Bennett

Robin L. Bennett, MS, LGC
Biographical Sketch

Laura Amendola, MS, LGC
Biographical Sketch

Sam Bailey, MS, LGC
Biographical Sketch

Heidi K. Holmes, MS, LGC
Biographical Sketch

Emily Malouf, MGC, LGC
Biographical Sketch

Lorraine V. Naylor, MS, LGC
Biographical Sketch

Corrie O. Smith, MS, LGC
Biographical Sketch


Nurse


Brenda Vicars, RN
Neurogenetics Division
VM: (206) 598-8753