Medical Genetics Clinic Specialty Services

About 1,300 patients are seen each year at the 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:

1. Cancer.  There are many causes of cancer, and several genetic testing options are available. Those who may want to consult this clinic include people 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.
   
   

   More information is available on the Cancer Genetics Clinic Web site.

2.  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 percent 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.

3. 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 percent 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.

4. 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 percent 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.

5. 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.