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Adult Genetic Testing & Genetic Counseling at University of Colorado Hospital

Why Choose Adult Genetic Testing & Counseling at University of Colorado Hospital?

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The Adult Medical Genetics Clinic is currently the only general genetics clinic in Colorado staffed by a physician with dual training in internal (adult) medicine and medical genetics. 

Genetics is a rapidly evolving field, and one still unfamiliar to many generalists. A prime goal of our clinic is to work with patients and their primary care physicians to diagnose and manage genetic conditions.

What is Adult Genetic Testing & Counseling?

Recent advances in understanding of human heredity and our own genetic makeup contained in our DNA has greatly improved our knowledge of genetic conditions. 

The Adult Medical Genetic Clinic specializes in evaluating known genetic conditions, where the disease in question is clearly understood to be an inherited disorder. 

We also will evaluate other conditions where a genetic component is suspected, even if it has not been proven or is only suggested based on family history. 

Go to the Adult Genetics Clinic page.

Genetic Conditions We Evaluate

Genetic conditions we routinely evaluate include (incomplete list):

  • Arrhythmias
  • Cardiomyopathies
  • Congenital abnormalities (birth defects)
  • Ehlers Danlos syndrome
  • Fabry disease
  • Gaucher disease
  • Huntington's disease
  • Marfan syndrome
  • Mental retardation
  • Muscular dystrophies
  • Neurofibromatosis
  • Pompe disease
  • Thrombosis
  • Tuberous sclerosis

We also evaluate healthy individuals who are concerned about their risk (or their childrens’ risk) of a genetic condition that is present in another family member.

Tests & Treatments

History and Physical Examination

The Genetics consultation will include review of your personal and family medical histories by the genetic counselor and a physical exam by Dr. Matthew Taylor.  It is helpful if you prepare in advance of the visit to discuss your family history (i.e. speak with your relatives, collect medical records from relatives, or even draw your own family history.) 

 

At the end of the visit, we will share our impression with you and discuss any additional recommendations for testing and/or evaluation. Both you and your referring physician will receive a summary letter 2 to 4 weeks following the visit.

 

Genetic Testing

Genetic testing is indicated in some of our patients.  When recommended by the geneticist we will determine which tests are needed and will discuss which are likely to be covered under your insurance plan. We frequently will approach your insurance plan to assess predetermination of specific genetic tests before we collect your blood sample.

 

Treatment of Lysosomal Storage Disorders

We provide management and coordination of enzyme replacement therapies for lysosomal storage disorders including Fabry, Gaucher, and Pompe diseases.

Adult Genetics Research

Our areas of active research are mostly focused on adults and include: hereditary cardiomyopathies, lysosomal storage disorders, polycystic kidney disease, chronic obstructive pulmonary disease, pulmonary hypertension, pharmacogenetics (how genetics influences response to medications), adult mental retardation, and rare genetic disorders.

 

Adult Genetics Research Trials

Currently we have research trials and registries for lysosomal storage disorders. This work is to define the natural history of various lysosomal storage disorders.  This study is sponsored by Genzyme Therapeutics. 

 

A study focused on the genetic basis of adult mental retardation began in August 2007. This work is recruiting patients and families where at least one individual is affected by mental retardation. This study is funded by the March of Dimes.

 

Additional Resources

National Society of Genetic Counselors

Surgeon General’s Family Health Portrait (draw your own family history)

Genetics Education Center

National Organization of Rare Diseases