The Adult Medical Genetics clinic began seeing patients in August 2002. The clinic occurs on Mondays at the University Hospital. The clinic is staffed by Matthew Taylor, MD, who has expertise in adult internal medicine and clinical geneticist. To make an appointment call 720-848-0782.
We see adults affected by or with a family history of the following conditions:
- Connective tissue disorders, including Marfan syndrome and Ehlers-Danlos syndrome.
- Hereditary neurological conditions, including Charcot-Marie-Tooth and Huntington disease.
- Muscular dystrophies, including Duchenne's muscular dystrophy.
- Hereditary mental retardation syndromes, such as Fragile X.
- Conditions involving unusual (dysmorphic) facial features and/or chromosome imbalances.
- Hereditary vision loss, including Retinitis Pigmentosa.
- Blood disorders, such as hemochromatosis.
- Storage disorders, including Fabry disease, Pompe disease and Gaucher disease.
To schedule an appointment for a genetic consultation, call the University Physicians Referral Service at 720-848-0782. You will be asked some questions about why you are coming to see us, and you may be asked questions about your own and your family history. This usually takes 15 to 20 minutes. Based on your answers, we may ask to see medical records to confirm a diagnosis before seeing you. We will mail you materials to get ready for your consultation. This will include a Family History Checklist.
How to Construct a Family Tree
We need as much information as possible about your family health history. A checklist about what to know about your family history is available. This means information about your parents, brothers, sisters, children, grandparents, aunts, uncles, great aunts, great uncles, nieces, nephews and cousins.
A complete family history helps pinpoint your risks and make a diagnosis. If you have gaps in what you know, please ask your relatives for more facts if you can before your appointment.
Gathering Medical Records
Records of your own and your family's medical history are valuable in determining your risk of inheriting a condition. If you need help getting these records, our team can help. In some cases, you may need a Release of Information request form signed before the records will be given to you.
If a relative is dead and there are no medical records, a death certificate may be helpful. You can to get death certificates online. Death certificates can be requested by the general public and do not require consent from the next-of-kin. Death certificates can often be ordered by mail, fax or the Internet for a small fee. You can try the Social Security Death index if you don't know your relative's date of birth or death or the county where he or she last lived.
When you come to your face-to-face meeting, you may meet with a genetic couselor. He or she may take your family history and construct your family tree and discuss the genetic risks uncovered in your personal and your family health histories. It will be helpful if you are able to collect information about your family history before the clinic visit.
Dr. Taylor will go over your medical history and may do a physical exam to check for signs or symptoms of a particular inherited disorder. He will also talk about how to best manage or prevent the disease you may be at risk for. He will go over how genetic test results might change his recommendations for treatment. We can also provide genetic counseling as needed.
If you decide to have genetic testing, you will be asked to give a blood sample (or possibly a skin biopsy sample for certain tests). Test results are usually ready in one to three months. In most cases, you will need to schedule a follow-up appointment to get your test results in person.
The entire process, from check in to check out, takes about two hours.
After your first visit a copy of the evaluation may be sent to your physician; you may receive a copy also at your request.
Genetic counseling covers:
- The challenges of having or being at risk for a genetic disorder.
- Medical information about a genetic risk or diagnosis.
- The role of heredity in developing a disease.
- How to deal with your genetic health risks.
- Many other genetic conditions not listed above.