The importance of Medical Genetics in medicine is ever-expanding. Over 6000 genetic disorders are known and that number keeps growing. A single-gene disorder affects almost 1 in 50 people and a chromosomal disorder affects 1 in 263 people. An individual may be affected by a genetic condition or at an increased risk to develop its symptoms.
The goal of our clinic is to identify and assess any underlying genetic conditions affecting the health conditions of you or members of your family. Your health may benefit from individualized surveillance, prevention, or treatment.
Our team offers clinical services using the most current testing and diagnostic tools for genetic disorders in adults and children.
Preparing for a genetics visit
- Be aware of the reason your doctor referred you to the genetics clinic.
- Explore your family history of similar symptoms, the diagnosis, and the age at the diagnosis. You may want to contact your family members and write down the information provided by them.
- If a relative has undergone genetic testing or has medical records relevant to your visit, obtain a copy of the documents, and fax it to our clinic before your visit, so the geneticist can be better prepared ahead of your visit.
- The first visit in the clinic may take up to 60 to 90 minutes.
- Bring the necessary documents to the appointment, such as a genetic test result with you.
- Arrive the clinic before your appointment time.
- Review of your personal and family medical history.
- Physical examination, if indicated.
- Explanation and discussion regarding the possible genetic conditions in the family and the patterns of inheritance.
- Discussion of genetic testing, including DNA testing, chromosome analysis, or other tests, if indicated.
- Interpretation of the genetic test results.
- Exploring the risk, surveillance, management and treatment options.
- Discuss information about disease-specific support groups and resources or consultation with other specialists as needed.
- Prescribing of additional testing or exam, if indicated.
- Referral to other specialists as needed.
- Plans to determine follow-up care.
You will be seen by a geneticist (a doctor with specialized training in genetics). As CMU Health is a teaching organization, we may also have medical students and residents in the clinic.
The knowledge of genetic medicine is rapidly evolving. To provide you with the most accurate and up-to-date information, your genetic specialists may take up to several hours before or after the visit to review the current medical literature, check genetic databases, and consult with colleagues across the country.
Examples of genetic conditions evaluated
Cancer genetics conditions
Hereditary cancer risks, such as:
- BRCA Breast Cancer.
- Ovarian Cancer.
- Lynch Syndrome.
- Colon Polyposis.
Complex hereditary tumor syndromes, such as:
- Tuberose Sclerosis.
- Cowden Syndrome.
- Li-Fraumeni Syndrome.
- Von Hippel-Lindau disease.
- Hereditary Paraganglioma-pheochromocytoma.
Genetic condition(s) affecting adults
- Familial Hypercholesterolemia
- Familial Hypertrophic Cardiomyopathy
- Familial Dilated Cardiomyopathy
- Familial Sudden Cardiac Arrest (Arrhythmia)
- Marfan Syndrome
- Familial Aortic Aneurysm and dissection
- Hereditary Hemorrhagic Telangiectasia
Genetic condition(s) affecting children
- Multiple Congenital birth defects
- Developmental disorders
- Chromosomal disorders
Genetic condition(s) affecting procreation
- Preconception genetic counseling for known genetic conditions in the family