What Is Genetic Testing?
Genetic testing involves examining your DNA — the chemical database that carries instructions for your body's functions. Genetic testing can reveal changes (mutations) in your genes that may cause illness or disease.
Although genetic testing can provide important information for diagnosing, treating and preventing illness, there are limitations. For example, if you're a healthy person, a positive result from genetic testing doesn't always mean you will develop a disease. On the other hand, in some situations, a negative result doesn't guarantee that you won't have a certain disorder.
Talking to your doctor, a medical geneticist or a genetic counselor about what you will do with the results is an important step in the process of genetic testing.
What genetic testing is available at Mayo Clinic Health System in Eau Claire?
Genetic testing is available for conditions in these specialties, as well as medications:
- Cancer or oncology
A cancer syndrome is a genetic disorder in which inherited genetic mutations in one or more genes puts the person at higher risk for developing cancer during their lifetime. Different hereditary cancer syndromes can be associated with different cancers and having a hereditary cancer syndrome does not necessarily guarantee someone will develop cancer in their lifetime. There are known syndromes associated with female and male breast cancer, ovarian cancer, uterine cancer, pancreatic cancer, prostate cancer, melanoma, colorectal cancer, colorectal polyps, gastric cancer, renal cancer, thyroid cancer, sarcoma, cancer of the brain and nervous system, and others.
Many cardiac conditions can be found to have a genetic component to them. These genetic components, also called inherited genetic mutations, can predispose an individual to developing a cardiac condition. Cardiomyopathy, high cholesterol/coronary artery disease, aortic aneurysm and/or dissection, and arrhythmia all can have genetic risk factors associated with the condition.
Some conditions that affect the brain, nerves and muscles may run in families. Neurological conditions that are hereditary include forms of muscular dystrophy, movement disorders and dementia. If you have a specific neurological condition in your family, you may benefit from meeting with a genetic counselor to discuss your risk of developing this condition and what testing options are available for you.
Genetic testing is available to those who are currently pregnant or planning a pregnancy:
- Family planning
Knowing your genetic risk can help determine risk for your future children to have the same condition. Genetic testing can be performed on a patient and their partner prior to or during pregnancy to see if there are hidden inherited conditions that run in their family and could be passed onto their children, such as Cystic Fibrosis and Spinal Muscular Atrophy.
- Prenatal or pregnant
Genetic testing can also be performed during pregnancy to screen for common conditions that occur randomly and are not passed on in families such as Down syndrome. Many individuals utilize prenatal genetic testing to determine risk for these genetic conditions and prepare medically and emotionally to have a child with a genetic condition. Not all prenatal testing contributes physical risk to an individual or their pregnancy.
- Family planning
- Medications and pharmacogenomics (PGx)
This is the right drug at the right dose based on your genes. Your genes may affect your body's response to, and interaction with, some medications. PGx testing is a type of genetic test and may help guide your current or future medication use. Your primary care provider may order this test to avoid or prevent serious side effects related to certain medications, to adjust the dose of a current medication or recommend a different medication, or to identify a medication or dose of a medication, most likely to work for you before you take it. Note that PGx testing is not addressed by genetic counseling.