What is genetic testing?
Genetic testing is used to identify changes, such as a mutation, in a person’s genes, or extra genetic material in chromosomes that can lead to cancer, birth defects in a child or other health conditions. The results can help you learn whether you’re at risk of developing or passing on a genetic condition or disease, such as cancer, cystic fibrosis or Marfan syndrome.
Genetic testing is voluntary. It has benefits and limitations, so the decision to go through testing is personal. A genetic counselor can provide information and help you understand the emotional and social aspects of testing.
What conditions can be detected through genetic testing?
It's important to remember that genetic testing can identify some conditions, but not all of them. A positive result doesn’t always mean you will develop a condition. However, genetic testing can help confirm or rule out a variety of diseases and conditions, including:
- Down syndrome
- Huntington's disease
- Cystic fibrosis
- Sickle cell disease
- Phenylketonuria
- Colon cancer
- Breast cancer
How to prepare for genetic testing
Before you get genetic testing, learn as much as possible about the process, potential results and your family’s medical history. Talk with your doctor about the risks and benefits of genetic testing and plan on getting genetic counseling so you know what to expect at every step.
The role of a genetic counselor
A genetic counselor can tell you about the risks and benefits of each test, what the results indicate and what your options are. Your healthcare provider can refer you to a genetic counselor in your area.
How is genetic testing done?
Before you have a genetic test, it’s important to understand how the test works, what it can and can’t tell you and what the results might mean. This process is called informed consent, where you are given information about the test and asked for permission to proceed.
If you decide to have genetic testing, your healthcare provider will help arrange the test, often during a genetic consultation. The test is typically done using a sample of blood, hair, skin, amniotic fluid (during pregnancy) or other tissue. For instance, a buccal smear uses a cotton swab to collect cells from the inside of your cheek. These samples are sent to a lab where technicians look for specific changes in DNA, chromosomes or proteins, depending on the suspected condition.
Newborn screening tests are done with a small blood sample taken from your baby’s heel. You’ll usually only receive the results if they are positive. If the test result is positive, additional testing is needed to find out if your baby has a genetic disorder.
Your doctor will look at the results, determine what they mean and share your results with you. Be sure to talk to your doctor and genetic counselor and ask questions about what the results mean and what steps you should take after receiving the results.
For example, you may need earlier, more frequent or different types of cancer screening. Or you may need to meet with a maternal-fetal medicine specialist or neonatologist to discuss care options for a congenital difference in your new baby.
Get support from a genetic counselor
Genetics can be complex, but navigating the process doesn’t have to be overwhelming. Our genetic counselors collaborate with you and your family to help you understand your genetic risks and testing options. You can meet with a counselor before testing to understand your options or afterward to review your results. Start your personalized healthcare journey by talking to one of our Baylor Scott & White genetic counselors.
Find a genetic testing location near you
We help you get care at a location that fits your needs. We offer several locations for your care, including genetic testing in North and Central Texas.
