What Types of Genetic Testing are Most Crucial?
Many conditions and diseases have a genetic component, so it can be enormously helpful to have genetic testing performed in certain instances. It can help you determine whether you’re at risk for passing a particular disease along to future children, for example, or if you carry a gene that’s associated with cancer or another serious issue. In this blog, the board-certified radiologists at Neighborhood Radiology in the New York metro area explain what types of genetic testing are the most crucial:
What is genetic testing?
Genetic testing is a medical test that examines your DNA, which contains your unique genetic code, as well as chromosomes and protein. It looks for signs of changes – also called mutations – that may indicate you have a genetic disorder or may develop or pass on one of these disorders if you have a child. It may be performed using a sample of blood, hair, skin, amniotic fluid, or other type of tissue.
What information needs to be known before beginning testing?
You should review your family history with your doctor if you think you may be at risk for an inherited disease. You’ll give your doctor information about your current health and health history as well as the same information for your blood relatives.
Your doctor can discuss your specific risks for particular conditions or diseases and talk to you about whether genetic testing could be beneficial, as well as any limitations it may have.
What types of genetic testing are available?
The following are some of the most common types of genetic tests:
- Diagnostic testing: used to identify or rule out a specific condition if it’s suspected based on signs and symptoms. It’s not available for all genetic conditions but can be performed at any time – even before birth.
- Carrier testing: used to identify people who have one copy of a gene mutation that causes a genetic disorder when it’s present in two copies. It can be given to people with a family history of a genetic disorder or to those in an ethnic group that has a higher risk for the disorder. Parents can also be tested to determine if they have an increased risk for having a child in the future with a genetic condition.
- Presymptomatic and predictive testing: can be used to test people who have a family history of a genetic order but haven’t yet shown any signs or symptoms themselves. An example of this type of testing is looking for BRCA genes associated with breast cancer.
- Prenatal testing: can detect some inherited disorders and birth defects in an unborn baby
- Pharmacogenetics: used to determine what type of medication and dosage would be most effective for you if you already have a particular condition
Newborn screening: performed in all states to detect abnormalities that can show sickle cell disease and a set of other diseases
Preimplantation testing: used to test embryos in advance of in vitro fertilization
What type of results will you get?
Your doctor will discuss your results with you (positive, negative, or uncertain for a genetic mutation) and make sure you understand their significance. Together, you can decide what they mean for any future steps you may take. For example, some women who carry the BRCA gene may choose to take hormone therapy.
If you believe you may benefit from genetic testing or a doctor has suggested it, contact our board-certified radiologists at Neighborhood Radiology Services. We have many convenient locations throughout the New York Metropolitan Area. Fill out the form on this page to request an appointment or call 800-220-2220 to learn more.