Why consider genetic testing?
You may have a family history of a genetic condition, such as certain cancers. Or maybe you have a genetic predisposition for high blood pressure or high cholesterol, both of which could increase your chances of experiencing a stroke or developing heart disease.
Genetic tests look for mutations in your DNA, or markers, that signify specific genetic conditions that parents can sometimes pass to their children, making them hereditary. Armed with this information, you can make preventive health decisions now that can make a real difference down the road.
According to the Centers for Disease Control & Prevention, there are several kinds of genetic tests. But no single test can detect all genetic conditions. Typically, someone would have a blood draw or provide a spit sample, depending on the genetic test.
The CDC details the kinds of genetic tests available as follows:
- Single-gene tests. These look for changes in only one gene. Your doctor may recommend a single gene test if they believe your symptoms match those of a specific health condition, such as cystic fibrosis. These tests are also used to confirm whether you have a known family mutation.
- Panel tests. These are designed to group genes in categories based on medical conditions. These are particularly useful to group genes associated with developing certain cancers, such as colon, ovarian or breast cancers.
- Large-scale genetic tests. Also called genomic tests, these tests sequence either exomes or genomes. Exome sequencing either looks at all the genes in your DNA or just the genes related to a medical condition. Genome sequencing looks at all of your DNA, not just the genes.
Your test results may come back positive, negative or uncertain.
A positive result confirms that a genetic change was detected that is known to cause disease. It doesn’t mean that it will cause the disease, but knowing this is important for your course of preventive action.
A negative result did not detect any genetic mutations or variants. A negative test result is considered “true” when there is known genetic change in your family, but your test confirms you didn’t inherit the change.
An uncertain result means that information is lacking about a genetic change and its meaning. More testing may be needed as a result.
Talk to your primary care provider about genetic testing, especially if you have a family history of certain hereditary diseases, or if you have symptoms. These tests may be the next best step on your healthcare path.