What Is Genetic Testing? Understanding the Ins and Outs

Genes are inherited from our parents, and the structure of these genes dictate who we are, including our features and characteristics. However, sometimes a mutation or change occurs that causes an abnormality, and genetic testing identifies that change.

What Is Genetic Testing All About?

Genetic tests use a sample of tissues or fluids from your body, such as blood, saliva, or amniotic fluid, to examine genes for any mutations. Genetic tests may help:

• Diagnose or identify a specific genetic or chromosomal condition.

• Determine the severity of a condition.

• Find a genetic disorder that may be passed on to your children.

• Find gene mutations that increase your likelihood of developing a disease.

• Screen fetuses and newborns for genetic disorders that can be treated early.

• Reduce the risk of having a child with a particular genetic or chromosomal disorder with preimplantation genetic diagnosis.

• Guide doctors in determining the best medicine.

Either a primary care doctor, a geneticist, specialist, or nurse practitioner can order a genetic test. The blood or tissue sample is collected and sent to a laboratory that specializes in genetic testing, where technicians evaluate the sample for specific changes in chromosomes, DNA, or proteins.

Generally, it takes several weeks for test results. The laboratory will send a report to your clinician or, if requested, directly to you.

It is critical that you understand what a particular genetic test means — the benefits, barriers, and potential consequences — both before and after testing. This process is called informed consent.

What Can Be Assessed With a Genetic Test?

Currently, there are more than 2,000 genetic tests, and many more in development. There are a number of reasons your doctor might recommend a genetic test: Maybe you have a genetic condition that runs in your family or a certain type of cancer that has occurred in close relatives, or you may be predisposed to a particular genetic condition because of your ethnic background.

In many ways, a genetic test can provide relief. It can give you an accurate diagnosis to help you make informed decisions about how to manage your health. It can also determine if you're at risk for developing certain conditions. For example, you can find out if your family history of cancer is due to an inherited gene mutation.

Since genetic conditions often run in families, knowing you have an increased risk for a particular condition may help you and your relatives take preventive measures, particularly when it comes to having children. And when you do have a child, newborn screening can identify conditions that may affect your child's long-term health, so treatment can be started as soon as possible.

Does Genetic Testing Make Sense for You?

Depending on your situation, genetic testing has both positives and negatives. It's helpful to learn that you or a family member has or is at risk for a condition, but it can also cause anxiety and fear. Is there a way to prevent or treat the condition? Will health insurance cover the cost? Genetic screening is a helpful tool, but you have to be ready for the results.

Remember, genetic tests can't tell you everything. They have limitations. A positive result may not mean you have the disease, and it can't predict the severity of the symptoms if you do. That's why it's important to speak to a genetic professional before you make any decisions. They can guide you, inform you about the pros and cons of certain tests, and help you cope with the emotional and ethical factors associated with genetic testing.