When it comes to health news, there are certain topics that are infinitely better well-known than others. Every fall, people get ready for flu season by vaccinating. When someone gets a cold, they know rest, hydration, and increasing their intake of vitamin C will help them return to health as fast as possible. But then there are other topics that generate a lot of questions and often lead to confusion. Such is the case with genetic testing. What, exactly, is it? Why would it be necessary? And, what types of genetic tests are out there?
What is genetic testing?
Genetic testing looks for changes and/or mutations in a person’s DNA. While it is helpful to diagnose illnesses, it’s important to note that a positive result doesn’t necessarily mean that you will develop a disease. It means that you are predisposed to getting it, and — in some circumstances — you may be able to avoid getting the illness by implementing certain lifestyle changes, such as healthy eating and consistent, regular exercise.
Why get genetic testing?
Genetic testing can be ordered by a primary care physician, medical specialist, or nurse practitioner. It is useful for several reasons. The most common ones include the following:
- To learn about whether you’re predisposed to a health condition
- To diagnose an ailment if you’ve been experiencing symptoms of a malady
- To predict the likelihood that future offspring would have a genetic condition
- To design a medical treatment and determine which medications you can take
- To screen newborns — which is required of all babies born in the United State
- To screen embryos prior to implantation during in vitro fertilization
Types of Genetic Testing
The first thing to know is that there isn’t one single genetic testing that can screen for all existing medical conditions. Which type of testing is best for you will be determined by your doctor once they take into account your medical history, your family’s medical history, and any symptoms you may be experiencing. Common tests could include:
1. Single Gene Testing
Also known as a molecular test, this type of testing looks for mutations in only one gene. Single gene testing is conducted when a doctor has suspicions that you have a specific medical condition — especially if such condition runs in your family.
2. Panel Testing
This type of testing is done on several genes at the same time. They are organized under different categories for conditions that may be associated together — such as mutations that may lead to cancer.
3. Genomic Testing
Genomic testing (also known as large-scale genetic testing) is performed in individuals with a complicated medical history. This type of testing is useful to identify DNA variants that may be aiding in the growth of cancerous tumors — which is useful for oncologists to design treatments that specifically target such abnormalities.
What to Expect From Genetic Testing
Prior to undergoing genetic testing, a person must give informed consent. This process involves discussing with a healthcare professional the following information:
- A description of the test and why it’s being conducted
- What to expect from the test — specifically, how the sample will be carried out
- What the results mean, and what to do if they are inconclusive
- All risks associated with the testing — whether physical or emotional
- When the results will be provided
- What will happen to the sample once the testing has been completed
Once you are fully informed of what the test involves, you sign an informed consent form. However, this is just to keep a record that the discussion took place. If you later change your mind about undergoing testing, you may do so.
Each genetic testing is different from other types of testing. Some are as simple as running a cotton swab on the inside of your cheek to collect cells. Others require blood samples. For genomic testing, it may be necessary to do a biopsy of a growth/tumor. If the testing is done to screen potential issues of a baby during pregnancy, your medical provider will take a sample from the amniotic fluid or from the placenta. If genetic testing is done on a newborn, a healthcare professional will take a sample of their blood by pricking their foot.
Once a sample has been taken, it’s sent to a laboratory for technicians to study it while looking for changes in the person’s DNA. The lab will then send the results in writing to your healthcare professional.
What to Know About Genetic Testing Results
When you undergo genetic testing, results could turn out to be positive, negative, or inconclusive. Each of these results can mean different things depending on what you’re looking for.
Positive Genetic Testing Results
A positive result confirms a DNA abnormality or variation. That being said, the meaning of such a result will depend on the reason for testing. For example, if you were tested to diagnose a condition, your healthcare professionals will then be able to design a treatment plan. If the testing was done to determine whether you’re at risk for certain diseases, your healthcare team can help you come up with prevention plans, such as modifying your diet, quitting smoking, or determining if you need regular screening for early detection if you do develop a condition.
Negative Genetic Testing Results
A negative result means that a mutation was not detected on the specific gene being tested. It is possible to have an illness not tested by a specific genetic testing. It’s also possible to develop a condition — such as certain types of cancer — even if you don’t have a history of genetic abnormalities.
Inconclusive Genetic Testing Results
Some people have harmless variations in their DNA. These may be picked up by genetic testing, but they won’t necessarily affect your health. Other times it may be difficult to distinguish between a harmless variation and one that could result in disease. When this occurs, your healthcare provider may recommend follow-up testing.
If You Need Genetic Testing, Nurse Practitioners of Florida Can Help
At Nurse Practitioners of Florida, we have a dedicated team of certified nurse practitioners who have an unwavering commitment to providing you with care and compassion. When you call any of our locations, you will be greeted by a live person who’s ready to offer acute medical care as well as preventive measures — including genetic testing. And, above everything else, you will be treated like family.