Have you ever heard of a 'DNA test' or 'gene testing'? Maybe your doctor has told you about it, or you have seen it in a movie on TV. What does it actually do? It can provide valuable information not only about diseases in our bodies, but also about our genetics. Let's talk about it in a simple way that you can understand.
What exactly is a DNA test?
Simply put, a DNA test, or genetic test, looks for variations in your genes, chromosomes, and DNA. Think of these as the 'instructions' that control everything in our bodies. Not only do our height, eye color, and hair color depend on these genes, but they also determine our susceptibility to certain diseases.
This investigation can help us gain a greater understanding of several key points:
- Confirm whether or not a certain disease is present: Even if some symptoms are present, these tests help confirm the exact nature of the disease.
- Know your risk of developing a disease in the future: Some diseases, for example, some types of cancer, have a genetic influence on their development. So you can find out in advance if you are at risk.
- Learn about genetic conditions that you can pass on to your child: Even if you don't show symptoms of some genetic conditions, you may be a 'carrier' of the condition. This means that you can pass on the altered gene to your child.
If you are interested in genetic testing, it is best to talk to your doctor about it first. Then you can decide exactly whether you really need this test and, if so, what type to have.
What are the main types of DNA tests?
There are different types of genetic tests. Your doctor will recommend the test that is most suitable for you based on your family history and your symptoms. Let's take a look at the main types.
| Test type | What do you see in this? |
|---|---|
| Gene testing | This is done by looking for changes in one or more specific genes. For example, if someone in your family has a genetic disease, it can check whether you also have the gene for that disease. |
| Genomic testing | This is a more comprehensive test. Instead of just one or two genes, it looks for changes in a large number of genes in your DNA at once. It is used in complex disease conditions. |
| Chromosomal testing | Genes are located on chromosomes. This test doesn't look at genes, but at changes in the entire chromosome. It looks for things like whether there is an extra chromosome, a missing chromosome, or broken pieces. |
| Gene expression testing | Inside our body's cells, some genes are "active" and some are "inactive." This test looks at how active the genes are. In some diseases, such as cancer, genes are either overexpressed (overexpression) or underexpressed (underexpression). |
What are these genetic tests used for?
Genetic testing is a very valuable medical tool. Here are some of the situations in which it is used.
Prenatal testing for expectant mothers
During pregnancy, these tests can detect any changes in the genes or chromosomes of the unborn child. This can help determine the risk of the child developing a genetic disease in advance.
Diagnostic testing
If you have any symptoms, this test can help determine whether or not they are caused by a genetic condition.
Carrier screening
There are some genetic diseases, and even though you have the altered gene for that disease in your body, you will not show symptoms. You are called a "carrier." If both parents planning to have a child are carriers of the same disease, there is a 25% risk that the child will have that disease. So this test can tell you if you are a carrier.
Newborn screening
As soon as the baby is born, it is tested for certain genetic and other medical conditions. This allows treatment to begin as soon as possible if there is a disease.
Predictive and pre-symptomatic testing
These tests can show whether you have a higher genetic risk of developing a certain disease (e.g., certain types of cancer) in the future, even if you don't have any symptoms right now.
Pharmacogenomic testing
This is a wonderful thing. This test can tell you how certain medications will affect you, whether they will work for you, and what the safest dose is, based on your genetic makeup. This can help your doctor choose the treatment that is best for you.
What diseases can be detected by genetic tests?
It is important to remember that genetic tests cannot detect every disease. Also, a positive test result does not necessarily mean that you will develop that disease. However, they are very useful in identifying a number of diseases. Here are some examples:
- Down syndrome
- Cystic fibrosis
- Sickle cell disease
- Huntington's disease
- Some hereditary cancers, such as breast cancer and colon cancer
How is this test done?
It's a very simple process. Your doctor will take a sample of your blood, hair, skin, tissue, or amniotic fluid from a pregnant woman . The sample is then sent to a lab. There, experts will test your genes, chromosomes, or DNA for changes, and send the results back to your doctor.
Are there any risks in these tests?
Most DNA tests have very low physical risks. They are as simple as taking a small amount of blood. However, some tests, which involve taking fluid from the womb during pregnancy, carry a very small risk of infection and miscarriage.
However, the greater risk is psychological and financial .
- Psychological impact: If you get an unexpected result, you may experience feelings like anger, fear, sadness, and anxiety.
- Financial aspects: Genetic testing can be expensive, so it's a good idea to be aware of that before getting tested.
Also, remember that these tests may not be 100% accurate. Also, the results cannot always predict how severe the symptoms will be or when the disease will develop.
What do the results say?
Understanding the results of a genetic test can sometimes be complicated. Your doctor will compare the results with your medical history to accurately explain them. There are three main types of results.
| Result | Meaning |
| ------------------ | ----------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- |
| Positive | This means that the laboratory has found a genetic change that causes a disease. This can confirm your diagnosis, confirm that you are a carrier of the disease, or confirm that you are at increased risk of developing the disease. |
| Negative | This means that the genetic change that causes a disease was not found. This can rule out a diagnosis, confirm that you are not a carrier of the disease, or determine that you are not at increased risk. |
| Uncertain | This means that even if a genetic change has been found, there is not enough information to determine whether it is a disease-causing or a harmless normal change. This is because we all have small changes in our DNA that do not affect our health. |
Take-Home Message
- DNA or genetic testing is a testing method that looks for changes in our genes and provides valuable information about our health.
- These tests can confirm a disease, identify future risks, and provide information about genetic conditions that may be passed on to children.
- There are several types of genetic tests, and it is essential to seek medical advice to choose the type that is best for you.
- Understanding the results can be complicated, so whatever the result, be open with your doctor about it and your next steps.
- Be wary of direct-to-consumer kits sold online or through other means. Tests performed under the guidance of a doctor are more reliable.
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