What do genes have to do with DNA testing? As it turns out, quite a bit. Both genetics and DNA are essential components of our identity as humans. Each individual has unique genetic properties that make them who they are, and that’s also why every person has their own unique set of DNA. In this article, we will explore the depths of these scientific concepts and explain why they are both so important when it comes to your personal identity. 

What are genes?

Genes are the foundation of heredity and your genetic make-up. They are the pieces of your DNA that code for specific traits and characteristics. In other words, they are responsible for determining your traits and what diseases you may be more prone to. For example, if you have a genetic variant that codes for blue eyes, you’ll have blue eyes. If you have a genetic variant that codes for freckles, you’ll have freckles. And if you have a genetic variant that codes for heart disease, you’ll have a greater risk of developing heart disease compared to someone who doesn’t have that genetic variant. There are three important things to keep in mind when it comes to understanding what genes are:

  1. The first is that genes come in pairs. We inherit one of each pair from each parent, for a total of two copies of each gene.
  2. The second is that genes are inherited in a predictable way. Your genes are a combination of the genes you’ve inherited from your father and mother. The proportion of each depends on the type of inheritance pattern that gene has.
  3. The third and most important is that only some genes are visible in your DNA. The genes that are visible and can be identified are the ones that are included in a DNA test.

How is DNA testing used to understand genes?

Your genes are written in your DNA, which are the molecules that are found in your cells and makeup who you are. DNA sequencing is the process of reading and identifying the structure of an individual’s DNA. Once a lab has sequenced an individual’s DNA, they can identify their genes and traits through a process called genotyping. DNA testing is the process of sending a sample of your saliva to a lab, where they will read and identify your DNA. 

This process allows you to know exactly what your genes are and find out more about your health and ancestry. By reading your genes, you can find out if there are any genetic variants that put you at a higher risk for certain health conditions, like heart disease, diabetes, or breast cancer. You can also use DNA testing to find out if you are a carrier of certain genetic diseases, like cystic fibrosis or hemophilia. You can also use DNA testing to find out more about your ancestry, such as where your ancestors came from and how long they’ve been in this country.

There are different types of DNA tests to identify genes and diseases

The various types of genetic tests include tests that look at:

  • Paternity testing

Paternity testing can be used during pregnancy to diagnose certain conditions, risk factors, and abnormalities in the fetus. There are several different types of prenatal genetic tests, including amniocentesis, chorionic villus sampling (CVS), ultrasound, and blood tests to screen for genetic diseases. Even paternity testing does not test for all conditions. A doctor will help you decide which prenatal tests to get based on your individual situation and risks.

  • Carrier testing

Carrier testing looks for specific genetic disorders and can help you determine whether you are a carrier of a specific condition. If you’re married to a partner who is also a carrier, there is a risk of having a child with the condition. There are four main types of carrier tests:

  1. Cytogenetics: This test looks at your chromosomes to identify changes in the structure or number of chromosomes in your cells.
  2. Immunology: This test screens your blood or other bodily fluids for antibodies against certain disorders that can cause genetic diseases if your genes are normal.
  3. DNA: This test looks at your genes to see if you are a carrier for certain conditions.
  4. RNAs: This test screens for changes in your RNA that are essential for making proteins in your body.
  • Diagnostic testing

A diagnostic test can help determine a specific diagnosis or find out what caused a medical condition or disease. For example, once a person has been diagnosed with a genetic disease or condition, the geneticist may do a diagnostic DNA test to find out the exact mutations that caused the illness. Diagnostic tests can be done on DNA, RNA, or proteins. Some examples of diagnostic tests include gene sequencing, gene expression profiling, protein analysis, and immunoassays.

  • Predictive and presymptomatic testing

Predictive genetic tests are done to determine whether a person has a significantly higher risk of developing a specific genetic disease later in life. While presymptomatic tests determine whether a person already has the genetic mutation that causes the disease. There are several kinds of predictive and presymptomatic tests, including predictive genotyping, carrier testing, and germline genetic sequencing (looking at the genes in the eggs and sperm).

  • Newborn screening

Newborn screening is done on your child’s blood or heel stick on the very first day of his or her life. It tests for certain genetic disorders that cause lifelong disabilities or even death if left untreated. There are currently more than 40 conditions tested for in newborn screening, including spina bifida, cystic fibrosis, Tay-Sachs disease, and sickle cell anemia.


Genes and DNA are both essential for our existence, but they operate in different ways. Genes are a set of instructions in our DNA that tell the rest of the body how to function. While our genes are constant and unchanging, our DNA is ever-changing: it is being broken down and built up all of the time, and it is susceptible to outside factors like pollution and toxins. By understanding your genes, you can make better health decisions and financial decisions to help prevent certain diseases from occurring.