What is meant by genetic testing?

Genetic testing is a diagnostic test that looks for changes and variations in your DNA. DNA stands for deoxyribonucleic acid. It’s a hereditary material that stores the information necessary to control the life processes of living organisms. Genetic tests analyze your cells and tissue to identify mutations in your genetic material. The following are some key terms that you should be familiar with when learning about genetic testing.

▪ Genes are DNA segments that contain the information for making a protein.

▪ Chromosomes are thread-like structures that are present in your cells. They consist of proteins and DNA.

▪ Proteins are the macromolecules that do most of the work in your cells. Genetic testing can detect changes in the amount and activity of proteins. If the test finds changes and denaturation in your protein structures, it will be due to variations in your genetic material or DNA.

Why genetic testing is performed?

Medical professionals will conduct genetic tests for a variety of reasons, including to:

▪ Identify genetic diseases in developing or unborn babies. This is one type of gestational and prenatal testing.

▪ Screen newborn babies for certain treatable conditions.

▪ Reduce the risk of genetic disorders in embryos created through assisted reproductive technology.

▪ Find out if you have a disease-causing gene that could be passed on to your children. This type of genetic testing is known as carrier testing.

▪ Check to see if you are at a higher risk of developing a particular disease. Medical professionals can conduct this type if you have a family history of diseases.

▪ Diagnose and treat certain diseases

▪ Find out how severe a disease is

▪ Identify genetic variations that may be causing or contributing to illnesses.

▪ Help your doctor decide on the best medication and dosage for you. This is known as pharmacogenomics testing.

How genetic testing is carried out?

Genetic tests are often performed on plasma or cheek swab samples.

However, they may also be done on samples of saliva, skin, hairs, amniotic fluid (the fluid that surrounds a fetus during pregnancy), and other tissue. This sample is sent to a laboratory for analysis. There, lab technicians will use various techniques to look for genetic changes.

What are the benefits of genetic testing?

There are several benefits of genetic testing that includes:

▪ Helping physicians make recommendations for monitoring and treatments.

▪ Giving more information and specifics that will help you make health-related decisions for yourself and your family:

i) If you find out that you are at risk for a particular disease, you can take steps to minimize your risk. For example, you may realize that you should be tested for medical conditions earlier, or you could decide to make healthy lifestyle changes.

ii) If you recognize that you are not at risk for a particular disease, you can avoid unnecessary checkups or screenings.

iii) A test may provide you with information that will assist you in making decisions about having children.

▪ Identification of genetic disorders so treatment can be started as early as possible.

What are the drawbacks of genetic testing?

The physical risks of various types of genetic testing are relatively low. However, there can be social, emotional, or financial consequences:

▪ Based on your tests reports, you may feel depressed, angry, anxious, or guilty. This is especially true if you have been diagnosed with a disease that does not have treatment options.

▪ You may be concerned about genetic discrimination in the workplace or insurance programs.

▪ Genetic testing only gives you limited information about congenital diseases. For example, it cannot predict whether you will experience symptoms, the severity of illness, or whether a condition will worsen over time.

▪ Some medical tests are costly, and health insurance may only cover a portion of the cost. Or they may deny coverage for it.

How do I determine if I need to be screened?

The decision to take up genetic testing is complicated. In addition to consulting your primary physician about your test, you can meet with a genetic counselor. Genetic counselors are specialized professionals and have years of experience in counseling and genetics. They can help you understand your medical conditions and recommend genetic testing based on your health status. If you get the medical test, they will explain the test reports and ensure that you receive the necessary support. Check out Insurance Shopping for more details and information.