Types of Genetic Screening and What to Know

Posted on: 25 April 2019

When you visit your doctor or specialist, a type of testing may be mentioned that would surprise you. This type of testing is genetic screening. You may know that genetics deals with DNA. What you may not know is why this type of screening is being mentioned to you as part of your treatment. Here are a few types of genetic screening you may face and what you need to know about each screening.

Diagnostic Screening

Diagnostic screening is a form of genetic testing that helps to narrow down any genetic issues you may be having. For example, if you have been sick and showing signs of a particular genetic disease, the screening will help confirm or rule out the genetic issue. This type of screening is usually the first step a doctor takes to potentially confirm options that may be related to your specific medical conditions. Once this test has been given and the results are in, your doctor will move forward with further testing.

Carrier Screening

Carrier screening is a form of genetic testing that determines if you are a carrier of a genetic illness that is in your family medical history. One of the most common reasons doctors use carrier testing is for sickle cell anemia. Other genetic screenings can be done for illnesses such as cystic fibrosis. This type of testing can also show mutations that may be caused by genetics in your specific family line or ethnic background.

Prenatal Screening

If you are pregnant, genetic screening may be mentioned for several reasons. The screenings are done during the prenatal phase to determine if certain issues are present. One of the most common genetic issues that prenatal screening looks for is Down syndrome. This test looks for markers that appear in the blood and DNA that can show the probability of Down syndrome being present. This prenatal screening is usually done during the first two trimesters, and in many cases during the first trimester. This is an optional test for many patients, unless there is a critical screening that could affect the life of the child that the doctor feels needs to be done during the prenatal phase. 

If your doctor or specialist mentions any form of genetic screening to you, make sure to discuss the reasons why. Discuss with your doctor why they want you to take the test and what the results may show in relation to your specific medical issues. They can also answer related questions you have and walk you through the process and what to expect during the screening.


Staying Healthy in Old Age

Hello, my name is Maggie and I live in Queensland, Australia. When I was younger, I was always as fit as a fiddle. I would run marathons and go swimming in the sea. However, as I got older, I started to notice that I couldn't quite do what I used to. I started to get aches and pains in my back whenever I tried to exercise. My friend suggested I see the doctor and he sent me to the local health care clinic. The specialist there was able to identify the problem and he provided some fantastic treatment. He also gave me some great advice about staying healthy in old age, so I decided to start this blog.


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