How Does Genetic Testing Work?

A genetic test examines your DNA to determine which changes are causing the disease or putting you at a greater risk of having the disease in the future. Well, DNA is the code for our body.

Earlier, only one gene could be detected or tested to try to find the cause of a disease. Now, it is not a challenge.

People opt for genetic testing for many reasons. Here are a few of them.

Genetic testing has potential advantages from positive or negative results for a genetic mutation.

Outcomes can alleviate uncertainty and help people make informed decisions about the management of their health care.

A positive outcome can direct a person to prevention, supervision, and suitable treatment options.

It helps in making big decisions about having a baby in the future.

The next question is, how are these tests performed?

Consult Your DoctorIn Lab

Either your doctor prescribes you to take a diagnostic test or chooses to do it independently. In both cases, the doctor explains the procedure and takes your consent on a consent form.

Once you do all documentation formalities, your DNA sample is collected. Samples are blood samples, saliva, skin, and fluid around the baby during pregnancy or tumor.

In lab

As per the DNA test prescribes for you, a test of DNA sample happens in the lab.

DNA Sequencing

Sequencing tests examine your DNA and look for variants in DNA. This test gives pieces of information about a particular gene and its variants. It gives information about genes that make proteins and DNA. After this, your DNA goes into a machine called a DNA sequencer. The DNA sequencing machine reads your DNA and collects data called short “reads.”

Analysis of DNA

With the help of technology, all the reads of DNA are put together.

In the next step, a comparison of these readings with the entire DNA found in a human body occurs.

The result of this comparison makes the report.

The report lists All the DNA Variants or the changes. Don’t worry; these changes make us unique, and at this point, it is not clear if these changes are the reason for any worry.

Some DNA Variants can cause diseases like Down syndrome, and some are perfectly fine.

Last Step

The last step is the step of interpretation of your report. A panel of experts from different fields like Doctors, scientists, genetic counselors, and computers sit together to analyze your report. If they find the cause of your disease, then you take other tests to confirm the result.

You may receive your report in days or weeks; it varies. Also, once your test is done, it goes into your medical record. Beware some employers and insurance companies may misuse this data.

Source: How Does Genetic Testing Work?