What Are Genetic Screenings?


Genetic screening involves more than a simple blood test. Potential underlying conditions could exist within any family, so it might be a good idea to consider having a complete cardiogenetic evaluation. This type of screening looks for changes in a person’s DNA that can inform his/her medical care. If you are considering having a genetic test, talk to your doctor to determine whether it is right for you.

 

Definition of Genetic Screening

 

This medical test identifies changes in genes, proteins, and chromosomes. The aim is to rule out or confirm a suspected genetic condition. It can also help your doctor determine your chances of passing on or developing a genetic disorder. There are more than 1,000 different types of genetic tests in use today. Geneticists continue to develop more.


DNA is the chemical database that stores instructions for your body’s functions. Genetic testing can reveal mutations or changes in your genes. It can provide critical information for preventing, diagnosing, and treating illness. However, there are some limitations.


If you are a healthy individual, for example, a positive result from genetic screening does not always mean that you will develop a disorder. Likewise, a negative result is not a guarantee that you will never develop a disease or disorder. Because of this, the first step in the process of getting a screening is to talk to a geneticist, genetic counselor, or doctor about what you plan to do with your results.

 

Genome Sequencing

 

Sometimes, genetic screenings will not lead to a specific diagnosis. Nevertheless, your doctor may still suspect a genetic issue. In such a situation, you should consider visiting a facility that specializes in genome sequencing. This process involves the analysis of a sample of DNA extracted from your blood. This type of testing can help identify genetic variants relating to your health.


 

Benefits of Genetic Screening

 

Different types of genetic screenings are beneficial in different ways. They allow for diagnostic testing, carrier testing, predictive or presymptomatic testing, prenatal testing, newborn screening, pre-implantation testing, and pharmacogenetics.


 

Common Methods Used for Genetic Screening

 

Here are the most common genetic screening methods:

  • Gene Tests or Molecular Genetic Tests: These types of tests study small lengths of DNA to identify changes or variations that can lead to a disease or genetic abnormalities.

  • Biochemical Genetic Tests: These look at the activity level or a number of proteins. Any abnormalities or deviations can indicate changes to the DNA, which can lead to a genetic condition or abnormality.

  • Chromosomal Genetic Tests: These tests analyze extensive lengths of DNA or entire chromosomes. The aim is to determine whether there are any abnormalities. An extra copy of a chromosome, for example, can cause a genetic condition.


You need to understand that genetic screenings are voluntary. Undergoing such tests comes with certain benefits as well as risks. Therefore, the question of whether to undergo such tests is a complex and personal one. An expert will give you all the information you need to weigh the pros and cons and help you make an informed decision. You also need to discuss the emotional and social aspects of screening with your doctor.




To learn more about genetic screening, visit Partners in Obstetrics and Women’s Health at our office in New Lenox, Illinois. You can also call (815) 240-0554 to book an appointment today.

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