The Advantages of Genetic Testing

What is genetic testing?

Genetic testing involves the screening of an individual’s DNA and genetic information, in order to learn more about their genetic health. 

Genetic testing may –

Identify if an individual is a carrier for a genetic or chromosomal mutation or change

Identify if an individual is at higher risk for developing a specific rare disease

Identify if an individual has a rare disease or genetic syndrome

The main advantages of genetic testing

Identifies carriers

One of the main advantages of genetic testing is its ability to screen for and identify specific gene mutations that individuals may carry. This is important, especially in the context of parents-to-be, because it enables them to understand if they are the carriers of a gene chance which might (depending on how it is inherited) cause a specific rare disease in their children. 

Carrier genetic screening enables parents-to-be to make informed decisions about their family planning, in order to ensure the optimum health of their children. Parents who know they are carriers can make decisions about how they may conceive their children, in order to ensure they are not affected by a specific genetic syndrome. They are also able to plan for the possibility of having a child with a rare disease, and what this will mean in terms of future care options for that child, if necessary. 

Identifies risk

Genetic testing is able to screen for and identify potential risk of a rare disease developing in an individual, usually before birth. This is the role of prenatal genetic screening and testing, from first trimester screening for down syndrome risk, to the more accurate and specific diagnosis provided by amniocentesis and chorionic villus sampling. 

This also enables parents-to-be to make decisions about their future pregnancies and children, based on these results. They are also able to plan for the eventuality of having a child with a rare disease, and all that this might entail. 

Diagnostic tool

Specific genetic tests are able to diagnose rare disease in an individual. Generally these are performed after a rare disease is suspected, due to a family history or due to the presentation of specific symptoms in an individual.

The main advantages of diagnostic genetic health testing is its ability to diagnose a genetic syndrome. Once an individual receives an accurate and confirmed diagnosis, they are then better able to access the care and potential treatment necessary to live long term with their syndrome. Early intervention and targeted medical care improves life outcomes and quality for rare disease patients, and genetic testing plays a significant contributory role towards this. 

Genetic counseling 

In order to better the advantages of genetic testing, anyone who has been referred to genetic testing for any reason, should consult with a genetic counselor. A genetic counselor will be able to explain the benefits of genetic testing, and the different types available, as well as the most suitable type for the needs of an individual. Genetic counseling services play an important role in connecting patients to the most suitable type of genetic testing, for a more accurate diagnosis.

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