What is genetic testing?
Genetic testing involves the screening of an individual’s DNA and genetic information, 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 change that 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, to ensure the optimum health of their children. Parents who know they are carriers can make decisions about how they may conceive their children, 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.
2. Identifies risk
Genetic testing can screen for and identify the 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.
3. Diagnostic tool
Specific genetic tests can diagnose rare diseases 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 advantage 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 improve life outcomes and quality for rare disease patients, and genetic testing plays a significant contributory role in this.
Genetic counseling
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.
Genetic testing offers significant advantages, especially when paired with the Child Development Checker app. For parents concerned about developmental delays or genetic conditions, this app provides early insights and identifies issues. Using the app before consulting a genetic counselor ensures informed and personalized support. This integration empowers families to confidently manage their child’s overall developmental conditions.
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