Genetic Testing in Children: What, How, Why?

Genetic testing has been around for quite a while, but it was reserved for very specific cases. Nowadays, it’s becoming more of a common practice by paediatricians—though there are times in which it makes sense and times when it’s not necessary, as with any test, it is now increasingly considered as an option in many opportunities.

What is genetic testing?

You may have heard of testing a person’s DNA for hereditary diseases. Or you may have inferred from the term itself that it refers to analysing the genes. Well, that is exactly what it is, but there are more than one kind of genetic testing.

The difference between them is simple: some sequence the whole genetic code that is in someone’s DNA (called “genome”) while others are specific to a part of the genome, that is, only certain genes. These may vary in cost or resources needed to perform them, which is why both options exist.

Generally, when run for confirmation, only a part of the genome is tested. This means that, if a doctor is trying to confirm if a person has X disease, and they already know which genes can be studied to determine that, they will only test those.

But, if the situation is more complex and the medic deems it appropriate to test the whole genome in order to identify possible diseases and/or possible causes, they will do so. This way, genetic testing can lead to finding the answers they need when symptoms don’t point to anything specific or if other tests are inconclusive.

How is genetic testing done?

The procedure, from the patient’s (or their parents’) point of view, is pretty simple: a tiny bit of blood is extracted, as in any common blood test. The blood sample is then analysed according to the doctor’s request.

Or it can even be done in a simpler way: with a sample of tissue or saliva. This will depend on factors such as what the health professional recommends.

On this note, it is important to note that before a genetic test is done, parents should ensure to talk in detail with an experienced doctor who also understands the patient’s case thoroughly. This is not only in order to explain the risks (and benefits) of this kind of testing, but also, because results must be delivered in context. This is why you should only contact paediatricians in Berwick that you trust.

Why genetic testing in children?

This kind of test is very useful when aiming to diagnose a disease or condition that may be hereditary and/or be a result of a mutated gene. Confirming what exactly the condition is and where it comes from can provide reassurance.

But the most important thing it can help with is in knowing next steps, specific therapy or care, if the disease can be transmitted to your kid’s children, if other family members should be tested, etc. In other words, it gives you a more detailed guidebook than other tests.