¿Qué son y cómo funcionan las pruebas genéticas en niños?

What are genetic tests for children and how do they work?

What are genetic tests in children: definition and different types

Genetic testing in children is a check that is performed to screen, confirm or rule out some type of congenital disease. These tests are usually performed on newborns, but if in doubt, they can be performed later.

There are numerous types of genetic tests available, depending on the child's age and symptoms. We'll focus on tests for newborns, as prenatal tests are available, and the most common are the following:

  • Newborn Diagnosis: Blood tests, known as the "heel prick test," are often performed to check for genetic markers that indicate whether the baby has any genetic diseases. This is the most common test because it allows for early diagnosis or exclusion.
  • Pharmacogenetic testing: Pharmacogenetic testing checks how a child's genes react to certain medications. It's usually done after a previous diagnosis has been made.
  • RNA analysis: RNA analysis is used to diagnose certain diseases. RNA analysis sometimes provides greater accuracy.
  • Protein analysis: Protein analysis is achieved through DNA, and this is essential to determine predisposition to certain diseases.
  • Genome sequencing: This test is more complex, but it allows us to know a person's genome and also their predisposition to certain problems or disorders.

Blood, saliva, hair, or tissue samples are taken for analysis. Depending on the case, more or less samples may be needed.

What are genetic tests for in children?

The purposes of genetic testing in children are varied. Some are well-known, but others are less so. Here are the main examples of reasons for genetic testing:

1. Disease detection

The main objective of genetic testing in infants is usually the disease detection . That's why the "heel prick test" is so common. Today, there are numerous markers that can be used to rule out or diagnose congenital and/or hereditary . This is also done with children of a certain age if there is a suspicion that they suffer from a genetic disease.

Although it's true that compatibility tests can be performed before conceiving, the origin of some genetic diseases is not sufficiently researched. Therefore, it's a good idea to check this beforehand.

2. Detection of possible negative reactions or allergies

Another usefulness of genetic testing at these ages is the detection of possible allergies . When a Pharmacogenetic testing , for example, allows us to know what a person's possible reactions are when taking certain medications.

It's worth noting that sometimes it's possible to use negative treatments or supplement them to reduce the discomfort. If you want to minimize the chances of a child suffering allergic reactions, this is one way to do it.

3. Predisposition to suffer from diseases

A genetic analysis can not only confirm or rule out diseases; it also helps to determine the predisposition to suffer from certain diseases . Now, for this it is advisable to carry out a complete DNA sequencing . This is no longer just a simple screening, but a comprehensive test that can establish probability.

These tests tend to be somewhat more expensive, but they have an advantage: if we are parents, they allow us to help our children, from the very beginning, develop healthy habits and minimize risks. Therefore, it's worth keeping this in mind.

4. Genetic testing in children for treatment

A genetic test is also used for the treatment of diseases in children. And it's worth keeping this in mind, as it gives us information to know what treatment is possible and which is best.

If genetic testing isn't performed, the disease may be being treated incorrectly, as if it weren't a disease. Incorrect treatment can sometimes be harmless, but other times, it can be counterproductive to improving health. Furthermore, we're not just talking about pharmacology, but also about how to better manage environmental factors.

Therefore, knowing whether a problem is genetic or not is essential when determining the correct treatment. Hence, some basic tests are becoming more widespread.

5. Determination of parentage

Genetic tests also serve to determine parentage. In a paternity test A genetic sample from both the child and the alleged father is required, and today, paternity, if confirmed, can be determined with a 99.99% accuracy; if the test is negative, this accuracy reaches 100%. If there are reasonable doubts, this is a simple way to resolve them.

Therefore, these tests, in cases of doubt, are used to clarify rights and obligations. In fact, accuracy has legal consequences, and today these tests are used in the judicial sphere. This is one of the quickest and simplest tests to perform, provided the sample is in good condition.

6. Research

Genetic testing in children is also used in the field of academic research . But this is achieved in several ways:

  • Criminal investigation, if the commission of a crime is needed. It's not the most common approach, but genetic testing is sometimes performed for this purpose.
  • Statistical research. If, for example, the goal is to determine whether a particular ethnic or population group has a genetic predisposition to certain disorders or diseases.
  • Genealogical research. These tests can sometimes be used to compare a family's family tree and determine whether or not any changes have occurred.

When these types of tests are conducted, they can also be initiated by a government or an academic institution.

In summary…

Knowing the different genetic tests for children and their usefulness is important, especially if you are a parent or plan to become one. Genotics You'll find a list of different types of genetic tests, detailing their characteristics and what they offer. Visit our portal to learn more!

Back to blog

Leave a comment

Please note, comments need to be approved before they are published.