How genetic tests can detect the risk of inherited diseases

How genetic tests detect (and minimize) the risk of inherited diseases

It is no secret that genetics is behind the hereditary diseases . Therefore, knowing the genetic background of a parent is essential to minimize the chances of transmitting diseases or to consider other family planning formulas.

Genetic tests are a test that can be performed at any time in life , even in newborns (the so-called heel prick test). In some cases, there is even the option of performing a heel prick test. fetus , from a certain point of development.

The ways to take a sample of DNA to make a genetic testing There are several: blood, tissue, or saliva , among others. Therefore, it's relatively easy to gather the information needed to determine if a disease is a potential cause. Depending on the case or stage of development, one analytical technique or another may be chosen.

We recommend doing a genetic test before having children, to find out what are the probabilities that it has problems or diseases . Tests should also be done if there is any risk of genetic disease or if there is a compatible symptoms . And, of course, if you have any collateral or direct relatives with this type of disease.

When we have this information, it's easier to make decisions because, ultimately, information is power. And, obviously, the likelihood of avoidable situations occurring will be reduced. That's why these tests have become more widespread in recent years.

It's important to know what types of genetic tests we can perform, as well as the types of inherited genetic diseases that exist. Let's check them out...

What types of genetic tests can be done to detect the risk of hereditary diseases?

As we have indicated, the genetic testing They can be done before having children or as adults. The most commonly used methods in these cases are the following:

• Compatibility test: The compatibility test is used to indicate whether two people have a compatible genetic distribution. Or, in other words, if they have genetic combinations that could increase the likelihood of their offspring having diseases. It is always recommended, but especially when there is some degree of consanguinity or when one belongs to an endogamous ethnic group.
• Carrier test: Carrier testing is performed on a person and can be done at any time in life. Essentially, it checks for any genetic mutations that could be passed on to offspring. Here, you can choose to set up certain markers and check whether or not there is any type of mutation.
• Preimplantation test: Preimplantation testing is used in so-called "in vitro" fertilization. What is the goal in these cases? It's to check whether the embryos are carriers of any genetic diseases before implantation in the uterus.

The idea, ultimately, is to have this information available in time to make the decisions considered at any given time. It's clear, however, that this must be done before conception, otherwise it would be much more complex, except for preimplantation screening.

Let's keep in mind, however, that sometimes we'll talk about probabilities or predispositions, while at other times we'll have certainties. This happens, for example, with monosomic diseases with a dominant gene. Therefore, taking precautions becomes especially important.

What types of genetic diseases can be prevented or detected?

Genetic tests can detect several types of diseases. Among these, we can highlight three types: multifactorial, chromosomal, or monogenic. Let's examine each case separately:

Multifactorial diseases

The multifactorial diseases are those that are due to various different factors . However, these can be, and sometimes are, hereditary genetic factors. Therefore, it's a good idea to check whether you have a genetic predisposition to transmit this condition. Furthermore, it's sometimes useful as a screening test, and this can be verified with specific genes.

Some multifactorial diseases that include a genetic predisposition component are Alzheimer's, Type 2 diabetes, and some types of cancer. There's usually more of a predisposition than a cause-effect relationship, and if you suffer from these diseases, you should consider it. Remember, research is making significant progress in these areas.

Chromosomal diseases

Chromosomal diseases occur because there is a modification in the structure or the number of chromosomes . It may be that a part of a chromosome is missing or that there is an extra copy of a pair of chromosomes. In both cases, there would be a problem that is largely due to genetic inheritance (although not exclusively).

The most well-known chromosomal disorder with a partially hereditary component is Down syndrome (Trisomy 21). However, there are other disorders with this condition, such as Turner syndrome, Edwards syndrome, and Klinefelter syndrome. However, in most cases, the onset is very early.

Monogenic diseases

The monogenic diseases These are those that affect only one gene. They can be dominant (one parent only needs to have the mutation) or recessive (both parents need to have it). Generally, the vast majority of these diseases can be detected at birth, or very shortly after.

Some common monogenic diseases include cystic fibrosis, sickle cell anemia, hemophilia, Huntington's disease, Marfan syndrome, phenylketonuria, and Tay-Sachs syndrome, among others. In some cases, such as hemophilia, only men suffer from it.

Monogenic diseases are relatively easy to detect if the appropriate sample is available. In fact, since only one gene is affected, there's no need to perform additional tests beyond what we already have.

In summary…

Genetic tests are very useful because they help you better plan how and when to have children. Therefore, doing these checks before conceiving or implanting embryos is a good idea. At Genotica, we have a genetic test comparison tool so you can find the one you need based on price, features, and availability. Try it ! and get your confidential test!