What are the different types of genetic diseases?
The main types of genetic diseases that exist
Genetic diseases can be classified based on the type of problem , and this is especially important in terms of prevention or detection . There may be several reasons: one or both parents may have genetic abnormalities, or other ancestors may have them; and there are also elements of randomness that may increase in certain cases (high-risk pregnancies).
Today, we have abundant genetic information available to identify the origins of a disease. And, although there is still much ground to cover and complete, there is sufficient scientific evidence to classify many diseases as genetic. However, classifying the types is important to better understand their origin, prevent them, and know how to treat them promptly, if possible.
That said, we can point out the different types of genetic diseases that exist. Take note, this will interest you:
1. Genetic diseases: monogenetic effects
Monogenetic defects are those types of genetic disorders caused by a problem in a single gene . This category includes so-called hereditary diseases, which are the result of a recessive gene (the same gene in both parents) or a dominant gene (a single gene in one parent). It should be noted that, in some cases, this gene can be inherited from several generations, hence the need for analysis.
There are several examples of this type of disease: sickle cell anemia, certain muscular dystrophies, cystic fibrosis, hemophilia, familial hypercholesterolemia, Huntington's disease , fragile X syndrome, Joubert syndrome , or polycystic kidney disease, among others.
2. Diseases due to multifactorial problems
Sometimes, the problems that lead to a genetic disease are multifactorial , meaning they cannot be attributed to a single cause. Here, monogenic defects can be combined with chromosomal problems or teratogenic disorders . It's also important to note that external environmental factors can influence these types of situations. Therefore, it's important to be clear about this issue because, sometimes, the genetic origin is complex.
Here we must point out that there are many diseases for which there is still no scientific evidence that they are multifactorial in origin, but they are being researched. That said, we can still talk about diseases such as asthma, diabetes, certain neurological disorders (Alzheimer's, schizophrenia, bipolar disorder), arthritis, and cleft lip.
3. Diseases due to chromosome problems
Chromosomal disorders occur due to an alteration in one of the chromosomes, either because they are missing or because there is a mutation that modifies them . Remember that, under normal conditions, each person has 23 pairs of chromosomes. It's worth noting that, in this case, age can be an important risk factor for an increased incidence of these diseases; for example, this is evident in late pregnancies.
The best-known genetic chromosome disorder is Down syndrome , since these individuals have an extra copy of chromosome 21, which is called trisomy . Other diseases resulting from chromosome problems include trisomy 13, thalassemia , trisomy 18, and Turner syndrome.
4. Diseases due to teratogenic disorders
Teratogenic disorders are the other type of genetic disease that exists. Basically, they consist of malformations or genetic problems that occur during pregnancy due to some type of problem. Most often, though not always, it is due to the mother's exposure to a certain environment (pollution, asbestos) or the use of certain substances (alcohol, drugs, poor diet).
Some diseases that result from teratogenic disorders include microcephaly, chorioretinitis, some cerebral palsy types, hydrocephalus, and sensorineural hearing loss, as well as various types of cognitive developmental delay. To do this, however, it would be helpful to verify that the parents' previous genetic background was good.
How to prevent and/or detect possible genetic diseases?
Based on the information we have at our disposal, there are several ways to prevent or detect possible genetic diseases. Would you like to learn more? These are the most common:
Genetic compatibility test
Genetic compatibility testing is the ultimate preventive tool for avoiding genetic diseases . This test is performed on a couple who intend to have children, either through natural methods or in vitro fertilization.
What does this test provide? An analysis of whether there are recessive or dominant genes that could be passed on to offspring, and, above all, which types. This way, we know the likelihood of genetic diseases or, on the contrary, whether there is no such risk a priori. In recent years, thanks to the lower cost of these tests, more couples are undergoing them.
Although this test is recommended for all couples, it should be mandatory in certain cases due to the high risks: in blood-related couples (cousins or second cousins), in couples from a certain ethnic group with little contact with the outside world, and in couples whose immediate ancestors have a history of genetic diseases.
Genetic test
Genetic testing is a diagnostic test performed directly on the individual . It is usually performed on newborns or young infants, but it can also be performed on adults. This allows the individual's genes to be checked for any abnormalities or alterations. This is a very accurate way to determine the genetic origin of a multitude of diseases.
Now, we must point out that this test is performed when symptoms compatible with certain diseases have already been present. At this point, it's more about confirming the origin of the disease. Once it's located, it's easier to plan a treatment with a chance of success.
Conclusion
Genetic diseases can come in many forms, which is why taking a genetic compatibility test or a prior genetic analysis is very useful for you and your potential offspring. At Genotica, we make it easy for you to compare available laboratories at the best price. Contact us if you have any questions !