Genetic and hereditary diseases are types of illnesses that for a long time were a nightmare, as it was practically impossible to prevent them from appearing. Fortunately, a lot has changed today thanks to advances in science and medicine. Currently, it is possible to undergo a genetic compatibility test, for example, and thereby prevent various types of diseases—something that was practically impossible to do in the past. How this test works, what it identifies, and how prevention occurs are some of the points we will address so you can learn more about it. But before we dive into the subject of the text, it is necessary to give a brief explanation of what genetic diseases are and how they can manifest in our bodies.
What Are Genetic Diseases?
Genetic diseases are those characterized by alterations in our genetic material, DNA. According to research, more than 80% of people have some genetic variation.Some of these diseases may be hereditary, meaning they are passed from parent to child. However, not all genetic diseases are hereditary. Many people get confused and believe they are the same thing, but they are not.Most genetic diseases develop in the individual themselves. An example is cancer, where less than 10% are hereditary.Genetic diseases can also be divided into three types:
- Monogenic: When the patient has an alteration in only one gene;
- Polygenic: When more than one gene undergoes mutation;
- Chromosomal: When the patient presents a mutation in any of the 23 pairs of chromosomes.
It is considered that each human being has at least 2 altered genes without knowing it. Among the most well-known genetic diseases are Down syndrome, cancer, and sickle cell anemia.
When Is the Compatibility Test Recommended?
Thus, the function of the genetic compatibility test, or GCT as it is named, is precisely to identify the risk of transmission of hereditary genetic diseases. Therefore, the GCT is recommended for couples who are planning to have a child, not only for those where the father or mother has a genetic disease, but even for couples where both live healthy lives and show no apparent illness.This is because if both have a mutation in the same gene, the chances are higher of having a baby with a genetic disease.Today, 1 in every 300 newborns has a genetic disease, but with advancements in genetic compatibility testing and easier access to the exam, it is expected that this number will drop to 1 in every 30,000. Some of the diseases identified in the test are cystic fibrosis and sickle cell anemia.
How Does the Genetic Compatibility Test Work?
The genetic compatibility test is carried out through a blood test that should preferably be done by both the man and the woman. In this sample, the DNA of both is analyzed, potentially resulting in a negative result, when there is no mutation in any gene, or positive when there is a mutation, in which case they are considered carriers.In this situation, the problem arises when both father and mother have a mutation in the same gene, meaning there is a high chance of having a child with a genetic disease. The test should be done at a specialized clinic and the results arrive in about 30 to 40 days.
What Should Be Done If a Problem Is Detected?
A positive result is a concern when both father and mother have alterations in the same genes. In this case, the chances of having a baby with a genetic disease are higher, as are the chances of having a child who is a carrier, just like the parents.In such cases, it is recommended to schedule an appointment with a genetics specialist so you can, together, study the best way to proceed with a safe pregnancy. Some of the options are:
- Pre-Implantation Genetic Diagnosis, or PGD: In pre-implantation genetic diagnosis, the couple’s embryos are analyzed and those free from genetic diseases are selected. Based on this selection, in vitro fertilization occurs.
- Gamete donation: Another alternative is to opt for the donation of gametes free of any genetic mutation.
- Adoption: Parents can also choose to adopt a child, foregoing pregnancy and the risk of having a baby with genetic diseases.
None of these options are easy choices, so it’s important for there to be discussion between the couple and the chosen doctor so you can come to the best decision.
How Much Does a Genetic Compatibility Test Cost?
This type of test is still inaccessible for many people due to its high cost. It is possible to find genetic compatibility tests for up to R$5,000, although there are clinics with slightly more affordable options.It’s up to each couple to decide if it’s worth paying for this type of test in order to have a child with more peace of mind or to consider alternatives such as in vitro fertilization, for instance. The trend is that, with advances in science and medicine, this price will decrease, but for now, it remains out of reach for many people.
What Is Genetic Counseling?
Genetic counseling is basically an exam that checks for a disease that may occur in the family. When couples undergo this type of counseling, they can find out the odds of their child being born with a problem and, consequently, it can help with their decision-making.This type of test is usually recommended for people who have a family history of diseases such as cancer, Alzheimer’s disease, dementia, among other degenerative diseases. It is also indicated for couples of more advanced age who are planning to have children, since the risk of certain diseases appearing becomes higher.Knowing if your baby is at risk and learning how to prevent certain diseases is extremely beneficial and is a positive aspect that science and medicine have brought us.It is a way to anticipate raising our children in a healthy way. This type of test ensures that lives which could be negatively affected can be lived normally.There’s no denying that this is a great benefit and, even though the cost of this type of test is not very attractive, the hope is that it will tend to decrease and more people will be able to access it.Also see: Umbilical Cord Blood Bank – Donating Life Photo: Louis Reed
