DNA is the fundamental building material of our bodies, consisting of strands known as genes. Genes are segments of DNA made up of nucleotides, and they determine our uniqueness. Although genes are nearly identical in different individuals, small changes in them can have significant consequences.
These changes often occur due to point mutations, where one nucleotide is replaced by another. These mutations can lead to both the enhancement and deterioration of gene functions. In some cases, they result in monogenic diseases caused by a mutation in a single gene.
However, there are other mutations that do not necessarily lead to diseases but can increase the risk of developing various conditions. These changes, known as gene polymorphisms, are more common and can elevate the likelihood of developing multifactorial diseases such as cancer, cardiovascular diseases, and allergies.
It’s important to understand that the presence of gene polymorphisms by itself does not guarantee the development of a disease. Instead, external factors and the environment also play a significant role in this process. To provide a more accurate assessment of the risk of disease development, both genetic factors and external conditions need to be taken into account.
This is where genetic testing comes into play. It is a powerful tool that allows the identification of mutations associated with monogenic diseases and gene polymorphisms that increase the risk of multifactorial diseases. Let’s explore how this can change our lives:
Revealing Genetic Predispositions
Genetic testing can predict a predisposition to specific diseases. For example, tests for the BRCA1 and BRCA2 genes can indicate the risk of breast and ovarian cancer, enabling individuals to take necessary preventive measures.
- Predicting Drug Reactions
Genetic testing helps predict how an individual’s body responds to medications. This is crucial for developing safe and effective treatments while avoiding undesirable side effects.
- Personalized Cancer Treatment
In oncology, genetic testing is invaluable. It allows for the detection of genetic mutations in cancer cells and determines the best treatment method, minimizing side effects.
- Detecting Rare Diseases
Genetic testing aids in the definitive diagnosis of rare and genetic diseases that are challenging to detect using traditional methods.
- Family Planning and Reproductive Health
For prospective parents, genetic testing helps determine the risk of passing on genetic disorders to their children, providing crucial information for family planning.
- Assessing Disease Risk
Genetic testing helps assess the risk of developing various conditions, such as cardiovascular diseases, Alzheimer’s disease, or diabetes.
- Guidance for Diet and Lifestyle Choices
Some genetic tests provide information about metabolism and dietary needs, helping create personalized diets and individualized physical activity programs.
- Genetic testing opens the door to the world of personalized medicine, where each patient can receive the best solutions based on their genetic characteristics. Thus, knowledge of one’s genome becomes the key to a long and healthy life.
- Early Detection and Prevention
Genetic testing can identify genetic mutations associated with hereditary cancers and other diseases. This allows for early disease detection through regular screening and the prescription of necessary preventive measures.
How genetic testing is conducted and what information patients receive
Now that we understand the importance of genetic testing, let’s delve into how it is performed and the information provided to patients.
Sample collection and analysis
Molecular genetic testing requires only a small amount of blood (5 ml), collected in an EDTA tube. Blood contains DNA, which is used to detect mutations and gene polymorphisms. Additionally, patients are asked to fill out a questionnaire, which aids in the interpretation of test results.
In the laboratory, DNA is extracted from the blood sample and analyzed for mutations. Since human cells have two sets of genes (one from each parent), the results may include three variants:
- -/-: No mutation is present (normal polymorphism).
- -/+ or +/-: Heterozygous mutation (in one of the paired genes).
- +/+: Homozygous mutation (in both paired genes).
These results help determine whether the patient has genetic variations that may affect their health.
Analysis of results and consultation with a geneticist
Subsequently, a geneticist analyzes the data obtained. They use the patient’s questionnaire, consult a vast database, and review scientific literature to assess the risk of developing diseases related to specific mutations and polymorphisms. Based on this evaluation, the geneticist develops recommendations for the patient and their treating physician.
These recommendations may include preventive, diagnostic, and therapeutic measures aimed at minimizing identified risks. For example, if a mutation associated with monogenic diseases is detected, the patient may be referred for additional testing and treatment. If polymorphisms related to multifactorial diseases are found, the patient may receive guidance on lifestyle changes and preventive measures.