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Mutation analysis: understanding your own genetic code
When genes can tell you everything about health
Vera Ivanovna, 42, went to the doctor after two of her maternal aunts were diagnosed with breast cancer. She feels well and leads a healthy lifestyle, but the thought of heredity has been troubling her. Her gynecologist advised her to get tested for genetic mutations. Two weeks later, a test confirmed the presence of the BRCA1 mutation—a game-changer. Thanks to this, she was able to receive preventive treatment and take control of her future.
«"Genetic analysis is an opportunity to look into your biological future. And the earlier it is done, the better the chances of preventing the disease,", — explains clinical geneticist Iryna Sobol.
Today, mutation analysis is not exotic. It is a tool of modern preventive medicine, available to everyone.
What are mutations and why do they affect health?
Mutations are changes in the structure of DNA that can affect protein synthesis, cell growth regulation, immune response, or drug sensitivity. Some of them are hereditary and passed down from parents, and some are acquired during life (under the influence of the environment, stress, nutrition, viruses).
In what cases is a mutation analysis prescribed?
hereditary cancer in the family (breast, ovarian, colon cancer)
miscarriage, abortion
fertility problems, preparation for IVF
recurrent thrombosis, thrombophilia
suspicion of hereditary diseases
selection of drugs based on the principles of pharmacogenetics
«"We often detect mutations in genes even in people without symptoms. This allows us to act proactively,", — notes geneticist Dmytro Strutynsky.
Types of mutations detected in clinical practice
| Gene | Role | What does mutation mean? |
|---|---|---|
| BRCA1 / BRCA2 | DNA repair, tumor prevention | Risk of breast, ovarian, prostate cancer |
| MTHFR | Folic acid metabolism | Risk of thrombosis, miscarriage, metabolic disorders |
| CFTR | Cellular ion transport | Cystic fibrosis (with two mutations) |
| TP53 | Suppression of tumor growth | Multiple risks of cancer |
| F5 (Leiden) | Blood clotting | Tendency to thromboembolism, especially in pregnant women |
Diagnostic methods
PCR (polymerase chain reaction) — for point detection of mutations
NGS (next generation sequencing) — research of dozens and hundreds of genes
Microarrays or multiplex platforms — disease panel screening
FISH and MLPA — with chromosomal abnormalities
The analysis is performed on a venous blood sample or a swab from the oral cavity.
What do the analysis results mean?
Pathogenic mutation detected: high risk of developing the disease, possibility of targeted prevention or treatment
Variant of undefined value: additional interpretation is needed
No mutation detected: the risk is reduced, but not excluded - an assessment is required taking into account lifestyle, ecology, and medical history
The results are always interpreted by a geneticist. He determines not only what each gene means, but also how to proceed.
Preparing for the test
can be taken regardless of time of day and mealtime
no special training or diet required
it is important to provide a complete family history (oncology, miscarriages, heart disease)
Mutation testing is more than just a lab test. It's a glimpse into your body's future. Knowledge is power. And in the case of genes, it's also a chance to avoid what seemed inevitable.
