Children inherit a genetic program from their parents – this phenomenon is called heredity. If the parents have certain polymorphisms (changes in genes), they are likely to be passed on to the child. In addition, the activity of genes can change during individual development (ontogenesis). This is why members of the same family can be both similar and unique, and why each person is unique.
Genes play a key role in controlling various functions of the body, so their state affects predisposition to disease, the likelihood of vitamin deficiency, sensitivity to toxins and other factors that can harm health.
Genetic diseases
Experts estimate that each person carries around 2,000 genetic defects that can affect their health and in some cases can contribute to serious diseases. Changes in our genes can be caused by a number of different factors (also called mutagens). In some cases, these mutations can go in our favor. Still, the vast majority of them are either neutral or have a negative effect on our health.
These include diseases caused by mutations at the genetic level, which are passed on from parents to offspring. According to statistics, about 4% of children are born with one or another hereditary disease. Among them we can distinguish:
- Huntington’s chorea;
- muscular dystrophy;
- achondroplasia (dwarfism);
- hydrocephalus;
- phenylketonuria;
- Down syndrome;
- type I diabetes mellitus;
- sickle cell anemia;
- endocrine disorders;
- psychiatric disorders.
The hereditary program that parents pass on to their children can:
- worsen health – in the presence of hereditary diseases and disorders, as well as in the presence of hereditary predisposition to diseases;
- promote health – in the presence of healthy heredity and absence of preconditions for disease.
Even if you know that you have a family history of hypertension, for example, from generation to generation, it does not mean that you will have it. Heredity, genetic health is only one factor, sometimes lifestyle is just as important.
Methods for determining the risk of carrying inherited diseases
The risk of being a carrier of chromosomal rearrangements or genetic pathologies is higher in people with an aggravated family history, as well as in parents of children with hereditary diseases. In addition, some diseases are characteristic of certain ethnic groups and nationalities.
To find out the likelihood of carrying genetic diseases, it is necessary to consult a geneticist. The specialist collects information about family pathologies and, if indicated, sends the patient for genetic testing.
For analysis, a sample of blood or saliva is used, which is examined in a laboratory. The laboratory determines the presence or absence of mutations in specific genes or chromosomes associated with hereditary diseases.
The risk of having a child with autosomal recessive disease occurs if both parents are carriers of a mutation in the same gene. In the case of X-linked diseases, the female carrier may pass the disease to her son, while the carrier father will pass the mutation to his daughters, but they are likely to remain carriers only. Women rarely get X-linked diseases.
How genetic tests can help in prevention and treatment
Genomic testing is a powerful tool that can significantly change the approach to disease prevention and treatment. It can be used to identify predisposition to certain genetic diseases, providing an opportunity for early intervention and better health management.
First, the results of genomic testing can help in choosing the best prevention strategies. For example, if the test shows a high risk of cardiovascular disease, doctors may recommend more stringent measures to control risk factors, such as lifestyle changes and dietary modification.
Second, genomic tests can have a significant impact on the choice of therapy. In the case of cancer, for example, information about mutations in genes can help determine the most effective treatments, including targeted therapies, which can increase the chances of treatment success.
In addition, genomic testing provides information about possible side effects of medications, allowing doctors to prescribe safer and more appropriate drugs for each patient.
Overall, the introduction of genomic testing into clinical practice allows for a shift from a standardized approach to more personalized treatment based on each patient’s unique genetic characteristics, thereby improving health and quality of life.
What should I do if there is a risk of genetic disease in my family?
It should be understood that each person is a carrier of many gene and chromosomal changes, but they do not necessarily affect his or her health. Confirmation that a woman or man is a carrier of a mutation affects the decision to have children.
If both partners are carriers of the recessive pathology or the woman carries the X-linked pathology, there are several options. Find out whether the child from such a union inherited a genetic mutation and whether he will be sick, allowing prenatal diagnosis.
To find out in advance whether the risk of disease carriage by kinship has been realized, helps such a method as preimplantation genetic diagnosis. It is performed as part of the in vitro fertilization protocol.
Conclusion
Genetics plays a key role in the formation of human health, determining the predisposition to various diseases. However, it is important to realize that heredity is only one of the factors that influence the state of the body. Lifestyle, environment and preventive measures are also of great importance.
Modern genetic research, such as DNA testing and genomic analysis, provides an opportunity to identify potential disease risks at an early stage. This makes it possible to take timely measures to prevent them, adjust lifestyle and choose the most effective treatment methods.
If there is a risk of carrying genetic diseases, modern technologies, including prenatal and preimplantation diagnostics, help to make informed decisions about family planning.
Thus, genetic information is not a sentence, but a tool for managing one’s health. It is important to use the achievements of science to prevent diseases, improve the quality of life and preserve health for many years to come.
