Genes store data about each of us that is unique, and highly individual. These include eye color, the tendency to baldness, obesity, and even the development of cancer and Alzheimer’s disease.
From studies on genes and heredity (genetics), it has been possible to create tests with the potential to diagnose different types of genetic diseases. For this discovery, it is sufficient to use samples such as saliva or blood. It is even possible to predict the risks of developing hereditary problems, even if the person shows no symptoms.
Enjoy reading to learn more about genetic testing.
What is genetic testing?
The purpose of a genetic test is to look for specific inherited changes (which are mutations) in a person’s chromosomes, proteins, or genes. These changes can be beneficial, detrimental, neutral (no effect), or of an uncertain nature.
In the case of deleterious mutations, they tend to increase a person’s chances of developing serious diseases, such as cancer. In general, hereditary alterations cause between 5 and 10% of cancers.
Cancer often seems to run in families, even if it is not the result of inherited mutations. A shared living environment or specific lifestyle can cause similar types of cancer in people from the same family. This is the case with smokers, for example, as most of them develop lung cancer.
Even so, some patterns, such as types of cancer, non-cancerous diseases (heart disease, for example), and the age most conducive to the development of the problem may indicate the existence of a hereditary syndrome.
How does genetic testing work?
In most cases, genetic testing is ordered by a physician. Testing is performed on a small sample of tissue or body fluid, such as blood, saliva, skin, amniotic fluid, and cells from the inside of the cheek.
This sample is sent to a laboratory qualified to perform this type of testing. The result is sent to the physician who ordered the test and, in some cases, to the patient. The results may take some time to arrive, usually a few weeks.
Genetic counseling is done before the test and after receiving the test results so that the physician has more accurate information about the importance of a specific test for the patient.
The development of genetic testing
Scientists are conducting studies and research to develop better ways to identify, treat and prevent cancer in patients who carry genetic mutations and are therefore more vulnerable to the disease.
The sharing of these discoveries and information is relevant to medical work and in the fields of ethics, behavior, and health about human genetics. Researchers are seeking improvements in various methods, including laboratory methods, for effective genetic testing.
In what situations can genetic testing be functional?
Testing can be useful in several situations. Here are some examples:
Disease treatment and diagnosis.
In oncology (which studies cancer), DNA Genetic Testing helps identify genetic alterations that are related to cancers of different types. The likelihood of the disease occurring can be calculated based on family history or whether the person has the disease himself.
When tumors already exist, genetic testing is performed on the tissue to understand how they function and evolve and define the best treatment type.
Prescription of drugs
A drug is not always effective for everyone. Pharmacogenetics studies the personal reaction to each drug to define the most effective treatments.
As an example, we can talk about the tendency of a given patient to metabolize certain drugs faster or slower. This is a determining factor when selecting a drug and prescribing the most appropriate dose.
Genetic testing is already being used in the United States, the Middle East, and Europe to define strategies to help increase the performance of top athletes. Even outside professional sports, many people turn to DNA to understand why they sweat so much, or why they train hard and still can’t lose fat and gain muscle.
Genes can also assess predisposition to fat accumulation and lean mass gain, which workouts muscles react best to (blast, aerobic), and the danger of muscle injury.
Changes in genes involved in the metabolism of sugars, proteins, and fats explain why the person eats poorly, and cannot lose weight and other things. It is also possible to assess the tendency to hypertension and obesity.
The percentage of influence of genes on metabolism is about 25%, the rest is due to lifestyle.
With the help of a small amount of saliva, it is possible to receive a map of their ancestry, i.e. in which countries they lived. DNA Laboratories like GALAXYDNA can analyze up to eight generations.
When should a genetic test be performed?
Genetic testing should be performed primarily on a preventive basis. For this reason, people who have relatives who have suffered from a hereditary disease should be tested. We can define the following main situations:
- diagnosis of a genetic disease to identify the mutation responsibly;
- prediction of the worsening of a disease, or prognosis;
- more effective disease management by physicians and decision on the optimal treatment;
- medical investigation of the same genetic alteration in other people in the family and then genetic counseling for them.
What are the benefits of genetic testing?
In the case of different diseases, genetic testing is the only way to make a reliable diagnosis without the need for other tests. Only a specialized physician can truly assess the need for genetic testing.
For some diseases, preventive measures, including early interventions, can save the patient’s life. Genetic testing helps physicians choose the best therapy for the patient. In addition, the test results will be valuable for family planning.
Genetic testing is an important preventive aid for anyone and also optimizes the physician’s analysis and treatment. If the professional considers it pertinent, it can even be requested during the patient’s regular check-up, as a way of confirming that there is no serious problem on the way.