What are genetic tests and how do they work? [WE EXPLAIN]

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Genetic testing is becoming an increasingly accessible and common form of preventive healthcare. Based on the examination of genes, it is possible to diagnose not only genetic diseases or to establish paternity. The tests also assess the likelihood of a person developing cancer and detect food intolerances. When to perform genetic tests and how do they proceed?

Genetic testing – what is it?

The genetic material of a human contains information that determines its functioning and appearance. The DNA recording determines the color of the eyes or hair, but it also determines our predisposition to developing various diseases, including cancer. Getting to know detailed information about the human body is possible thanks to genetic tests.

DNA testing not only shows which diseases threaten us, but also informs about genetic mutationsthat we can pass on to our offspring. Genetic tests are performed for specific genes. An example can be mutations in the BRCA1 gene, which over time very often lead to the development of breast or ovarian cancer. The procedure involves analyzing a blood sample or swab from the inside of the cheek.

Remember that a genetic test is not a guarantee that we will never get cancer. If the examination does not detect an increased predisposition to developing a given disease, it may develop under the influence of external factors.

What can genetic tests be performed for?

Genetic testing is a diagnostic method that is especially popular with regard to neoplastic diseases. Performing preventive examinations allows to determine whether we belong to a group at increased risk of developing cancer. Mutations of individual genes usually indicate the chance of developing a specific cancer.

Genetic tests are carried out, among others at an angle:

  1. breast and ovarian cancer (BRCA1, BRCA2, CHEC2 genes);
  2. prostate cancer (BRCA1, HOXB13 genes);
  3. colorectal cancer (APC, BRCA2, CHEC2 genes);
  4. thyroid cancer (CHEC2) and medullary thyroid cancer (RET1);
  5. cancers of the digestive system, lungs, leukemia, sarcomas, gliomas (p53 gene).

Genetic tests are very effective also in determining paternity, but their application is wider. With the help of DNA tests, infertility is diagnosed, food allergies and intolerances are also detected genetic defects in the prenatal period. They are also used to plan the treatment of neoplasms after their detection, as they enable the selection of the most effective drugs for a given patient.

Read more about genetic testing:

  1. for food intolerances;
  2. before losing weight and choosing a diet.

Genetic tests – indications for research

If we are wondering who should do genetic testing, it is worth considering various circumstances indicating the need for more thorough preventive health care. The main indications for the analysis of genetic material for mutations are:

  1. genetic diseases in the family – their occurrence means the risk of the appearance of similar mutations and, consequently, the development of a given disease in the future. The genetic burden of the test person also means the risk of passing on defective genes to the offspring.
  2. cancers in the family – if someone in the family has had cancer, the likelihood of relatives developing cancer increases. On the basis of genetic tests, such assumptions can be verified and, if necessary, preventive measures or early treatment can be implemented. Rapid cancer detection significantly increases the chances of winning against the disease.
  3. miscarriages in women – problems with termination of pregnancy may result from chromosomal aberrations, so it is worth examining both parents or the material from the miscarriage.
  4. problem with getting pregnant – in the case of unsuccessful attempts to get pregnant, DNA tests are helpful in determining the cause of this phenomenon.
  5. prenatal screening showing your baby’s risk of disease – if you suspect your baby is at risk of a genetic disease (Down’s, Edwards, Patau’s syndromes), a prenatal genetic test may be ordered. It is worth thinking about DNA testing when the age of the parents may affect the risk of developing a genetic mutation in a child.

Even if there are no clear indications for genetic testing, you can opt for it as a preventive measure. Based on the tests, food intolerances and allergies are also diagnosed, and a diet is planned.

  1. Also check: Genetic tests before pregnancy and diagnosis of male and female infertility

Genetic tests – how to prepare for the test?

The material tests are performed in a laboratory where you should go for a blood sample or a swab from the inside of the cheek. You do not need to fast for genetic testing. However, if you have an oral swab, you should refrain from eating, drinking, chewing gum, and smoking one to two hours before the test.

Another important issue related to genetic testing is giving informed consent to perform the test. This is due to the fact that DNA information is legally protected, as is personal data. Genetic testing prices they range from PLN 100 to nearly PLN 3 zloty. You usually have to wait for the test results from a few days to even several weeks.

What does genetic testing do?

If DNA tests show that there are specific mutations in our genetic material, it will allow us to prevent disease early. First of all, knowing what disease threatens us, we can regularly perform preventive examinations. Thanks to this, we can detect the developing disease at an early stage and increase the chances of its cure.

The results of genetic tests also allow for an appropriate modification of the lifestyle, which will allow to reduce the risk factors. An example is quitting smoking or changing your diet.

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