What is it about ?
Every cell in a living organism contains genetic material made up of DNA. This DNA makes it possible to study genes that play an important role in certain conditions. This patient guide deals with genetic testing in medicine.
In which cases is a genetic test carried out?
Confirmation of the diagnosis of a rare disease
Some conditions are transmissible by heredity, that is, a specific gene is responsible for the disease.
If the doctor suspects an inherited disease based on a characteristic presentation, targeted genetic testing may be done to confirm the diagnosis. This approach avoids the patient having to undergo heavier examinations. If the diagnosis is confirmed, this test can be used to check whether family members carry the same gene. It is also useful in case of possible pregnancy to diagnose the fetus.
Identification of a possible diagnosis based on multi-gene panel tests
It is not always clear which gene is responsible for certain conditions, but it is possible to suspect which genetic abnormalities cause the disease. In this case, we do a test on several genes which are all responsible for the same symptoms. This is called multi-gene panel testing. Since several genes are studied at the same time, these tests are more efficient and less expensive than different tests carried out separately. Multi-gene panel tests can also reveal other abnormalities, independent of the initial request for a genetic test. When considering having a multigene test, it is important to realize that unexpected information about possible future conditions can sometimes be surprising. So discuss with your doctor beforehand how much you want to know about this.
Identification of an unknown cause by genome testing
This is an even more thorough test of all human genetic material, which also requires discussion with the doctor about possible other observations (see above).
As the information from the genetic test can have a huge impact on the health outlook of the affected person (including their family and children), it is very important to have an interview on this subject before deciding to do these tests. or not. To the question ‘Should I take this test or not?’, There is no clear answer. For a certain person, being aware of a possible hereditary condition can be overwhelming, while for another, it is precisely the lack of information that can be worrying. Genetic testing is strongly recommended if early diagnosis can influence disease progression.
If future parents want to request a fetal genetic test, we must act quickly. To perform targeted testing, it is necessary to identify the mutation process within a family. This procedure takes time, so it is best to clarify these issues as early as possible during pregnancy. Once again, the ethical choice must be privileged over the objective feasibility of genetic tests on fetuses.
Genetic testing and data protection
The results of genetic tests are strictly personal and confidential. Discuss beforehand the possibility of sharing this information with family members and relatives.
Where are genetic tests performed?
We deal with the diagnosis of rare diseases and genetic counseling families in specialized care centers and, in general, in university hospitals. It is better not to use genetic tests available on the internet: it is difficult to know if these tests are reliable or not.
If family members of a person with a genetic disease want to know more for themselves, the general practitioner will refer them to an approved center instead.
For a person already tested, the general practitioner can analyze the patient’s result on a case-by-case basis, and qualify the indicated risk.
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