Genetic test – When is it useful?

Definition – What is a genetic test?

Genetic tests play an increasingly important role in today’s medicine, as they can be used as diagnostic tools and for therapy planning of many diseases. In a genetic test, the genetic material of a person is analyzed to find out whether hereditary diseases or other genetic defects are present. For example, it is possible to have a person examined to determine whether he or she is more likely to develop Alzheimer’s or has a genetic risk for certain types of tumor.

A genetic examination can therefore reveal diseases that are already present and thus confirm a suspicion, or show an increased risk for specific diseases. In the latter case, however, the disease does not necessarily occur in every gene carrier. Nowadays, genetic tests are particularly popular during pregnancy in the growing child, in order to detect possible diseases or disabilities in advance.

When should I perform a genetic test?

In principle, there are two medically relevant types of reasons for having genetic tests performed: diagnostic genetic tests: Here, already existing congenital diseases or genetic defects and their causes are to be identified, and one’s own descent is to be determined either in a paternity test or on the origin of different ethnic groups. One example of this is cystic fibrosis, which is initially suspected and can then be confirmed in a genetic test. Furthermore, genetic tests can be carried out for certain human systems in the context of medical diseases or therapies in order to plan a therapy.

The genetic tests in advance can provide indications of a possible response to therapy or a susceptibility to certain problems in treatment. Predictive genetic tests: The probability of the occurrence of a certain disease in the course of life in a (still) healthy person should be predicted. For family planning purposes, the probability of inheritance of various disease characteristics to the offspring can also be predicted in the case of known family diseases during genetic counselling.

Especially in cancer diagnostics, various genetic factors can be identified which indicate that a certain cancer disease such as colon or breast cancer is more likely to occur.

• Diagnostic genetic tests: Here, already existing congenital diseases or genetic defects and their causes are to be identified, and one’s own ancestry is to be determined, either in a paternity test or on the origin of different ethnic groups. One example of this is cystic fibrosis, which is initially suspected and can then be confirmed in a genetic test.

  Furthermore, genetic tests can be carried out for certain human systems in the context of medical diseases or therapies in order to plan a therapy. The genetic tests in advance can provide indications of a possible response to therapy or a susceptibility to certain problems in treatment.

• Predictive genetic testing: The probability of the occurrence of a certain disease in the course of life in a (still) healthy person should be predicted. For family planning purposes, the probability of inheritance of various disease characteristics to the offspring can also be predicted in the case of known family diseases within the framework of genetic counselling. Especially in cancer diagnostics, various genetic factors can be identified which indicate that a certain cancer disease such as colon or breast cancer is more likely to occur.