Geneticist

A geneticist should be visited when:

• the patient has a family history of certain diseases (genetic diseases or those associated with genetic abnormalities)
• a genetic mutation, which increases the risk, is found in one of the family members
• the course or suspicion of the disease indicates that it has a genetic background

A geneticist can provide help in the case of the following:

• genetic diseases,
• recurrent miscarriages, difficulties in getting pregnant, male infertility,
• genetic risk of cancer,
• suspected genetic disease in the foetus,
• diseases of the digestive system (e.g. lactose intolerance, pancreatitis, intestinal polyposis and celiac disease),
• metabolic diseases (e.g. obesity and hypercholesterolaemia),
• hematologic diseases.

A visit to a geneticist should be considered in the process of giving a diagnosis of the genetic cause of diseases or abnormalities in the human body. During the visit, it is possible to determine the risk of future diseases or the possibility of medical issues in the offspring.

It should be kept in mind that the fact that family members did not suffer from a certain disease does not exclude the possibility of an abnormal genetic mutation that may increase the risk of, for example, cancer or metabolic diseases. You should consult your doctor if you have any indication of such a mutation.

If you want to find a specialist who speaks a foreign language, please read the information provided in the doctor’s profile. Just click on the name of the specialist in the list of schedules above and move to a more detailed description of the doctor, which includes information about foreign languages. If in the doctor’s profile there is no information about additional languages, it means that they speak only Polish.

Conversation with a geneticist

Visits to a geneticist differ from regular medical consultations. The conversation with the doctor involves taking in-depth family history. It includes drawing of a pedigree chart (family tree), i.e. a tree of possible genetic mutations in different family members. The patient should be well prepared for the visit. In particular, they have to prepare their medical history.

The visit lasts 40 minutes.

Thanks to fast development of genetics, we can quickly and accurately diagnose many diseases. On the basis of genetic tests, the doctor can recommend appropriate prevention measures or diet, as well as tell the patient to change their lifestyle and avoid certain behaviours and food products. Often the introduction of small changes in the daily routine can help significantly reduce the risk of disease. In addition, genetics makes it easier to make decisions about pharmacological treatment and diagnostic procedures, which in turn makes it possible to detect the disease early enough.

According to international standards, a consultation with a geneticist is recommended in connection with each genetic test.

Preparation for a consultation with a geneticist

The patient should bring the following documents for the visit:

• full medical records, including the results of previous examinations/tests,
• results of previous consultations,
• hospital discharge reports, etc.

If a diagnostic imaging examination was performed, e.g. head MRI, not only a description of the examination should be provided, but also original images recorded on a CD or available on other data carrier.

If the medical problem occurs also in other family members, medical records of these members should be provided. Before the visit, it is worth writing down whether in the close or distant family there are relatives with similar symptoms or other serious diseases.

Unless the patient has not been instructed otherwise, fasting is not required before the visit. Most genetic diagnostic tests do not require the patient to fast before a blood sample is taken. Often tests are performed using a saliva sample. Genetic tests are safe and there are no contraindications to perform them.