Geneticist

When to consult a geneticist?

An appointment with a geneticist should be made when:

 

• patient has a heavy family history (genetic diseases are suspected or diagnosed in the family)
• a mutation (harmful genetic variant) that increases the risk of disease has been detected in any family member 
• the patient's course or suspected disease indicates a genetic background
• efforts to have a child end in failure
• A geneticist can help in the case of:
• genetic diseases,
• recurrent miscarriages, difficulties in getting pregnant, male infertility,
• genetic risk of developing cancer,
• suspected genetic disease in the fetus,
• diseases of the digestive system (e.g., lactose intolerance, pancreatitis, polyposis of the intestine, celiac disease),
• metabolic diseases (e.g. phenylketonuria, galactosemia, hypercholesterolemia, diabetes, obesity),
• hematological diseases.

A visit to a geneticist should be considered in the process of genetic diagnosis of the cause of diseases or abnormalities in the human body. During the visit, it will be possible to determine whether the disease is hereditary, discuss the risk of getting the disease in the future or the risk of medical problems in children.
Keep in mind that the absence of a loaded family history does not exclude the possibility of a mutation, i.e. a harmful genetic variant that can cause a disease or increase the risk of developing it, such as cancer or metabolic diseases. A result indicating the presence of such a mutation should be consulted with a clinical geneticist.
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Talking to a geneticist

Visits to a geneticist are different from regular medical consultations. The conversation with the doctor is based on a deep, specialized family history. It involves a thorough drawing of the pedigree, that is, creating a diagram of the family tree and marking as many family members with various diseases as possible. On this basis, the clinical geneticist determines whether there is a risk that any of the diseases in the family are hereditary, and, if necessary, refers for genetic testing or consultation with other specialists. It is important to prepare well for the visit:

• Gather information about your family's medical history (who, at what age and what they contracted the disease). If possible, talk to distant family members - they can provide valuable information. 
• If you have one, take your medical history with you, along with descriptions of previous consultations, test results or hospital discharge cards.
• If you have one, take with you the results of previous genetic tests, even if they are negative, i.e. no harmful genetic variant was detected.

The visit lasts 40 minutes.
Thanks to the rapid development of genetics, we can efficiently and accurately diagnose many diseases. Based on the results of genetic testing, the doctor can recommend consultation with other specialists, appropriate treatment, preventive or dietary management, lifestyle changes by, for example, avoiding certain behaviors and food products in favor of others. In some cases, implementing small changes to daily routine can help significantly reduce the risk of the disease. In addition, thanks to genetics, it is easier to decide on drug treatment and diagnostic procedures, which in turn can detect the disease early enough.
According to international standards, consultation of a geneticist is recommended in connection with any genetic test.

Preparation for consultation with a geneticist

When coming to the appointment, the patient should bring:

• full medical records, including results of previous tests,
• results of previous consultations,
• discharge cards from hospitals, etc.

If imaging studies have been performed, such as a magnetic resonance imaging of the head, you should provide not only a description of the study, but also the original images recorded on a CD or available on another medium.
If the medical problem also affects other family members, the medical records of these individuals should be provided. Before the visit, it is a good idea to write down whether there are relatives with similar symptoms or people with other serious illnesses in the closer or more distant family.
Unless the patient has been advised otherwise, it is not necessary to come to the appointment on an empty stomach. Most genetic diagnostic tests can be performed without fasting blood draws. Genetic tests are safe and and, for the vast majority, there are no contraindications to performing them.