Medical and genetic consultation

Medical and genetic consultation is a communication between a patient and a geneticist, aimed at clarifying the genetic cause of the disease and preventing hereditary diseases in the family of the applicant.

Often, medical and genetic counseling is performed by married couples or a full family. As a rule, the presence of family members at the consultation increases its effectiveness, because it allows you to collect a more accurate family history and analyze the phenotype of all those present.

What does the consultation of a geneticist include?

• assessment of the patient's phenotype (identification of features of the appearance and analysis of the results of various laboratory and instrumental methods of examination).
• compilation and analysis of the patient's pedigree.
• the purpose of genetic diagnosis (according to indications).
• interpretation and explanation of the obtained results of genetic diagnostics in a form accessible to the patient.
• calculation of the probability of the patient's birth of children with hereditary pathology.
• discussion with the applicant of modern methods of treatment of the detected pathology or measures to prevent the development of the disease in the patient and in other members of his family.
• making a genetic conclusion with practical recommendations.

DO NOT DELAY YOUR VISIT TO THE GENETICIST,

perhaps in your case, it will help to establish an accurate diagnosis, and therefore determine the prognosis and methods of effective treatment

How do I prepare for a consultation?

In order for your communication with the doctor to be informative:

1. Prepare and take all medical documents with you to the appointment, including:

• statements
• blood tests, urine tests, etc.
• histological conclusions
• expert advice

2. Ask your parents in advance how your childhood went, how your mother's pregnancy went, what infections you suffered, how you grew up and developed.

3. Also, before the reception, it is necessary to remember or learn about the health status of relatives:

• what did you get sick with, from what age
• if they died, at what age and what is the cause of death
• if available, take their statements or other medical documents with you

Remember: the more information you provide to your doctor, the more likely you are to find out the genetic cause of your disease!