Genetic Physician Consultation
A genetic physician consultation is a process during which patients and their families receive support in understanding the role of genetics in diseases, as well as the medical, psychological, and familial implications involved. The core principle of the consultation is a personalized approach tailored to the needs of the patient and their family.
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• Active listening and empathy:Carefully listening to the questions and concerns of patients and their families, providing clear explanations, and offering emotional support.
• Diagnosis and information gathering: Collecting medical information from the patient and family, identifying potential hereditary conditions, and assessing genetic risks.
• Clear explanations and scientific accuracy: Answering questions based on scientific evidence and explaining medical and reproductive options.
• Support and adaptation: Assisting patients and their families in coping with the condition, adaptation, and decision-making processes.
• Decision-making support: Helping patients make informed choices and providing guidance during the implementation of medical and reproductive decisions.
An essential part of genetic consultation is the collection of genetic information, for which building a family pedigree is the most effective tool. Family members across up to 3–4 generations are evaluated. The following information is collected:
• Ethnic background and family traditions
• Medical history, including infant mortality, stillbirths, and miscarriages (which may be associated with chromosomal abnormalities)
• If the patient is a child, assessment of possible parental consanguinity
• Even in cases of dominantly inherited conditions, family history from both the maternal and paternal sides is collected
Genetic counseling plays a crucial role in decision-making related to reproductive and diagnostic genetic testing. We assist patients in selecting appropriate tests; however, responsibility for final decisions remains with the patient.
Genetic counseling should be viewed not only as a process of information delivery, but also as a supportive process that facilitates understanding and informed decision-making.