Genetic Counseling

In medical science, reaching a definitive diagnosis is very important for predicting the course and outcomes of a disease and for planning appropriate treatment. However, reaching a definitive diagnosis can be a difficult process, and in some cases a conclusive result may not be obtained.

Today, rapid advances in genetic technologies offer the possibility of definitive diagnosis for many diseases. In addition to this crucial contribution to disease diagnosis, genetic science can also determine the risks carried by other family members and outline a roadmap for reducing these risks to minimal levels in future generations. In this process, Genetic Counseling, aided by rapidly advancing genetic diagnostic methods, has become one of the most important components of preventive medicine.

Genetic counseling involves providing information about the diagnostic tests used to identify individuals with a hereditary disease or carrier risk, the course of the disease, recurrence risks, its compatibility with life, the financial and emotional burden the affected individual may place on the family, and, if available, its treatment and other solutions. In this process, the Genetic Counselor should only provide information and should not direct the patient's decision.

The Medical Genetic Counselor should first inform the patient and family about the existing disease, and should provide support and guidance to help them adapt to situations that may arise later. After the information is conveyed, the person receiving counseling should be able to make an independent decision.

While the internet and other communication tools facilitate access to information, they can also create issues of misinformation and reliability in the field of medical genetics. To access sound and accurate information, it is recommended to receive Genetic Counseling from a specialist physician.

When Should Genetic Counseling Be Obtained?

• Congenital anomalies, intellectual disability, neural tube defects, cleft lip or palate problems, and miscarriages with anomalies
• Need for prenatal diagnosis due to advanced maternal age (35 years and older) or other reasons
• Recurrent pregnancy loss (miscarriages)
• Infertility
• Consanguineous marriages
• Carrier status for a balanced chromosomal translocation in one of the spouses
• Detection of a genetic disease and/or carrier status in the individual or their relatives (such as Down Syndrome, Cystic Fibrosis, Fragile X syndrome, Rett syndrome)
• Cases found positive on newborn screening and routine premarital tests (such as Phenylketonuria, Thalassemia)
• Certain diseases that manifest at an advanced age (such as Huntington's disease)
• Certain cancers (breast, colon, lung, thyroid, etc.)
• Alcohol consumption during pregnancy
• Treatments received before or during pregnancy
• Exposure to radiation during pregnancy (X-ray, CT scan)
• Occupational exposure to certain chemicals or radiation