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Centres of Excellence -> Individualized & Preventive Medicine -> Genetic counseling

Genetic counseling

What is genetic counseling? 

Genetic counseling is a specialized medical service where a physician helps patients determine if genetic testing is needed and understand the results for themselves or their family members. At St. Catherine Specialty Hospital, genetic counseling plays a key role in personalized medicine, assisting patients and their families in making informed health decisions with minimal psychological and emotional stress.

What does genetic counseling include?

Genetic counseling is provided both before and after genetic testing and includes:

  • a detailed review of personal and family medical history
  • assessment of the need for genetic testing based on medical indications
  • evaluation of the potential benefits and limitations of test results for the patient and family members
  • recommendations for testing specific mutations in individual genes (gene panels) or whole genome analysis in cases of complex conditions involving multiple organ systems
  • explanation of genetic test results and their significance for the health of the patient and their family
  • support for patients in making informed decisions regarding further diagnostic and therapeutic procedures, as well as preventive measures

· assessment of the need for testing other family members

Who should consider genetic counseling? 

Genetic counseling is recommended for:

  • individuals with close family members affected by various types of cancer, sudden cardiac death, cardiovascular and metabolic disorders, or rare genetic (hereditary) diseases
  • couples planning a pregnancy, especially if there is a suspicion of genetic (hereditary) disorders in the family
  • couples where there is a suspicion of consanguinity (blood relation)
  • individuals suspected of having hereditary multifactorial or polygenic diseases

· patients with unclear diagnostic findings where a genetic cause is suspected

How is genetic counseling conducted at St. Catherine? 

Counseling sessions last up to 45 minutes. At St. Catherine Specialty Hospital, genetic counseling is provided by physicians with extensive experience in the diagnosis and treatment of rare genetic (hereditary) diseases. After testing, patients may request counseling regardless of the test results, even if no pathogenic mutations are detected. Our goal is to provide patients with accurate and reliable information to help them make the best decisions for their health and the health of their loved ones.

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