The goal of the field of medical genetics is to detect and treat individuals with genetic disorders. There are numerous single gene and chromosome disorders, but genetics also contributes to common diseases such as cardiovascular disease, cancer, and diabetes. Genetic counseling is the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. This process, as defined by the National Society of Genetic Counselors’ Task Force, integrates the following

  • Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
  • Education about inheritance, testing, management, prevention, resources, and research
  • Counseling to promote informed choices and adaptation to the risk or condition

Genetic diseases due to single gene defects, sometimes referred to as Mendelian disorders, are grouped ...

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