Genetic Counseling

scientist holding gene modelWhat is Genetic Counseling?

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 integrates:

  • 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.

What is a Genetic Counselor?

Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. The American Board of Genetic Counseling certifies genetic counselors through board exams and accredits genetic counseling training programs. The National Society of Genetic Counselors is the professional membership association.

Who should be referred for genetic counseling?

It is important to remember that there are many different cancer syndromes. The types of cancer and ages of onset of cancer observed in the patient and their family are what determine which genes should be tested. In general, if a person is diagnosed with cancer before the age of 50, diagnosed with a rare cancer or multiple primary cancer, and/or has an unusual amount of cancer in their family which cannot be explained by exposure or advanced age, a referral to a genetic counselor is indicated.

The most common cancers seen for genetic evaluation are breast, ovarian, colon and uterine cancer.

An assessment for hereditary breast and ovarian cancer is indicated when the patient has a personal and/or family history of:

  • Breast or ovarian cancer before the age of 50
  • Male breast cancer
  • Ashkenazi Jewish ancestry with personal and/or family history of breast or ovarian cancer
  • 3 or more breast cancers, any age
  • Bilateral breast cancer
  • 2 or more ovarian cancers, or breast and ovarian cancer
  • Known mutation in ANY family member

An assessment for hereditary colorectal cancer is indicated when the patient has a personal and/or family history of:

  • Colorectal or endometrial cancer before the age of 50
  • 2 or more colorectal, endometrial, ovarian, gastric or urinary tract cancers
  • Multiple colorectal polyps

What is the benefit of genetic counseling and testing?

In many cases, patients overestimate their cancer risk. Genetic counseling can help put their risk into perspective and provide them with appropriate screening and prevention guidelines to discuss with their physicians.

Genetic testing may identify a family at substantially increased risk to develop cancer. Specialized screening methods, more frequent screening and cancer prevention methods have been shown to improve survival rates.

Does insurance pay for genetic testing?

YES, most insurance plans do pay for genetic testing when medically indicated. Each insurance company (including Medicare) has a personal/family history criteria which must be met to obtain approval. Many labs also have a charity care program for low income, uninsured patients.

What about insurance discrimination?

The Genetic Information Nondiscrimination Act of 2008 (GINA) is a federal law designed to prohibit the improper use of genetic information. GINA prohibits group health plans and health insurers from denying coverage or charging that person higher premiums based solely on a genetic predisposition to developing a disease in the future. The legislation also bars employers from using an individual's genetic information when making hiring, firing, job placement or promotion decisions. This law does not protect against life insurance discrimination.

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