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Genetic Counseling

colonoscopy, upper endoscopy, polyps, risksIf the colonoscopy or upper endoscopy shows polyps - clear explanation of the risks and benefits of genetic testing is performed by the team. Considerations in these children include:

  1. Discussion on the implications of medical insurability and discrimination.
  2. Discussion of the meaning and limitations of both positive and negative testing.
  3. The actual procedure for testing - blood sample or buccal swab.
  4. Discussion with the parents on the possible psychological impact of testing.

A family history of polyposis that required a colectomy as well as a history of colon cancer in individuals younger than 50 years generally indicates an increased risk for polyposis. A more detailed family history for other cancers, particularly thyroid, breast and genitourinary adenocarcinoma, may provide important clues to an underlying polyposis syndrome. The absence of a family history, however, does not rule out the possibility of a genetic syndrome. In fact, as many as 20 percent of patients with familial adenomatous polyposis have no family history.

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