Genetic Screening and Counseling

Two scientists in a lab

Genetic counseling is generally recommended before any genetic testing for a hereditary cancer syndrome and may also be performed after the test, especially if a positive result is found and a person needs to learn more about the hereditary cancer predisposition syndrome they have been found to have. This counseling should be performed by a trained genetic counselor or other health care professional who is experienced in cancer genetics.

Genetic counseling usually covers many aspects of the testing process, including:

  • A hereditary cancer risk assessment based on an individual’s personal and family medical history
  • Discussion of:
    • The appropriateness of genetic testing and potential harms and benefits of testing
    • The medical implications of positive, negative, and uncertain test results
    • The possibility that a test result might not be informative (that is, it might find a variant whose effect on cancer risk is not known)
    • The psychological risks and benefits of genetic test results
    • The risk of passing a variant to children
    • The impact of testing for the family
    • The best test to perform
  • Explanation of the specific test(s) that might be used and the technical accuracy of the test(s) and their interpretation

Genetic counseling may also include discussing recommendations for preventive care and screening with the patient, referring the patient to support groups and other information resources, and providing emotional support to the person receiving the results.

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