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Cancer Genetics Risk Assessment and Counseling (PDQ®): Genetics - Health Professional Information [NCI] - Education and Counseling About Risk / Risk Communication

Specific clinical programs for risk management may be offered to persons with an increased genetic risk of cancer. These programs may differ from those offered to persons of average risk in several ways: screening may be initiated at an earlier age or involve shorter screening intervals; screening strategies not in routine use, such as screening for ovarian cancer, may be offered; and interventions to reduce cancer risk, such as risk-reducing surgery, may be offered. Current recommendations are summarized in the PDQ summaries addressing the genetics of specific cancers.

The goal of genetic education and counseling is to help individuals understand their personal risk status, their options for cancer risk management, and to explore feelings regarding their personal risk status. Counseling focuses on obtaining and giving information, promoting autonomous decision making, and facilitating informed consent if genetic testing is pursued.

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Optimally, education and counseling about cancer risk includes providing the following information:

  • Purpose, strengths, and limitations of cancer risk assessment.
  • Basic genetics and patterns of inheritance.
  • Genetic basis of cancer.
  • Clinical features of relevant hereditary cancer syndromes.
  • Evidence of a hereditary cancer syndrome from the consultand's personal and family history.
  • Options for clarifying cancer risk, including genetic testing, if indicated.
  • Options available for risk management, including data (or lack of data) on the efficacy of different measures for early detection and risk reduction.
  • Signs and symptoms of cancer.

When a clinically valid genetic test is available, education and counseling for genetic testing typically includes the following:

  • Risk of having a mutation and patterns of transmission.
  • Alternatives to genetic testing.
  • Risks, benefits and limitations of genetic testing, including psychological and discriminatory risks.
  • Possible test outcomes, including likelihood of uninformative results and identifying variants of uncertain significance.
  • Sensitivity of the genetic test, including the techniques utilized to perform the test and their associated limitations.
  • Health care management options based on possible test results.
  • Implications for children and other family members based on pattern of transmission.
  • Dissemination of risk and genetic information to family members.
  • Cost associated with testing, counseling, medical management, and options for insurance coverage.
  • How genetic information and genetic test results will be recorded in the medical record.
  • Specimen storage and reuse, if applicable.
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