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Cancer Genetics Risk Assessment and Counseling (PDQ®): Genetics - Health Professional Information [NCI] - The Option of Genetic Testing

Table 1. Clinical Utility of Genetic/Genomic Testsa continued...

More specific information about family functioning in coping with hereditary cancers can be found in the psychosocial or counseling sections of PDQ summaries on the genetics of specific types of cancer. (Refer to the PDQ summaries on Genetics of Breast and Ovarian Cancer and Genetics of Colorectal Cancer for more information.)

Exploration of potential risks, benefits, burdens, and limitations of genetic susceptibility testing

There is substantial evidence that many people do not understand the potential limitations of genetic testing and may give too much weight to the potential benefits.[83,84,85] Counseling provides the opportunity to present a balanced view of the potential risks and benefits of testing and to correct misconceptions. It may be helpful to ask individuals to identify their perceptions about the pros and cons of testing as part of this discussion.

  1. Potential burdens of a test result that is uninformative or of uncertain significance.

    In the absence of a known mutation in the family, a negative test result is not informative. In this situation, the tested person's risk status remains the same as it was prior to testing. One study of 183 women with an uninformative BRCA test result found that most women understood the implications of the test result, and it did not alter their intention to undergo a high-risk screening regimen.[86,87] If the test identifies a new mutation of unknown clinical significance, the test result is of uncertain significance and cannot be used to revise the tested person's risk estimate. Subsequent research, however, may provide information about the mutation's effect (or lack of effect) on cancer risk.

    Potential burdens

    • Need to evaluate other family members to determine the significance of mutations not known to be disease related.
    • Persistent uncertainty about risk status, which may result in a recommendation for intensive monitoring if a hereditary predisposition cannot be ruled out with certainty.
    • Lack of evidence-based guidance regarding prevention or surveillance strategies.
    • Continuing anxiety, frustration, and other adverse psychological sequelae associated with uncertainty because no definitive answer has been provided.
    • High monetary cost of testing.
  2. Potential benefits and burdens of a positive test in an unaffected, at-risk individual when a disease-related mutation has been previously identified in the family.

    Potential benefits

    • Elimination of uncertainty about inherited susceptibility for an individual.
    • Potential for reduction in future morbidity and mortality through enhanced cancer risk management strategies (i.e., increased screening, adoption of a healthy lifestyle, and avoidance of risk factors).
    • Opportunity to reduce cancer risk through chemoprevention and risk-reducing surgery.
    • Opportunity to inform relatives about the likelihood that they have the family mutation and about the availability of genetic testing, cancer risk assessment, and management services.

    Potential burdens

    • Neglect of screening and surveillance resulting from increased anxiety about being a mutation carrier.
    • Psychological distress, including anxiety, depression, reduced self-esteem.
    • Increased worry about cancer due to unproven effectiveness of current interventions to reduce risk.
    • Risks and costs of increased screening or prophylaxis.
    • Strained/altered relationships within family.
    • Guilt about possible transmission of genetic risk to children.
    • Potential insurance, employment, or social discrimination.
  3. Potential benefits and burdens of a negative test result when a disease-related mutation has been identified in the family.

    Potential benefits

    • Reassurance and reduction of anxiety about personal cancer risk due to heredity.
    • Avoidance of unnecessary intensive monitoring and prevention strategies.
    • Avoidance of aggressive interventions such as risk-reducing surgery.
    • Relief that children are not at increased risk.

    Potential burdens

    • Neglect of routine surveillance resulting from misunderstanding of a negative test result. The patient remains at the general population risk and may be at increased risk depending on his or her personal risk factors and any risk associated with the other branch of the family.
    • Adjustment to the change in expected life course.
    • Survivor guilt.
    • Strained relationship with others in family.
    • Regret over previous decisions (e.g., having had risk-reducing surgery prior to being tested).
  4. Potential benefits and burdens of a positive test result in an individual who is the first identified mutation carrier in a family.[3]

    Potential benefits

    • No need to rely on other family members for informative test results.
    • Potential for risk reduction in future morbidity and mortality through enhanced cancer risk management strategies (i.e., increased screening and surveillance, chemoprevention, and risk-reducing surgery).
    • Opportunity to inform relatives about the likelihood that they have the family mutation and about the availability of genetic testing, cancer risk assessment, and management services.

    Potential burdens

    • Confronting ethical dilemmas about who should receive the information, what should be conveyed, and when it should be conveyed to specific family members.
    • Coping with potential personal distress in conveying the information.
    • Coping with family members' potential distress and reaction to the information.
    • Feeling unprepared for the tasks associated with disseminating genetic information through the family.
    • Loss of privacy.
    • Coping with potential personal psychological distress and reaction to the information.
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WebMD Public Information from the National Cancer Institute

Last Updated: February 25, 2014
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.
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