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The Option of Genetic Testing

(continued)

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

Some programs use a second informed consent process prior to disclosure to the individual of his or her genetic test results. This process allows for the possibility that a person may change his or her mind about receiving test results. After the test result has been disclosed, a third informed consent discussion often occurs. This discussion concerns issues regarding sharing the genetic test result with health providers and/or interested family members, currently or in the future. Obtaining written permission to provide the test result to others in the family who are at risk can avoid vexing problems in the future should the individual not be available to release his or her results.

Core elements of informed consent

Major elements of an informed consent discussion are highlighted in the preceding discussion. The critical elements, as described in the literature,[2,46,47] include the following:

  • Elicitation and discussion of a person's expectations, beliefs, goals, and motivations.
  • Explanation of how inheritance of genetic factors may affect cancer susceptibility.
  • Clarification of a person's increased risk status.
  • Discussion of potential benefits, risks, and limitations of testing.
  • Discussion of costs and logistics of testing and follow-up.
  • Discussion of possible outcomes of testing (e.g., true positive, true negative, variant of uncertain significance, inconclusive, false positive).
  • Discussion of medical management options based on risk assessment and/or test results available for those who choose to test; for those who choose not to test, and for those who have positive, negative, or inconclusive results).
  • Data on efficacy of methods of cancer prevention and early detection.
  • Discussion of possible psychological, social, economic, and family dynamic ramifications of testing or not testing.
  • Discussion of alternatives to genetic testing (e.g., tissue banking, risk assessment without genetic testing).
  • Attainment of verbal and written informed consent or clarification of the decision to decline testing.

All individuals considering genetic testing should be informed that they have several options even after the genetic testing has been completed. They may decide to receive the results at the posttest meeting, delay result notification, or less commonly, not receive the results of testing. They should be informed that their interest in receiving results will be addressed at the beginning of the posttest meeting (see below) and that time will be available to review their concerns and thoughts on notification. It is important that individuals receive this information during the pretest counseling to ensure added comfort with the decision to decline or defer result notification even when testing results become available.

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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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