Informed consent & pre-test counseling checklist

Informed consent is an important step in the genetic testing process. In addition to being required by some state laws and laboratories, thorough pre-test counseling will save you time when you discuss genetic testing results with the patient. 

Discussion of these key points helps prepare an individual for the potential outcomes and limitations of genetic testing.

Checklist

  • Information about the test
    • Purpose of testing
    • Description of the disorder that will be tested for
    • Ability of test to detect disease
  • Potential limitations of testing
  • Potential benefits and risks of testing
    • See risks and benefits table (below)
    • Confidentiality protections
    • Genetic discrimination risks and protections
  • Potential genetic testing results
    • Negative
    • Positive
    • Variant of uncertain significance - may need parental/family testing
    • Unanticipated results
      • Non-paternity
      • Consanguinity
      • Diagnosis unrelated to patient’s presentation
  • Potential sample retention by the lab for internal research

  • Privacy protections and access to sample and genetic information

  • Cost of genetic testing and insurance preauthorization

  • Disclosure of results
    • Phone vs. in-person
    • Anticipated turn around time

Benefits, Risks and Limitations of Cancer Genetic Testing

Potential Benefits   Potential Limitations/Risks

Confirm the cause of disease

Possibility of uncertain variants or unanticipated results

Provide more precise estimates of lifetime risk for cancer

Possibility of a false negative or not coming to a diagnosis; may not identify all possible gene mutations

Enable identification of relatives who need increased surveillance

If predictive testing, not all patients with a gene mutation will go on to develop the disease

Inform reproductive decision-making

May increase anxiety

   May cause blame, guilt, or secrecy in the family
   Labels a patient with a diagnosis or specific risk, increasing concerns about discrimination

Guidelines

American Society of Clinical Oncology (2010): Policy statement update genetic and genomic testing for cancer susceptibility

National Society of Genetic Counselors (2012): Essential elements of genetic cancer risk assessment, counseling, and testing: Updated recommendations of the National Society of Genetic Counselors