Informed Consent & Pretest 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 pretest 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 Genetic and Genomic Testing

Potential benefits

  • Diagnose or identify the cause of an individual’s symptoms
  • End search for a diagnosis 
  • If predictive testing, provide more precise estimates of lifetime risk for disease
  • Inform personalized management and treatment 
  • Enable identification of at-risk relatives
  • Identify recurrence risk and inform reproductive decision-making

Potential limitations/risks

  • Possibility of uncertain variants or unanticipated results
  • Possibility of a false negative or not coming to a diagnosis; may not identify all possible pathogenic variants (mutations)
  • If predictive testing, not all patients with a pathogenic variant will go on to develop the disease
  • 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

For a discussion guide on the Genetic Information Nondiscrimination Act (GINA), see Genetic Information Nondiscrimination Act (GINA).

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.

 

Updated April 2019