Pretest Counseling Recommendations

Patients will likely ask several questions when you suggest that they are candidates for hereditary genetic and genomic testing. Pretest counseling is an opportunity to facilitate your patient’s informed decision-making about undergoing testing. Even if you plan to refer the patient to a specialist for testing, it can be helpful to discuss the general benefits, risks, and limitations of testing, as clear communication at this stage can ease adaptation to results later. 

Key Points to Address During Pretest Counseling

  • Benefits and limitations of genetic/genomic testing (see below)
  • Potential role of testing for other family members
    • For predictive testing, the importance of testing an affected family member first
    • Testing other family members maybe needed to fully interpret test results
  • Explanation of possible results: positive, negative, variants of uncertain clinical significance, and secondary or unexpected results
    • How such results would be interpreted based on the patient’s family and medical history
    • Follow-up testing plan if initial results are negative (if applicable)
  • Potential medical, reproductive, and psychosocial implications of genetic test results, including implications for relatives
  • Management options without genetic test results compared to recommendations associated with potential test results
  • Practical aspects of genetic testing, such as cost, need for insurance preauthorization, and turnaround time
  • Legal and social implications, such as privacy concerns and qualifying for life insurance
  • Timing of and plan for disclosure of results in the post-test counseling session

See theAccessing Genetic Services Tool for helping finding genetic experts and communicating with patients about a referral.

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
  • Possibility of a moderate-penetrance gene or variant without established management guidelines
  • 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).


Reviewed August 2022