What are the next steps after receiving abnormal test results?

Next Steps After Receiving Abnormal Test Results

Always review abnormal test results first with the patient before discussing with family members or other parties, and develop a clear action plan that addresses both the clinical implications and the patient's understanding of the results. 1

Immediate Actions Upon Receiving Abnormal Results

1. Verify and Confirm the Result

• Review the result with the patient first to determine whether something other than the suspected condition may explain the observed findings, as false-positive results are possible across all testing modalities 1
• Consider both laboratory results and clinical history before assessing the likelihood of disease and presenting information to others 1
• Discuss unexpected results with the laboratory or toxicologist to clarify technical aspects before patient discussion 1
• For equivocal results (values between limit of blank and limit of detection), label them as such and perform repeated or orthogonal testing to confirm 1

2. Patient Communication Strategy

• Inform the patient that the test gave unexpected results and ask for more information before making definitive conclusions 1
• Tailor disclosure to the patient's level of comprehension, using everyday, jargon-free language with written or pictorial information as appropriate 1
• Explain the limited scope of information available from the specific test performed and what it does and does not tell you 1

Developing the Action Plan

For Positive/Abnormal Results

• Determine if confirmatory testing is needed: If the initial test was a screening test or point-of-care test, consider whether confirmatory testing with a more specific method (e.g., gas or liquid chromatography/mass spectrometry) is warranted 1
• If the patient's history matches the test results, confirmatory testing may reasonably be omitted to reduce costs 1
• If results remain unexplained after discussion, confirmatory testing should be performed before making major clinical decisions 1

Clinical Decision-Making Framework

Next steps should include one or more of the following based on the specific abnormality:

• Change in management strategy appropriate to the condition detected 1
• Ongoing monitoring with repeat testing at specified intervals 1
• Referral to specialist for further evaluation or treatment 1
• Additional diagnostic testing to clarify the significance of results or identify related abnormalities 1

For Genetic/Molecular Test Results

• Pathogenic and likely pathogenic variants should be listed in the main report with clear clinical implications 1
• Variants of uncertain significance should only be reported with appropriate genetic counseling and clear communication about the uncertainty 1
• If germline variants are suspected (based on variant allele fraction), recommend genetic counseling and germline testing 1
• Establish a process for patient follow-up regarding questions that may arise later, as interpretation may change with new evidence 1

Special Considerations for Negative Results

A negative test result does not exclude the possibility of disease and should not dismiss ongoing clinical symptoms. 1

• Consider whether the test was appropriate for the clinical question (e.g., wrong timing, wrong substance panel, missed window of detection) 1
• If clinical suspicion remains high despite negative results, consider repeat testing with different methodology, different specimen type, or expanded test panel 1
• Refer for more in-depth evaluation when behavioral, mental health, or physical symptoms persist despite negative testing 1

Documentation Requirements

• Document the specific test performed, including methodology, limitations, and number of cells/samples analyzed 1
• Include interpretation that relates findings to the clinical question and provides differential diagnosis where appropriate 1
• State clearly whether clinically significant abnormality was detected using unambiguous language (avoid terms like "positive/negative" for complex results) 1
• Provide recommendations for follow-up testing or clinical actions based on the results 1

Critical Pitfalls to Avoid

• Never dismiss patients from care based solely on test results, as this constitutes patient abandonment and compromises safety 1
• Do not share results without appropriate consent, particularly in adolescents or when genetic implications affect family members 1
• Avoid making treatment recommendations in the report itself; instead, disclose actionable findings and evidence-based associations, leaving treatment decisions to the treating physician or multidisciplinary team 1
• Do not test for substances or conditions where results would not affect patient management or where clinical implications are unclear 1
• Never use terms like "wildtype" or "absence of mutation" for negative results when tumor fraction estimation is not included, as presence below the limit of detection cannot be excluded 1

Follow-Up Timing and Monitoring

• For urgent clinical situations (e.g., acute conditions requiring immediate intervention), results should drive rapid clinical action within 24-48 hours 1
• For routine follow-up, establish a monitoring schedule appropriate to the condition and risk level 1
• Re-interpret findings regularly as new phenotypic information emerges and research knowledge evolves 1