In response to the growing use of pharmacogenomic testing, the Association for Molecular Pathology (AMP) has issued recommendations for best practices in the field. The recommendations are based on guidelines developed by the Clinical Pharmacogenetics Implementation Consortium (CPIC), an international organization focused on facilitating the use of such tests for patient care.
Pharmacogenomic testing provides information based on a patient’s genetic makeup to predict the likelihood of beneficial or adverse reactions to medications. The information can be used to choose medication and dosing levels. Test results can enable the treating physician to choose the most effective drug, for example, or to avoid drugs for which the patient has a high risk of toxicity or adverse reactions.1
The field of pharmacogenomics is steadily growing, and FDA has approved the inclusion of pharmacogenomic information in the labels of hundreds of medications.2 The growth of pharmacogenomic testing means that laboratory professionals must be able to translate genetic laboratory results when communicating them to the healthcare providers who ultimately make the prescribing decisions for patient care.
AMP has endorsed CPIC’s term standardization for clinical pharmacogenetics test results project, and encourages the use of CPIC’s gene-drug clinical practice guidelines. The detailed guidelines are peer-reviewed and evidence-based. Building on CPIC’s efforts, an AMP working group determined that clinically meaningful pharmacogenomic tests can improve patient care and professional practice—provided certain conditions are met. AMP recommends the following best practices for clinical laboratories providing pharmacogenomic tests:
- All health-related pharmacogenomic claims must have well-established clinical validity. The drug-gene association must be robust and supported by strong scientific evidence in the peer-reviewed literature and in the FDA-approved drug label, or in clinical practice guidelines such as those created by CPIC.
- The pharmacogenomic testing provider must comply with the Clinical Laboratory Improvement Amendments of 1988 (CLIA) statute and regulations, as required for all other clinical laboratory tests. This means the provider must have documented analytical validity, a robust quality management system, and appropriately licensed or credentialed laboratory personnel. Tests must be verified under the supervision of—and interpreted and reported by—board-certified molecular laboratory professionals. Additionally, as required by CLIA, details regarding analytical methodology, validity, and quality should be readily available to healthcare providers upon request.
- The pharmacogenomic test report should be comprehensible by healthcare providers without medical genetics or pharmacogenomics training, and should include the interpretation of the findings, the significance of the results, and the limitations of the test. Pharmacogenomic testing provides the greatest clinical benefit to patients when the healthcare provider is easily able to determine when an actionable prescribing change or treatment decision is indicated by a patient’s genotype. This includes information regarding the test’s interpretation in the report that is required or recommended by federal agencies and accrediting organizations.
- Patients should not change their treatment plan without first talking to their healthcare provider. Patients currently may have direct access to their laboratory test results. Any result of a pharmacogenomic test should be discussed with the patient’s healthcare provider to determine whether changes to the patient’s medication plan are recommended.
For more information, visit the Association for Molecular Pathology.
- Pharmacogenomics: overview of the genomics and targeted therapy group [online]. Silver Spring, Md: Center for Drug Evaluation and Research, FDA, 2018. Available at: www.fda.gov/drugs/science-research-drugs/pharmacogenomics-overview-genomics-and-targeted-therapy-group. Accessed November 4, 2019.
- Table of pharmacogenomic biomarkers in drug labeling [online]. Silver Spring, Md: Center for Drug Evaluation and Research, FDA, 2019. Available at: www.fda.gov/drugs/science-research-drugs/table-pharmacogenomic-biomarkers-drug-labeling. Accessed November 4, 2019.