From the Guidelines
Pharmacogenetic testing is currently regulated in a limited and fragmented manner in the United States. The FDA has oversight of some pharmacogenetic tests as medical devices, particularly those sold as test kits directly to consumers or laboratories 1. However, many pharmacogenetic tests are developed and used within individual laboratories as laboratory-developed tests (LDTs), which have historically operated under a policy of enforcement discretion by the FDA. These LDTs are primarily regulated by the Centers for Medicare and Medicaid Services (CMS) under the Clinical Laboratory Improvement Amendments (CLIA), which focuses on laboratory quality standards rather than test validity 1.
Some of the key challenges and inconsistencies in the regulation of pharmacogenetic testing include:
- Variability in test validation and clinical utility evidence requirements across different tests and laboratories
- Inconsistent quality standards across different pharmacogenetic tests
- Limited oversight of LDTs by the FDA, with primary regulation by CMS under CLIA
- Additional regulations implemented by some states, such as New York and California, which may create further inconsistencies
Healthcare providers should be aware that while pharmacogenetic testing can provide valuable information for medication selection and dosing, the level of regulatory scrutiny these tests have undergone varies significantly, which may impact their reliability and clinical utility in practice 1. The Clinical Pharmacogenetics Implementation Consortium (CPIC) has developed peer-reviewed guidelines for pharmacogenetic testing based on evidence from randomized controlled trials and other clinical studies, but these guidelines do not recommend whether a test should be ordered, only how to translate genetic test results into actionable prescribing decisions 1.
From the FDA Drug Label
The provided drug labels do not directly address the regulation of pharmacogenetic testing.
The FDA drug label does not answer the question.
From the Research
Current Regulation of Pharmacogenetic Testing
- The current regulation of pharmacogenetic testing is not fully established, with various guidelines and recommendations in place 2, 3.
- The US Food and Drug Administration (FDA) is interested in incorporating pharmacogenetics into development activities to protect and promote public health 3.
- Clinical practice guidelines recommend biomarker tests that have demonstrated clinical utility, but the degree of consistency within and between organizations in pharmacogenetic testing recommendations is limited 2.
Pharmacogenetic Testing Recommendations
- Few clinical practice guidelines provide pharmacogenetic testing recommendations, but some gene-drug pairs have well-established testing recommendations, such as HLA-B*57:01 before initiation of abacavir and G6PD before initiation of rasburicase 2.
- Testing recommendations for other gene-drug pairs, such as CYP2C19-clopidogrel and CYP2D6-codeine, are often inconsistent between organizations and sometimes inconsistent between different guidelines from the same organization 2.
Barriers to Regulation
- The lack of robust evidence demonstrating clinical utility is a significant barrier to the regulation of pharmacogenetic testing 4.
- The success of pharmacogenetic testing depends on the physician's ability to understand the obtained results in a standardized way for each particular patient 5.
- Future efforts should be directed toward addressing these issues and considering additional approaches to generating evidence to support clinical use of pharmacogenetic tests 4.