Pharmacogenomic Resources
The following resources are useful for healthcare providers to facilitate implementation of pharmacogenomic testing in clinical care.
Which drugs are impacted by genetic variation?
Genetics may play a role in response to most drugs, but pharmacogenomic tests are only available for some drugs. PharmGKB is an expertly curated knowledgebase used for both research and clinical purposes. On the clinical side, it pulls together in one place excerpts from the FDA drug labels with PGx information and genotype-specific dosing guidelines from CPIC.
Clinical validity and utility of pharmacogenetic tests
Not all pharmacogenomic tests are backed by strong evidence of clinical validity or utility. The Clinical Pharmacogenetics Implementation Consortium (CPIC®) is a trusted source of information about the clinical validity and utility of pharmacogenomic tests. CPIC compiles evidence of clinical validity from PharmGKB and evidence that test results will alter prescribing behavior.
Managing patients after pharmacogenomic testing
Management guidelines for pharmacogenomics can be found in several places. CPIC creates, curates, and posts freely available, peer-reviewed, evidence-based gene/drug clinical practice guidelines.
Medical Genetics Summaries is another resource for clinicians who seek practical, evidence-based information to use in clinical care settings. The summaries are guideline-driven, drawn from authoritative sources, undergo a formal review process, and are regularly updated
Insurance coverage policies for pharmacogenomics
A review of the pharmacogenomics coverage policies from five major insurance companies found limited coverage of pharmacogenomic tests. Some companies didn’t address coverage of these tests (-), while others had clear coverage (✓) or didn’t cover (NO). Even among those companies that covered a specific pharmacogenomic test, there were caveats. Most require that the patient is being considered for treatment (i.e. would not be covered in the context of preemptive testing) and some specify ethnicity requirements.
This table summarizes the pharmacogenomic tests covered by five major insurance companies and below are links to those policies.
Anthem Coverage Policy
Aetna Coverage Policy
Humana Coverage Policy
UHC Coverage Policy
Cigna Coverage Policy
Finding a PGx testing laboratory
Dozens of labs offer dozens of tests for pharmacogenomics. Here are two searchable databases to help locate a pharmacogenomic test and laboratory.
Concert Genetics manually curates information about genetic testing labs and their products. Concert’s genetic test finder allows clinicians to search a comprehensive catalog of all genetic tests on the market, comparing across key test details, like which genes are on a panel, to determine which test makes the most sense for each patient.
GTR is a genetic testing database managed by the US National Institutes of Health. It provides a central location for voluntary submission of genetic test information by genetic test providers. The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials.
Major labs offering comprehensive PGx panel tests
Many laboratories offer pharmacogenomic tests that cover a broad range of prescription drugs. These tests are affordable and increasingly being used as a screening test in healthy individuals who wish to have their pharmacogenomic information available in their medical record preemptively.
Below are some examples of available PGx tests on the market.
A comparison of comprehensive pharmacogenomic tests
Several factors go into selecting a PGx gene panel test including which genes are on the panel, the scope of variants detected, as well as cost, insurance reimbursement, turn-around-time, ease of use of the report, integration of results into the EHR and other factors.
In this white paper, we dig into commercially available comprehensive PGx tests and compare and evaluate the clinical validity of the genes analyzed.
Current regulatory landscape for PGx tests
Recent (2019) movement by the FDA to regulate pharmacogenomic tests has resulted in significant changes to the products currently on the market. Many labs have been forced to modify their products, including the information included on their reports, while they seek FDA approval. In March 2020, we hosted a Stakeholder Summit to address FDA regulation of pharmacogenomics.
Learn more in our online course
Pharmacogenomics in Practice was designed to educate lay professional audiences with no genetics background about implementing pharmacogenomic testing in the clinic.