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?

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Genetics may play a role in response to most drugs, but pharmacogenomic tests are only available for some drugs. To find out whether any genes are known to impact response to a specific drug, you can search the PharmGKB database.

This rich pharmacogenomics knowledge-base has been curated by experts in the field and is THE trusted go-to source of information concerning the genetic basis of drug response. It is 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

 
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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

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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


Pharmacogenomic tests every prescriber should know about

There are some pharmacogenomic tests that can help predict the occurrence of serious, life-threatening adverse drug reactions. These are tests that every provider should know about before prescribing these drugs.

 
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Insurance coverage policies for pharmacogenomics

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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

Anthem Coverage Policy

Aetna Coverage Policy

Aetna Coverage Policy

Humana Coverage Policy

Humana Coverage Policy

UHC Coverage Policy

UHC Coverage Policy

Cigna Coverage Policy

Cigna Coverage Policy

 

Choosing a pharmacogenomic test partner

With dozens of laboratories offering PGx testing, selecting the right partner to work with can be challenging. The following resources can help guide you to the right laboratory.

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

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.

Genetic Testing Registry

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 broad pharmacogenomic panel tests covering a large number of drugs currently on the market.

A comparison of comprehensive pharmacogenomic tests

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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. 

Links to sample pharmacogenomic test reports from different labs

One consideration for selecting a PGx partner is the ease of use of their lab report. Reports usually bin the drugs according to recommended clinical actions. “Red” drugs are typically those that should be avoided or used with great caution. “Yellow” drugs are a mixed bag of drugs with less evidence of pharmacogenomic effect, or with variants that have less of an effect on drug response. “Green” drugs are those for which pharmacogenomic test results do not change prescribing behavior. Below you will find sample PGx test reports from each of the major PGx testing labs.

 
Admera Test Report

Admera Test Report

Kailos Test Report

Kailos Test Report

Phosphorus Test Report

Phosphorus Test Report

GeneDX Test Report

GeneDX Test Report

OneOme Test Report

OneOme Test Report

 

23andMe is offering pharmacogenomic testing, but is it any good?

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23andMe has recently received FDA clearance to offer pharmacogenetic testing to its customers. The test covers a total of 33 variants from eight pharmacogenes. How does the 23andMe product stack up against commercially available PGx tests? Is the 23andMe product any good?

View the blog post now!

Talking PGx with your patients

The following sample conversations will facilitate explaining pharmacogenomic testing to your patients.

 
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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. In this online short course (~2 hrs), we’ll cover the following:

Molecular basis of drug response  

Get a grasp on the concepts and vocabulary of pharmacogenomics to feel more confident when discussing testing with your colleagues or patients. Learn about genetic differences in drug metabolism; how common rapid or poor metabolizers are; what factors besides genetic variation impacts drug metabolism.

 Pharmacogenomic information in the drug label 

The drug label is a go-to source for prescribing a medication, but it’s not always easy to make sense of pharmacogenomic information in the drug label. Learn what information you can and can’t get from the drug label.

Clinical validity and utility of pharmacogenomics tests 

There are many pharmacogenomic tests available, but it’s not always clear whether they are any good. Learn about the organizations that evaluate specific genes, the strength of evidence and recommendations to changes to prescribing behavior. Familiarize yourself with tools that you can access to evaluate specific pharmacogenomic tests for their validity and utility.

Paying for pharmacogenomics 

Lack of insurance coverage can be a deterrent for ordering a pharmacogenomic test. Knowing why certain tests are covered can help you make informed choices about the value of testing in your patients. This section discusses cost-effectiveness studies and reviews tests already covered by insurance.

Which patients are candidates for pharmacogenomic testing 

Pharmacogenomic testing may not be right for everybody, but being able to recognize which patients might benefit is the first step toward improving medication responses. We’ll walk through various case studies, identifying major categories of patients who could benefit from pharmacogenomic testing. 

Choosing a pharmacogenomics laboratory and test 

With so many laboratories and tests available, the decision about which one to use can be overwhelming. We’ll break down the key factors on which to judge a pharmacogenomic test, review sample test reports from major labs and learn how to navigate the results.

If you want to learn to implementing pharmacogenomic testing in the clinic, join us as we break down the key factors on which to judge a pharmacogenomic test, review sample test reports from major labs and learn how to navigate the results.