What is Pharmacogenomics?
Pharmacogenomics (PGx) studies the association between genetic variants and drug metabolism and has many advantages for the field of precision medicine. Some genetic variations can cause individuals to metabolize drugs more slowly or quickly, which can affect the effectiveness of the medication and increase the risk of side effects. Adoption of PGx in clinical and diagnostic environments is continuing to gain traction as knowledgebases and novel genetic insights continue to improve.
How drugs metabolize in the body
1. Metabolism: Some genes code for enzymes that metabolize drugs in the body. Genetic variations in these enzymes can affect the rate at which drugs are metabolized, which can impact the effectiveness of medication and increase the risk of side effects.
2. Transport: Genes can also code for proteins that transport drugs across cell membranes. Genetic variations in these proteins can affect the amount of drugs that get into cells, which can impact the effectiveness of medication.
3. Receptors: Some genes code for receptors that drugs bind to in order to exert their effects. Genetic variations in these receptors can affect the way drugs bind and interact with the body, which can impact the effectiveness of medication and the risk of side effects.
4. Inflammation: Genes are involved in inflammatory responses, which can affect the way drugs act in the body.
Tolerance: Genetic variations can also affect the development of tolerance to certain drugs, particularly in the case of opioids, alcohol, and some psychostimulants.
5. Interactions: Some genetic variations can also affect the way drugs interact with other drugs, food, or supplements, which can impact the effectiveness of medication and increase the risk of side effects.
Accurate or Not accurate: pharmacogenetic genetic tests
Pharmacogenetic genetic tests are generally considered to be accurate, but the accuracy of a test can depend on several factors, such as the specific test being used, the quality of the laboratory performing the test, and the population being tested.
Test accuracy: Different pharmacogenetic tests have different levels of accuracy. Some tests are more accurate than others, and the accuracy of a test can depend on the specific genetic variant being tested.
Laboratory quality: The quality of the laboratory performing the test is also important. Labs that are accredited by the College of American Pathologists (CAP) or the Clinical Laboratory Improvement Amendments (CLIA) are considered to have high standards for quality.
Population: The population being tested can also affect the accuracy of a test. Some genetic variations are more common in certain populations than others, and the accuracy of a test may vary depending on the population being tested.
Interpretation: The interpretation of the results of the test is also important. Some genetic variations have a well-established relationship with drug response and some have not. Therefore, healthcare providers should be familiar with the latest guidelines and the level of evidence behind the test they are ordering.
Validation: It’s also important to keep in mind that not all pharmacogenetics tests have been validated in large clinical studies, which means that the clinical utility of some tests may be uncertain.
Interpreting pharmacogenomics with Geneyx
The Geneyx PGx workflow offers comprehensive interpretations for 13 CPIC level A/B and PharmgKB level 1/2 genes that affect the metabolism of 68 commonly prescribed drugs. This information is consolidated from multiple annotation sources, including Clinical Pharmacogenomic Implementation Consortium (CPIC), Food and Drug Administration (FDA), and the Pharmacogenomics Knowledge Base (PharmGKB). For every gene reported there are also useful hyperlinks to these databases, all of which are automatically pulled into the report.
The Geneyx PGx report includes detailed patient and drug information that is easy to comprehend and fully customizable. Genes can be easily excluded from the report if they have low quality or missing SNPs and final modifications to the report can be performed in the report editor with electronic signature sign off. In more detail, the report will display the gene name, genotype, and the impact of the genetic changes on drug metabolism. This is combined with gene descriptions that explain the gene’s function, its association with drug metabolism, and the effect of gene changes on therapeutic effectiveness.
Together, the Geneyx Pharmacogenomics workflow gives users powerful insights to mitigate potentially adverse drug reactions and metabolic responses by harnessing key databases and unique genetic profiles. If affiliated with a clinical or diagnostic company and are interested in providing PGx reports to patients, please schedule a meeting to see the Geneyx PGx workflow in real time.
