Pharmacogenetic analysis detects genetic changes that influence the efficacy of drugs. If genetic variants affect proteins responsible for the metabolization of substances, their tolerability and efficacy can be severely altered. These drugs include antidepressants, painkillers, neuroleptics, chemotherapeutics, AIDS drugs, thrombosis drugs, anesthetics, beta-blockers, or statins.
A specific enzyme’s reduced activity can lead to increased drug levels at the standard dosage, which is not infrequently accompanied by undesirable side effects. In the case of pharmaceuticals that are only activated by metabolization, the therapeutic effect may be absent altogether. Similarly, increased enzyme activity, due to the resulting increased drug degradation rate, leads to insufficient efficacy of the therapy.
The pharmacogenetics option analyzes known variants in twenty-two genes involved in drug metabolism. If certain gene variants are detected, the treating physician can adjust the therapy individually. With the help of pharmacogenetic analysis, serious side effects can be minimized, and treatment failure can be avoided.
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General Information
Pharmacogenetics analysis can be selected as an additional option for NGS-based germline studies or as a single analysis. In both cases, genes (see below) involved in the metabolism of drugs are examined. Based on the results, we create a patient’s pharmacogenetic profile and can provide recommendations for individual drug dosage.
You can find more information about the separate pharmacogenetics analysis on our module for Drug Metabolization.
Sample Report
Pharmacogenetics (PGX) (22 genes)
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