PharmaGen®

There are a number of factors that influence how drugs work in the body, but among the most important are our genes. Genetic predispositions affect the breakdown rate of a drug, its concentration in the blood, the effectiveness of treatment and the risk of side effects. If you take medicines regularly and yet your condition is not improving or you are experiencing side effects, you may be one of the more than 30% of people whose genetic makeup means they metabolise drugs differently than the general population.

Genetic predispositions can lead to altered rates of metabolism and/or different effectiveness of drugs, which means they can cause serious side effects or be completely ineffective. Knowledge of these predispositions will enable the selection of the right drug at the right dose or the right combination of drugs for a particular patient, thus significantly speeding up the deployment of appropriate treatment and increasing its effectiveness.

The PharmaGen® test detects variants in the CYP2C19 and CYP2D6 genes which metabolize more than one-third of the available drugs used primarily in the fields of psychiatry, neurology and internal medicine. These gene variants are responsible for slower or faster breakdown of drugs, leading to an increased risk of side effects or, conversely, a lack of effectiveness of the drug. The result of the genetic analysis is often decisive in choosing the appropriate treatment. 

LIMITATIONS OF THE PHARMAGEN® TEST

The test covers only the CYP2D6 and CYP2C19 genes and only the alleles listed on the first page of the test report. Variants that are not detected are assigned as the reference allele (*1, or *1 or *2 for CYP2D6). The method does not detect rare or hybrid CYP2D6 alleles (e.g. *13, *36).

Other clinically significant pharmacogenes were not tested, including CYP2C9 (NSAIDs, phenytoin, warfarin), CYP2B6(methadone), CYP3A5 (tacrolimus), SLCO1B1 (statins), DPYD (fluoropyrimidines), TPMT and NUDT15 (thiopurines), HLA-B and HLA-A (carbamazepine, oxcarbazepine, phenytoin, abacavir, allopurinol), VKORC1 (warfarin), G6PD and POLG (valproate). A drug listed in black in the report, or not listed at all, has therefore not been “verified” from a genetic perspective.

The phenotype is derived from the genotype. Actual enzyme activity may be altered by concomitant medication (phenoconversion), age, liver and kidney function, smoking and alcohol. The result does not replace clinical assessment or therapeutic drug monitoring.

IMPORTANT NOTICE FOR SELF-PAYING CLIENTS

• The result is not an instruction to change your treatment. Do not stop taking any medication, change its dose or add other medication, including enzyme inhibitors, without consulting your doctor.
• Show the report to the doctor who prescribes your medication, and also whenever a new medication is started (to both your doctor and your pharmacist).
• Your genotype does not change during your lifetime, but drug recommendations evolve. Check the current recommendations before starting any new medication.
• Our clinical geneticist will explain your result to you. You can book a consultation by calling 800 390 390(included in the price of the test).