What is Pharmacogenetics?

In our body, a highly complex enzyme system is responsible for how our body is metabolizing the active ingredients of medicines. Minimal genetic mutations in enzymes can significantly affect the response to a drug. This is the reason why the same drug often works very differently from person to people. The consequences are under- or overdoses of active ingredients and thus a lack of therapeutic success or side effects.
Pharmacogenetics addresses exactly these genetic mutations influencing the response to drugs. The aim is to identify the different ways in which human enzymes function and to predict the individual response to drug substances.
This is why only 30% of patients actually have the desired drug effect and over 25% of patients experience side effects.

What is being tested?

 

In a pharmacogenetic test, individual base pairs are analyzed and checked for genetic mutations, which in technical terms are referred to as SNPs (= single nucleotide polymorphisms, pronounced “snips”). These are not uncommon (in over 90% of humans) and not always detrimental, but among other things determine the activity of enzymes (phenotype). Depending on the type and number of mutations, drug components are metabolized faster or slower. In order to avoid over- or underdosing, the dosage must be adjusted accordingly.

What information do I receive?

The benefits of pharmacogenetics are easily explained: The more accurate the dosage of a drug, the better the success of the therapy and the less the side effects due to overdoses or drug interactions!

As additional information to the traditional prescription (age, body weight, constitution, lifestyle and gender as well as kidney and liver function), the knowledge of the individual phenotype provides information on whether the dosage of a drug should be adjusted or whether it should be changed to an alternative active ingredient.

 

One distinguishes between four such phenotypes:

Poor metabolizer: no activity of the enzyme. Risk of side effects due to high concentration of active ingredients in the blood, alternative medicines should be used. For prodrugs, the drug can not be activated, so there is no effect.

Intermediate Metabolizer: reduced activity of the enzyme. Dosage of medication should be adjusted.

Extensive (Normal) Metabolizer: normal activity of the enzyme. Dosage of drugs (and prodrugs) may be prescribed according to the approval.

Ultra-Rapid Metabolizer: very high activity of the enzyme. If the drug is broken down by the corresponding enzyme, this leads to a lower concentration of active ingredient in the blood and there is a risk that the drug is not or not enough. Alternative medicines should be used. Beware of prodrugs that are too strongly activated in this phenotype.

Medical fields

The consideration of individually different reactions to medication is generally recommended for every medical specialty. The use of pharmacogenetic analyzes for drugs of the following categories is particularly valuable:

  • analgesics / antirheumatics (analgesics)
  • antibiotics / antivirals / antimycotics (treatment of infectious diseases)
  • antidiabetic
  • antihypertensives (treatment of high blood pressure)
  • anticoagulants (blood thinners)
  • cytostatic drugs (chemotherapy)
  • proton pump inhibitor (stomach protection)
  • psychotropic drugs / antidepressants
  • statins (cholesterol-lowering drugs)
  • urologicals