Pharmacogenetics - The future of drug therapy

Our genetics influence the efficacy and safety of medications

Genetic differences among patients are mostly not taken into account in today’s one-size-fits-all approach to medication therapy.

Therefore, it is common for a medication to have the desired therapeutic effect in one patient, while in another patient, it may lead to treatment failure or unwanted side effects.

%

of people over 65 years old

in Germany take five or more medications daily (polypharmacy) ²

%

of the population

have at least one genetic variant that influences the effect of medication ¹

PHARMA • CO • GENETICS

Effect of medications • taking into account • genetic characteristics

What is pharmacogenetics?

Pharmacogenetics (PGx) studies the influence of different genetic variants of a patient on the metabolism of medications. An accelerated or slowed metabolism can reduce efficacy or increase the risk of side effects.

How do genes affect the effect of drugs?

In the human body, enzymes, transport proteins, and receptors regulate the absorption, distribution, and elimination of medications. Genetic traits influence the quantity and function of these molecular functional proteins, as well as the associated speed at which medications take effect and are metabolized.

Since when has pharmacogenetics existed?

The term pharmacogenetics was coined in 1959 by Friedrich Vogel, who laid the foundation for a new field of researchand personalized medication.

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What is studied in pharmacogenetics?

A pharmacogenetic test examines selected genes for variants that influence the metabolism of specific medications.

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Pharmacogenetics Enables Personalized Medication

Clinical Relevance

For which medical indications does pharmacogenetics play a role?

Pharmacogenetics plays an important role in a variety of indications. The PGXperts system includes evidence-based data on 152 medications that are influenced by genetics (Gene-Drug Pair) and can be used for various indications.

Grafik_Häufigkeit_Gene_und_Indikationen_DE_Indikationen_PA02

Personalize Medication

How does PGx help the attending physician?

The results of a patient’s pharmacogenetic test can be used to individually adjust the selection and dosage of medication. In this way, risks can be avoided even before a drug is taken and side effects that have already occurred can be identified and reduced. This complements existing diagnostic procedures as a decision-making aid and follows the approach of personalized medicine.

Metabolization Types

What types of metabolization are there?

Pharmacogenetics distinguishes between several metabolism types to describe a patient’s metabolism rate for a specific medication. If a medication is metabolized too quickly, the drug concentration in the blood may be too low, causing the standard dosage to fail to achieve the desired therapeutic effect. Conversely, reduced metabolism can lead to overdosing and side effects.

The slow metabolization (poor metabolizer) leads to an excessive concentration of the active substance and can subsequently cause serious side effects.

In the case of intermediate metabolizers (intermediate metabolizer) the duration of action is prolonged, and side effects are more likely.

In normal metabolizers (extensive metabolizers), the drug concentration is within the therapeutic window with expected efficacy over a longer period of time.

Ultrafast metabolizers (ultrarapid metabolizers) break down an active substance too quickly, which can lead to treatment failure.

Five steps to your PGxProfile

How does personalized medication work?

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1. Explanation Meeting

The patient is informed by the attending physician about the procedure and the costs of a pharmacogenetic test.

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2. Commissioning

The physicians obtains the patient’s consent, draws blood or saliva and orders a pharmacogenetic test.

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3. PGxProfile creation

An accredited laboratory conducts the pharmacogenetic analysis and generates the patient’s PGxProfile.

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4. Decision support

The physician receives the PGxProfile and imports it into a clinical decision support system.

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5. Personalize medication

The physician informs the patient about the results and adjusts the choice and dosage of the medication in a personalized manner.

Personalized Medication Offers Numerous Benefits

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Increased therapeutic success

Increased response rate and reduced risk of adverse drug reactions



Reduction of costs

Reduction in direct and indirect treatment costs



Early detection

Identifying risks with complex medication before treatment

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Lifelong benefits for patients

One-time examination for patients & lifelong benefit from personalized medication



Relief for medical professionals

Fewer hospital admissions and doctor visits due to side effects and medication errors

PGXperts

End-to-end Solutions for Personalized Medication

Pharmacogenetics holds enormous potential for the drug therapy of the future. In order to effectively transfer scientific findings into medical practice, end-to-end solutions are needed that integrate seamlessly into existing processes and provide immediately applicable information. PGXperts develops innovative systems adapted to the requirements of different users.

For Hospitals

PGXperts PRiM

For Physicians

InteractionCheck

For Laboratories

PGx Interpretation

For Hospitals

PGXperts PRiM

For Physicians

InteractionCheck

For Laboratories

PGx Interpretation

How long has pharmacogenetics existed?

Genetic differences

Natural changes in the DNA sequence, known as polymorphisms, are passed down from parents to offspring. These genetic variants can affect gene function (genotype) and alter both physical traits such as eye and hair color, as well as biological processes (phenotypes).

History of pharmacogenetics

Pharmacogenetics investigates how genetic differences influence the effect of drugs. Its origins lie in the 1950s, when genetic variations in drug processing were discovered. The term was coined in 1959 by Friedrich Vogel, who laid the foundations for a new field of research. The decoding of the genome in 2003 was a milestone for personalized medicine. Technological advances and reduced costs in gene analysis and data processing now make it possible to incorporate evidence-based research findings into decisions on drug treatment.

What is studied in pharmacogenetics?

Investigation of SNPs

A pharmacogenetic test is conducted using DNA, which can be obtained from either a blood or saliva sample. Specific regions of the DNA are examined for genetic variations known as SNPs (single nucleotide polymorphisms). Only those SNPs are analyzed for which extensive studies provide strong evidence regarding their impact on the metabolism of specific medications.

Focus on CYP450 enzymes

The metabolism of most medications is catalyzed by enzymes of the cytochrome P450 (CYP) system. Differences in the function of these CYP450 enzymes are the reason why, at the same dosage, the intensity and duration of effects and side effects can vary greatly from patient to patient. From a clinical point of view, CYP2B6, CYP2D6, CYP2C19, CYP2C9, CYP3A4 and CYP3A5 are particularly relevant, as they metabolize between 70 and 90% of the drugs used *.