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Test results for healthcare professional

Pharmacogenetics

One medicine at the same dose does not suit everyone equally – an effective dose for some may not produce therapeutic effects for others, may cause serious side effects, or even be life-threatening. Up to 20% of ambulatory patients experience adverse reactions to medications, and 10-20% of hospitalized patients experience at least one adverse reaction during hospitalization.

Pharmacogenetics DNA panel enables the investigation of a patient’s personalized genetic profile, allowing appropriate medications to be determined at the right dosage, thereby increasing the likelihood of successful treatment while reducing the risk of dangerous side effects or ineffective treatment.

PURPOSES OF PHARMACOGENETICS
  • Defining genetic variants influencing the effects of drugs in the organism and elucidating the relationships between genes and drug responses.
  • Preventing serious drug side effects and drug interactions.
  • Developing an optimal treatment plan based on the patient’s unique genetic information.
  • Replacing common drug choices and trial-and-error treatment plans.
  • Reducing overall healthcare costs.
  • Conducting simultaneous examination of multiple genes is faster and more cost-effective than studying individual genes separately.
WHY IS IT NECESSARY TO KNOW A PATIENT'S PHARMACOGENETIC PROFILE?

1. Knowing the patient’s pharmacogenetic profile allows the physician to promptly and specifically prescribe the appropriate medication at a customized dosage.

Patient response to treatment should be considered across all medical specialties. The use of pharmacogenetic analyses is particularly valuable for the following medications:

  • Antidepressants and other psychotropic drugs;
  • Analgesics/rheumatoid drugs;
  • Anticoagulants;
  • Antibiotics, antiviral, and antifungal drugs;
  • Diabetes medications;
  • Antihypertensive drugs;
  • Cytostatics;
  • Proton pump inhibitors.

2. The quality of treatment improves, and treatment costs decrease.

3. Among pharmacogenetically tested patients, the following are observed:

  • Greater likelihood of symptom relief compared to conventional treatment;
  • Significantly better rates of treatment response and tolerability;
  • Shorter hospitalization time;
  • Lower treatment costs.

4. Among pharmacogenetically tested patients who concurrently use multiple medications, the following are observed:

  • Reduced need for hospitalization;
  • Reduced doctor visits.
PHARMACOGENETICS DIVIDES PEOPLE INTO 5 ACTIVITY GROUPS

Polymorphisms found in pharmacogenes cause deficient, decreased, normal, or increased enzymatic activity. Based on this, people can be divided into five activity groups (phenotypes).

WHAT IS INSIDE PHARMACOGENETICS DNA PANEL?

The panel comprises 29 genes associated with the metabolism of over 200 drug compounds.

Gene Function
ABCB1 Codes for P-glycoprotein, which is an essential cellular membrane transport protein. P-glycoprotein controls the entry of compounds into the cell throughout the body, thereby affecting drug concentrations.
ABCB2 Codes for a cell membrane protein that transports several molecules, including drugs, across the membrane. ABCG2 partially transports the same drugs as P-glycoprotein.
ALDH2 Codes for mitochondrial aldehyde dehydrogenase, which oxidizes aldehydes into their corresponding carboxylic acids.
BCHE Codes for nonspecific butyrylcholinesterase, which hydrolyzes various choline-based esters.
CACNA1S Codes for the dihydropyridine receptor alpha1S subunit, expressed in the sarcoplasmic reticulum of muscle cells, activating the RYR1 calcium channel membrane during depolarization in contractile myocytes.
CYP1A2 Hepatic enzyme involved in the metabolism of several drugs, caffeine, and procarcinogens.
CYP2B6 Hepatic enzyme responsible for the metabolism of HIV and cancer drugs, as well as bupropion.
CYP2C
rs12777823		 Genetic variant associated with lower doses of warfarin.
CYP2C19 Hepatic enzyme mediating the metabolism of various important drugs, including psychotropic drugs, proton pump inhibitors, and anticoagulants.
CYP2C8 Hepatic enzyme involved in the metabolism of several drugs, including antidiabetic drugs, statins, analgesics, and cancer drugs.
CYP2C9 Hepatic enzyme involved in the metabolism of several drugs, including warfarin and phenytoin.
CYP2D6 Hepatic enzyme mediating the metabolism of approximately 20-25% of drugs in use, including antidepressants, antipsychotics, and analgesics.
CYP3A4 Hepatic enzyme mediating the metabolism of 30-50% of drugs in use.
CYP3A5 Hepatic enzyme involved in the metabolism of several drugs, with tacrolimus being particularly significant.
CYP4F2 Mediates the metabolism of various endogenous substrates and xenobiotics. Genotype information may be useful, for example, in predicting warfarin dosage.
DPYD Codes for dihydropyrimidine dehydrogenase, which catabolizes fluoropyrimidines used as chemotherapeutics for various types of cancer.
F2 Codes for prothrombin, a key enzyme in the coagulation cascade. Mutations in the prothrombin gene predispose to thrombosis.
F5 Codes for coagulation factor V. Mutation in the F5 gene (known as the Leiden mutation) is the most common hereditary mutation causing thrombosis.
G6PD Codes for glucose-6-phosphate dehydrogenase, which protects red blood cells from oxidative stress.
GRIK4 Codes for the kainate receptor (a subtype of glutamate receptor), contributing to glutamatergic signaling.
IFNL3 Codes for interferon lambda 3, triggered during viral infections. Variants of this gene help assess the effectiveness of hepatitis C treatment.
MTHFR Codes for methylenetetrahydrofolate reductase enzyme, critical in folate metabolism, influencing methylation and DNA synthesis pathways.
NAT2 Acetylates and neutralizes various xenobiotics. It partially activates and generates certain carcinogens, the activity of which may be associated with cancer risk (e.g., prostate or colorectal cancer).
NFIB Codes for a transcription factor expressed in various tissues, located on the short arm of chromosome 9. Copy number variants in this region lead to the development of MACID syndrome (macrocephaly and intellectual developmental disorders), and intragenic variants of this gene have been associated with clozapine metabolism.
NUDT15 Codes for nudix hydrolase enzyme, which converts metabolites of thiopurine drugs into less cytotoxic forms.
SLCO1B1 Codes for OATP1B1 protein, facilitating the uptake of statins from plasma into the liver.
TPMT Codes for thiopurine S-methyltransferase, responsible for the metabolism of thiopurine drugs.
UGT1A1 Codes for UDP-glucuronosyltransferase 1-1 enzyme, responsible for the metabolism of certain drugs (e.g., anticancer drugs) and bilirubin elimination.
VKORC1 Involved in the activation of coagulation factors and has hereditary forms that directly affect warfarin dosing.
TEST METHOD AND RESULTS

Pharmacogenetic analysis does not require specific pre-analytics or special sampling procedures. During the routine procedure of venous blood collection, the patient donates a sample. Oral mucosal swab is also a suitable material for testing. The sample is then transported to the laboratory, where the analysis begins.

As result of that, a detailed report is generated, which includes not only gene-specific results but also a comprehensive overview of medications with dosage recommendations, as well as a summary of the tested genes and predicted phenotypes. The report can be viewed in Estonian, English, Finnish, French, German, Swedish, and Dutch.

Sampling → DNA extraction → OpenArray and CNV analysis → Interpretation

Genotype raw data is organized by genes. Several medical specialists are responsible for the accuracy and currency of the information. Report includes:

List and Classification of Medications

The genes included in the panel are associated with the metabolism of over 200 drug compounds, which are related to various therapeutic areas.
Medications are grouped based on the results:

  • Medications with clinically significant genetic variations;
  • Medications with certain clinical significance genetic variations;
  • Medications with low clinical significance genetic variations;
  • Medications with no clinically significant genetic variations.

The report also separately lists heavily affected medications across different therapeutic areas along with their active ingredients and phenotypes.

See active ingredients list HERE.

Drug-Specific Recommendations Based on Scientific Databases

For each medication, there are drug-specific dosage recommendations based on scientific databases (such as CPIC, etc.). The recommendations are classified according to the safety of the medication:

Pharmacogenetic variation affects drug effectiveness or adverse reactions with significant clinical relevance. A genetic test is
recommended. Check existing test results before prescribing the drug. Check dosing and administration based on test results.

Pharmacogenetic variation affects drug effectiveness or adverse reactions with some clinical relevance. If genetic test results are
available, consider changing drug or dosing based on results. If genetic testing has not been conducted, consider ordering a test.

Pharmacogenetic variation may affect drug effectiveness or adverse reactions, but with minor clinical significance in most
patients. Monitor drug response and possible adverse reactions. If genetic test results are available, consider changing drug or
dosing based on results.

Pharmacogenetic variation does not significantly affect drug effectiveness or adverse reactions.

Check out the sample report (.pdf)

INDICATIONS, SAMPLE MATERIAL, ADDITIONAL INFORMATION

Pharmacogenetics DNA panel is indicated in the following cases:

  • Initiation of drug therapy;
  • Determination of the appropriate dosage;
  • Suspected drug effectiveness;
  • Prevention of drug side effects.

Sample material: EDTA-blood, oral mucosal swab

Storage of the sample: at room temperature for 24 hours; 2-8 °C for 5 days; longer if frozen.

Turnaround time (TAT) for results: 21 business days

Price: 315 €

HOW TO ORDER?

The Pharmacogenetic DNA panel can be ordered:

  • By a doctor for the patient electronically from the doctor's program or through a paper referral
Electronic Ordering

An electronic referral can be generated from the doctor’s program, which has previously established integration with SYNLAB through the Medipost data exchange platform. Currently, active interfaces exist with the programs Perearst2, Perearst3, LIISA, eKliinik, Watson/Winston, Ester/Heda, MIS.

The analysis can be found in SYNLAB’s list of research groups under the name “Farmakogeneetika DNA paneel” within the research group „Pärilike haiguste, riskialleelide uuringud“:

  1. Double-click on the analysis.
  2. Enter the barcode number and date and time in the appropriate fields.
  3. Depending on the program, press “Save” and “Send” or “Submit”.

The barcode entered into the program must be vertically affixed to the sample label. If your institution does not use barcodes, please enter the date and time into the doctor’s program and print out the referral directly from the program. In this case, mark the sample tube with the patient’s name as indicated on the referral.

Paper Referral Ordering

If electronic ordering is not available, a paper referral can be issued (either a computer-fillable version or a printable version). The referral must include the patient’s and requester’s information, as well as the date and time of sample collection. From the list of analyses, mark “Farmakogeneetika DNA paneel.”

The logistics of sample collection to SYNLAB’s molecular biology laboratory in Tallinn are organized by SYNLAB. If sample collection does not take place at your institution, patients can be directed to SYNLAB’s sample collection sites. Reservations for blood collection are not necessary; patients are served on a first-come, first-served basis. It is important that the order is previously entered into the doctor’s program or a referral is provided to the patient.

Once the analysis is completed, the invoice will be sent to the referring clinic. If you wish for the patient to pay for the analysis at the laboratory, please use a self-payer referral.

  • As a private customer in Estonia from My SYNLAB
  • If you are interested in ordering Pharmacogenetic DNA panel outside Estonia, please contact us via e-mail icsales@synlab.ee
SCIENTIFIC LITERATURE