PHARMACOGENETICS

PHARMACOGENETICS

Pharmacogenetics is the study of how differences in our genes affect how drugs act on our bodies and how our bodies respond to those drugs. Genetic predispositions affect the rate of metabolic processing (activation or breakdown) of a drug, its concentration in the blood, the effectiveness of treatment and the risk of side effects. Based on this knowledge, the appropriate drug can be selected for a particular patient, the appropriate dose can be determined and the risk of side effects can be minimised.

Differences in drug metabolism rates and blood levels can vary significantly from person to person based on their genetic makeup. Elevated blood levels of the drug may cause serious side effects; conversely, decreased blood levels of the drug will not have the expected effect.

Genetic analysis can identify which drugs are appropriate for a patient and which are less so, helping to determine their proper dosage and efficacy, or the appropriate combination of drugs, thereby reducing the risk of adverse effects or drug resistance. This significantly reduces the time to select the appropriate drug and makes the treatment much more effective.

PharmaGen®

The PharmaGen® test detects variants in genes that affect the metabolism of commonly used drugs, particularly in the fields of psychiatry, neurology and internal medicine. Our genetic predisposition influences the rate of drug breakdown, its concentration in the blood, the effectiveness of treatment and the risk of side effects. Simply put, genetic analysis can help you find out what medication is right for you and at what dose, and which drugs to avoid, which can significantly speed up the appropriate treatment and increase its effectiveness.

You will receive the result within 10 working days.

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7 500 Kč

Metabolism of xenobiotics

A genetic test that detects variants in genes that affect the body's ability to detoxify harmful substances. Xenobiotics are foreign chemicals and compounds that enter our bodies from the outside environment, many of which have harmful effects on our bodies. These include nicotine, ethanol, industrial chemicals, some pharmaceuticals, preservatives and many others.

Once absorbed into the blood, these substances can cause disease changes in the body (skin disease, cancer, etc.). Variants in certain genes cause the enzymes responsible for the body's ability to metabolise or break down these harmful substances to be less active, which facilitates the development of various diseases. A genetic analysis reveals what predisposition your body has to metabolise these harmful substances and is performed on a sample of blood or an oral swab. 

Gene specification: GSTT1 (del), GSTM1 (del), GSTP1 (p.I105V) genes

You will receive the result within 10 working days.

Metabolism of xenobiotics

1 000 Kč

Warfarin metabolism

A genetic test that detects the activity of an enzyme important in the metabolism of Warfarin. Warfarin is one of the drugs used to reduce blood clotting, in layman's terms to thin the blood. However, it has a narrow therapeutic range, which may lead to a higher risk of adverse complications, especially increased bleeding.

In order to set the correct dosage of this drug, it is useful to know the patient's genotype or variants in the CYP2C9 and VKORC1 genes, which affect the degradation and efficacy of warfarin. Setting the correct dose of the drug for a particular patient significantly reduces the risk of adverse effects. The analysis is performed on a sample of blood or an oral swab. 

INDICATION CRITERIA

Prior to warfarin administration

Gene specification: CYP2C9 (c.430C>T, c.1075A>C), VKORC1 (c.-1639G>A) genes

You will receive the result within 3 working days.

Warfarin metabolism

9 800 Kč

Metabolism of thiopurine drugs TPMT

A genetic test that detects the activity of an enzyme important in the metabolism of thiopurine drugs. Thiopurine drugs are immunosuppressants (drugs that suppress the function of the immune system). They are mainly used in the treatment of oncological and haemato-oncological diseases, some autoimmune diseases and in transplantation.

The enzyme TPMT (thiopurine S-methyltransferase), whose production and activity is genetically influenced, is responsible for the metabolisation and inactivation of these drugs. In people with risk gene variants, dosage adjustment is recommended so that the treatment is effective but does not put the patient at risk of toxicity. The analysis is performed on a sample of blood or an oral swab. 

INDICATION CRITERIA

Gene, specification: TPMT gene (c.238G>C, c.460G>A, c.719A>G)

You will receive the result within 3 working days.

Metabolism of thiopurine drugs TPMT

3 900 Kč

Metabolism of 5-FU

A genetic test that detects the body's ability to metabolize the anti-cancer drug 5-FU (5-fluorouracil) used in chemotherapy (cancer treatment), especially in the colon, breast, ovary, head/neck and skin.

The function of the enzyme DPD, which is affected by certain gene variants, is important for the metabolisation of this drug. When risk gene variants are detected, dosage adjustment is recommended so that the treatment is effective but does not put the patient at risk of toxicity. The analysis is performed on a sample of blood or an oral swab. 

INDICATION CRITERIA

Before the administration of 5-FLUOROURACIL.

Gene, specification: DPYD gene (c..1905+1G>A, c.1236G>A, c.1679T>G, c.2846A>T)

You will receive the result within 3 working days.

Metabolism of 5-FU

2 900 Kč

Clopidogrel metabolism (CYP2C19)

Genetic testing that detects the activity of an enzyme important for the metabolism of many drugs, especially clopidogrel, omeprazole and other "stomach" drugs, antidepressants, benzodiazepines, etc. Gene variants of this enzyme are found in up to 30% of the European population and cause slower or faster metabolisation of these drug groups, leading to reduced effectiveness of the drug or increased risk of adverse effects.

Knowing these predispositions will help reduce the risk of treatment failure. The analysis is done from a sample of blood taken or a swab from the oral cavity. 

Gene, specification: CYP2C19 gene (8 selected alleles)

You will receive the result within 10 working days.

Clopidogrel metabolism (CYP2C19)

Pharmacogenetics of statins

Statins inhibit the internal production of cholesterol in the liver, leading to a reduction in total and LDL-cholesterol levels in the blood. However, in a proportion of the population, they cause muscular side effects, particularly myopathy, which can lead to the development of rhabdomyolysis. The more common manifestation of myopathy in the form of muscle pain, weakness or fatigue is a common reason why patients stop taking the medication.

In terms of the innate predisposition of statins in the human body, the most important membrane transporter is OATP1B1, which ensures the transfer of substances into cells. It is encoded by the SLCO1B1 gene. The drug is then less effective and, in addition, it remains in the blood, where its plasma concentration rises, significantly increasing the risk of side effects. Dosage adjustment is therefore recommended for mutation carriers.

Gene, specifications: SLCO1B1 gene (c.521T>C)

You will receive the result within 10 working days.

Pharmacogenetics of statins

2 900 Kč

HOW DOES THE WHOLE PROCESS WORK?

HOW DOES THE WHOLE PROCESS WORK?

After ordering the test, you will receive an email with detailed information. A DNA sample is most often obtained through an oral swab or blood sample. You can perform the oral swab yourself in the comfort of your own home using a collection kit which will be sent to you by mail together with instructions and other documents. You can have your blood drawn at your local physician's office or at our outpatient clinic. The result of the analysis will be sent to you by e-mail or by post as agreed. In the case of a positive result, we recommend an appointment for a genetic consultation. 

Frequently Asked Questions

The time required for the laboratory examination (sample analysis) and the delivery date of the result vary according to the type and complexity of the examination. Usually it is in the order of weeks, for complex tests up to several months. The delivery date of the result is indicated in the details of each test on our website. In urgent situations, e.g. for a woman with a newly diagnosed breast or ovarian tumour before surgery, the oncopanel cancer test is performed in STATIM mode and the result is available within 3-4 weeks, whereas in normal mode it takes up to 6 months.
Health insurance always covers genetic consultations recommended by the attending physician (usually a general practitioner, paediatrician, oncologist, gynaecologist or other specialist). During the consultation, a clinical geneticist will assess whether the indication criteria for testing for the predisposition genes are met; if so, the entire genetic test, including laboratory analysis of the sample and subsequent consultation with the geneticist/doctor, is covered by health insurance. If the criteria for the genetic testing are not met, the patient can pay for the selected/recommended test as a self-payment.
After making an appointment, you will come to our office where you will first fill out a personal and family history questionnaire, or you can download it from here on our website and fill it out in advance, in the comfort of your own home. Remember to bring it with you afterwards. This is followed by a consultation with a doctor who will compile your three-generation family tree and decide on the indication for laboratory genetic testing. We also recommend that you bring medical reports from recent important examinations.
Recommendation - a referral from the doctor who recommended the genetic consultation. Alternatively, a completed genetic family and personal history questionnaire, which can be downloaded here. However, the questionnaire can also be completed after you arrive at our office. Medical reports from previous examinations related to the requested genetic test. It is not necessary to be fasting for the genetic examination, so you can easily make an appointment in the afternoon.
By phone at 800 390 390 or 234 280 280, by e-mail at info@ghcgenetics.cz.
It has been reported that approximately 5-10% of cancers are caused by inborn changes in certain genes. One of the main goals of predictive genetic testing is the early identification of people at risk. If risk predispositions (gene mutations) are detected, preventive follow-up at specialised centres is recommended, where possible cancers are detected early and the chances of successful treatment are increased. In the case of high-risk mutations, preventive surgery may be recommended to make the risk of cancer in a given organ virtually impossible (for example, removal of the breast glands or removal of the uterus and ovary in BRCA1 or BRCA2 mutation carriers).
If your first-degree relative (parents, siblings, children) develops colon cancer before the age of 45, your risk of developing this cancer is 5 times higher. If you have three first-degree relatives, your risk can be as high as 50%. In families with a history of recurrent bowel cancer or with a history of bowel cancer at a young age, it could be hereditary cancer syndrome (Lynch syndrome). In such cases, genetic consultation is recommended.

Do you have a question or don't know which test to choose?

Call us at 800 390 390 or contact us and we'll be happy to help.