- \n
- Defining genetic variants influencing the effects of drugs in the organism and elucidating the relationships between genes and drug responses.<\/li>\n
- Preventing serious drug side effects and drug interactions.<\/li>\n
- Developing an optimal treatment plan based on the patient’s unique genetic information.<\/li>\n
- Replacing common drug choices and trial-and-error treatment plans.<\/li>\n
- Reducing overall healthcare costs.<\/li>\n
- Conducting simultaneous examination of multiple genes is faster and more cost-effective than studying individual genes separately.<\/li>\n<\/ul>\n<\/div>\n<\/div>\n\n<\/span>WHY IS IT NECESSARY TO KNOW A PATIENT'S PHARMACOGENETIC PROFILE?<\/div>\n\n
1. Knowing the patient’s pharmacogenetic profile allows the physician to promptly and specifically prescribe the appropriate medication at a customized dosage.<\/strong><\/p>\n
![\"\"](\"https:\/\/synlab.ee\/wp-content\/uploads\/2024\/04\/pharmacogenetic-population-1024x450.jpg\")
<\/a><\/p>\nPatient response to treatment should be considered across all medical specialties. The use of pharmacogenetic analyses is particularly valuable for the following medications:<\/p>\n
- \n
- Antidepressants and other psychotropic drugs;<\/li>\n
- Analgesics\/rheumatoid drugs;<\/li>\n
- Anticoagulants;<\/li>\n
- Antibiotics, antiviral, and antifungal drugs;<\/li>\n
- Diabetes medications;<\/li>\n
- Antihypertensive drugs;<\/li>\n
- Cytostatics;<\/li>\n
- Proton pump inhibitors.<\/li>\n<\/ul>\n
2. The quality of treatment improves, and treatment costs decrease.<\/strong><\/p>\n
3. Among pharmacogenetically tested patients, the following are observed:<\/strong><\/p>\n
- \n
- Greater likelihood of symptom relief compared to conventional treatment;<\/li>\n
- Significantly better rates of treatment response and tolerability;<\/li>\n
- Shorter hospitalization time;<\/li>\n
- Lower treatment costs.<\/li>\n<\/ul>\n
4. Among pharmacogenetically tested patients who concurrently use multiple medications, the following are observed:<\/strong><\/p>\n
- \n
- Reduced need for hospitalization;<\/li>\n
- Reduced doctor visits.<\/li>\n<\/ul>\n<\/div>\n<\/div>\n\n<\/span>PHARMACOGENETICS DIVIDES PEOPLE INTO 5 ACTIVITY GROUPS<\/div>\n\n
Polymorphisms found in pharmacogenes cause deficient, decreased, normal, or increased enzymatic activity. Based on this, people can be divided into five activity groups (phenotypes).<\/p>\n
![\"\"](\"https:\/\/synlab.ee\/wp-content\/uploads\/2024\/04\/pharmacogenetics-activity-groups-1024x607.jpg\")
<\/a>\n<\/div>\n<\/div>\n\n<\/span>WHAT IS INSIDE PHARMACOGENETICS DNA PANEL?<\/div>\n\nThe panel comprises 34 genes associated with the metabolism of around 300 drug compounds.<\/strong><\/p>\n
\n\n\n
\n Gene<\/strong><\/td>\n Function<\/strong><\/td>\n<\/tr>\n \n ABCB1<\/td>\n Codes for P-glycoprotein, an essential cellular membrane transport protein. P-glycoprotein controls the entry of compounds into cells throughout the body, thereby influencing drug concentrations.<\/td>\n<\/tr>\n \n ABCG2<\/td>\n Codes for a cell membrane protein that transports various molecules, including drugs, across the membrane. ABCG2 partially transports the same drugs as P\u2011glycoprotein.<\/td>\n<\/tr>\n \n BCHE<\/td>\n Codes for nonspecific butyrylcholinesterase, which hydrolyzes various choline-based esters.<\/td>\n<\/tr>\n \n CACNA1S<\/td>\n Codes for the dihydropyridine receptor alpha1S subunit, expressed in the sarcoplasmic reticulum of muscle cells, and activates the RYR1 calcium channel during membrane depolarization in contractile myocytes.<\/td>\n<\/tr>\n \n CYP1A2<\/td>\n Hepatic enzyme involved in the metabolism of several drugs, caffeine, and procarcinogens.<\/td>\n<\/tr>\n \n CYP2B6<\/td>\n Hepatic enzyme responsible for the metabolism of HIV and cancer drugs, as well as bupropion.<\/td>\n<\/tr>\n \n CYP2C
rs12777823<\/td>\nGenetic variant associated with lower warfarin dose requirements.<\/td>\n<\/tr>\n \n CYP2C19<\/td>\n Hepatic enzyme mediating the metabolism of several important drugs, including psychotropic medications, proton pump inhibitors, and anticoagulants.<\/td>\n<\/tr>\n \n CYP2C8<\/td>\n Hepatic enzyme involved in the metabolism of various drugs, including antidiabetic medications, statins, analgesics, and cancer drugs.<\/td>\n<\/tr>\n \n CYP2C9<\/td>\n Hepatic enzyme involved in the metabolism of several drugs, including warfarin and phenytoin.<\/td>\n<\/tr>\n \n CYP2D6<\/td>\n Hepatic enzyme mediating the metabolism of approximately 20\u201325% of clinically used drugs, including antidepressants, antipsychotics, and analgesics.<\/td>\n<\/tr>\n \n CYP3A4<\/td>\n Hepatic enzyme mediating the metabolism of 30\u201350% of all drugs in clinical use.<\/td>\n<\/tr>\n \n CYP3A5<\/td>\n Hepatic enzyme involved in the metabolism of several drugs, the most clinically significant of which is tacrolimus.<\/td>\n<\/tr>\n \n CYP4F2<\/td>\n Mediates the metabolism of various endogenous substrates and xenobiotics. Genotype information may assist in predicting warfarin dose requirements.<\/td>\n<\/tr>\n \n DPYD<\/td>\n Codes for dihydropyrimidine dehydrogenase, which catabolizes fluoropyrimidines used as chemotherapeutics for multiple cancers.<\/td>\n<\/tr>\n \n F2<\/td>\n Codes for prothrombin, a key enzyme in the coagulation cascade. Mutations in the prothrombin gene increase the risk of thrombosis.<\/td>\n<\/tr>\n \n F5<\/td>\n Codes for coagulation factor V. The F5 gene mutation (Factor V Leiden) is the most common inherited cause of thrombophilia.<\/td>\n<\/tr>\n \n G6PD<\/td>\n Codes for glucose\u20116\u2011phosphate dehydrogenase, which protects erythrocytes from oxidative stress.<\/td>\n<\/tr>\n \n HLA alleles HLA\u2011A*31:01, HLA\u2011B*15:02, HLA\u2011B*57:01<\/td>\n HLA class I alleles encode MHC I molecules that present peptides to CD8+ T cells. Certain variants\u2014such as HLA\u2011A*31:01, HLA\u2011B*15:02, and HLA\u2011B*57:01\u2014are associated with increased risk of T\u2011cell\u2013mediated hypersensitivity reactions to specific drugs, which may manifest as severe cutaneous and systemic adverse reactions.<\/td>\n<\/tr>\n \n IFNL3<\/td>\n Codes for interferon lambda 3, which is activated during viral infections. Gene variants help predict the effectiveness of hepatitis C treatment.<\/td>\n<\/tr>\n \n MT\u2011RNR1<\/td>\n Mitochondrial gene encoding 12S rRNA, influencing mitochondrial ribosome function. Genotype information is used to assess aminoglycoside safety, as certain variants increase susceptibility to aminoglycoside\u2011induced ototoxicity.<\/td>\n<\/tr>\n \n MTHFR<\/td>\n Codes for methylenetetrahydrofolate reductase, an enzyme critical in folate metabolism and in regulating methylation and DNA synthesis pathways.<\/td>\n<\/tr>\n \n NAT2<\/td>\n Acetylates and neutralizes various xenobiotics. It also partially activates certain carcinogens, and activity levels may influence cancer risk (e.g., prostate or colorectal cancer).<\/td>\n<\/tr>\n \n NFIB<\/td>\n Codes for a transcription factor expressed in multiple tissues. Located on the short arm of chromosome 9. Copy\u2011number variants in this region cause MACID syndrome (macrocephaly and intellectual developmental disorders), and intragenic variants have been associated with clozapine metabolism.<\/td>\n<\/tr>\n \n NUDT15<\/td>\n Codes for a nucleoside diphosphatase enzyme that converts thiopurine metabolites into less cytotoxic forms.<\/td>\n<\/tr>\n \n RARG<\/td>\n Codes for retinoic acid receptor \u03b3, which regulates gene expression and cellular functions. Pharmacogenetically associated with response to all\u2011trans retinoic acid (ATRA) in certain leukemia types, influencing treatment efficacy and risk of adverse effects.<\/td>\n<\/tr>\n \n SLCO1B1<\/td>\n Codes for the OATP1B1 transporter protein, facilitating hepatic uptake of statins from the plasma.<\/td>\n<\/tr>\n \n SLC28A3<\/td>\n Codes for a nucleoside transporter influencing drug entry into cells. Gene variants may affect tolerance and adverse event risk of nucleoside analogues (e.g., some cancer and HIV drugs) and certain cardiovascular medications.<\/td>\n<\/tr>\n \n TPMT<\/td>\n Codes for thiopurine S\u2011methyltransferase, responsible for the metabolism of thiopurine drugs.<\/td>\n<\/tr>\n \n UGT1A1<\/td>\n Codes for UDP\u2011glucuronosyltransferase 1\u20111, responsible for metabolizing specific drugs (e.g., anticancer therapies) and bilirubin elimination.<\/td>\n<\/tr>\n \n UGT1A6<\/td>\n Codes for UDP\u2011glucuronosyltransferase 1A6, which participates in the glucuronidation of drugs and endogenous compounds, making them easier to eliminate. Genetic variants may influence drug metabolism rate and toxicity.<\/td>\n<\/tr>\n \n VKORC1<\/td>\n Involved in the activation of coagulation factors and has inherited variants that directly affect warfarin dosing.<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n<\/div>\n<\/div>\n \n<\/span>TEST METHOD AND RESULTS<\/div>\n\nPharmacogenetic 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.<\/p>\n
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.<\/p>\n
Sampling \u2192 DNA extraction \u2192 OpenArray and CNV analysis \u2192 Interpretation<\/strong><\/p>\n
Genotype raw data is organized by genes. Several medical specialists are responsible for the accuracy and currency of the information. Report includes:<\/p>\n
\n<\/span>List and Classification of Medications<\/div>\n\nThe genes included in the panel are associated with the metabolism of over 200 drug compounds, which are related to various therapeutic areas.
\nMedications are grouped based on the results:<\/p>\n- \n
- Medications with clinically significant genetic variations;<\/li>\n
- Medications with certain clinical significance genetic variations;<\/li>\n
- Medications with low clinical significance genetic variations;<\/li>\n
- Medications with no clinically significant genetic variations.<\/li>\n<\/ul>\n
The report also separately lists heavily affected medications across different therapeutic areas along with their active ingredients and phenotypes.<\/p>\n
See active ingredients list HERE.<\/a><\/strong><\/p>\n<\/div>\n<\/div>\n
\n<\/span>Drug-Specific Recommendations Based on Scientific Databases<\/div>\n\nFor 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:<\/p>\n
![\"\"](\"https:\/\/synlab.ee\/wp-content\/uploads\/2022\/09\/d.png\")
<\/a>Pharmacogenetic variation affects drug effectiveness or adverse reactions with significant clinical relevance. A genetic test is
\nrecommended. Check existing test results before prescribing the drug. Check dosing and administration based on test results.<\/p>\n![\"\"](\"https:\/\/synlab.ee\/wp-content\/uploads\/2022\/09\/c.png\")
<\/a>Pharmacogenetic variation affects drug effectiveness or adverse reactions with some clinical relevance. If genetic test results are
\navailable, consider changing drug or dosing based on results. If genetic testing has not been conducted, consider ordering a test.<\/p>\n![\"\"](\"https:\/\/synlab.ee\/wp-content\/uploads\/2022\/09\/b.png\")
<\/a><\/p>\nPharmacogenetic variation may affect drug effectiveness or adverse reactions, but with minor clinical significance in most
\npatients. Monitor drug response and possible adverse reactions. If genetic test results are available, consider changing drug or
\ndosing based on results.<\/p>\n![\"\"](\"https:\/\/synlab.ee\/wp-content\/uploads\/2022\/09\/a.png\")
<\/a><\/p>\nPharmacogenetic variation does not significantly affect drug effectiveness or adverse reactions.<\/p>\n<\/div>\n<\/div>\n
Check out the sample report (.pdf)<\/span><\/a><\/p>\n<\/div>\n<\/div>\n
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