GLOBAL CLINICAL RESPONSE TO DRUGS: CLINICAL EXOME PANEL (Sec. & CNVs) – 54 genes

The global Clinical Drug Response panel comprehensively analyzes the main genetic variants that influence the efficacy, metabolism, and toxicity of a wide range of drugs used in various medical fields. Its goal is to optimize drug treatment by identifying polymorphisms that affect enzyme activity, transport, and drug action, thereby reducing adverse reactions and improving therapeutic efficacy. This study encompasses genes of the cytochrome P450 system (CYP1A1, CYP1A2, CYP2B6, CYP2C9, CYP2C19, CYP2D6, CYP3A4, CYP3A5, CYP4F2) involved in the metabolism of antidepressants (fluoxetine, sertraline, amitriptyline, venlafaxine), anxiolytics and antipsychotics (haloperidol, aripiprazole, risperidone, quetiapine), opioids (codeine, tramadol, fentanyl, methadone), antiepileptics (carbamazepine, phenytoin), anticoagulants (acenocoumarol, warfarin), antineoplastics (tamoxifen, irinotecan) and statins (fluvastatin, simvastatin). It also includes transport and detoxification genes (ABCB1, ABCC2, ABCG2, SLCO1B1, SLC22A1, GSTM1, GSTP1, GSTT1, UGT1A1, NAT2, NQO1) related to the absorption and elimination of statins, immunosuppressants (cyclosporine, tacrolimus), chemotherapeutic agents (irinotecan, oxaliplatin), antiretrovirals, oral antidiabetic drugs (metformin), and cardiovascular drugs. Also included are genes associated with specific response and toxicity (VKORC1, TPMT, NUDT15, DPYD, TYMS, MTHFR, SLC19A1) involved in sensitivity to coumarin anticoagulants (acenocoumarol, warfarin), antimetabolites (methotrexate, fluorouracil, azathioprine, capecitabine), and cytostatic agents, helping to prevent serious hematological complications. Other genes, such as ADRB1, ADRB2, HMGCR, OPRM1, DRD2, COMT, ACE, and APOE, determine the efficacy and tolerability of antihypertensives (beta-blockers, ACE inhibitors), opioid analgesics (codeine, tramadol, morphine), statins, and psychotropic drugs (antidepressants, antipsychotics, anxiolytics). Finally, the panel includes hypersensitivity and immune risk genes (HLA-A, HLA-B) associated with serious adverse reactions to carbamazepine, abacavir, or allopurinol. Taken together, this panel allows for the assessment of genetic response to more than 150 drugs used in oncology, psychiatry, cardiology, neurology, internal medicine, endocrinology, and primary care, providing a comprehensive tool for personalized prescribing and the prevention of serious adverse effects.