It is important to note that pharmacogenetic testing does not investigate clinical pathologies or diseases. Instead, it detects genetic anomalies in metabolism that interfere with effective and safe treatment of existing conditions.
Cardiovascular complications and therapy inefficacy
- Clopidogrel resistance (risk of recurrent strokes and heart attacks): detects mutations (e.g., in the CYP2C19 gene) that prevent the body from activating this antiplatelet drug. This poses a risk of stent thrombosis after stenting.
- Warfarin intoxication: detects defects in the CYP2C9 and VKORC1 genes that slow warfarin clearance, leading to critical blood thinning and severe internal bleeding.
- Statin-induced myopathy and rhabdomyolysis: detects abnormalities in the SLCO1B1 transporter gene, causing statins to accumulate in muscles, resulting in severe pain, muscle tissue breakdown (rhabdomyolysis), and kidney damage.
Psychiatric and neurological disorders (treatment resistance)
- Pharmacoresistant depression: detects abnormally fast or slow metabolism of antidepressants due to defects in CYP2D6 and CYP2C19 genes. This explains why standard drug doses are ineffective or cause severe psychosis and anxiety.
- Ineffectiveness of anticonvulsant and antiparkinsonian therapy: identifies genetic causes for lack of response to epilepsy or Parkinson’s disease treatment, leading to frequent relapses and seizures.
- Severe extrapyramidal symptoms: detects risk of movement disorders (tremor, dystonia) when taking neuroleptics.
Toxic reactions in oncology and gastroenterology
- Critical toxicity of fluoropyrimidines (5-fluorouracil, capecitabine): detects deficiency of the DPD enzyme (DPYD gene). Such deficiency makes chemotherapy lethally toxic, causing profound bone marrow suppression and sepsis.
- Neurotoxicity and myelosuppression: identifies genetic predisposition to severe nervous system and blood damage from other chemotherapy drugs.
- Ineffectiveness of ulcer and GERD therapy: detects "ultra-rapid metabolizers" of proton pump inhibitors (omeprazole, etc.), in whom the drugs are broken down instantly, failing to reduce stomach acidity.
Dangerous immunological and skin pathologies
- Stevens-Johnson syndrome and toxic epidermal necrolysis: the test analyzes the HLA antigen system (e.g., HLA-B). The presence of certain alleles when taking some drugs (carbamazepine, allopurinol) triggers life-threatening allergic reactions with skin detachment and internal organ damage.