Pharmacogenomics

Placing genetics at the core of medical decisions

Pharmacogenomic genetic testing is used to identify inherited variants that determine how an individual metabolises and responds to specific drugs. Rather than diagnosing disease, it characterises common germline polymorphisms in drug-metabolising genes, defining metaboliser phenotypes such as CYP2D6 poor or ultrarapid metaboliser status. Clinically actionable gene-drug pairs span (DPYD and fluoropyrimidines), (CYP2D6, CYP2C19), (CYP2C19 and clopidogrel), thiopurine therapy (TPMT, NUDT15) and HLA-linked severe drug reactions. Actionable variants are common: in one genotyped cohort 98.8% of individuals carried at least one. The provides the global standard, with evidence-based guidance now covering 34 genes and 164 drugs, translating results into prescribing decisions that improve drug safety and efficacy.

PGx preventive panel

A broad, preemptive screening test that analyses clinically relevant genes across multiple therapeutic areas to support safer, more personalised prescribing before treatment begins

PGx diagnostic testing

Targeted tests to support therapy decisions in patients already undergoing treatment, including gene panels and single-gene analyses tailored to relevant clinical specialties such as psychiatry, oncology, cardiology, and pain management

Clinical implications

Importance of genetic counselling 

Technology

References

Swen JJ, van der Wouden CH, Manson LE, Abdullah-Koolmees H, Blagec K, Blagus T, et al. A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study. Lancet (London, England). 2023;401(10374):347-356. doi: 10.1016/S0140-6736(22)01841-4. PMID: .
Litonius K, Kulla N, Falkenbach P, Kristiansson K, Tarkiainen EK, Ukkola-Vuoti L, et al. Value of Pharmacogenetic Testing Assessed with Real-World Drug Utilization and Genotype Data. Clinical pharmacology and therapeutics. 2025;117(1):278-288. doi: 10.1002/cpt.3458. PMID: . PMCID: PMC11652815.
Caudle KE, Whirl-Carrillo M, Relling MV, Hoffman JM, Donnelly RS, Haidar CE, et al. Advancing Clinical Pharmacogenomics Worldwide Through the Clinical Pharmacogenetics Implementation Consortium (CPIC). Clinical pharmacology and therapeutics. 2025;118(6):1512-1522. doi: 10.1002/cpt.70005. PMID: . PMCID: PMC13037831.
Roncato R, Bignucolo A, Peruzzi E, Montico M, De Mattia E, Foltran L, et al. Clinical Benefits and Utility of Pretherapeutic DPYD and UGT1A1 Testing in Gastrointestinal Cancer: A Secondary Analysis of the PREPARE Randomized Clinical Trial. JAMA network open. 2024;7(12):e2449441. doi: 10.1001/jamanetworkopen.2024.49441. PMID: . PMCID: PMC11624585.
Maillard M, Schwab M, Whirl-Carrillo M, Moyer AM, Suarez-Kurtz G, Pui CH, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2025 Update. Clinical pharmacology and therapeutics. 2026;119(4):916-927. doi: 10.1002/cpt.70209. PMID: . PMCID: PMC12997511.
Omran S, Gan SH, Teoh SL. Pharmacogenomics in drug therapy: global regulatory guidelines for managing high-risk drug reactions. European journal of human genetics : EJHG. 2026;34(1):27-36. doi: 10.1038/s41431-025-01950-6. PMID: . PMCID: PMC12815907.
Skokou M, Karamperis K, Koufaki MI, Tsermpini EE, Pandi MT, Siamoglou S, et al. Clinical implementation of preemptive pharmacogenomics in psychiatry. EBioMedicine. 2024;101:105009. doi: 10.1016/j.ebiom.2024.105009. PMID: . PMCID: PMC10879811.

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Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

How to order a genetic test

Select the right test for your patients. Contact our team in case you do not have an active contract yet.

Collect the sample. Download and fill in the order and consent form or access our portal (available for sample sent to Germany).

Properly pack the sample and send it to Medicover Genetics.

The sample will be analysed in our accredited laboratories.

An actionable report will be available for you to access safely and securely.

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