CPIC Clinical Evidence
Every pharmacogenomic recommendation in the Genomatik report is grounded in the guidelines of the Clinical Pharmacogenetics Implementation Consortium (CPIC) — the international standard for translating genetic data into clinical drug dosing decisions.
What is CPIC?
CPIC (Clinical Pharmacogenetics Implementation Consortium) is an international consortium founded in 2009, comprising researchers, clinical pharmacologists, and genetics experts. Its mission is to create clinical guidelines that translate pharmacogenetic test results into specific dosing recommendations for physicians.
Every CPIC guideline is peer-reviewed, based on systematic literature review, and periodically updated as new evidence emerges. The guidelines cover specific gene-drug pairs and classify each pair according to the available level of evidence.
Genomatik exclusively uses gene-drug pairs classified as Level A by CPIC — those for which robust evidence and actionable recommendations exist for dose modification or alternative drug selection.
Level A — Actionable
Strong evidence. Sufficient data to recommend dosage modifications or alternative drug selection based on genotype. The Genomatik report is based exclusively on this level.
Level B — Moderate
Moderate evidence. Data supports therapeutic modification, but recommendations may be less definitive. Not included in the standard Genomatik report.
Level C — Optional
Limited evidence. The gene-drug association is documented, but insufficient data exists for definitive clinical recommendations.
Level D — Informational
Preliminary evidence. The genetic variant has been associated with drug response in published studies, but evidence remains insufficient for any clinical recommendation.
Analyzed genes
The Genomatik pharmacogenomic panel covers 9 key genes with CPIC Level A evidence. Together, these genes influence the metabolism and response to over 45 commonly used active ingredients.
CYP2C19
Metabolism of clopidogrel, proton pump inhibitors (omeprazole, pantoprazole), antidepressants (escitalopram, sertraline), and antifungals (voriconazole). Common variants determine phenotypes ranging from ultrarapid to poor metabolizer.
CYP2D6
One of the most polymorphic genes in pharmacogenomics. Influences codeine, tramadol, tamoxifen, tricyclic antidepressants, antipsychotics, and beta-blockers. Over 100 known allelic variants.
SLCO1B1
Hepatic transporter of statins (simvastatin, atorvastatin, rosuvastatin). SLCO1B1 variants increase the risk of statin-induced myopathy and may require dose reduction or selection of alternative molecules.
DPYD
Essential gene for fluoropyrimidine metabolism (5-fluorouracil, capecitabine) — cornerstone drugs in chemotherapy for several cancers. Reduced-function variants can cause severe or fatal toxicity.
VKORC1 + CYP2C9
Molecular target of warfarin. VKORC1 and CYP2C9 variants together account for up to 40% of individual variability in the warfarin dose needed to achieve therapeutic anticoagulation.
HLA-B
HLA-B variants are associated with severe adverse reactions (Stevens-Johnson syndrome, toxic epidermal necrolysis) to carbamazepine, allopurinol, and abacavir. Pre-treatment testing is recommended by major international guidelines.
TPMT / NUDT15
Metabolism of thiopurines (azathioprine, mercaptopurine, thioguanine) — used in autoimmune diseases, organ transplants, and leukemias. Reduced-activity variants require significant dose reduction to prevent myelosuppression.
CYP3A5
Metabolism of tacrolimus, a key immunosuppressant in organ transplants. CYP3A5 phenotype significantly influences the initial dose needed to reach therapeutic levels.
How to read the report
For each gene, the Genomatik report indicates the patient's metabolizer phenotype (ultrarapid, normal, intermediate, poor) and the implications for each associated drug. Recommendations closely follow CPIC Level A guidelines.
The report is designed to be shared with the treating physician, who can integrate pharmacogenomic information into the patient's overall clinical context. Genomatik does not prescribe therapies or modify dosages: every clinical decision remains the exclusive responsibility of the physician.
Reference sources
The three main sources used by Genomatik for pharmacogenomic annotation are public, free, and independently accessible:
cpicpgx.org
The official CPIC website contains all guidelines, genotype-to-phenotype translation tables, dosing recommendations, and evidence level classifications for each gene-drug pair.
pharmgkb.org
The Pharmacogenomics Knowledgebase is the reference database for pharmacogenetic annotations. It contains information on genetic variants, drug metabolic pathways, FDA labels, and clinical guidelines.
PubMed / NCBI
The biomedical archive of the National Center for Biotechnology Information contains over 36 million citations. Every data point in the Genomatik report is traceable to one or more published studies indexed on PubMed.