Pharmacogenomics
Our own 67-locus panel, our own analysis engine and a clinical report covering more than 270 drugs across 23 clinical areas. For the right drug, the right dose, the right treatment.
Our pharmacogenomic reports are clinical decision support and do not replace the physician’s judgement.
Most pharmacogenomic tests look at a few predefined positions and report whatever they find there. We look with the eyes of a genomics laboratory: we read the coding region of the gene, call the known alleles and assess the rest with experience from interpreting more than 3,000 exomes.
Only preselected positions are read. A variant in between stays invisible.
Coding regions are sequenced end to end. Known alleles are called, and an unexpected variant is also caught and reported separately with its evidence.
The variant-interpretation expertise built across more than 3,000 patients’ exome analyses is applied to pharmacogenes with the same rigour.
Non-star-allele findings never change the phenotype; they are presented in a separate section with ACMG codes and population frequency. A computational score alone never produces a “pathogenic” verdict.
The same team designs the panel, analyses the data and writes the report. Nothing gets lost in hand-offs.
We treat pharmacogenomics not as a genotyping service, but as a genome analysis problem.The BIODECODE approach
The world’s pharmacogenomic platforms fall into two families: targeted SNP panels and NGS panels. BIODECODE is engineered to lead both on every axis that changes a prescription.
The differenceA platform that reads the whole gene, interprets findings functionally and generates the report automatically. Very few players worldwide offer all three together.
Structural variants and copy-number changes are assessed with limited resolution on short-read data; CYP2D6 is measured by depth ratio and confirmatory testing is recommended when needed. The comparison reflects typical characteristics of platform families; individual products may differ.
A targeted capture panel of our own design, manufactured on Twist Bioscience technology. Tap a gene to see its class, the terms used for it in the report, and the key drugs it is linked to in guidelines.
Associated drugs are established examples from CPIC or DPWG guidelines or FDA labelling, not a complete list. All 270+ drugs appear in the report on drug cards with their evidence levels.
Internationally standard tools and our own modules run in the same pipeline. Every step is documented gene by gene in the report’s methods section.
Libraries are prepared from genomic DNA with our panel and sequenced on next-generation platforms.
Reads are aligned to the current reference genome; duplicates are marked and base qualities recalibrated.
Every variant is annotated with population frequency and ACMG criteria.
Diplotypes are determined from PharmVar allele definitions; phenotypes are assigned from CPIC tables.
Genes for which standard matching is unreliable on short reads are called by our own modules and passed to the engine as external calls.
Non-star-allele missense variants are scored and reported separately with their evidence levels.
The verdict comes from a single, version-controlled knowledge base. Where authorities disagree, the difference is shown in the report.
CYP2D6 affects a large share of prescribed drugs and is the hardest pharmacogene to call from short reads. Instead of hiding uncertainty, we measure and report it.
The first page summarises the decision; the detail follows in clinical-area sections with full guideline text. The pages below use our real report design for a fictional patient.
Fictional sample. It does not belong to a real patient and is not clinical advice.
Detailed recommendations with full guideline text are given in the section pages.
301 drugs and drug groups assessed
*1x2/*1Ultrarapid Metab.AS 3.0*1/*17Rapid Metab.*1/*5Decreased Function*1/*3Expresser (partial)*1/*28Intermediate Metab.*1/*1Normal Metab.*1/*1Normal Metab.| ✕Codeine | CYP2D6 | Consider alternative drug | CPIC |
| ✕Tramadol | CYP2D6 | Consider alternative drug | CPIC |
| ✕Ondansetron | CYP2D6 | Consider alternative drug | CPIC |
| ✕Amitriptyline | CYP2D6 | Consider alternative drug | CPIC |
| ✕Simvastatin | SLCO1B1 | Consider alternative drug | CPIC |
| ▲Tacrolimus | CYP3A5 | Dose adjustment | CPIC |
| ▲Atorvastatin | SLCO1B1 | Dose adjustment | CPIC |
| ◆Escitalopram | CYP2C19 | Clinical guidance | CPIC |
In the section pages: findings for this patient · genotype profile · full guideline text for drugs requiring action · alphabetical drug index · authority differences · analytical coverage, methods and source governance.
For research use · not IVD-approved. A clinical decision-support tool; to be interpreted together with diagnosis, history, concomitant medication and physician judgement.
Phenotype terminology follows the gene class: metabolizer, transporter function, expresser, risk allele.
*1x2/*1Ultrarapid Metabolizer · AS 3.0*1/*17Rapid Metabolizer*1/*28Intermediate Metabolizer*4/*5Intermediate Metabolizer*1/*1Normal Metabolizer*1/*1Normal Metabolizer*1/*1Normal Metabolizer*1/*1Normal Metabolizer*1/*1Normal Metabolizer*1/*1Normal Metabolizer*1/*5Decreased Functionrs2231142 G/GNormal Function*1/*3Expresser (partial)The CPIC term “Normal” means expresser-1639 G/ANo phenotype assignedUsed in the warfarin dosing algorithm*1/*1No phenotype assignedUsed in the warfarin dosing algorithm*15:02 · *57:01 · *58:01Risk Allele NegativeShared by all typing solutions*31:01Risk Allele NegativeShared by all typing solutionsActionable findings for 6 drugs. Each card shows the verdict, the gene it comes from and the full guideline text.
SLCO1B1CPIC guidelineLipid-lowering drugsPrescribe an alternative statin depending on the desired potency. If simvastatin therapy is warranted, limit the dose to <20 mg/day.
Choose an alternative. Consider additional risk factors for statin-induced myopathy.
SLCO1B1CPIC guidelineLipid-lowering drugsPrescribe ≤40 mg as a starting dose and adjust doses of atorvastatin based on disease-specific guidelines. Prescribers should be aware of a possible increased risk of myopathy, especially at 40 mg.
CYP2C19CPIC guidelineAntithrombotic drugsIf considering clopidogrel, use at standard dose (75 mg/day).
Measured findings beyond star-allele calling: HLA risk alleles, CYP2D6 assessment and loss-of-function screening.
| Allele | Status | Related drug | Source |
|---|---|---|---|
B*57:01 | negative | abacavir | CPIC A |
B*15:02 | negative | carbamazepine, oxcarbazepine, phenytoin | CPIC A |
A*31:01 | negative | carbamazepine | CPIC A |
B*58:01 | negative | allopurinol | CPIC A |
B*13:01 | negative | dapsone | DPWG / literature |
*1x2/*1
Phenotype (CPIC)Ultrarapid Metabolizer · activity score 3.0
Depth ratio1.46 — consistent with increased copy number
Alternative scenario*1/*1 (AS 2.0 · Normal Metabolizer) — copy number could not be confirmed from short-read data
Drugs whose verdict would changeCodeine, Tramadol, Ondansetron, Amitriptyline
For a definitive class, a CYP2D6-specific confirmatory test (MLPA or long-read) is recommended.
This section does not change the phenotype; the functional effect of non-star-allele variants is often unverified.
p.Gly365SerHeterozygousUncertain (VUS)<0.01%Drug coverage across 23 clinical areas
These are not preferences but rules every report must meet. A report that breaks one does not go into clinical use.
For every gene without a star-allele call, we state what was done and what was found: screening result, measured depth, panel coverage. We never produce results by assumption.
Every action is shown with a symbol ✕ ▲ ◆ ● and a label. The report says the same thing when printed in black and white.
Even our custom modules’ calls are passed to the engine; the guideline verdict always comes from CPIC, DPWG and FDA tables. A discrepancy is never silently fixed; it becomes a visible warning.
Every dose statement in the report comes from a version-controlled source table, together with its source text. The clinical decision belongs to the physician, based on the whole patient.
Physicians, patients and institutions look at the same genotype with different questions.
The report is organised by clinical area; each drug card shows the verdict, source gene, authority and full guideline text together. Drugs with the same verdict are grouped on one card.
Terminology follows the gene class: metabolizer for enzymes, function for transporters, risk allele for HLA. CYP3A5 and similar genes, where the CPIC term can mislead, use “Expresser”.
Your genes affect how quickly your body processes certain medicines and how you respond to them. The same dose may work for one person, fail in another, or cause side effects.
A pharmacogenomic test reveals this difference in advance, so your physician can choose the drug and dose accordingly. Your genotype never changes, so your result stays a reference for future prescriptions.
Always review your results with your physician. Never stop a medicine or change its dose on your own.
For hospitals, clinics and laboratories, BIODECODE provides end-to-end pharmacogenomic infrastructure from panel design to report. Every report is traceable through its sample record, chain of responsibility and document integrity digest.
For partnerships and international enquiries, contact us directly; in Türkiye, sales and distribution run through our partner PharmaDecode.
For partnerships, institutional and international enquiries, and press, contact us directly.
[email protected]Clinical questions go to the laboratory; sales in Türkiye are handled by PharmaDecode.