Clinical genomics · Pharmacogenomics

Right drug.Right dose.Right treatment.

BIODECODE has interpreted the genomic data of more than 3,000 patients across WES, CES, Trio-WES and cancer panel analyses. We bring that experience to the prescription through our own 67-locus pharmacogenomic system.

Our pharmacogenomic systemAll our services

Our pharmacogenomic reports are clinical decision support and do not replace the physician’s judgement.

Panel

67 pharmacogenetic loci in a single panel.

We designed our own targeted capture panel. From cytochrome P450 enzymes to transporters, receptors and HLA loci, the genes that shape drug response are read in a single sequencing run.

  • 14 cytochrome P450 genes
  • 14 transporters
  • 11 HLA loci

Analysis

Analysis that reads beyond known alleles.

Star-allele calling is done by our own engine, with custom modules for CYP2D6 and HLA. The coding regions of each gene are additionally screened within the ACMG framework we use for exome interpretation.

  • CYP2D6 read-based phasing
  • HLA multi-solution consensus
  • Loss-of-function screening

Report

Hundreds of drugs, one decision document.

CPIC, DPWG and FDA recommendations on drug cards organised by clinical area. Every verdict states which gene and which authority it comes from.

See the report up close
  1. Panel
  2. Analysis
  3. Report
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  • 3.000+patients’ genomic analyses: WES, CES, Trio-WES and cancer panels
  • 67loci in our own pharmacogenomic panel design
  • 270+drugs with genotype-guided assessment
  • 23clinical areas of drug coverage, based on CPIC, DPWG and FDA

Genomic analysis, end to end, in one team.

BIODECODE has interpreted the genomic data of more than 3,000 patients across whole-exome, clinical-exome, trio and cancer panel analyses. Our pharmacogenomic system is built on that experience.

A genomic view of pharmacogenomics.

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.

Position-targeted genotyping

Only preselected positions are read. A variant in between stays invisible.

not read

BIODECODE targeted sequencing and genomic interpretation

Coding regions are sequenced end to end. Known alleles are called, and an unexpected variant is also caught and reported separately with its evidence.

rare missense variant detected with ACMG criteria, gnomAD frequency, REVEL and AlphaMissense scores
  • Star-allele defining position
  • Sequenced coding region
  • Non-star-allele variant

  • Clinical genomics experience

    The variant-interpretation expertise built across more than 3,000 patients’ exome analyses is applied to pharmacogenes with the same rigour.

  • Evidence-based caution

    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.

  • Integrity from one hand

    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

Our platform: one interface from data to decision.

We run all our analyses on a genome analysis platform we built ourselves. Variant interpretation, trio and CNV analysis and pharmacogenomics live in the same patient record, with a traceable history.

BIODECODE Analysis PlatformRepresentative view
GeneVariantZygosityClassHPO match
SCN1Ac.2836C>T · p.Arg946CysHet · de novoPathogenic
KCNQ2c.881C>T · p.Ala294ValHetLikely pathogenic
CDKL5c.215T>C · p.Ile72ThrHetVUS
STXBP1c.1216C>T · p.Arg406CysHetVUS
PCDH19c.605C>A · p.Ser202TyrHet · maternalLikely benign
Job ID run_7f3a…Input SHA-256 recordedGRCh38 verified

  • Patient-level variant interpretation

    Annotation, ACMG classification and prioritisation by HPO phenotype terms; notes and labels stay bound to the variant identity.

  • Trio and CNV

    Inheritance analysis with parental genotypes; copy-number assessment against a panel-of-normals reference.

  • Drug Response Profile

    Pharmacogenomic analysis in the same patient record; without a kit selection, analysis never silently falls back to a default.

  • Every run is traceable

    Every analysis is stored in a persistent history with its job ID, timestamps and SHA-256 digests of its input files.

  • Data stays in-house

    Patient data is processed locally with restricted external connections; access is separated into user and administrator roles.

  • Testing discipline

    More than 2,600 automated tests and independent comparisons against GeT-RM reference samples.

Every step has an owner.

A pharmacogenomic report is the product of several kinds of expertise. We state clearly, in the report itself, who is responsible for what.

  • İstanbul Genetik Grubu

    Laboratory and medical sign-off

    The responsible medical genetics diagnostic centre: sample intake, laboratory analysis and medical sign-off of the report.

  • BIODECODE

    Bioinformatics, interpretation and report

    Panel design, analysis engine, custom modules, guideline matching and report generation.

  • PharmaDecode

    Commercial distribution in Türkiye

    Institutional sales, orders and logistics in Türkiye. Not part of the medical process.

Write to us for the right drug, dose and treatment.

For partnerships, institutional and international enquiries, and press, contact us directly.

info@biodecode.com.tr

Clinical questions go to the laboratory; sales in Türkiye are handled by PharmaDecode.