GeniqueCARE Pharmacogenomics

What it covers

How you metabolise common medications, and predicted response and adverse-reaction risk across major drug classes.

What you get

Prescribing guidance that maps your genotype to the right drug and the right dose.

Who it's for

Clinicians and patients managing chronic or multi-drug therapy.

From sample to report

Sequenced and returned as a report that translates your genotype into practical prescribing guidance.

How the analysis works

Pharmacogenomics is a star-allele problem before it is a reporting problem: the same gene can carry many named variants, and the guidance depends on which pair you have.

• Pre-processing: reads are mapped to the reference, duplicates marked, base quality scores recalibrated, and variants called and filtered to an analysis-ready VCF.
• Star alleles: the VCF is phased against a 1000 Genomes haplotype reference, genotypes determined, star alleles identified against PharmVar and CPIC, and prioritised by allele function and impact.
• Guidance: phenotype prediction using CPIC and PharmGKB, with recommendations drawn from PharmGKB, CPIC and DPWG, resolved into a personalised medication strategy.