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Comprehensive recommendations for personalized drug selection tailored to specific genotypes.
Accelerate effective drug treatment with personalized recommendations based on genetic profile
GeneSpect PGx Reporter is a solution powered by the iFlow Engine that provides personalized dosing recommendations using industry-standard sources. Starting from fastq or vcf files, it produces a comprehensive and detailed patient report with drug choices and dosing recommendations. GeneSpect PGx Reporter leverages the power of Intelliseq’s proprietary algorithm, Intelliseq Polygenic™, to identify star allele diplotypes and translate them into individual rates of drug metabolism.
Genotyping of raw NGS data
Advanced NGS data processing and quality check to identify SNVs, INDELS and SV of pharmacogenes.
Intelliseq Polygenic Algorithm
Advanced proprietary algorithm predicts the most probable haplotype pairs and assigns star-alleles for the well-established pharmacogenes such as:
• CYP2D6 • CYP2C19 • DPYD • NUDT15 • SLCO1B1
Metabolizing Rate
Star allele diplotypes are used to assign the most likely phenotype, then translate and assign a predicted metabolism rate (i.e. poor, normal, intermediate, rapid metabolizer) based on the individual’s genetic profile.
Personalized recommendations
Aggregating and processing the information from industry-standard source databases to provide patient-specific drug choice and individual dosing recommendations. Analyzed medication types include >200 drugs from areas such as pain management, psychiatry, and cardiovascular.
Intelliseq’s Polygenic algorithm sits at the heart of our PGx pipelines. It uses phased and unphased information about SNVs and SVs in a form of VCF in combination with schematic descriptions of over 20 pharmacogenes, such as CYP2D6, DPYD, NUDT15, SLCO1B1, in a form of .yml. As an output, it provides detailed information about possible and most probable diplotypes, together with information about missing and nonmissing genotype information as a structured json. It is highly flexible in terms of adding the new schematic gene representations and updating the old ones.
GeneSpect PGx Reporter aggregates guidance from knowledge resources including:
FDA
Pharmacogenomic Biomarkers in Drug Labeling (by FDA)
CPIC
Clinical Pharmacogenetics Implementation Consortium
DPWG
The Royal Dutch Association for the Advancement of Pharmacy–Pharmacogenetics Working Group
PharmGKB
The Pharmacogenomics Knowledgebase
To enhance the comprehensive evaluation of recommendations gathered from diverse sources, we introduced an additional rating scale (Levels A to E). The leveling system reflects the strength and reliability of the evidence supporting a particular variant-drug association.
GeneSpect PGx Reporter provides details of over 20 genes including:
Fast turnaround time: from fastq file to final report in < 4h
User-friendly cloud-based interface to upload samples and run analysis
Cost-effectiveness pay-per-analysis pricing
Patient’s Clinical Information
List of current patient medication
Phenotype (metabolizing rate)
Recommendation and its source
Recommendation Rankings
Effective Medications
Assign the most effective drug dose tailored to a patient’s genotype to maximize its therapeutic effect.
Avoid Adverse Drug Reaction (ADR)
Minimize the risk of adverse drug reactions (ADRs) by choosing the medication likely to be efficiently metabolized by individuals according to their star-allele status.
Get Credible Recommendations
Aggregating and processing the information from industry-standard source databases
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