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GeneSpect Reporter for Pharmacogenomics

Comprehensive recommendations for personalized drug selection tailored

to specific genotypes.

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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.

Step 1

Genotyping of raw NGS data

Advanced NGS data processing and quality check to identify SNVs, INDELS and SV of pharmacogenes.

Step 2

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

Step 3

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.

Step 4

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.

Accelerate effective drug treatment with personalized recommendations based on genetic profile

Step 1

Genotyping of raw NGS data

Advanced NGS data processing and quality check to identify SNVs, INDELS and SV of pharmacogenes.

Step 2

Intelliseq Polygenic Algorithm

Step 3

Metabolizing Rate

Step 4

Personalized recommendations

Reliable recommendations

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

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.

An extensive set of pharmacogenes analyzed

GeneSpect PGx Reporter provides details of over 20 genes including:

CYP26A1
CYP2A13
CYP2B6
CYP2C19
CYP2C8
CYP2C9
CYP2D6
CYP2F1
CYP2J2
CYP2R1

Rapidly generated

Rapidly generated and easily accessible reports

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

Product details

Benefits

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.