System for pharmacological interpretation of the human genome

Pharmacogenomics, according to the National Library of Medicine, is the study of how genes affect a person’s response to drugs. This relatively new field combines pharmacology (the science of drugs) and genomics (the study of genes and their functions) to develop effective, safe medications and doses that will be tailored to a person’s genetic makeup.

System for pharmacological interpretation of the human genome - PGxPlus

In 2019, we started our newest R&D project, called PGxPlus, which is aimed at developing and validating the software system for pharmacogenomics.

The project is focused on DNA sequence processing methods dedicated to highly variable regions of the human genome, associated with drug safety and efficacy (pharmacogenes). A combination of high-throughput DNA sequencing, long-range genome reads, and advanced data-analysis pipelines is used for a precise and rapid identification of the genotypes of pharmacogenes.

We test advanced machine learning methods to increase sensitivity and specificity of genotyping, and further to improve prediction of the individual drug-response profile. The system will generate a set of diagnostics tools (tests) for the most commonly used drugs. 

The R&D phase of the project will be followed by the implementation of the system into the clinical conditions. Validated PGxPlus system may become one of the first pharmacogenetic solutions working on the whole-genome scale.

Selected features of PGxPlus system:

• long reads usage and AI-based support for genotyping of CNVs in pharmacogenes,
• drug-specific modules with automated updates,
• oligogenic models,
• automatic preparation of final reports,
• integration with other systems.

PGxPlus will be available on the IntelliseqFlow platform. Read more about the platform here.

Pharmacogenetic test prototype

During the MIT Enterprise Forum CEE acceleration program, in 2019, we had an opportunity to cooperate with Adamed, a pharmaceutical and biotechnology company that manufactures and distributes worldwide medical goods that are used to treat chronic modern-age diseases in a number of therapeutic areas. The aim of our pilot study was to create a pharmacogenetic test prototype based on whole genome sequencing, which includes:

• genotypes of genes involved in metabolism of two antidepressants drugs,
• phenotype classification based on the scale: poor (PM), intermediate (IM), normal (NM) and ultrarapid metabolizer (UM),
• CPIC-based recommendation for dosing based on the phenotype.