Genotype Translation Software for Personalized Medicine that Is Easy to Use, Reliable and Scalable

Receives Input from Variety of Genotyping Platforms, Applies Translation Rules, and Writes Customizable Reports

This genotype translation software tool could be developed into a production-quality software package for translating genetic data for applications ranging from personalized medicine and pharmacogenomics to cancer diagnosis. Pharmacogenomics is the study of how genes affect a person’s response to drugs. This field combines pharmacology, genomics, and genotyping to develop effective, safe medications that will be specially tailored to a person’s genetic makeup. The pharmacogenomics market is expected to reach $17 billion in 2020. Available genotyping and genetic tests increasingly are being used in drug discovery and development processes to provide personalized therapy. University of Florida researchers have developed a software tool that can perform genotype translation easily and reliably for a large number of subjects simultaneously. The tool inputs genotype data from one of several different genotyping platforms, applies translation rules for one or more genetic tests, and writes customizable reports. This program is based on a modular architecture that allows its components to be freely combined to suit the specific setting where the testing is performed.

Application

Translation software tool for performing customizable genotype translations

Advantages

• Modular architecture enables targeted testing and validation for each module of the translation software separately, increasing accuracy and reducing development costs
• Ability to develop customized software packages, allowing customers to license or purchase only the translational modules they need to analyze genetic tests performed in their laboratory or clinic
• Easily configured to match the combination of genotyping platforms, genetic tests, and required report formats for each specific site, permitting laboratories to switch to a different genotyping platform or report format without changing the analysis workflow

Technology

This software tool comprises a core system containing algorithms and databases for storing, collecting, and interpreting genetic and pharmalogic data for the translation of pharmacogenetic information. The program is standalone and cross-platform and is based on a modular architecture with three basic components – input plugin, translation plugin, and report plugin. The software includes pre-computed and validated translation tables and accepts data from a variety of platforms. The classification it performs allows genetic variants to be categorized into evidence classes that can be further used in molecular diagnostics and personalized medicine research. Finally, the software writes the results to customizable reports that are easy-to-read and reliable. The modular architecture allows this software and its components to be used in a variety of labs to cater to specific research and laboratory settings.