Sequence2Script: A Web-Based Tool for Translation of Pharmacogenetic Data Into Evidence-Based Prescribing...

Area of Science:

• Pharmacogenomics
• Clinical Pharmacology
• Bioinformatics

Background:

• Pharmacogenomic (PGx) testing is increasingly used to guide drug selection and dosing.
• Lack of standardized methods for translating PGx results into clinical recommendations hinders widespread adoption.
• A need exists for tools to ensure PGx recommendations align with expert guidelines and product labels.

Purpose of the Study:

• To introduce Sequence2Script, a free, web-based tool for translating PGx testing results into actionable prescribing recommendations.
• To provide a transparent and efficient method for healthcare providers, lab staff, and researchers to utilize PGx data.
• To support the standardization and implementation of PGx testing in clinical practice.

Main Methods:

• Development of a web-based platform, Sequence2Script, accessible at sequence2script.com.
• Integration of evidence-based prescribing guidelines for 97 gene-drug pairs.
• Inclusion of features for adjusting recommendations based on concomitant drug interactions (inhibitors/inducers) and generation of clinical reports.

Main Results:

• Sequence2Script offers a user-friendly interface for translating PGx genotypes into phenotypes and prescribing recommendations.
• The tool supports a substantial number of gene-drug pairs and accounts for drug-drug interactions.
• Clinical reports generated by the tool summarize genotype, phenotype, and phenoconverted phenotype with recommendations.

Conclusions:

• Sequence2Script facilitates the efficient and standardized use of PGx testing results in clinical decision-making.
• The tool aims to reduce barriers to implementing pharmacogenomic information into patient care.
• Future development will address limitations and expand the tool's capabilities to meet diverse user needs.