Pharmacogenomics Workflow: Identifying Biomarkers and Treatment Options

Abstract Pharmacogenomics is emerging as a clinically important field that examines the impact of genetic variation on drug response. As genotyping costs have continued to decline, pharmacogenomics has rapidly advanced, and its integration into clinical practice is now becoming more broadly feasible. The field is driving personalized medicine towards tailored selection and dosing of drugs, improving both safety and efficacy. While the science is now largely established, there is a need in the genetic testing laboratory market for a solution that performs the data analysis, knowledgebase curation, and clinical reporting needed for clinical implementation of pharmacogenomic tests. To address this need, Golden Helix initiated the development of a new product, VarSeq Pharmacogenomics (VSPGx), in a Phase I SBIR. The Phase I aims were achieved, and VSPGx has entered the market as a user-friendly software solution for integration of pharmacogenomic analysis into clinical care. This software solution facilitates the analysis and reporting of potential drug responses based on Next-Generation Sequencing (NGS) data. Using the feedback already received from the market, this Phase II project aims to expand the impact of VSPGx by broadening its scope, improving its scalability, and ensuring seamless integration with electronic health systems (EHSs). In this phase of the project, we will expand curation of pharmacogenomic data, including FDA-approved labeling and new clinical risk factors, to enhance clinical relevance. We will also develop specialized algorithms for whole genome sequencing (WGS) data to broaden genetic variation detection. Additionally, to enable scaling to large sample volumes, we will automate workflows and establish a data warehousing system. Integration with EHSs using standards like HL7 will support improved clinical decision-making at point-of-care by enabling real-time drug alerts and medical record updates, making VSPGx an integrated part of the laboratory information systems. Golden Helix’s proficiency in providing clinical interpretation platforms and data warehousing solutions uniquely positions us to develop a comprehensive solution that caters to a broader range of use cases. Feedback from beta customers of VSPGx highlights a market need for expanded capabilities, scalable workflows, and enterprise-level integrations to operationalize pharmacogenomics on a larger scale – all of which are part of this Phase II SBIR. The completion of these aims will result in a solution that meets these needs, furthering the integration of pharmacogenomic testing into routine clinical practice, and contributing to improved patient outcomes and cost-effective healthcare.