Neptune-med

Neptune-med integrates genomic findings into electronic health records to represent single nucleotide variants (SNVs), copy number variations (CNVs), pharmacogenomics results, and polygenic risk scores (PRS) in structured, actionable formats for clinical decision-making.

Key Features:

• Clinical Laboratory–EHR Interaction Management: Manages communication between clinical laboratories and EHR systems to enable delivery of genomic results into patient records.
• Customizable Clinical Reports: Generates sequencing-project-specific reports that include SNVs, CNVs, pharmacogenomics annotations, and polygenic risk scores.
• Variant Reanalysis Capabilities: Supports variant reanalysis to update variant interpretations as new evidence emerges.
• High-Throughput Data Handling: Has processed over 15,000 clinical genomic reports for EHR integration, demonstrating scalability for large-scale reporting.

Scientific Applications:

• Clinical decision support: Provides structured genomic data within EHRs to support clinical decision-making.
• Precision medicine and therapeutic tailoring: Enables tailoring of treatments to individual genomic profiles, including pharmacogenomic guidance and risk stratification via PRS.

Methodology:

Applied to two clinical sequencing projects, the methodology involved report customization and creation of data formats and infrastructure to manage reporting and enable EHR integration.