Fabric Genomics

About

Key Features

• AI-Driven Variant Prioritization: Uses advanced explainable AI algorithms to rank and prioritize genetic variants, achieving 98% call accuracy in prioritized top-10 results as validated with Rady Children's Hospital.
• Automated ACMG Classification & Reporting: Automatically classifies variants according to ACMG guidelines and generates clinical reports, eliminating major manual bottlenecks in genomic workflows.
• Multi-Modal Sequencing Support: Supports interpretation of whole genome sequencing (WGS), whole exome sequencing (WES), targeted gene panels, and long-read rapid WGS for diverse clinical use cases.
• Cloud-Based Scalability: Cloud-native architecture scales seamlessly from a single clinical test to hundreds of thousands, making it suitable for national genome projects and large commercial labs.
• Clinical Interpretation Services: Offers expert clinical interpretation services alongside the software platform, providing end-to-end support for genomics programs of all sizes.

Use Cases

• Rapid whole genome sequencing interpretation for critically ill NICU and PICU patients to identify rare genetic conditions and guide urgent treatment decisions.
• Hereditary risk screening programs at hospital systems to identify patients at elevated risk for inherited diseases before symptoms arise.
• Rare disease diagnosis for pediatric patients using AI-prioritized variant analysis across WGS and WES data to reduce diagnostic odysseys.
• National and regional genome projects requiring high-throughput, scalable genomic interpretation infrastructure for large population cohorts.
• Commercial genomics laboratories automating gene panel reporting and ACMG classification to increase throughput and reduce manual review time.

Pros

• High Diagnostic Accuracy: Validated 98% call accuracy in top-10 variant prioritization provides clinicians with high confidence in results for critical diagnoses.
• Significant Time Savings: Automation of ACMG classification, variant ranking, and report generation dramatically reduces turnaround time for urgent cases such as NICU patients.
• Enterprise-Grade Scalability: Cloud-based infrastructure handles both small clinical programs and massive national genome projects without compromising performance.
• Broad Clinical Application Coverage: Covers hereditary risk, rare disease, newborn screening, pediatric panels, and NICU testing in a single platform.

Cons

• Enterprise Pricing: Designed for hospitals, health systems, and commercial labs—pricing is not publicly listed and may be prohibitive for smaller or independent clinical practices.
• Implementation Complexity: Requires a structured implementation assessment and onboarding process, which may extend time-to-value for new customers.
• Specialized Use Case: Focused exclusively on clinical genomics, making it unsuitable for general bioinformatics research or non-clinical genomic analysis workflows.