Children’s Hospitals - Breakthrough Genomics

Virtual Geneticist®, giving Children’s Hospitals

the tools to diagnose the most difficult cases

Virtual Geneticist is a modular genomic interpretation platform that provides children's hospitals with an additional layer of genomic intelligence to improve their analytical capabilities and offer better guidance and tools for clinicians.

Providing Cutting Edge and cross-discipline tools designed for improved diagnostics and patient outcomes

Clinical Geneticist

For clinicians, Virtual Geneticist provides an independent tool for evaluating negative, complex cases, and VUS/ borderline variants. By using the platform’s superior prioritization engine and comprehensive annotation tools, clinicians are able to identify false negatives earlier and reduce reliance on outside labs for testing and variant analysis.

Medical Chief

Virtual Geneticist gives hospital teams a consistent, reproducible interpretation framework they can use to compare and validate results from different commercial labs. This reduces internal discordance, strengthens diagnostic confidence, and provides better guidance and tools for clinicians.

Genetic Counselors

Virtual Geneticist empowers genetic counselors by providing instant access to variant literature summaries and ACMG classifications. This helps provide clarity, breadth, and consistency of the information they rely on, giving them greater confidence when navigating VUS and rare variants and the critically important conversations with families and care providers.

Operations

Virtual Geneticist improves the operational efficiency of rare disease programs, helping them move from resource-heavy cost centers toward scalable, financially sustainable clinical services. The platform allows for the internalization of testing and the scaling of rare disease and sequencing programs without expanding headcount.

As genomic testing reshapes pediatric medicine, children's hospitals face the challenge of integrating complex variant data into fast-moving clinical decisions — balancing the urgency of rare disease diagnosis, the needs of multidisciplinary care teams, and the profound impact that timely and accurate results can have on a child's life.

Supplying Children’s Hospitals with Top Tier Genomic Intelligence at Scale

Match Virtual Geneticist to Your Workflow

Select modular solutions to match your needs from variant annotation to full rare disease diagnosis with four purpose-built modules from single variant annotation all the way to clinical reports, newborn screening, and beyond.

Increase Diagnostic Yield

Virtual Geneticist helps children’s hospitals uncover clinically relevant findings that may otherwise be missed through advanced variant prioritization and comprehensive evidence integration.

Support Re-analysis of Previously Unresolved cases

Virtual Geneticist’s powerful prioritization engine and proven ability to help resolve VUS variants gives it an advantage over competing platforms and helps boost overall diagnostic yield, even for the most difficult rare disease cases.

Improve Standardization for Variant Interpretation

Virtual Geneticist helps to create a stable internal standard by using the same ranking, literature evaluation, and documentation logic across all variants which enables clinicians and counselors to validate or question variants reported (or not reported) by external labs

Reduce Interpretation Burden

Virtual Geneticist comes fully-integrated with an interpreted literature database and automated ACMG classification system that significantly reduces the manual burden of variant review while also giving users control over each evaluation.

Core Platform Capabilities

01 Resolution of Complex and Previously Negative Cases

Virtual Geneticist outperforms other platforms with advanced tools to resolve difficult and previously negative cases to boost overall diagnostic yield. The platform’s up-to-date ACMG Classification System features multi-factorial scoring, citation-backed evidence, and optional phenotype entry

02 Advanced
Variant
Prioritization

Virtual Geneticist uses sophisticated Al-powered prioritization that helps children's hospitals rapidly identify clinically relevant variants.

03 Automated Literature Review and ACMG Classification

Virtual Geneticist includes a fully-integrated interpreted literature database with instant access to more than 15 million variant publications.The platform’s up-to-date ACMG Classification System features multi-factorial scoring, citation-backed evidence, and optional phenotype entry.
 

04 Integration from End-to-End Deployment to Optional API 

Virtual Geneticist’s 4 distinct modules can be easily customized for maximum automation and be deployed within existing workflows through seamless API.

Introducing the Virtual Geneticist Modules

VG Variant

A scalable variant annotation and interpretation engine designed to help contextualize and resolve difficult and rare variants.

Virtual Geneticist

A genomic interpretation platform designed for rare disease diagnosis in high-throughput clinical labs, hospitals, and undiagnosed disease programs.

Virtual Geneticist Plus

End-to-end solution for customized NGS analysis and reporting for use in clinical labs, newborn screening programs, and a variety of WGS applications.

AI Genetics Research Agent

A genomics-focused research and translational medicine assistant for biopharma, clinical genomics, and specialty interpretation teams.

End diagnostic odyssey cases.
Speed up delivery of results.
Scale genetic testing initiatives.

Contact Us Today

“Variant Interpretation is becoming increasingly more complex, so having a tool like Virtual Geneticist allows me to quickly zero in on the correct diagnosis.”

Dr. Adrienne Elbert, MD

BC Children’s Hospital