Patient Advocacy - Breakthrough Genomics

Join the Fight Against Rare Disease

with high-powered tools
to solve cases others miss

Virtual Geneticist harnesses the most advanced AI technology to make resolving the most difficult cases routine.

Supporting the community of scientists, healthcare providers, families, and advocates working to end rare disease

Patients and
Families

For children and families navigating the uncertainty of a rare disease or undiagnosed conditions, every answer matters. Virtual Geneticist enables clinical teams and the patients they serve to uncover genetic insights faster, enabling earlier diagnoses, more informed care decisions, and a clearer path toward living their best lives.

Rare Disease
Foundations

Virtual Geneticist helps foundations and the families they support accelerate gene and variant discoveries. By synthesizing the latest evidence in one place, the platform provides a cost-effective way to advance diagnostic breakthroughs and therapeutic developments while also informing patient care and education.

Undiagnosed Disease Programs

Virtual Geneticist’s powerful ranking engine helps identify rare disease-causing variants, resolve uncertain case results, and support individual and high-volume re-analysis efforts. The platform streamlines research and can bring families and patients closer to answers and potential treatments.

Access to
Testing

Many rare disease patients face significant barriers to obtaining appropriate genetic testing and expert interpretation. Virtual Geneticist helps expand genetic testing opportunities by removing many of the bottlenecks that limit access including interpretation time, literature review, and shortages of qualified geneticists and counselors.

As genomic testing becomes more powerful, patients and advocacy organizations face the challenge of ensuring those breakthroughs reach the families who need them most while overcoming chronic shortages of qualified specialists, barriers to access, and interpretation bottlenecks that leave too many cases unresolved and too many families without answers.

Designed for Complex, Multi-Stakeholder
Genomic Programs

Match Virtual Geneticists to Your Workflow

Choose the solution that best fits your needs. From an AI-powered research agent to full end-to-end genomic analysis, Virtual Geneticist offers 4 distinct modules that can be easily accessed and customized based on needs and budgets.

Strengthen Evidence Review

By continuously integrating the latest scientific publications and studies into the platform’s AI models, Virtual Geneticist helps resolve previously uncertain results across a spectrum of challenging genomic variant types and regions.

Support Transparent Decision-Making

For families and the healthcare providers who have spent years searching for answers for their patients, Virtual Geneticist identifies and highlights the most relevant studies for a patient’s condition even in instances where new evidence is just starting to emerge or is buried deep within the literature.

Secure Integration into Existing Systems

The understanding of genetic variants and their implications is continuously changing and test results from only a few years ago may be already out-of-date. Re-analysis powered by Virtual Geneticist provides patients and their families with new confidence and opportunities to receive the correct genetic diagnosis.

Core Capabilities

01 Resolution of Complex and Previously Negative Cases

Virtual Geneticist outperforms other platforms with advanced tools to resolve difficult and previously unsolved cases and boost overall diagnostic yield

02 Text-based AI Agent for Genomics Research

The AI Genetics Research Agent leverages a fully-indexed and comprehensive genomics-specific database to deliver insights on any genetics-related query with clear reasoning and citations and opportunities for intelligent follow-up.
 

03 Automated Literature Review and ACMG Classification

Virtual Geneticist includes a fully-integrated interpreted literature database with instant access to more than 15 million structured variant publications.

The platform’s up-to-date ACMG Classification System features multi-factorial scoring, citation-backed evidence, and optional phenotype entry.

04 Fine-tuned Interpretation of Patient Clinical Notes

Virtual Geneticist incorporates an advanced evaluation of patient clinical notes to help narrow down the underlying genetic cause of a patient’s condition and improve accuracy of test results.

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.

Breakthrough Genomics is a proud partner of the Help Undiagnosed Children Foundation

The Help Undiagnosed Children Foundation's mission is to support sick children in medical and financial need to access essential genetic testing and re-analysis services. By deploying Virtual Geneticist on difficult rare- disease cases, the company has helped the foundation provide dozens of children and their families with the correct diagnoses and a real chance to live their most fulfilling lives.

Every Case Solved is a Life Changed. Solve more cases with Virtual Geneticist.

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