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The Future of Genomics: Breakthrough Genomics at ASHG 2025

On October 21, 2025, Breakthrough Genomics made significant strides in the field of genomics at the American Society of Human Genetics (ASHG) Annual Meeting in Boston. Renowned for its pioneering work in AI-driven clinical genomics interpretation, the company showcased an extensive literature database alongside updates to its innovative Virtual Geneticist® platform.

Expanding the Database with AI

The highlight of Breakthrough Genomics' presentation was its largest interpreted literature database to date. Dr. Laura Li, the company's CEO, presented during a Lightning Talk Session titled "Scaling Genomic Medicine From Patient-Centered Tools to Population and Therapeutic Insights." This session focused on the power of the Virtual Geneticist® platform, which utilizes large language models (LLMs) to curate literature, classify genetic variants automatically, and generate clinical reports efficiently.

Automation in Genomic Interpretation

Dr. Li emphasized the advantages of the Virtual Geneticist® LLM in aiding geneticists and researchers in accessing reliable, current literature swiftly. This capability allows clinical laboratories to reduce the laborious hours of manual review to mere minutes, enabling clinicians to make confident decisions without compromising expert oversight. The integration of intelligent AI tools not only increases efficiency but also aims to enhance the quality of patient care.

Streamlining Diagnostic Processes

A particularly impactful aspect of the Virtual Geneticist® platform is its ability to facilitate faster diagnostic interpretation. New analyses reveal that the platform effectively aggregates various functional studies, segregation data, and case reports. This streamlining aids in applying the latest ACMG/ClinGen guidelines, helping labs shorten their review time while maintaining the integrity of expert judgment.

Enhancements for Rare Disease Diagnosis

The breakthrough models introduced during ASHG 2025 also showcased significant improvements in diagnosing rare diseases. The AI-driven approach to de novo detection and phenotype-driven variant prioritization has substantially increased the throughput of diagnostic findings for Whole Exome and Whole Genome Sequencing tests. What was once a multi-hour process can now be accomplished in a matter of minutes, signifying an enormous leap forward in diagnostic efficiency.

Introduction of Professor V

In addition to these compelling advancements, Breakthrough Genomics launched Professor V, an AI chatbot specifically engineered for geneticists and researchers. This tool enables users to explore biomedical literature dynamically, evaluate hypotheses with rigor, and summarize evidence more rapidly while eliminating chances of error or hallucination.

About Breakthrough Genomics

Established as a frontrunner in AI-enhanced clinical interpretation, Breakthrough Genomics is dedicated to transforming intricate genomic data into clear, actionable insights. The Virtual Geneticist® platform supports comprehensive workflows, ranging from genomic data ingestion and quality control to ACMG classification and clinical report drafting. This versatility ensures that labs can operate efficiently, whether deployed on-premises or via the cloud.

With its ongoing mission to optimize operations for laboratories and geneticists, Breakthrough Genomics is leading the charge to transition from labor-intensive manual reviews to streamlined, confident decision-making processes. This not only improves operational efficiency but also aims at delivering improved outcomes for patients and families globally. To delve deeper into their technology, visit Breakthrough Genomics and follow them on LinkedIn.