USA –Breakthrough Genomics is set to launch an enhanced version of its fully automated genome reader, Virtual Geneticist (VG), aimed at transforming clinical genomic interpretation and speeding up the diagnosis of rare diseases.
The innovative platform, which will be available to users free of charge, is designed to democratize access to genomic analysis and provide a powerful tool for clinicians in the U.S. and around the world.
Virtual Geneticist (VG) has been revamped with a more intuitive and user-friendly interface, allowing healthcare providers to easily input both clinical and genomic data and receive diagnostic results in a matter of minutes.
Unlike traditional genomic tools that often require cumbersome onboarding processes, VG provides a streamlined experience that makes it simple for clinicians to analyze new genomic test results or review previous tests—particularly in cases where no clear diagnosis was initially identified.
This breakthrough innovation is crucial in the fight against rare and undiagnosed diseases, where accurate and timely genetic analysis can drastically impact patient outcomes.
Impact on pediatric diagnoses
A 2023 study conducted by British Columbia Children’s Hospital highlighted VG’s effectiveness in solving previously unsolved pediatric cases.
The study found that VG helped clinicians solve 10% more cases that were previously reported as negative.
Importantly, VG was able to correctly identify the causal variant in 99% of cases listed on a Top 10 List of potential variants.
This is a significant advancement in genetic testing, as identifying the right variant quickly can help clinicians avoid false negatives and provide timely treatment options for patients, especially infants and children.
Dr. Adrienne Elbert, MD, PhD, who led the study, emphasized the advantages of using VG in clinical practice: “Variant interpretation is becoming increasingly more complex, so having a tool like Virtual Geneticist allows me to quickly see how different phenotype terms selected for the analysis influence the ranking of the variants and contextualize any reported variants of unknown significance (VUS).”
AI-powered precision in genetic analysis
VG leverages artificial intelligence to significantly enhance variant analysis, providing clinicians with advanced tools to quickly and accurately interpret genomic data.
One of its standout features is the platform’s ability to instantly read and interpret variant classifications from individual publications, saving valuable time and improving diagnostic efficiency.
In addition, VG’s AI-powered tools allow for more in-depth analysis, such as predicting the impact of variants on 3D protein structures and identifying difficult-to-diagnose conditions like trinucleotide repeat expansions and spinal muscular atrophy.
These capabilities help clinicians gain insights into complex genetic disorders that might otherwise go undetected.
Laura Li, PhD, founder and CEO of Breakthrough Genomics, highlighted the role of AI in optimizing VG’s performance: “As a medical geneticist, I used to spend many hours on each case, pouring through different databases and publications. With VG, these once critical tasks are now performed effortlessly, with a precision far beyond what a person alone can accomplish.”
Empowering clinicians without bioinformatics expertise
Breakthrough Genomics aims to attract a wide range of users, from medical doctors to clinicians who might not typically engage in variant analysis.
The platform’s simple, non-technical interface makes it accessible even to those without specialized bioinformatic expertise, allowing them to verify results and make informed decisions about patient care.
Dr. Cornelius Boerkel, MD, PhD, of BC Children’s Hospital, shared his experience with VG: “As a medical geneticist, I’m often perplexed by negative genetic test reports when I’m convinced the patient has a genetic disorder.
“By using Virtual Geneticist, I can analyze the data files from commercial labs and independently verify the most likely variants responsible for the patient’s condition.”
A game-changer for rare disease diagnosis
VG’s capabilities represent a major leap forward in the field of clinical genomics, particularly for rare disease diagnosis.
The ease of use, AI-powered tools, and speed of results make it an indispensable asset for clinicians, helping them make faster and more accurate diagnoses and ultimately improving patient outcomes.
By making this platform publicly available and free of charge, Breakthrough Genomics is ensuring that cutting-edge genomic analysis becomes more accessible to clinicians worldwide, transforming the way rare diseases are diagnosed and treated.
