Breakthrough Genomics Looks to Disrupt Rare Disease Diagnosis by Offering its Powerful Virtual Geneticist™ Platform for Free

News provided by

Oct 08, 2024, 10:01 ET

IRVINE, Calif., Oct. 8, 2024 /PRNewswire/ -- Breakthrough Genomics - a leader in the clinical interpretation of genomic data - is set to launch a new version of its fully-automated, industry-leading genome reader Virtual Geneticist™ (VG). By making VG publicly available and free of cost, the company aims to democratize clinical genomic interpretation and accelerate rare disease diagnosis for patients and their families both in the U.S. and overseas.

The newly designed VG platform has a super-streamlined interface, allowing users to enter basic clinical information and the accompanying genomic data, and receive the correct results in minutes. Users will see that VG's stripped-down landing page functions more like a Google Search rather than the cumbersome and overly complicated onboarding procedures required by its competitors. This means VG can be easily used as a tool to analyze new genomic testing data or double-check results from prior tests, especially for cases when no diagnostic variant was identified.

A 2023 study conducted by clinicians at British Columbia Children's Hospital found that using VG helped them solve an additional 10% pediatric cases previously reported as negative. This is critical because a false negative report can often prevent newborns and children from receiving the most appropriate treatment or the clinical interventions they need. In the same study, VG was able to correctly identify the causal variant in a Top 10 List 99% of the time. Not only does this save a geneticist tedious work in sifting through unlikely variants, but it also enables them to quickly zero in and review the supporting evidence for the variants most likely responsible for the patient's condition.

Dr. Adrienne Elbert, who led the study at BC Children's Hospital, highlighted VG's ability to help clinicians like herself add more transparency to the process of variant interpretation, "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 influences the ranking of the variants and it also allows me to contextualize any reported variant of unknown significance (VUS)."

Dr. Laura Li, founder and CEO of Breakthrough Genomics, stresses the role that AI plays in VG's ability to maximize efficiency and performance in evaluating difficult cases. "As a medical geneticist, I used to spend many hours on each case pouring through the different databases and publications, but with VG these once critical tasks can now be performed effortlessly and with a precision that is far beyond what a person alone can accomplish."

One example of how VG stands out from other platforms is its ability to instantaneously read and interpret variant classifications contained within individual publications. This saves users a significant amount of time and allows them to use the platform's other AI-powered tools for further analyses, including prediction of a variant's effect on 3D protein structure and detection of previously hard-to-diagnose conditions such as trinucleotide repeat expansions and spinal muscular atrophy.

Breakthrough Genomics aims to attract a wide variety of users to the platform including medical doctors and clinicians who in traditional workflows do not often get involved in variant analysis.

Dr. Cornelius Boerkel at BC Children's Hospital sees the clear benefit of using VG in his practice, "As a Medical Geneticist I am frequently perplexed by negative genetic test reports that I receive back from a commercial lab when I am convinced that the patient has a genetic disorder. By using Virtual Geneticist, I am able to analyze the data files that are generated by these commercial labs and verify on my own what are the most likely variants that explain the patient's disease. The platform's straightforward interface makes it easy for me, without requiring me to understand complicated bioinformatic programming or have extensive onboarding for using a particular software tool."

Interested users can access the new free version by going to vg.btgenomics.com. For more information, contact Scott Braman - Director of Marketing and Partnerships ([email protected])

SOURCE Breakthrough Genomics