Pure Genetic Medical and Breakthrough Genomics introduces AI-powered Virtual Geneticist

As whole genome and whole exome sequencing become increasingly integrated into genomic medicine, one of the biggest challenges is no longer generating genomic data, but interpreting it efficiently, a complex, specialist and resource-intensive process. Virtual Geneticist^® is designed to address this bottleneck.

Built on five complementary AI models refined over seven years, the platform combines phenotype-driven analysis, variant prioritization and scientific evidence to accelerate disease-focused genomic interpretation, reduce manual curation and help identify diagnoses in previously unresolved cases.

Going beyond variant filtering, Virtual Geneticist brings a substantial body of interpreted genomic evidence directly into the analysis workflow. The platform has classified more than 180 million variants and provides instant access to over 15 million interpreted variant publications, helping specialists rapidly identify the evidence most relevant to an individual case.

Virtual Geneticist can deliver interpretation up to 10 times faster, while supporting ACMG/ClinGen classification and keeping specialist expertise and clinical judgement at the centre of decision-making.

Demonstrated performance

The potential of this approach has been demonstrated across independent genomic datasets. In an evaluation of approximately 800 whole exome sequencing cases at BC Children's Hospital in Canada, Virtual Geneticist ranked the diagnostic variant within its top 10 candidates in 99% of diagnosed cases. Re-analysis of previously unresolved cases increased the reported diagnostic yield from approximately 50% to 60%.

In a separate independent head-to-head evaluation conducted by Baylor Genetics, compared whole genome sequencing analysis across six leading genomic interpretation platforms. Across a range of variant types, Virtual Geneticist ranked first for correctly identifying disease-causing variants in the top position, achieving a double-digit performance advantage over the closest competing platform.

Tackling the cost and capacity challenge

Virtual Geneticist brings key elements of variant prioritization, evidence gathering, classification support and reporting together within a single cloud-based environment, reducing repetitive manual work and reliance on multiple separate tools.

This integrated approach is an important differentiator for Virtual Geneticist. Rather than adding another individual tool to an already complex genomic workflow, the platform is designed to consolidate key interpretation activities and incorporate functions that currently represent separate operational and software costs.

With no additional sequencing hardware or consumables required, the platform can scale as analysis volumes increase, helping genomic services increase interpretation capacity without a proportional increase in specialist staffing and operational costs.

Introducing Virtual Geneticist to the UK and Europe

Virtual Geneticist is now being introduced to genomic laboratories, clinical teams and healthcare systems across the UK and Europe through Pure Genetic Medical, supporting integration into existing workflows as genomic testing volumes continue to grow.

Want the latest science news straight to your inbox? Become a SelectScience member for free today>>