Aventa Genomics, a clinical laboratory established as a joint venture between Arima Genomics and Protean BioDiagnostics, announced the launch of Aventa FusionPlus, a next-generation sequencing (NGS) test for the detection of gene fusions, translocations, and rearrangements across 361 genes from formalin-fixed, paraffin embedded (FFPE) tumor tissue. 

The Aventa FusionPlus test incorporates 3D genomics technology, leveraging the preservation of spatial proximity of fused and rearranged genes for a 100 to a 1000-fold signal amplification and identification of novel breakpoints and fusion partners. As a result, the test improves upon conventional testing methods such as fluorescent in situ hybridization (FISH) and RNA sequencing by revealing actionable biomarkers that these methodologies detect, but also biomarkers that are missed by them. 

“In previously characterized tumor specimens from patients with no known actionable driver, the Aventa FusionPlus test detected potentially actionable variants in half of the cases,” says Chris Roberts, executive director for Aventa Genomics. “The increase in diagnostic yield from detecting actionable biomarkers FISH and RNA sequencing miss, we believe, will provide more treatment options and will facilitate improved patient management.”

The test also utilizes proprietary analysis and reporting platforms to deliver a comprehensive assessment of the tumor.

“The Aventa FusionPlus test is unique in the market, and we believe it offers physicians a powerful new tool to reveal druggable targets and resolve diagnostic dilemmas,” says Anthony Magliocco, MD, FRCPC, FCAP, medical director for Aventa Genomics. “We are happy to make this innovative, clinically impactful, precision laboratory developed diagnostic test available to treating physicians for the benefit of their patients.”

Aventa’s testing service is performed in its CLIA-certified laboratory in Orlando, Florida.

“This first clinical application of 3D genomics marks a significant milestone in our journey from enabling genomic discoveries to now assisting patient diagnosis and therapy selection,” says Sid Selvaraj, CEO of Arima Genomics. “We thank Protean BioDiagnostics for this joint venture, and we believe that this is only the beginning for the use of 3D genomics technology in the clinical space.”

Further reading: NGS, Depletion Technology Could Improve Testing, Pandemic Response