Biocartis Group NV announced the publication of a new study in the Journal of Molecular Diagnosticson the Idylla™ GeneFusion Assay (RUO) for rapid detection of targetable fusions involving ALK, ROS1, RET, and NTRK1/2/3 and MET exon 14 skipping mutations. The study concluded: “The assay enables rapid screening for clinically actionable kinase alterations with quicker turnaround and lower tissue requirements compared to immunohistochemistry and molecular methods, while also circumventing the infrastructure dependencies associated with Next Generation Sequencing (NGS) and fluorescence in situ hybridization”. The study was performed by Memorial Sloan Kettering Cancer Center (NY, US), one of the large private cancer centers in the world.

Therapeutically actionable gene fusions drive approximately 10% of non-small-cell lung cancers1 (NSCLC). Up to 40% of rearrangement-driven lung cancers are diagnosed at an advanced stage (III to IV)4, however tyrosine kinase inhibitor therapy typically induces rapid and profound clinical improvement5. As such, timely recognition of these alterations is critical in the clinic.

Current methods to detect kinase fusions such as fluorescence in situ hybridization (FISH) or NGS can be complex to perform, require a large lab infrastructure, have long turnaround times and can be cumbersome when it comes to interpretation of the data. Although NGS has become the mainstay for high throughput therapeutic target search, most NGS assays have high tissue requirements, need turnaround times of 2 to 3 weeks and bring about underlying genomic and biologic complexities that can lead to false-negative gene fusion results. The study analyzed 143 independent FFPE6 tumor samples.

The study stated that “testing was successful in 142 (99%) cases”. Furthermore, the study stated that “the Idylla™ GeneFusion Assay demonstrated a sensitivity of 97% (28/29), 100% (31/31), 92% (22/24), 81% (22/27), and 100% (20/20) for ALK, RET, ROS1, and NTRK1/2/3 rearrangements and MET exon 14 skipping alterations, respectively, with 100% specificity for all.” The fully automated Idylla™ GeneFusion Assay (RUO) detects ALK, ROS1, RET, NTRK1/2/3 rearrangements and MET exon 14 skipping in a single cartridge, with less than 2 minutes hands-on time and results available in approx. 180 minutes.

The CE-IVD version of the Idylla™ GeneFusion Panel is planned for end of first half 2022.