Qlucore Newsletter – Validated Whole Transcriptome Sequencing for diagnostics grade Gene Fusion Detection

Whole Transcriptome Sequencing is a valid method for diagnostic grade detection of gene fusions according to study in British Journal of Medicine

A recent publication from the Institute of Pathology, Heidelberg University Hospital, presents a comprehensive validation of whole transcriptome sequencing (WTS) for diagnostic gene fusion detection in solid tumor samples.

The study demonstrates that WTS reliably identifies both known and novel gene fusions while simultaneously providing broad transcriptomic information. According to the authors, this combined capability positions WTS as a powerful tool for improving diagnostic accuracy and supporting precision oncology. The approach is particularly valuable in tumor types with complex fusion profiles—such as cancers of unknown primary (CUP) - where novel fusions may serve as actionable biomarkers.

To establish analytical performance, the WTS workflow was benchmarked against established targeted fusion assays and achieved a concordance rate of 98.6%. When applied in routine diagnostics for 812 clinical cases, 121 gene fusions were identified across a broad spectrum of tumor entities, including non-small cell lung cancer and CUP.

The full study is available in the British Journal of Cancer: https://www.nature.com/articles/s41416-025-03307-8

The same WTS assay underpins the training data for the Qlucore Insights (RoU) Lung model, developed in collaboration with the Heidelberg research team. Powered by machine learning, the platform provides rapid, cost efficient, and objective sample interpretation. In four out of five metastatic samples, the tissue of origin (TOO) can be identified earlier, enabling more informed decisions.