Newsletter: Transcriptomics in clinical settings expands rapidly

A wave moving forward 

The use of molecular diagnostics and transcriptomics for improved diagnostics is increasing rapidly. A range of Scientific findings highlight their importance, and they also feature in guidelines for ALL and AML from WHO and ICC.1 However, many organizations and labs are lacking the up to date analysis solutions, utilizing modern AI-based machine learning for disease subtyping, required to deliver improved diagnostics and precision medicine. 

There are more than 1000 gene fusions that are believed to impact cancer. When reviewing acute leukemia in isolation, there are over 200 recurrently described gene fusions RNA-seq based techniques are efficient in detecting gene fusions.2 

Gene fusions are highly relevant in solid tumors and one example is the recent Phase 3 THOR study.3 The conclusion is that for metastatic urothelial cancer patients, with select fibroblast growth factor receptor alterations (fusions), erdafitinib significantly increases overall survival.  

This is where Qlucore can help. We offer Qlucore Insights (research use only) with models for four areas: BCP-ALL, AML, urothelial and lung cancer. For each model we include both gene expression-based subtyping as well as gene fusion analysis.  

Get in touch today and prepare for the next steps in improved and cost-efficient cancer diagnostics. 

1) One example is in the article “Diagnostics classification of childhood cancer using transcriptomics" by F Comitani et al. Nature Medicine Volume 29, March 2023.  

2) Transcriptomics paving the way for improved diagnostics and precision medicine of acute leukemia”, Lilljebjörn et Al, Seminars in Cancer Biology 84, 2022. 

3) ASCO 2023 Annual Meeting II.

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