Qlucore Newsletter: RNA Sequencing is Transforming Diagnostics

RNA sequencing (RNA-seq) is rapidly proving its value in diagnostics, offering insights into gene expression, fusions, and mutations. 

A large-scale study published in Nature Medicine, analyzing approximately 2,000 tumor samples, demonstrated that targeted RNA-seq not only matches DNA-based diagnostics but often surpasses them. It excels at detecting gene fusions, splice mutations, and expression changes, delivering actionable data for 87% of patients, and directly influencing treatment plans (1). A study in The British Journal of Haematology showed that RNA-seq enabled classification of ~70% of B-cell acute lymphoblastic leukemia (B-ALL) cases that standard methods could not, significantly improving risk stratification and guiding treatment decisions (2). Further supporting this, a recent publication in The Lancet Discovery Science suite of journals by Tang et al. confirmed RNA-seq’s role in subtyping hematologic neoplasias and in identifying high-risk patients (3).

Implementing RNA-seq into clinical practice is now also straightforward. Qlucore Diagnostics software from Qlucore, is the first CE-marked RNA-seq based diagnostic test for pediatric leukemia under Europe’s IVDR framework. It is available and used by customers. The solution is based on standard RNA-seq lab workflows and kits.

References

1. Siddaway, R., Glembocki, A. I., Arnoldo, A., et al. (2025). Clinical utility of targeted RNA sequencing in cancer molecular diagnostics. Nature Medicine.
2. Vicente-Garcés, C., Fernández, G., Esperanza-Cebollada, E., et al. (2025). RNA-sequencing: A reliable tool to unveil transcriptional landscape of paediatric B-other acute lymphoblastic leukaemia. British Journal of Haematology.
3. Tang, M., Antić, Ž., Fardzadeh, P., et al. (2024). An artificial intelligence-assisted clinical framework to facilitate diagnostics and translational discovery in hematologic neoplasia. eBioMedicine.