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
- Siddaway, R., Glembocki, A. I., Arnoldo, A., et al. (2025). Clinical utility of targeted RNA sequencing in cancer molecular diagnostics. Nature Medicine.
- 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.
- 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.