- Long-read RNA sequencing allows the identification of tumor alterations that may go undetected with conventional methods.
- Health in Code is the first company to develop this technology in Spain thanks to a project funded by IVACE+i with European funds.
21.05.2026
Many cancer treatments today depend on identifying very specific genetic alterations in tumors. The challenge is that some of the most relevant ones remain difficult to detect, especially in complex cancers such as sarcomas, lymphomas, and leukemias.
To improve this detection capability, Health in Code is leading a project to develop a technology based on long-read RNA sequencing, an approach that allows for more precise analysis of what is actually happening inside a tumor and which alterations are driving its growth.
The project, funded by the IVACE+i of the Valencian Regional Government, will enable Health in Code to become the first diagnostic company in Spain to incorporate this technology into clinical practice.
In this context, the Regional Minister for Innovation and Industry of the Valencian Government, Marián Cano, visited the company’s facilities in Valencia and highlighted that “this research represents an advance capable of transforming complex biomedical data into clinical decisions that improve quality of life and increase survival rates.”
From DNA to RNA: seeing what is switched on in the tumor
In precision medicine, tumor DNA analysis is used to identify mutations and guide targeted therapies. However, DNA alone does not always reflect the real activity of the disease at the time of diagnosis.
“DNA contains the genetic instructions, but RNA reveals which genes are switched on at any given moment within the tumor, that is, which ones are active and functioning. This is the central idea of transcriptomics, the study of RNA,” explains Dr. Greta Carmona Antoñanzas. “This difference is crucial in tumors with particularly complex biology, where small variations can completely change the clinical approach,” she adds.
RNA analysis is especially relevant in diseases such as sarcomas, lymphomas, and leukemias. In Ewing sarcoma, for example, the identification of alterations such as gene fusions is essential to correctly classify the tumor and access specific therapies or clinical trials. In the vast majority of cases, approximately 95%, a characteristic gene fusion is detected.
Reading full molecules instead of fragments
The key technological difference lies in how RNA is read. Traditional techniques work like a puzzle: they sequence small fragments that must later be reconstructed. In contrast, long-read sequencing allows full RNA molecules to be analyzed, providing a more continuous and precise view of the alterations present in the tumor.
This advance has a direct impact on clinical practice: “It increases diagnostic rates and resolves cases that were previously inconclusive. By identifying alterations that may serve as therapeutic targets, it improves clinical decision-making and can change the prognosis for many patients,” explains Dr. Alejandra Larrieux.
In some studies, incorporating RNA analysis has allowed up to 15% of certain sarcomas to be reclassified by identifying previously undetected alterations.
A leap from research to clinical practice
Until a few years ago, this type of analysis was almost exclusively limited to research due to its technical complexity and cost. Its gradual incorporation into clinical practice opens the door to identifying alterations that could previously go unnoticed and to refining the selection of targeted therapies.
The advancement of these technologies reinforces the role of RNA sequencing as a key tool for better understanding tumor biology and adapting treatments to each patient’s real disease behavior.
