Co-Creating Communication Tools for Early Detection in the SANGUINE Project

Vilnius University Hospital Santaros Klinikos is actively enrolling patients with haematological malignancies into the ongoing SANGUINE clinical trial. The study focuses on improving diagnostic precision and risk stratification for patients with acute myeloid leukaemia (AML) and myelodysplastic syndromes (MDS).

As part of the trial, newly diagnosed AML and MDS patients are undergoing targeted tumour sequencing using a next-generation sequencing (NGS) assay developed in-house by the hospital’s research team. This assay and its accompanying analysis pipeline are designed to detect the most frequently mutated genes associated with these haematological disorders.

Looking ahead, the hospital plans to integrate Hemachip technology into the diagnostic workflow. This advancement will enable the combined analysis of genetic and methylation profiles, with the goal of further enhancing diagnostic accuracy and disease characterisation.

In parallel, researchers have also developed a genetic variation database specific to the Lithuanian population. This resource

supports more accurate interpretation of genetic findings by providing insight into local mutation frequencies and background variation.

These initiatives mark a significant step towards the success of the SANGUINE project.