Collaboration with Illumina to develop new diagnostics for acute leukemia


In a new collaborative study between Illumina and Genomic Medicine Sweden (GMS), whole-genome and RNA sequencing will be evaluated as primary diagnostic methods for acute leukemia patients in Sweden. The aims of the study are to simplify the diagnostics pipeline, as well as being able to offer better follow-up of the patients.

The national initiative GMS, which Clinical Genomics Uppsala (CGU) is part of, announced that the new study will be a collaboration with the biotech company Illumina and led by professor Richard Rosenquist Brandell (SciLifeLab/KI), chair of GMS. The sequencing and bioinformatic analyses will be carried out at the various Clinical Genomics facilities at SciLifeLab’s Diagnostics Development platform.

The study will include approx. 450 patients with acute leukemia.  The patients will have whole-genome sequencing and RNA sequencing performed on their samples, as well as the existing standard diagnostic methods. The data generated will be used not only to directly benefit the patients, but also will contribute to valuable population-based  data collection to allow a better understanding of the disease.

In the study, whole-genome sequencing, RNA sequencing, and existing clinical diagnostic methods will be conducted in parallel in order to evaluate if the sequencing methods are able to find all clinically relevant abnormalities in the genetic mass. Whole-genome sequencing will also provide more detailed information from each patient, leading to a better follow-up and risk of relapse assessment.

Read more about the study in the press release from GMS here.

Last modified: 2024-02-23