Published: 28-05-2020 09:59 | Updated: 28-05-2020 09:59

Joint effort to develop whole-genome sequencing for patients with acute leukemia

Illustration of DNA helix in the blood.

A new study has been initiated to evaluate whole-genome and RNA-sequencing as a first line diagnostic approach for patients in Sweden with acute leukemia. The study is conducted jointly by the national R&D platform Genomic Medicine Sweden and the biotech company Illumina – and is coordinated from Karolinska Institutet.

Richard Rosenquist Brandell, photo: Creo Media Group

The aim of the study is to assess the potential of these sequencing approaches to replace current diagnostic methods in order to simplify diagnostic procedures and increase sensitivity of patient follow-up. Principal Invaestigator is Richard Rosenquist Brandell, PhD, Professor at the Department of Molecular Medicine and Surgery, Karolinska Institutet, Senior Physician at the Karolinska University Hospital, and also the Director of Genomic Medicine Sweden (GMS).

In this national study, WGS and RNA-sequencing will be run in parallel with existing clinical diagnostic tests to evaluate whether this sequencing approach identifies all clinically relevant aberrations. The WGS and RNA-sequencing approach also enables more detailed information to be acquired from each patient. This will result in better opportunities to monitor patients over time in order to follow treatment response and possible relapse.

Sequencing data expertise

The study will include approximately 450 patients, corresponding to the number of all adult and pediatric patients diagnosed with acute leukemia in Sweden each year. All patients in Sweden diagnosed with acute leukemia by current diagnostic methods will be offered the opportunity to participate in the sequencing study. Illumina will provide materials for the project, contribute to the Health Economics and Outcomes Research analysis, support with bespoke sequencing data expertise and advise on systems infrastructure.

“In addition to the direct value for patients in diagnosis and monitoring of disease, this population-based study will generate invaluable data that will allow us to better understand the biology and pathology of leukemia. Our hope is that the combination of WGS and RNA-sequencing can also identify new genetic aberrations in the non-coding part of the genome that will increase our understanding of acute leukemia”, said Richard Rosenquist Brandell in a press release from GSM and Illumina.

Learn more about this project at the GMS website