GMS and Illumina in collaboration to develop new diagnostics for acute leukemia

In a new study, whole-genome and RNA sequencing will be evaluated as primary diagnostic methods for acute leukemia patients in Sweden. The study aims to evaluate if these methods have the potential to replace existing methods and to simplify the diagnostics pipeline, as well as being able to offer better follow-up of the patients.

Genomic Medicine Sweden (GSM), a Swedish national initiative, once launched at SciLifeLab, working to implement broad gene sequencing into clinical routine care, recently announced that the new study will occur in collaboration with the biotech company Illumina. The study will be led by professor Richard Rosenquist Brandell (SciLifeLab/KI), chair of Genomic Medicine Sweden.

GMS has established Genomic Medicine Centres at all seven Swedish University hospitals and is carrying out their sequencing and bioinformatic analysis in collaboration with the Clinical Genomics units at the Diagnostic Development platform at SciLifeLab.

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.

Approximately 450 patients will be included in the study, which corresponds to the number of adults and children diagnosed with acute leukemia in Sweden each year.

“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 GMS.

Illumina will contribute to the Health Economics and Outcomes Research analysis, assist with tailor-made expertise in sequencing data, advise on system infrastructure, and provide materials for the study.

“We are proud to support this study which will potentially change the standard of care in Sweden for diagnosing this group of blood cancers,” said Paula Dowdy, General Manager, SVP, Illumina, EMEA.


Last updated: 2020-06-09

Content Responsible: Johan Inganni(