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 will 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.

Genomic Medicine Sweden, GMS, and Illumina today announced a new collaborative study to assess whether a whole-genome (WGS) and RNA-sequencing approach can replace conventional clinical diagnostic methods for patients with acute leukemia in Sweden. The national study will be led by Richard Rosenquist Brandell, Director of GMS, Professor at Karolinska Institutet and Senior Physician in Clinical Genetics at Karolinska University Hospital.

WGS and RNA-sequencing have the potential to simplify and improve the diagnostic work-flow for patients with acute leukemia. In this 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.

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.

“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.

GMS is a Swedish national initiative for implementing broad gene sequencing into clinical routine care. This is achieved via the seven Genomic Medicine Centres that have been established at all Swedish university hospitals. For sequencing and bioinformatic analysis GMS is collaborating with the Clinical Genomics facilities at the Diagnostic Development platform at SciLifeLab.

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.

“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.

Richard Rosenquist Brandell
E-mail: richard.rosenquist@ki.se


Photo: Mikael Wallersten