Validation of comprehensive genome sequencing as a diagnostic test in acute leukemias


The Clinical Genomics platform and Genomic Medicine Sweden has published a study protocol describing an ongoing national study aiming to assess whether whole-genome and whole-transcriptome sequencing can replace current diagnostic methods in acute leukemias. 

Whole-genome sequencing (WGS) and whole-transcriptome sequencing (WTS) provides comprehensive genomic information and can potentially support precision diagnostics in routine clinical care of patients with various cancer types. The ongoing study will include approximately 700 adult and pediatric Swedish patients with acute lymphoblastic leukemia (ALL) or acute myeloid leukemia (AML). The generated data set will be used to evaluate the clinical performance of the integrated WGT and WTS diagnostic workflow compared with current standard of care and assess whether comprehensive sequencing has the potential to replace current diagnostic methods. The primary study endpoints are diagnostic efficiency and improved diagnostic yield.

Eva Berglund and Lucia Cavelier from Clinical Genomics Uppsala contributed to designing the study and writing the study protocol. All Clinical Genomics nodes and Genomic Medicine Centers are involved in patient recruitment, sequencing and data analysis.

The study is performed in collaboration with Illumina.


A study protocol for validation and implementation of whole-genome and -transcriptome sequencing as a comprehensive precision diagnostic test in acute leukemias. Eva Berglund, Gisela Barbany, Christina O. Pietras, Linda Fogelstrand, Jonas Abrahamsson, Irina Golovleva, Helene Hallböök, Martin Höglund, Vladimir Lazarevic, Lars-Åke Levin, Jessica Nordlund, Ulrika Norèn-Nyström, Josefine Palle, Tharshini Thangavelu, Lars Palmqvist, Valtteri Wirta, Lucia Cavelier, Thoas Fioretos and Richard Rosenquist. Frontiers in Medicine. 2022. 

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Last modified: 2024-02-23