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Thoas Fioretos

Thoas Fioretos

Research team manager

Thoas Fioretos

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 Orsmark-Pietras
  • Linda Fogelstrand
  • Jonas Abrahamsson
  • Irina Golovleva
  • Helene Hallböök
  • Vladimir Lazarevic
  • Lars Åke Levin
  • Jessica Nordlund
  • Ulrika Norèn-Nyström
  • Josefine Palle
  • Tharshini Thangavelu
  • Lars Palmqvist
  • Valtteri Wirta
  • Lucia Cavelier
  • Thoas Fioretos
  • Richard Rosenquist

Summary, in English

Background: Whole-genome sequencing (WGS) and whole-transcriptome sequencing (WTS), with the ability to provide comprehensive genomic information, have become the focal point of research interest as novel techniques that can support precision diagnostics in routine clinical care of patients with various cancer types, including hematological malignancies. This national multi-center study, led by Genomic Medicine Sweden, aims to evaluate whether combined application of WGS and WTS (WGTS) is technically feasible and can be implemented as an efficient diagnostic tool in patients with acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). In addition to clinical impact assessment, a health-economic evaluation of such strategy will be performed. Methods and Analysis: The study comprises four phases (i.e., retrospective, prospective, real-time validation, and follow-up) including approximately 700 adult and pediatric Swedish AML and ALL patients. Results of WGS for tumor (90×) and normal/germline (30×) samples as well as WTS for tumors only will be compared to current standard of care diagnostics. Primary study endpoints are diagnostic efficiency and improved diagnostic yield. Secondary endpoints are technical and clinical feasibility for routine implementation, clinical utility, and health-economic impact. Discussion: Data from this national multi-center study will be used to evaluate clinical performance of the integrated WGTS diagnostic workflow compared with standard of care. The study will also elucidate clinical and health-economic impacts of a combined WGTS strategy when implemented in routine clinical care. Clinical Trial Registration: [], identifier [ISRCTN66987142].


  • LUCC: Lund University Cancer Centre
  • Translational Genomic and Functional Studies of Leukemia
  • Division of Clinical Genetics

Publishing year







Frontiers in Medicine



Document type

Journal article


Frontiers Media S. A.


  • Cancer and Oncology


  • acute lymphoblastic leukemia
  • acute myeloid leukemia
  • clinical utility
  • diagnostic efficiency
  • health-economic evaluation
  • technical feasibility
  • whole-genome sequencing
  • whole-transcriptome sequencing



Research group

  • Translational Genomic and Functional Studies of Leukemia


  • ISSN: 2296-858X