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, the Clinical Genomics Platform at SciLifeLab, Genomic Medicine Sweden

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskriftPeer review


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: [https://doi.org/10.1186/ISRCTN66987142], identifier [ISRCTN66987142].

Sidor (från-till)1-9
TidskriftFrontiers in Medicine
StatusPublished - 2022

Bibliografisk information

Publisher Copyright:
Copyright © 2022 Berglund, Barbany, Orsmark-Pietras, Fogelstrand, Abrahamsson, Golovleva, Hallböök, Höglund, Lazarevic, Levin, Nordlund, Norèn-Nyström, Palle, Thangavelu, Palmqvist, Wirta, Cavelier, Fioretos and Rosenquist.

Ämnesklassifikation (UKÄ)

  • Cancer och onkologi


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