Lund University Publications

@article{68d86b85-4910-4a80-8363-e0eadd2bb330,
  abstract     = {{<p>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].</p>}},
  author       = {{Berglund, Eva and Barbany, Gisela and Orsmark-Pietras, Christina and Fogelstrand, Linda and Abrahamsson, Jonas and Golovleva, Irina and Hallböök, Helene and Lazarevic, Vladimir and Levin, Lars Åke and Nordlund, Jessica and Norèn-Nyström, Ulrika and Palle, Josefine and Thangavelu, Tharshini and Palmqvist, Lars and Wirta, Valtteri and Cavelier, Lucia and Fioretos, Thoas and Rosenquist, Richard}},
  issn         = {{2296-858X}},
  keywords     = {{acute lymphoblastic leukemia; acute myeloid leukemia; clinical utility; diagnostic efficiency; health-economic evaluation; technical feasibility; whole-genome sequencing; whole-transcriptome sequencing}},
  language     = {{eng}},
  pages        = {{1--9}},
  publisher    = {{Frontiers Media S. A.}},
  series       = {{Frontiers in Medicine}},
  title        = {{A Study Protocol for Validation and Implementation of Whole-Genome and -Transcriptome Sequencing as a Comprehensive Precision Diagnostic Test in Acute Leukemias}},
  url          = {{http://dx.doi.org/10.3389/fmed.2022.842507}},
  doi          = {{10.3389/fmed.2022.842507}},
  volume       = {{9}},
  year         = {{2022}},
}