Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology
Precision oncology offers new cancer treatment options, yet sequencing methods vary in type and scope. In this study, we compared whole-exome/whole-genome (WES/WGS) and transcriptome sequencing (TS) with broad panel sequencing by resequencing the same tumor DNA and RNA as well as normal tissue DNA for germline assessment, from 20 patients with rare or advanced tumors, who were originally sequenced by WES/WGS ± TS within the DKFZ/NCT/DKTK MASTER program from 2015 to 2020. Molecular analyses resulted in a median number of 2.5 (gene panel) to 3.5 (WES/WGS ± TS) treatment recommendations per patient. Our results showed that approximately half of the therapy recommendations (TRs) of both sequencing programs were identical, while approximately one-third of the TRs in WES/WGS ± TS relied on biomarkers not covered by the panel. Eight of 10 molecularly informed therapy implementations were supported by the panel, the remaining two were based on biomarkers absent from the panel, highlighting the potential additional clinical benefit of WGS and TS.
Authors
- Daniel Hübschmann (ORCID: https://orcid.org/0000-0002-6041-7049)
- Stefan Fröhling (ORCID: https://orcid.org/0000-0001-7907-4595)
- Christoph E. Heilig (ORCID: https://orcid.org/0000-0001-8869-1421)
- Irina A. Kerle (ORCID: https://orcid.org/0000-0002-3650-488X)
- Hanno Glimm
- Maria‐Veronica Teleanu (ORCID: https://orcid.org/0000-0002-2176-6158)
- Daniela Richter (ORCID: https://orcid.org/0000-0002-8098-3179)
- Jan‐Niklas Eckardt (ORCID: https://orcid.org/0000-0002-3649-2823)
- Barbara Hutter (ORCID: https://orcid.org/0000-0002-9034-0329)
- Thomas Groß (ORCID: https://orcid.org/0000-0001-9617-6606)
- Mario Hlevnjak (ORCID: https://orcid.org/0000-0002-7766-0352)
- Peter Horak (ORCID: https://orcid.org/0000-0003-4536-9306)
- Lino Möhrmann (ORCID: https://orcid.org/0000-0003-4650-6827)
- Evelin Schröck (ORCID: https://orcid.org/0000-0002-3377-1704)
- Anja Kögler (ORCID: https://orcid.org/0000-0003-4270-4762)
- Simon Kreutzfeldt (ORCID: https://orcid.org/0000-0003-3278-4586)
- Dorothea Hanf (ORCID: https://orcid.org/0000-0001-9636-5378)
- Christoph Heining (ORCID: https://orcid.org/0000-0002-1256-8387)
- Maximilian Werner (ORCID: https://orcid.org/0000-0003-0252-5057)
- Jennifer Hüllein
- Jonathan Arnold (ORCID: https://orcid.org/0000-0001-5845-1048)
- M. Arlt
- Martin Schneider (ORCID: https://orcid.org/0000-0002-5501-4050)
- Elena E. Möhrmann
Institutions
- German Cancer Research Center (DE)
- Heidelberg University (DE)
- Helmholtz-Zentrum Dresden-Rossendorf (DE)
- University Hospital Heidelberg (DE)
- German Cancer Society (DE)
- Fresenius (Germany) (DE)
- National Center for Tumor Diseases (DE)
- DKFZ-ZMBH Alliance (DE)
- Heidelberg Institute for Stem Cell Technology and Experimental Medicine (DE)
- Max Planck Institute of Molecular Cell Biology and Genetics (DE)
- University Hospital Carl Gustav Carus (DE)
- Deutsches Konsortium für Translationale Krebsforschung (DE)
- Technische Universität Dresden (DE)
Publication Details
- Journal
- npj Precision Oncology
- Published
- 2025-01-10
- DOI
- https://doi.org/10.1038/s41698-024-00788-3
- Citations
- 9
- Primary Topic
- Cancer Genomics and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 8.43
Funders
- Deutsches Krebsforschungszentrum
- Deutschen Konsortium für Translationale Krebsforschung
- Heidelberger Zentrum für Personalisierte Onkologie Deutsches Krebsforschungszentrum In Der Helmholtz-Gemeinschaft