EBioMedicine (Apr 2025)
Reporting of molecular test results from cell-free DNA analyses: expert consensus recommendations from the 2023 European Liquid Biopsy Society ctDNA WorkshopResearch in context
- Vincent D. de Jager,
- Patrizio Giacomini,
- Jennifer A. Fairley,
- Rodrigo A. Toledo,
- Simon J. Patton,
- Simon A. Joosse,
- Claudia Koch,
- Zandra C. Deans,
- Klaus Pantel,
- Ellen Heitzer,
- Ed Schuuring,
- Sofia Agelaki,
- Claus Lindbjerg Andersen,
- Daniel Andersson,
- Beatriz Bellosillo,
- Inger Riise Bergheim,
- Daan van den Broek,
- Zandra C. Deans,
- Els Dequeker,
- Jennifer A. Fairley,
- Beatriz García Peláez,
- Patrizio Giacomini,
- Alastair Greystoke,
- Ariane Hallermayr,
- Ellen Heitzer,
- T. Jeroen N. Hiltermann,
- Michael Hubank,
- Stefano Indraccolo,
- Vincent D. de Jager,
- Simon A. Joosse,
- Laura Keller,
- Matthew Krebs,
- Marjolijn Ligtenberg,
- Leandro Lo Cascio,
- Miguel A. Molina-Vila,
- Krystyna Nahlik,
- Michael Neumaier,
- Björn Nowack,
- Anca Oniscu,
- Stephan Ossowski,
- Andre Oszwald,
- Niels Pallisgaard,
- Klaus Pantel,
- Simon J. Patton,
- Mads Heilskov Rasmussen,
- Etienne Rouleau,
- Amit Roshan,
- Mitja Rot,
- Helene Schlecht,
- Ed Schuuring,
- Ulrich Schüller,
- Laxmi Silwal-Pandit,
- Holger Sültmann,
- Philippe Taniere,
- Rodrigo Toledo,
- Nora Wuerdemann
Affiliations
- Vincent D. de Jager
- Department of Pathology and Medical Biology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
- Patrizio Giacomini
- UOSD Medicina di Precisione in Senologia, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Member of the European Liquid Biopsy Society (ELBS) ctDNA Working Group, Hamburg, Germany
- Jennifer A. Fairley
- GenQA, Department of Laboratory Medicine, NHS Lothian, Nine, Edinburgh Bioquarter, 9 Little France Road, Edinburgh, EH16 4SA, United Kingdom
- Rodrigo A. Toledo
- Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
- Simon J. Patton
- EMQN CIC, Unit 4, Enterprise House, Manchester Science Park, Pencroft Way, Manchester, M15 6SE, United Kingdom
- Simon A. Joosse
- Department of Tumor Biology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany; Mildred Scheel Cancer Career Center HaTriCS4, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany
- Claudia Koch
- Department of Tumor Biology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany; European Liquid Biopsy Society (ELBS), University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany; Mildred Scheel Cancer Career Center HaTriCS4, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany
- Zandra C. Deans
- GenQA, Department of Laboratory Medicine, NHS Lothian, Nine, Edinburgh Bioquarter, 9 Little France Road, Edinburgh, EH16 4SA, United Kingdom
- Klaus Pantel
- Department of Tumor Biology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany; European Liquid Biopsy Society (ELBS), University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany; Mildred Scheel Cancer Career Center HaTriCS4, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany
- Ellen Heitzer
- Member of the European Liquid Biopsy Society (ELBS) ctDNA Working Group, Hamburg, Germany; Institute of Human Genetics, Diagnostic & Research Center for Molecular BioMedicine, Medical University of Graz, Graz, Austria; Christian Doppler Laboratory for Liquid Biopsies for Early Detection of Cancer, Medical University of Graz, Graz, Austria; Corresponding author: Institute of Human Genetics, Diagnostic & Research Center for Molecular BioMedicine, Medical University of Graz Neue, Stiftingtalstrasse 6, Graz, 8010, Austria.
- Ed Schuuring
- Department of Pathology and Medical Biology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; Member of the European Liquid Biopsy Society (ELBS) ctDNA Working Group, Hamburg, Germany; Corresponding author. Department of Pathology and Medical Biology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
- Sofia Agelaki
- Claus Lindbjerg Andersen
- Daniel Andersson
- Beatriz Bellosillo
- Inger Riise Bergheim
- Daan van den Broek
- Zandra C. Deans
- Els Dequeker
- Jennifer A. Fairley
- Beatriz García Peláez
- Patrizio Giacomini
- Alastair Greystoke
- Ariane Hallermayr
- Ellen Heitzer
- T. Jeroen N. Hiltermann
- Michael Hubank
- Stefano Indraccolo
- Vincent D. de Jager
- Simon A. Joosse
- Laura Keller
- Matthew Krebs
- Marjolijn Ligtenberg
- Leandro Lo Cascio
- Miguel A. Molina-Vila
- Krystyna Nahlik
- Michael Neumaier
- Björn Nowack
- Anca Oniscu
- Stephan Ossowski
- Andre Oszwald
- Niels Pallisgaard
- Klaus Pantel
- Simon J. Patton
- Mads Heilskov Rasmussen
- Etienne Rouleau
- Amit Roshan
- Mitja Rot
- Helene Schlecht
- Ed Schuuring
- Ulrich Schüller
- Laxmi Silwal-Pandit
- Holger Sültmann
- Philippe Taniere
- Rodrigo Toledo
- Nora Wuerdemann
- DOI
- https://doi.org/10.1016/j.ebiom.2025.105636
- Journal volume & issue
-
Vol. 114
p. 105636
Abstract
Summary: The implementation of circulating tumor DNA (ctDNA) in the diagnostic routine may enable non-invasive predictive biomarker testing and treatment optimization in patients who lack a suitable tumor specimen, have failed previous molecular analysis or are clinically ineligible for (re-)biopsy procedures. As the interpretation and reporting are more complex for ctDNA than conventional tissue-based NGS, there is a need for specific guidelines. These will offer support for the reporting of ctDNA test results and will facilitate optimal communication of liquid biopsy findings between diagnostic laboratories and the medical oncology team. Aiming to generate guidelines based on real-world experiences and broad perspectives, we organized a European Liquid Biopsy Society (ELBS) ctDNA workshop, in which forty-four experts and key stakeholders from different molecular diagnostics laboratories, oncology and pathology departments, as well as an IVDR specialist, convened to address significant challenges associated with the reporting of liquid biopsy test results. This report delineates the resulting consensus recommendations for ctDNA test reporting with underlying rationale and background information.
Keywords
