| Title: |
High-throughput molecular assays for inclusion in personalised oncology trials – State-of-the-art and beyond |
| Authors: |
Edsjö, Anders; Russnes, Hege G.; Lehtiö, Janne; Tamborero, David; Hovig, Eivind; Stenzinger, Albrecht; Rosenquist, Richard; Janowska, Agnieszka; Rioja, Alba López; Razzak, Ali; Lepland, Anni; Marra, Antonio; Planken, Anu; Helland, Åslaug; Patocs, Attila; Mainoli, Beatrice; Ryll, Bettina; Brasiuniene, Birute; Kazdal, Daniel; Cerina, Dora; Hult, Ebba Hallersjö; Baltruškevičienė, Edita; Vrdoljak, Eduard; Chavarria, Elena; Garralda, Elena; Aas, Eline; Bjørgo, Elisa; Voest, Emile; Curigliano, Giuseppe; Fagereng, Gro Live; Gelderblom, Hans; Verheul, Henk; Timmer, Hans; Brana, Irene; Lugowska, Iwona; Blay, Jean Yves; Oliveira, Julio; Rekker, Kadri; Toome, Kadri; Jalkanen, Katriina; Taskén, Kjetil; Smeland, Knut; Ojamaa, Kristiina; Rohrberg, Kristoffer Staal; Verlingue, Loic; Antouly, Manon; Mustonen, Mika; Zagami, Paola; Nagy, Péter; Nygren, Peter; Asplund, Peter; Sabaliauskaite, Rasa; Henrique, Rui; van Waalwijk van Doorn-Khosrovani; Sahar Barjesteh; Brabrand, Sigmund; Ekman, Simon; Mohammad, Soemeya Haj; Jarmalaite, Sonata; Juslin, Tanja; Kahre, Tiina; Kringelbach, Tina; Guren, Tormod; Lassen, Ulrik; Grolmusz, Vince Kornél; Alberu, Xenia Villabour |
| Contributors: |
HUS Comprehensive Cancer Center; Department of Oncology |
| Publisher Information: |
Wiley |
| Publication Year: |
2025 |
| Collection: |
Helsingfors Universitet: HELDA – Helsingin yliopiston digitaalinen arkisto |
| Subject Terms: |
biomarkers; clinical trials; omics technologies; personalised oncology; precision cancer medicine; precision diagnostics; Cancers |
| Description: |
In the last decades, the development of high-throughput molecular assays has revolutionised cancer diagnostics, paving the way for the concept of personalised cancer medicine. This progress has been driven by the introduction of such technologies through biomarker-driven oncology trials. In this review, strengths and limitations of various state-of-the-art sequencing technologies, including gene panel sequencing (DNA and RNA), whole-exome/whole-genome sequencing and whole-transcriptome sequencing, are explored, focusing on their ability to identify clinically relevant biomarkers with diagnostic, prognostic and/or predictive impact. This includes the need to assess complex biomarkers, for example microsatellite instability, tumour mutation burden and homologous recombination deficiency, to identify patients suitable for specific therapies, including immunotherapy. Furthermore, the crucial role of biomarker analysis and multidisciplinary molecular tumour boards in selecting patients for trial inclusion is discussed in relation to various trial concepts, including drug repurposing. Recognising that today's exploratory techniques will evolve into tomorrow's routine diagnostics and clinical study inclusion assays, the importance of emerging technologies for multimodal diagnostics, such as proteomics and in vivo drug sensitivity testing, is also discussed. In addition, key regulatory aspects and the importance of patient engagement in all phases of a clinical trial are described. Finally, we propose a set of recommendations for consideration when planning a new precision cancer medicine trial. ; Peer reviewed |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
English |
| ISBN: |
978-85-19-21766-9; 85-19-21766-4 |
| Relation: |
This work was part of WP2 within the Precision Cancer Medicine for all EU Citizens (PCM4EU) project, co\u2010funded by the EU4Health programme as part of Europe's Beating Cancer Plan (Grant No.: 101079984). Views and opinions expressed are however those of the authors only and do not necessarily reflect those of the European Union or the Health and Digital Executive Agency (HaDEA). Neither the European Union nor the granting authority can be held responsible for them.; https://hdl.handle.net/10138/592220; 85192176648; 001216879400001 |
| Availability: |
https://hdl.handle.net/10138/592220 |
| Rights: |
cc_by ; info:eu-repo/semantics/openAccess ; openAccess |
| Accession Number: |
edsbas.AC8E2008 |
| Database: |
BASE |