High-throughput molecular assays for inclusion in personalised oncology trials – State-of-the-art and beyond
Edsjö, A. LU
; Rosenquist, Richard
and Alberu, X.V.
(2024)
In Journal of Internal Medicine
295(6).
p.785-803
- Abstract
- 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... (More)
- 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. © 2024 The Authors. Journal of Internal Medicine published by John Wiley & Sons Ltd on behalf of Association for Publication of The Journal of Internal Medicine. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/19c4930b-cf2a-4b21-8df0-cafb1e4b350a
- author
- Edsjö, A.
LU
; Rosenquist, Richard
and Alberu, X.V.
- author collaboration
- organization
- publishing date
- 2024
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- biomarkers, clinical trials, omics technologies, personalised oncology, precision cancer medicine, precision diagnostics
- in
- Journal of Internal Medicine
- volume
- 295
- issue
- 6
- pages
- 19 pages
- publisher
- Wiley-Blackwell
- external identifiers
-
- scopus:85192176648
- pmid:38698538
- ISSN
- 0954-6820
- DOI
- 10.1111/joim.13785
- language
- English
- LU publication?
- yes
- additional info
- Number of authors = 71 EID = 85192176648 Affiliation = Grolmusz V.K., Department of Molecular Genetics and the National Tumorbiology Laboratory, National Institute of Oncology, Hungary Affiliation = Alberu X.V., Department of Oncology-Pathology, Karolinska Institutet, Science for Life Laboratory, Sweden
- id
- 19c4930b-cf2a-4b21-8df0-cafb1e4b350a
- date added to LUP
- 2024-05-14 11:08:34
- date last changed
- 2024-05-15 03:00:10
@article{19c4930b-cf2a-4b21-8df0-cafb1e4b350a,
abstract = {{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. © 2024 The Authors. Journal of Internal Medicine published by John Wiley & Sons Ltd on behalf of Association for Publication of The Journal of Internal Medicine.}},
author = {{Edsjö, A. and Rosenquist, Richard and Alberu, X.V.}},
issn = {{0954-6820}},
keywords = {{biomarkers; clinical trials; omics technologies; personalised oncology; precision cancer medicine; precision diagnostics}},
language = {{eng}},
number = {{6}},
pages = {{785--803}},
publisher = {{Wiley-Blackwell}},
series = {{Journal of Internal Medicine}},
title = {{High-throughput molecular assays for inclusion in personalised oncology trials – State-of-the-art and beyond}},
url = {{http://dx.doi.org/10.1111/joim.13785}},
doi = {{10.1111/joim.13785}},
volume = {{295}},
year = {{2024}},
}