Pulse Brain · Growing Health Evidence Index
Tier 4 — Narrative / commentaryPeer-reviewed

Leveraging transcriptomics for precision diagnosis: Lessons learned from cancer and sepsis

Maria Tsakiroglou, A.G. Evans, Munir Pirmohamed

Frontiers in Genetics · 2023

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Summary

This narrative review synthesises evidence for the clinical implementation of transcriptomics in cancer and sepsis diagnosis. The authors highlight how RNA-based gene expression tests can capture genetic and non-genetic disease heterogeneity—exemplified by Oncotype DX in breast cancer and endotype stratification in sepsis—whilst identifying key barriers to biomarker translation and proposing approaches to overcome standardisation and computational interpretation challenges.

UK applicability

The clinical frameworks and biomarker validation strategies discussed are directly applicable to UK diagnostic and precision medicine initiatives, particularly within NHS oncology and critical care pathways. The emphasis on standardisation and computational infrastructure may inform UK implementation of transcriptomic testing in routine clinical practice.

Key measures

Gene expression profiles; diagnostic and prognostic biomarker performance; endotype identification; discrimination between viral and bacterial infection

Outcomes reported

The paper reviews current clinical applications of transcriptomics-based diagnostic and prognostic biomarkers in cancer and sepsis. It examines how gene expression profiling can identify disease endotypes, stratify patients, and support treatment decisions.

Theme
Nutrition & health
Subject
Other / interdisciplinary
Study type
Narrative Review
Study design
Narrative review
Source type
Peer-reviewed study
Status
Published
System type
Human clinical
DOI
10.3389/fgene.2023.1100352
Catalogue ID
SNmojaczy0-k7c348

Topic tags

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