Translating RNA sequencing into clinical diagnostics: opportunities and challenges

Area of Science:

• Molecular Biology
• Genomics
• Biotechnology

Background:

• RNA sequencing (RNA-seq) technologies are advancing the potential of RNA-based biomolecules for diagnostics, prognostics, and therapeutics.
• RNA-seq facilitates the detection of gene fusions and differential expression of disease-related transcripts.

Purpose of the Study:

• To highlight the expanded promise of RNA-based biomolecules in disease management.
• To explore the potential of diverse RNA species, including extracellular RNAs, for clinical applications.
• To identify requirements for advancing RNA-seq clinical utility.

Main Methods:

• RNA sequencing (RNA-seq) for comprehensive transcriptomic analysis.
• Analysis of gene fusions and differential gene expression.
• Investigation of extracellular RNA detection.

Main Results:

• RNA-seq enables the detection of gene fusions and differential expression of known disease-causing transcripts.
• The diversity of RNA species identified by RNA-seq offers new avenues for clinical applications.
• Extracellular RNAs show potential as non-invasive diagnostic indicators.

Conclusions:

• RNA-based biomolecules hold significant promise for diagnosing and treating various diseases.
• Further development, including benchmark standards, assay optimization, and reproducibility studies, is essential for the clinical adoption of RNA-seq.