Mass spectrometry-based metabolomics diagnostics - myth or reality?

Area of Science:

• Biomedical science
• Analytical chemistry
• Clinical diagnostics

Background:

• Metabolomics is a rapidly advancing post-genomics field with significant potential for medical diagnostics.
• Over 2,000 studies utilizing mass spectrometry-based (MS-based) metabolomics for human disease diagnostics have been published.
• Despite high reported diagnostic accuracy in research, no metabolomics-based diagnostic tests are currently approved for clinical use.

Purpose of the Study:

• To discuss the advantages and challenges of MS-based metabolomics in diagnostics.
• To review current trends in implementing metabolomics diagnostics in clinical settings.
• To explore the future potential of MS-based metabolomics in clinical practice.

Main Methods:

• Review of scientific literature on MS-based metabolomics for diagnostics.
• Analysis of advantages and challenges in clinical translation.
• Discussion of emerging trends and future prospects.

Main Results:

• MS-based metabolomics offers high diagnostic accuracy in numerous studies.
• Significant hurdles remain in the clinical implementation and regulatory approval of metabolomics diagnostics.
• Laboratory-developed tests (LDTs) are a potential pathway for introducing multi-test metabolomics diagnostics.

Conclusions:

• MS-based metabolomics holds promise as a discovery tool and for developing novel multi-test diagnostic prototypes.
• Further research and development are needed to overcome challenges and facilitate clinical adoption.
• The integration of metabolomics into routine clinical practice is anticipated in the near future.