From Specialist Labs to Routine Testing: The Rise of Clinical Mass Spectrometry

March 6, 2025

The use of mass-spec for clinical diagnostics has been limited by its complexity, cost, and availability.

What is Mass Spectrometry?

Mass Spectrometry (MS) is an analytical technique used to measure the mass-to-charge ratio of ions. The results are presented as a mass spectrum, a plot of intensity as a function of the mass-to-charge ratio. Sometimes referred to as ‘mass-spec’, MS is commonly used in analytical chemistry applications to detect compounds with unparalleled sensitivity and specificity.

Limitations of Mass Spectrometry in Clinical Diagnostics

The use of mass-spec for clinical diagnostics has been limited by its complexity, cost, and availability. Most clinical labs do not have the resources required to perform routine MS. In addition, most MS systems are not approved for clinical use.

This has knock on effects for research as diagnostics involving MS techniques are difficult to commercialise and so often get less attention than traditional diagnostic methods. Simply put, historically it has been too costly to include mass-spec for clinical diagnostics research and productisation.

Examples of Mass Spectrometry in Clinical Diagnostics

MS has seen some niche uses in laboratory developed tests (LDTs) for newborn screening1, toxicology2, endocrinology3 and therapeutic drug monitoring2 but the landscape is now changing with the launch of the Roche cobas® i601 clinical MS system.

Regulatory Approval for Mass Spectrometry Systems

The Roche cobas® i601 is amongst the first fully automated clinical MS systems to receive regulatory approval in Europe in the form of a CE mark. This represents a big step in bringing clinical MS into routine practice and using the power of mass-spec to perform advanced clinical diagnostics. While traditional MS systems require extensive sample preparation, method optimisation and expert interpretation, the i601 integrates the use of MS into a high-throughput immunoassay analyser, allowing clinical labs to access the power of mass-spec more easily.

How Mass Spectrometry can advance Diagnostics and Patient Care

The rise of clinical mass-spec has also opened up novel advancements in diagnostics and patient care such as:

Point-of-care testing
There is significant interest growing in the portable MS space. This would enable point-of-care testing and would produce interpretable results at the bedside reducing the need for long wait times and highly trained operators to obtain a diagnosis4.

Advanced Proteomics for Disease Biomarkers
Mass-spectrometry-based targeted proteomics is a novel approach to screening cancer biomarkers within various biological matrices. Although historically marred by lengthy validation studies and the complexity of LC-MS, this is sure to improve as MS becomes more commonplace5.

Routine Clinical Testing
With the advent of integrated MS systems, MS can be integrated into clinical labs as part of their routine workflow. This is particularly useful for therapeutic drug monitoring and antimicrobial stewardship 6

Dried Blood Spot Analysis
Mass-spec can be used to analyse compounds from dried blood spots which are an extremely convenient and minimally invasive way of collecting patient samples. Simplifying the collection, storage and transportation of patient samples allows routine blood analysis to become much more accessible 7

Microbial Pathogen Detection
Clinical microbiology has always been time-consuming due to reliance on culturing methods to detect pathogens. Whilst PCR techniques somewhat alleviated this, PCR is susceptible to contamination, inhibitors present in biological samples and cycling conditions. With the rise of clinical MS, the potential for rapid diagnosis of microbial infections is becoming a reality 8.

The Future of Micro Spectrometry in Diagnostics

Costs aside, the more clinical diagnostic labs with access to fully approved mass-spec technology means the advancements in both diagnostics and patient care listed above will become more commonplace. Regulatory approval is vital, so the Roche MS system obtaining a CE mark is certainly a positive step.

 

  1. Chace, D. H. Mass spectrometry in newborn and metabolic screening: historical perspective and future directions. J. Mass Spectrom. JMS 44, 163–170 (2009).
  2. Victoria Zhang, Y. & Garg, U. Mass Spectrometry in Clinical Laboratory: Applications in Therapeutic Drug Monitoring and Toxicology. in Clinical Applications of Mass Spectrometry in Drug Analysis: Methods and Protocols (ed. Garg, U.) 1–13 (Springer US, New York, NY, 2024). doi:10.1007/978-1-0716-3541-4_1.
  3. Fung, A. W. S., Sugumar, V., Ren, A. H. & Kulasingam, V. Emerging role of clinical mass spectrometry in pathology. J. Clin. Pathol. 73, 61–69 (2020).
  4. Zhou, X., Zhang, W. & Ouyang, Z. Recent advances in on-site mass spectrometry analysis for clinical applications. Trends Anal. Chem. 149, 116548 (2022).
  5. Wenk, D., Zuo, C., Kislinger, T. & Sepiashvili, L. Recent developments in mass-spectrometry-based targeted proteomics of clinical cancer biomarkers. Clin. Proteomics 21, 6 (2024).
  6. The rise of clinical mass spectrometry | LabLeaders. Diagnostics https://lableaders.roche.com/global/en/articles/revolutionizing-clinical-lab-mass-spectrometry.html.
  7. Nicholas, S. Advances in clinical mass spectrometry: 6 key resources for lab managers. Select Science https://www.selectscience.net/article/advances-in-clinical-mass-spectrometry-6-key-resources-for-lab-managers (2022).
  8. Swiner, D. J., Jackson, S., Burris, B. J. & Badu-Tawiah, A. K. Applications of Mass Spectrometry for Clinical Diagnostics: The Influence of Turnaround Time. Anal. Chem. 92, 183–202 (2020).