Mass Spectrometry-based Diagnostics: The Upcoming Revolution in Disease Detection

Advances in mass spectrometry-based diagnostics could ignite a revolution in the field of molecular medicine. This platform has the potential to become the practical clinical analyzer of the future for nucleic acids and proteins. Mass spectrometry-based diagnostics are an example of a “disruptive” or “nonlinear” technology (1)(2). Such disruptive technologies are by their very nature polarizing, causing a dynamic dichotomy of excitement (3) as well as anxiety(4) in the clinical diagnostic community because this technology can potentially outperform traditional measurement and detection systems. In this issue of Clinical Chemistry , Bonk et al. (5) demonstrate the advantages of mass spectrometry compared with traditional electrophoretic methodologies. Bonk et al. used mass spectrometry as a “sensor” to detect the amplified product from a PCR amplification reaction. The ultimate clinical application for this study is the early detection of colon cancer, a topic of obvious public health importance.Although major advances have been made in elucidating the genetic underpinnings of cancer, especially colorectal cancer, diagnostic methodologies for routine clinical detection and monitoring of important cancer genetic derangements have lagged behind. Microsatellite instability (MSI), caused by mismatch repair gene silencing, is predicted to be an important early event in cancer progression (6)(7)(8).In this issue, Bonk et al. (5) report on a study in which they use time-of-flight-based mass spectrometry to detect MSI. Unlike previous studies, in which chromatography, electrophoresis, and traditional DNA sequencing methodologies were used to detect the presence of MSI, these authors have chosen …