Mass Spectrometry in Precision Medicine: Phenotypic Measurements Alongside Pharmacogenomics

Precision medicine is becoming a major topic within the medical community and is gaining traction as a standard approach in many disciplines. This approach typically revolves around the use of a patient's genetic makeup to allow the physician to choose the appropriate course of treatment. In many cases the genetic information directs the drug to be used to treat the patient. In other cases the genetic markers associated with enzyme function may inform dosage recommendations. However there is a second way in which precision medicine can be practiced-that is, by therapeutic drug monitoring (TDM).

A review of the use of mass spectrometry for TDM in the arena of precision medicine is undertaken. Because the measurement of a drug or its metabolites provides the physician with a snapshot of the therapeutic exposure the patient is undergoing, these concentrations can be thought of as an actual phenotype measurement based around the patient's genetics coupled with all of the environmental, pharmacological, and nutritional variables. The outcome of a TDM measurement by mass spectrometry provides the patient's current phenotype vs the potential phenotype imputed by the genetics.

The use of mass spectrometry can provide an understanding of how a drug is interacting with the patient, and is orthoganol to the information provided by pharmacogenomic assays. Further, the speed and relatively low expense of drug monitoring by mass spectrometry makes it an ideal test for precision medicine patient management.