Assessment of Digital PCR as a Primary Reference Measurement Procedure to Support Advances in Precision Medicine

Genetic testing for point mutations guides patient management in many cancers when analysing the DNA from tumour and, increasingly, liquid biopsies. Such measurements are going to be increasingly important in supporting the implementation of precision medicine that many predict will revolutionise clinical care. However, there are currently no reference measurement procedures available to aid harmonisation of existing testing and support implementation of newer, often more complex, tests into routine use. This study assessed the accuracy of digital PCR for copy number quantification of point mutations by evaluating potential sources of uncertainty influencing measurements of a frequently occurring mutation in colorectal cancer (KRAS G12D). Concentration values for samples containing single or mixed KRAS G12D and WT plasmid templates varied by <1.2-fold and