The MethDet: a technology for biomarker development.

Early detection and diagnosis of a disease in its presymptomatic form has to rely on biomarkers, and multiple laboratories are involved in their development and validation. In this article, we describe our work on a platform technology for a genome-wide analysis of DNA methylation while still using a small amount of sample - a biopsy, a section from a formalin-fixed paraffin-embedded tissue or a small volume (0.4 ml) of plasma from blood. This technology (methylation detection or MethDet) allows genome-wide association studies similar to the analysis of single-nucleotide polymorphisms. Instead of mostly static genetic differences, the MethDet technology tests disease-dependent changes of epigenetic makeup, which is closely related to the gene expression pattern of a disease. The MethDet assay has the capacity to utilize highly fragmented DNA (e.g., cell-free circulating DNA from plasma) to identify disease-specific changes, effects of treatment or changes in the disease activity.