Four new papers, co-published by several BLUEPRINT members and others in Nature Biotechnology and Nature Communications, mark the feasibility of epigenetic analysis for clinical diagnostics and precision medicine.

Epigenetic changes occur in all cancers, and in various other diseases. Measuring these changes provides unprecedented insights into the disease mechanisms at work in individual patients, which is important for better diagnosis and patient-specific treatment decisions.

In this series of four papers, led by Christoph Bock (CeMM Research Center for Molecular Medicine of the Austrian Academy of Science Vienna) and Stephan Beck (University College London, UCL), an international group of scientists have validated the feasibility of epigenetic analysis for clinical application.

The CNAG has contributed to two of these papers (#2 and #3). According to these studies epigenome sequencing technologies can allow for more comprehensive analysis of cancers - a key component in the development of targeted approaches to combat cancer.

Epigenetics is a relatively new and rapidly evolving area of cancer research and refers to chemical modifications to DNA that turn genes ‘on’ or ‘off’. These modifications do not change the DNA sequence itself but the way it functions. In this way, epigenetic modifications help determine cellular identity i.e what distinguishes a skin cell from a brain or other type of cell. Currently, sophisticated technologies exist that can be used to detect epigenetic changes in tissue samples. In many cancers, epigenetic variants are more frequent than genetic variants, so can therefore provide vital information for understanding how cancers develop and progress.

A key question for the researchers involved in the studies, was whether epigenome sequencing technologies could be improved to detect such modifications much more comprehensively and efficiently.

The papers include:

1.- Quantitative comparison of DNA methylation assyas for biomarker development and clinical applications. C. Bock et al. Nature Biotechnology

2.- Saturation analysis for whole-genome bisulfite sequencing data. Libertini et al. Nature Biotechnology

3.- Information recovery from low coverage whole-genome bisulfite sequencing. Libertini et al. Nature Communication

4.- Chromatin Accessibility maps of chronic lymphocytic leukemia identify subtype-specific epigenome signatures and transcription regulatory networks. Rendeiro, Schmidl, Strefford et al. Nature Communication

Image by Christoph Bock