Date: June 27, 2016
Source: CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
Four new papers mark the feasibility of epigenetic analysis for clinical diagnostics and precision medicine. Epigenetic analysis addresses key limitations of genetic testing, helping to ensure that patients are accurately diagnosed and treated with the right drug at the right time.
Four new papers, co-published by an international consortium of biomedical researchers, mark the feasibility of epigenetic analysis for clinical diagnostics and precision medicine. Epigenetic analysis addresses key limitations of genetic testing, helping to ensure that patients are accurately diagnosed and treated with the right drug at the right time.
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 a series of four papers led by Christoph Bock (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna) and Stephan Beck (University College London, UCL), an international group of scientists have validated the feasibility of epigenetic analysis for clinical applications.
Building upon years of technology development in laboratories around the world, this series of papers shows the accuracy and robustness of epigenetic tests. Going forward, clinical researchers will optimize and apply these methods for specific diseases, and it is expected that epigenetic tests will become widely used for selecting personalized treatments in cancer and other diseases.
Epigenetics refers to chemical modifications of the DNA and its associated proteins that control gene activity independent of the genetic code. These epigenetic modifications define how two meters of DNA in each human cell are folded into tiny cell nuclei.
Epigenetic modifications can be inherited during cell division, which helps maintain the ~200 cell types of the human body carrying the same genes. Moreover, epigenetic mechanisms provide an interface by which the environment influences gene activity.
In many diseases, including all cancers, the epigenetic control of the genome is heavily distorted. Measuring these alterations provides a detailed picture of the disease-specific changes, which is often informative for distinguishing disease subtypes or identifying suitable treatments. Therefore, epigenetics has much to offer for improving disease diagnosis and treatment choice.
The now published studies, which have been performed in the context of the European BLUEPRINT project and the International Human Epigenome Consortium, constitute a milestone for utilizing epigenetic information in clinical diagnostics and precision medicine.
The above post is reprinted from materials provided by CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences.Note: Materials may be edited for content and length.
André F. Rendeiro, Christian Schmidl, Jonathan C. Strefford, Renata Walewska, Zadie Davis, Matthias Farlik, David Oscier, Christoph Bock.Chromatin accessibility maps of chronic lymphocytic leukaemia identify subtype-specific epigenome signatures and transcription regulatory networks. Nature Communications, 2016; 7: 11938 DOI:10.1038/ncomms11938
Emanuele Libertini, Simon C. Heath, Rifat A. Hamoudi, Marta Gut, Michael J. Ziller, Agata Czyz, Victor Ruotti, Hendrik G. Stunnenberg, Mattia Frontini, Willem H. Ouwehand, Alexander Meissner, Ivo G. Gut, Stephan Beck. Information recovery from low coverage whole-genome bisulfite sequencing. Nature Communications, 2016; 7: 11306 DOI: 10.1038/ncomms11306
Emanuele Libertini, Simon C Heath, Rifat A Hamoudi, Marta Gut, Michael J Ziller, Javier Herrero, Agata Czyz, Victor Ruotti, Hendrik G Stunnenberg, Mattia Frontini, Willem H Ouwehand, Alexander Meissner, Ivo G Gut & Stephan Beck. Saturation analysis for whole-genome bisulfite sequencing data. Nature Biotechnology, June 2016 DOI:10.1038/nbt.3524
Christoph Bock et al. Quantitative comparison of DNA methylation assays for biomarker development and clinical applications.Nature Biotechnology, June 2016 DOI: 10.1038/nbt.3605
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CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences. "Epigenetics: New tool for precision medicine." ScienceDaily. ScienceDaily, 27 June 2016. <www.sciencedaily.com/releases/2016/06/160627124428.htm>.