A study analyzes the quality of epigenetic analysis in clinical implementations


An article published in Nature Biotechnology shows that epigenetic tests have the same technical quality and accuracy than genetic tests. This was the conclusion of the results-that were very similar- obtained by different laboratories worldwide using different methodologies to analyse the epigenome of the same human samples. In the study, carried out in the international project  Blueprint, some researchers of the University of Barcelona participated, as well as from the Bellvitge Biomedical Research Institute (IDIBELL) and Agust Pi i Sunyer Biomedical Research Institute (IDIBAPS).

“Within the BLUEPRINT project, where we take part in, we commit to help evaluating if results from epigenetic tests done in the same sample in a laboratory from Barcelona, Vienna, London or Australia- would have the same result. And the results of this study show that this is the case, the epigenetic laboratory tests have a similar reliability to the those in the genetic analyses regularly used in hospitals” said Manel Esteller, co-author of the study, lecturer of Genetics at the University of Barcelona and ICREA researcher at IDIBELL.

Genetic tests are now widely used in hospitals, used to foresee the risks of suffering from a certain disease or foresee the response to a certain drug. Epigenetics, the chemical marks that control genetics, started as a modern discipline in science decades after genetics, so its contribution to the managing of patients was not widely used. 

This international validation of the epigenetic tests will enable stepping forward in its clinical implementation, being able to be used to detect tumour DNA in blood, assessing stored samples in pathology anatomy laboratories for years, contributing to establish reliable epigenetic patterns analysing differences between healthy and sick tissues at a 500.000 pieces or “even start spreading the getting of complete epigenome with each of the 6.000 million bricks that make up the human genome” said Esteller. 
According to the researcher, this study means “stamping a quality seal” in lots of studies based on the examined techniques, this will enable the approval of some epigenetic tests by regulatory agencies, something which is essential so that it gets to the patients.

The project had the participation of two teams associated to the University of Barcelona: the team of the Epigenetics and Biology of Cancer Program of IBIDELL, Manel Esteller, leader of the program, Francisco Javier Carmona and María Berdasco; and the team of UB-IDIBAPS formed by Iñaki Martín-Subero, Marta Kulis and Ana Queirós. There was also the participation of researchers from the National Centre of Biotechnology and the Nanomaterial and Nanotechnology Research Centre, both from the Spanish National Council (CSIC).


Bock C, Halbritter F, Carmona FJ, Sascha Tierling, Paul Datlinger, Assenov Y, Berdasco M, Bergmann AK, Booher K, Busato F, Campan M, Dahl C, Dahmcke CM, Diep D, Fernández AF, Gerhauser C, Haake A, Heilmann K, Holcomb T, Hussmann D, Ito M, Kläver R, Kreutz M, Kulis M, Lopez V, Nair SS, Paul DS, Plongthongkum N, Qu W, Queirós AC, Sauter G, Schlomm T, Stirzaker C, Statham A, Strogantsev R, Urdinguio RG, Walter K, Weichenhan D, Weisenberger DJ, Beck S, Clark SJ, Esteller M, Ferguson-Smith AC, Fraga MF, Guldberg P, Hansen LL, Laird PW, Martin-Subero JI, Nygren AOH, Peist R, Plass C, Shames DS, Siebert R, Sun X, Tost J, Walter J, ZhangK, for the BLUEPRINT consortium.   «Quantitative comparison of DNA methylation assays for biomarker development and clinical applications». Nature Biotechnology, June 2016. DOI: 10.1038/nbt.3605