An article in Nature Biotechnology in collaboration with the group of Dr. Manel Esteller, Director of the Epigenetics and Cancer Biology Program of the Bellvitge Institute for Biomedical Research (IDIBELL) and Professor of Genetics at the University of Barcelona (UB), proves that epigenetic tests possess the same technical quality and thoroughness than genetic testing; the study, which analyzes the results derived from the epigenome analysis of a series of human samples made by different laboratories using different methodologies, gets very similar results in all cases.
"Within the BLUEPRINT international project, of which we are part, we committed to help assess whether the result of an epigenetic test performed on the same sample in a laboratory in Barcelona, Vienna, London or Australia would get the same result" - explains Dr. Manel Esteller, ICREA researcher and co-author of the study - "the study results show that this is the case, so the reliability of epigenetic laboratory tests is similar to that of genetic analysis routinely used in hospitals".
The discovery of the DNA double strand and the association of its genes and hereditary characteristics has led to the introduction of genetic tests, widely used in hospitals nowadays, either to predict the risk of a particular disease or the response to a given drug. However, the study of epigenetics, the chemical marks that control genetics, began decades later, so its contribution to the management of patients is still not widespread.
"This international validation of epigenetic tests will fuel its clinical implementation, which can be used for early detection of blood-circulating tumor DNA, evaluation of samples that have been stored in pathology laboratories for years, the establishment of credible epigenetic patterns to analyze differences between healthy and sick individuals or even the generation of complete epigenomes with each of the 6,000 million bricks that make up the human genome tissue”, the researcher says. "This article gives a seal of quality to many studies based on the examined technical methods; this will ease the approval of some of epigenetic tests by regulatory agencies, an essential step to reach patients”.
Image: Example of an epigenome analysis of chromosomes 1, 2, 3 and 4.
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