Genedata Profiler Powers Major Breakthroughs in Early Prediction of Breast and Ovarian Cancer

Genedata plays pivotal role in discovery of epigenetic tumor markers to predict breast and ovarian cancer

February 2, 2018
Basel, Switzerland

Genedata, a leading provider of advanced software solutions for biopharmaceutical research and development (R&D), today outlined the pivotal role played by its scientists in groundbreaking work to improve the diagnosis and therapy of breast and ovarian cancer. As part of the EU-funded consortium EpiFemCare, Genedata scientists used Genedata Profiler™, the leading enterprise software platform for omics-based profiling of patients in translational and clinical research, to process, manage, and analyze terabytes of data collected from patient blood samples in order to identify tumor DNA markers. These markers indicate the presence of cancer cells, even before any cancerous growth is otherwise detectable.

Due to leakage of normal DNA from white blood cells, tumor DNA fragments in patient serum samples become extremely diluted and hard to identify. As existing data analysis pipelines for DNA-methylation data have turned out to be inadequate for the task of DNA tumor identification, experts from the Genedata Data Science team invented new algorithms to successfully detect and quantify even minute quantities of tumor DNA with high sensitivity and specificity. These algorithms have been incorporated into workflows described in a webinar now available to Genedata Profiler clients.

Based on this work, the EpiFemCare project generated highly significant results, including the discovery of a new serum DNA methylation marker, termed EFC#93, which can be used to diagnose potentially fatal breast cancer up to one year ahead of current methods. The consortium also demonstrated that DNA methylation patterns in a panel of markers can detect some ovarian cancers up to two years before diagnosis. These findings, published in the peer-reviewed journal Genome Medicine, are expected ultimately to facilitate personalized treatment of women afflicted with breast or ovarian cancer. See also a video abstract of the breast cancer study paper.

Commenting on publication of the breast cancer research results, Professor Martin Widschwendter, coordinator of the study, said: “For the first time, our study provides evidence that serum DNA methylation markers such as EFC#93 provide a highly specific indicator that could diagnose fatal breast cancers up to one year in advance of current diagnosis. This may enable individualized treatment, which could even begin in the absence of radiological evidence in the breast.”

Dr Othmar Pfannes, CEO of Genedata, stated: “I am excited about the success of the EpiFemCare project and very proud of the contributions of our Genedata team. This project exemplifies the value that the Genedata Data Science team, working with our software, can bring to complex and challenging fields such as liquid biopsy testing.”

Experts from Genedata offices in Basel, Switzerland and Munich, Germany worked in EpiFemCare with other scientists and physicians from University College London (UK), GATC Biotech (Germany), Ludwig-Maximilian University (Germany), and Charles University in the Czech Republic.