Clinical OMICS

JAN-FEB 2019

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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Page 38 of 51 January/February 2019 Clinical OMICs 37 that, "by analyzing and leveraging with a machine learn- ing model the genome-wide fragmentation of cfDNA with a simple and cheap sequencing method, we can drastically enhance the sensitivity for detecting minute amounts of tumor-derived molecules in the blood circulation." They accomplished this without pre-existing knowledge about the mutations or copy number alterations in the patients. Mouliere added they applied this method to the most difficult cases, gliomas and renal cancer, which are often consid- ered beyond the reach of liquid biopsy. In doing so, they were able to detect the majority of the cases (more 65%) with a plasma sample which Mouliere said was "unprecedented." Mouliere added that he would like to try this new concept that they developed to detect tumor-derived DNA by ana- lyzing its genome-wide fragmentation, in other challenging situations such as early detection. "unfortunately, we had no access to early stage samples to demonstrate the poten- tial for these cases, but works are underway to validate this new approach with these samples," he said. In a commentary on the work, also published in Science Translational Medicine, Ellen Heitzer, Ph.D., and Michael Speicher, M.D., Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine at the Medical University of Graz, Austria, wrote that the study "substan- tially extends the armamentarium of cfDNA-based diagnos- tic tests." They noted in particular "the possibility of early identification of individuals with cancer offers the potential for new screening strategies and may change the therapeu- tic outcomes for these patients." Heitzer and Speicher detailed the next potentially signifi- cant steps for this field. For example, the necessity of confir- mation of these results in large, multicenter clinical studies. Also, exploring the differences seen in the methods used for size selection (in silico vs. in vitro) and exploring the poten- tial deleterious effects of size selection. Cerebrospinal Fluid In a second publication by Mouliere and colleagues entitled "Detection of cell-free DNA fragmentation and copy num- ber alterations in cerebrospinal fluid from glioma patients," published in EMBO Molecular Medicine, some members of (continued on next page) Kevin Brindle, Ph.D. University of Cambridge hipokrat / iStock / Getty Images

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