Scientific Breakthrough on the Correlation of Liquid Biopsies with Cancer Type

I have blogged extensively about the progress that is being made with liquid biopsy research (see, for example:Grail Picks Specific Method for Liquid Biopsy Clinical Trials). The test is based on the correlation that can be made between cell-free DNA (cfDNA) fragments circulating in the blood with a malignant tumor that may be growing in the patient. A recent article addressed some new science for assessing fragments of DNA in the circulation based on a machine learning model (see:Genome-wide cell-free DNA fragmentation in patients with cancer). Below is an excerpt from the summary of the article:Cell-free DNA in the blood provides a non-invasive diagnostic avenue for patients with cancer.However, characteristics of the origins and molecular features of cell-free DNA are poorly understood. Here we developed an approach to evaluate fragmentation patterns of cell-free DNA across the genome, and found that profiles of healthy individuals reflected nucleosomal patterns of white blood cells, whereas patients with cancer had altered fragmentation profiles....A machine learning model that incorporated genome-wide fragmentation features had sensitivities of detection ranging from 57% to more than 99% among the seven cancer types at 98% specificity, with an overall area under the curve value of 0.94. Fragmentation profiles could be used to identify the tissue of origin of the cancers to a limited number of sites in 75% of cases. Combining our approach with mutation-based cell-free DNA...
Source: Lab Soft News - Category: Laboratory Medicine Authors: Tags: Clinical Lab Industry News Clinical Lab Testing Diagnostics Genomic Testing Healthcare Innovations Lab Industry Trends Medical Research Preventive Medicine Source Type: blogs