A novel artificial intelligence (AI) blood testing technology developed by researchers at the Johns Hopkins Kimmel Cancer Center has been shown to detect over 90% of lung cancers in samples from nearly 800 individuals with and without cancer. The test approach, called DELFI (DNA evaluation of fragments for early interception), spots unique patterns in the fragmentation of DNA that is shed from cancer cells circulating in the bloodstream, or cell free DNA (cfDNA). A study reported in Nature Communications has now demonstrated how testing for fragmentation features, in combination with evaluating clinical risk factors, analyzing a protein biomarker, and CT imaging, enabled detection of 94% of patients with cancer across stages and subtypes. Reporting on the study, senior author Victor E. Velculescu, MD, PhD, first author Dimitrios Mathios, PhD, and colleagues, concluded, "The observations that scalable and cost-effective noninvasive cfDNA fragmentation analyses can discriminate lung cancer patients from noncancer individuals may ultimately provide an opportunity to evaluate not only high-risk individuals but the general population for lung cancer." Their paper is titled, "Detection and characterization of lung cancer using cell-free DNA fragmentomes."

A section of the DNA fragmentation profile of cell-free DNA from a cancer patient plotted over a healthy profile. Imagine, taking a simple blood draw to find out if you have cancer, and if so, the cancer's location and molecular type. While this scenario may have sounded like science fiction not long ago, liquid biopsies are now an exciting, tangible, area of cancer research. I spoke with two researchers who have developed an approach to detect cancer from cell-free DNA by looking at DNA fragmentation: Robert B. Scharpf, PhD, associate professor of oncology at the Sidney Kimmel Cancer Center and Biostatistics at the Johns Hopkins Bloomberg School of Public Health and Victor E. Velculescu, MD, PhD, professor of oncology, pathology, and medicine at the Johns Hopkins University School of Medicine. Their study, published in Nature earlier this year, demonstrates the feasibility of liquid biopsies using DNA fragmentation profiles.