A new multicancer early detection blood test can successfully identify tumor-derived DNA in patients up to three years before a clinical cancer diagnosis, according to a study published on May 22 in Cancer Discovery.
Detecting Tumor DNA Years Before Clinical Symptoms
The research team analyzed plasma samples originally collected for the Atherosclerosis Risk in Communities (ARIC) study, a long-running, National Institutes of Health-funded initiative launched in the late 1980s to investigate cardiovascular disease risk factors like heart attacks and strokes.
Investigators examined blood samples from 52 total participants. This group included 26 individuals who received a cancer diagnosis within six months after their blood draw, and 26 matched control participants who did not develop cancer. Using highly sensitive DNA sequencing techniques, the team searched for cell-free tumor DNA (ctDNA)—tiny fragments of mutated genetic material that tumors shed into the bloodstream.
At the time of collection just prior to diagnosis, eight of the 52 participants tested positive using the multicancer early detection (MCED) laboratory test. All eight of those individuals received a clinical cancer diagnosis within four months of giving blood.
Uncovering Pre-Diagnostic Genetic Markers
What surprised investigators was the presence of cancer-derived mutations even further back in time. For six of the eight participants who initially tested positive, the research team secured additional historical blood samples that had been drawn 3.1 to 3.5 years prior to their actual cancer diagnoses.
In four of those six specific cases, the ultra-sensitive sequencing assay successfully identified tumor-derived mutations in the samples taken more than three years early.
Future Implications for Cancer Screening
Traditional cancer screenings generally target single organs, such as mammograms for breast cancer. Multicancer early detection tests aim to screen for markers associated with multiple types of cancer simultaneously using a single blood draw.
While the technology demonstrates clear potential for identifying malignancies before physical symptoms arise, researchers emphasize that subsequent medical steps require careful planning. Nickolas Papadopoulos, Ph.D., professor of oncology, Ludwig Center investigator, and senior author of the study, points out the operational challenges ahead. "Of course, we need to determine the appropriate clinical follow-up after a positive test for such cancers," Papadopoulos says.
Funding and support for the research and the underlying cohort studies came from multiple federal and philanthropic sources. The National Institutes of Health provided grant support under numbers R21NS113016, RA37CA230400, U01CA230691, P30 CA 06973, DRP 80057309, and U01 CA164975. Additional financial backing was supplied by the Virginia and D.K. Ludwig Fund for Cancer Research, the Commonwealth Fund, the Thomas M. Hohman Memorial Cancer Research Fund, The Sol Goldman Sequencing Facility at Johns Hopkins, The Conrad R. Hilton Foundation, the Benjamin Baker Endowment, Swim Across America, the Burroughs Wellcome Career Award for Medical Scientists, the Conquer Cancer — Fred J. Ansfield, MD, Endowed Young Investigator Award, and The V Foundation for Cancer Research.
The ARIC study receives ongoing federal funding from the National Heart, Lung, and Blood Institute, part of the National Institutes of Health within the Department of Health and Human Services, under contract numbers 75N92022D00001, 75N92022D00002, 75N92022D00003, 75N92022D00004, and 75N92022D00005.