A study found that, utilizing cell-free DNA sequencing leveraging methylation patterns, a new blood test could detect more than 50 cancer types and the location of these cancer types in the body.
A new blood test was able to find more than 50 cancer types across different stages and the locations of these cancer types in the body, according to a recent study published in Annals of Oncology.
Cell-free DNA (cfDNA) sequencing leveraging informative methylation patterns was utilized to detect these cancer types. The test identified some dangerous cancer types that lack effective standard screening approaches. The early detection of some of these cancer types is often critical to treatment success for patients.
“Our results show that this approach to testing cell-free DNA in blood can detect a broad range of cancer types at virtually any stage of the disease, with specificity and sensitivity approaching the level needed for population-level screening,” co-lead author of the study Geoffrey Oxnard, MD, said in a press release. “The test can be an important part of clinical trials for early cancer detection.”
The results revealed that detection increased with increasing stage: in pre-specified cancer types, sensitivity was 39% (CI, 27%-52%) in stage I, 69% (CI, 56%-80%) in stage II, 83% (CI. 75%-90%) in stage III, and 92% (CI, 86%-96%) in stage IV. Even more, sensitivity for all cancer types was 18% (CI, 13%-25%) in stage I, 43% (CI, 35%-51%) in stage II, 81% (CI, 73%-87%) in stage III, and 93% (CI, 87%-96%) in stage IV.
The study recruited 6689 participants-including 2482 across >50 cancer types and 4207 who did not have cancer-and divided them into training and validation sets. The researchers also developed a classifier for cancer detection and tissue of origin localization. The test analyzes the arrangement of methyl groups on the DNA of cancer cells. When these tumor cells die with the methyl groups attached, it empties into the blood, where it can be analyzed by the test.
“cfDNA sequencing of informative methylation patterns detected a broad range of cancer types at metastatic and non-metastatic stages with specificity and sensitivity performance approaching the goal for population-level screening,” wrote the researchers.
The researchers explained that clinical validation in intended use populations is ongoing with a handful of trials, while another trial has been initiated returning results to both health care providers and patients. The feasibility of targeted methylation analysis of cfDNA in the intended use population for early cancer detection is supported by this test.
This study came with its own set of limitations, starting with the fact that all patients were not asymptomatic. The researchers suggest further studies are needed to target this group of patients. More, the ability for the test to intercept cancers at earlier stages that were originally detected at later stages requires more research. Lastly, complete 1-year follow-up was not available for non-cancer patients to ensure the validity of that status.
“Together, these data provide compelling evidence that targeted methylation analysis of cfDNA can detect and localize a broad range of non-metastatic and metastatic cancer types including many common and deadly cancers that lack effective screening strategies,” wrote the researchers.
1. Liu MC, Oxnard GR, Klein EA, et al. Sensitive and specific multi-cancer detection and localization using methylation signatures in cell-free DNA. Annals of Oncology. https://doi.org/10.1016/j.annonc.2020.02.011.
2. New blood test can detect wide range of cancers, now available to at risk individuals in clinical study at Dana-Farber [news release]. Published March 30, 2020. https://www.newswise.com/articles/new-blood-test-can-detect-wide-range-of-cancers-now-available-to-at-risk-individuals-in-clinical-study-at-dana-farber?sc=dwhr&xy=10019792. Accessed April 1, 2020.