Scientists at the Johns Hopkins Kimmel Cancer Center have created a new kind of blood test that may help detect cancer at an early stage.
The test works by looking at how random or unstable certain chemical markers are on DNA, instead of just measuring how many of those markers are present.
These markers are called DNA methylation patterns. The new method uses a tool called the Epigenetic Instability Index (EII) to measure the changes.
The researchers found that this method could tell the difference between people with early-stage lung and breast cancers and healthy people with high accuracy. Their results were published in the journal Clinical Cancer Research and presented at a major cancer research meeting in 2024.
Usually, liquid biopsies—a type of blood test for cancer—look for fixed changes in DNA methylation. But these tests often only work well for people in certain groups, like those who are the same age or ethnicity, or have similar cancer stages. The new method from Johns Hopkins could work more broadly and catch early signs of cancer more reliably.
Dr. Hariharan Easwaran, the lead researcher, explained that their test is the first to focus on how unpredictable DNA changes are in early cancer. This randomness, which they call “epigenetic instability,” seems to show up in the blood even before a tumor is large or advanced.
Thomas Pisanic, another researcher on the study, added that cancers showing more DNA instability may grow faster and avoid the body’s natural defenses. That’s why spotting this instability early could be so helpful.
To create the test, the team first studied data from more than 2,000 cancer samples. They looked for regions of DNA that changed the most in people with cancer. They picked 269 spots, called CpG islands, that showed the biggest differences. Then they trained a computer program to learn the patterns in this data.
The tool worked very well. For early-stage lung cancer, the test found cancer in 81% of cases while being 95% accurate in avoiding false alarms. For early breast cancer, it worked in 68% of cases with the same level of accuracy. It also showed early promise in spotting colon, brain, pancreatic, and prostate cancers.
Easwaran said that during the first steps of cancer, DNA methylation begins to change in subtle ways. Their new method picks up on those changes, even when only a small amount of DNA is released into the blood. Pisanic noted that this could help doctors find and treat cancer earlier.
The team is now working on improving the method so it can be used in real-world medical settings. It might be used with other screening tools, like PSA tests for prostate cancer, to help doctors decide whether more tests or treatments are needed.
This new test could someday become an important tool for finding cancer early and helping people get treated sooner—when it’s easiest to cure.
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