- Researchers have developed a low cost blood test that analyzes DNA methylation patterns in cell-free DNA to potentially detect multiple cancers and other diseases from a single sample.
- By filtering out background DNA and focusing on informative fragments, the test significantly reduces sequencing needs, with an estimated cost of under $20 per sample.
- In a large study, the test detected about 63% of cancers overall and 55% of early stage cancers at 98% specificity, with higher detection rates in high risk liver cancer patients.
- The test can also identify the likely tissue of origin and distinguish among different liver diseases, suggesting its potential as a broad, noninvasive tool for early detection and disease monitoring.
Cell-free DNA (cfDNA) refers to small, fragmented DNA fragments that circulate freely in bodily fluids, such as blood plasma. There is growing interest in using these DNA fragments for noninvasive cancer diagnostics. In particular, circulating tumor DNA (ctDNA) can help to diagnose and manage cancer.
However, many technical challenges remain for cfDNA diagnostics. Namely, this approach is often expensive in clinical settings, as it requires high-depth, high-sensitivity next-generation sequencing to detect small amounts of ctDNA among the high background of normal cfDNA.
Now, a new blood test developed by researchers at the University of California, Los Angeles (UCLA) could offer a low cost way to detect multiple cancers and other diseases from a single blood draw, according to a recent study.
The test, known as MethylScan, analyzes cfDNA. These small fragments of genetic material are released into the blood when cells die, and about 50 to 70 billion cells die each day in an average adult human.
Because cells from across the body shed DNA into circulation, these fragments can provide insight into the health of different organs and have potential as noninvasive biomarkers for multiple conditions.
Rather than searching for specific genetic alterations, the researchers focused on DNA methylation. This describes chemical modifications that can regulate gene activity, and vary depending on the tissue type and disease state.
Changes in these patterns can serve as a cancer biomarker, or signal the presence of other conditions, which may allow for earlier detection during clinical screening.
However, a key challenge in using cfDNA for disease detection is that most circulating DNA derives from healthy blood cells, creating background noise that makes it difficult to identify disease-related signals.
To address this, the UCLA team developed a method to remove much of this background DNA before sequencing.
“The test focuses on methylation-informative genome regions and eliminates 80 to 90% cell-free DNA that originates from blood cells,” Jasmine Zhou, PhD, the study’s senior author, a professor of pathology and laboratory medicine and investigator at the UCLA Health Jonsson Comprehensive Cancer Center, told Medical News Today.
By enriching for methylated DNA fragments, which are more likely to originate from organs, the test requires significantly less sequencing, reducing costs.
The research team estimates that the test could cost less than $20 per sample, making it substantially cheaper than many existing multi-cancer blood tests.
Notably, at a specificity of 98% (i.e., a low rate of false positives), the test detected approximately 63% of cancers overall and about 55% of early stage cancers.
In those at a higher risk of liver cancer, such as people living with cirrhosis or hepatitis, the test identified nearly 80% of cases. This highlights the potential use of the test in disease surveillance.
Beyond cancer detection, the test also distinguished between different types of liver disease with around 85% accuracy. This also suggests the test could help reduce the need for invasive procedures such as biopsies.
Importantly, the test was able not only to detect disease signals but also to indicate their likely tissue of origin. This could be critical for guiding follow-up diagnostic procedures, such as targeted organ-specific imaging.
The researchers suggest that this could enable the test to function as a health-monitoring tool, identifying organ damage or disease even before symptoms appear.
“A single blood test holds the promise to detect multiple diseases across the body, including cancers and liver diseases, by sequencing cell-free DNA methylome in the blood, and it can do this with a fraction of the sequencing cost,” Zhou said to MNT.
“A single blood test can flag cancer and non-cancer diseases before symptoms, which may push the clinical shift from reactive diagnosis to proactive detection.”
— Jasmine Zhou, PhD
Blood-based cancer screening, often referred to as a liquid biopsy, is an area of growing interest.
Although promising, health experts caution that such tests are not diagnostic and must be followed by further investigations if results are positive. Some questions also remain about their long-term benefits and accuracy in large populations.
To validate the test’s performance in real-world settings, the researchers emphasize that larger, prospective studies are necessary. If confirmed, the approach could represent a step toward a single, affordable blood test capable of detecting a wide range of diseases early, potentially improving outcomes through earlier intervention.
While the test is still in the research phase, this low cost, multi-disease approach highlights the potential of DNA methylation profiling as a scalable and accessible tool for early detection. If future studies confirm these findings, it could help reshape how clinicians screen for cancer and monitor overall health.
“This study demonstrates that blood-based methylation profiling can deliver clinically meaningful information across multiple diseases,” said Zhou in a press release. “It’s an exciting advancement that brings us closer to realizing the dream of a single assay for universal disease detection.”
