UCLA Researchers Develop Affordable Blood Test for Early Detection of Cancer and Liver Diseases
Researchers from UCLA have created a cost-effective blood test that shows potential for detecting various types of cancer, liver diseases, and organ issues simultaneously. The method, detailed in the journal Proceedings of the National Academy of Sciences, analyzes fragments of cell-free DNA (cfDNA) circulating in the bloodstream, which could allow for earlier disease detection and a comprehensive assessment of an individual’s health.
“Early detection is crucial,” stated Dr. Jasmine Zhou, the study’s senior author and a professor at the UCLA Health Jonsson Comprehensive Cancer Center. “Survival rates are far higher when cancers are caught before they spread. If you detect cancer at stage one, outcomes are dramatically better than at stage four.”
Innovative Technique: MethylScan
The novel technique, named MethylScan, focuses on DNA methylation patterns—chemical modifications on DNA that regulate gene activity. Unlike traditional liquid biopsies, which often search for mutations in tumor DNA, MethylScan examines shifts in methylation patterns that can indicate disease.
Dr. Wenyuan Li, a co-corresponding author of the study, remarked, “DNA methylation reflects the health status of a tissue. It’s a very informative signal.”
Solving the DNA Noise Issue
A significant challenge in analyzing cfDNA is that 80% to 90% of it originates from normal blood cells, which can obscure rarer cancer-associated fragments. The UCLA team developed a method to filter out this background DNA by using specialized enzymes to selectively remove unmethylated fragments. This approach allows MethylScan to require much less sequencing without losing sensitivity, achieving a sequencing depth of 300× with just 5 gigabases of data.
Comprehensive Evaluation
In their study, researchers tested MethylScan on blood samples from 1,061 individuals, including patients with liver, lung, ovarian, and stomach cancers, as well as people suffering from various liver diseases. Employing machine learning algorithms, they analyzed the complex methylation patterns.
MethylScan achieved an accuracy of 98% specificity, detecting approximately 63% of cancers across all stages and about 55% in early-stage cases. Notably, among individuals at high risk for liver cancer, the test identified nearly 80% of liver cancer cases with a specificity above 90%.
Identifying Cancer Origins
The test not only detects cancer but also indicates the tissue of origin, enabling further diagnostic procedures to target the right organ. “Being able to trace signals back to their source is important because a positive blood test needs to be followed by imaging or other diagnostic procedures directed at the right organ,” Li explained.
MethylScan was also capable of distinguishing between different liver diseases, correctly classifying about 85% of patients with conditions such as viral hepatitis and metabolic-associated liver disease, suggesting that it could lessen the need for invasive liver biopsies in some cases.
Future Directions
The researchers acknowledge that further large-scale trials are necessary to validate MethylScan’s effectiveness in real-world screening contexts. Nevertheless, Zhou believes that the findings mark a significant step toward a single, affordable blood test capable of early detection of multiple diseases, offering clinicians a deeper understanding of patient health.
“This study demonstrates that blood-based methylation profiling can deliver clinically meaningful information across multiple diseases,” Zhou said. “It’s an exciting advancement that brings us closer to realizing the dream of a single assay for universal disease detection.”
The research team includes Weihua Zeng, Shuo Li, and Yonggang Zhou, who served as co-first authors, and was supported in part by grants from the National Cancer Institute.
