Researchers at the University of California, Los Angeles have created a simple and relatively inexpensive blood test called MethylScan that successfully detects multiple types of cancer, liver diseases, and organ abnormalities from a single blood draw. Described in the journal Proceedings of the National Academy of Sciences, the technique examines natural fragments of genetic material circulating in the bloodstream to provide an affordable way to detect diseases earlier and offer a broad picture of a patient’s health.
UCLA Researchers Develop Low-Cost MethylScan Blood Test for Multiple Cancers and Organ Diseases
Early detection is crucial,
said Dr. Jasmine Zhou, the study’s senior author, a professor of pathology and laboratory medicine and an investigator 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.
How MethylScan Analyzes Cell-Free DNA and Methylation Patterns
The test works by analyzing cell-free DNA, which consists of small fragments of genetic material released into the bloodstream as cells die. According to researchers, between 50 billion and 70 billion cells die in the human body every day, depositing DNA into circulation that carries information from organs throughout the body.
While existing liquid biopsies often search for genetic mutations, they typically examine a limited set of changes and can be costly due to the extensive sequencing required to find weak signals. The UCLA team took a different approach by focusing on DNA methylation, which involves chemical tags on DNA that regulate gene activity. Because different tissues have distinct methylation patterns that shift when cells become cancerous or diseased, these markers reflect the health status of a specific tissue.
To reduce background noise and maintain sensitivity, the test uses a genome-wide hybridization panel to enrich the sample for methylated DNA from solid organs. This allows the method to rely on far less sequencing, requiring only 5 gigabases of data to reach an effective sequencing depth of 300× per sample. Researchers noted that if sequencing costs remain below $4 per gigabase, that amount of data would cost less than $20.
Evaluation Across More Than 1,000 Participants and Tissue-of-Origin Tracing
The research team evaluated MethylScan using blood samples from 1,061 individuals. The study group included healthy participants, individuals with benign lung nodules, patients with liver, lung, ovarian, and stomach cancers, and people with liver conditions such as hepatitis B, hepatitis C, alcohol-related liver disease, and metabolic-associated liver disease.
Using machine learning algorithms to interpret complex methylation patterns, MethylScan achieved high overall accuracy for detecting multiple cancers:
- General Cancer Detection: At 98% specificity to produce few false positives, the test identified approximately 63% of cancers across all stages.
- Early-Stage Cancers: The method detected roughly 55% of early-stage cancers.
- High-Risk Liver Cancer Monitoring: Among individuals with liver cirrhosis or hepatitis B virus, the test detected nearly 80% of liver cancer cases at a specificity just above 90%, yielding a false positive rate of under 10%.
Furthermore, MethylScan was able to trace abnormal signals back to their tissue of origin, helping determine which part of the body produced the signal. 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,
researchers noted.
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