Researchers at Tel Aviv University have demonstrated a blood test that can identify lung cancer by analyzing the methylation pattern of cell-free DNA without sequencing the genetic code. The study, published in npj Precision Oncology, was led by Prof. Yuval Ebenstein in collaboration with JaxBio Technologies, Bnai Zion Medical Center and Sheba Medical Center.
The method extracts cell-free DNA from a blood sample, labels it with a fluorescent marker and binds it to a custom DNA chip. An optical scanner then reads the resulting light patterns, producing a chemical fingerprint that distinguishes cancer-derived DNA from healthy DNA.
In a cohort of 103 participants — 51 lung cancer patients and 52 healthy controls — the test achieved a sensitivity of 93.1% and a specificity of 90.3% for stage 2–4 disease after a model-training phase and blinded validation using a signature of 170 genomic regions.
The assay also differentiated between the two main histological subtypes, adenocarcinoma and squamous cell carcinoma, based on distinct methylation signatures.
Beyond diagnosis, the researchers explored whether the fingerprint could track treatment response. In a small set of patients, the chemical profile shifted toward the healthy pattern in those whose tumors responded to therapy, while non-responders showed no significant change. The authors caution that this monitoring signal is preliminary and requires confirmation in larger studies.
The current protocol takes two to three days and costs approximately $60 per sample. The team aims to make the test a practical complement to CT imaging, which often yields false-positive nodules that lead to invasive follow-up procedures.
Prof. Ebenstein said the goal is to provide an accessible, sequencing-free tool that can be implemented in standard clinical laboratories for both early detection and treatment monitoring.
Simple blood test on a chip could help diagnose lung cancer
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