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Innovative blood test improves accuracy of lung cancer screening
Last reviewed: 02.07.2025
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In a recent study published in the journal Cancer Discovery, researchers developed and validated a blood-based cell-free DNA (cfDNA) fragment assay to detect lung cancer, which, if positive, is followed by low-dose computed tomography (LDCT).
Lung cancer is a leading cause of death and annual screening is important. However, low uptake of LDCT due to patient barriers such as lack of awareness, concerns about radiation and limited availability pose challenges. Other challenges include poor smoking history recording, lack of certain practices and specialist follow-up.
In the DELFI-L101 study, researchers developed a hematology test using machine learning to analyze DNA fragments and identify people at risk of lung cancer. Those who test positive are referred for LDCT.
Beginning in March 2021, researchers enrolled 958 individuals aged 50–80 years with a smoking history of ≥20 pack-years at 47 sites in the United States. Participant eligibility criteria matched the 2015 National Health Interview Survey (NHIS) LDCT screening criteria.
Subjects with oncological therapy within 1 year, history of hematological malignancies or myelodysplasia, organ transplantation, blood transfusion within 120 days, pregnancy, and participation in other studies were excluded.
The researchers observed a test specificity of 58%, a sensitivity of 84%, and a negative predictive value (NPV) of 99.8%. When the test was applied to a screening-eligible population with a 0.7% prevalence of lung cancer, the number needed to screen (NNS) was 143.
Validation results showed that negative and positive findings were associated with NNS using LDCT to detect 414 and 76 cases, respectively, yielding a relative risk value of 5.5. The positive predictive value (PPV) was almost twice that using LDCT selection criteria alone.
Analysis of cfDNA fragments from patients with lung squamous cell carcinoma (LUSC) revealed a component resembling cfDNA profiles in healthy individuals and another resembling open and closed chromatin regions noted in LUSC tissues.
The study showed that DNA fragment analysis provides a new, accurate, affordable tool for the initial evaluation of lung cancer followed by LDCT.
This analysis could help prevent lung cancer-related deaths, with modest adoption rates that could reduce late-stage diagnoses and deaths.