Landmark Blood-Based AI Lung Cancer Screening Test Study Results Published in Cancer Discovery

The transformative approach to genomic sequencing yields the first validated high-sensitivity lung cancer screening test that could close gaps in screening.

BALTIMORE and PALO ALTO, Calif., June 3, 2024 /PRNewswire/ -- DELFI Diagnostics, Inc., a developer of accessible blood-based AI tests that deliver a new way to enhance cancer detection, today announces the publication of groundbreaking data in the prestigious journal Cancer Discovery from the company's L101 study, "Clinical validation of a cell-free DNA fragmentome assay for augmentation of lung cancer early detection". The report details the performance and potential of DELFI's FirstLook Lung test. This milestone study, led by top researchers in the field, marks a significant advancement in aiding blood-based cancer detection.

FirstLook Lung is the first validated high-sensitivity test designed to close the persistent gap and shortfall observed in lung cancer screening. Lung cancer claims more lives of both men and women than any other cancer. Yet despite strong evidence from randomized trials that lung cancer screening is highly effective at reducing the burden and harms of this disease, only 5% of those eligible are screened each year according to the American Lung Association. Introducing a high-sensitivity blood-based lung cancer screening test with the validated performance of FirstLook Lung, the study authors project that even modest utilization could translate to thousands of prevented deaths from lung cancer.

Key Findings and Implications
The study, titled "Clinical validation of a cell-free DNA fragmentome assay for augmentation of lung cancer early detection" involved 958 participants, divided into a group for test training, and a separate independent group for test validation. The authors detail the genomic elements derived through low-cost whole genome sequencing and show in the independent validation group that both sensitivity and specificity are remarkably consistent across patient subgroups that differ in demographics, comorbidities, and smoking history. They then present the potential population health impact of the test if used to augment lung cancer screening in the United States, showing that even modest utilization would translate into meaningful shifts toward early-stage diagnosis and downstream reductions in lung cancer deaths.

Key findings include:

1. Sensitivity: 80% in a screening population across stages of disease
2. Negative Predictive Value (NPV): 99.8%, meaning a test result of "not elevated" equates to a 2 in 1,000 chance someone has lung cancer
3. Relative Risk: The likelihood of lung cancer found by low dose computed tomography scan is 5.5 times higher for individuals with a FirstLook Lung "elevated" versus "not elevated" result.

L101 principal investigator, Peter J. Mazzone, M.D. noted that "To improve lung cancer screening outcomes at scale, a low-cost test with high sensitivity and high NPV is essential. The results of the validation show that DELFI's test meets these criteria, and our models show the potential population health benefits achievable through even modest adoption. We are long overdue in our need to close lung cancer screening's gaps."

DELFI Chief Medical Officer, Peter B. Bach, M.D., commented: "This publication in Cancer Discovery is just our first step toward improving screening rates with a widely accessible test now available as a laboratory-developed test (LDT). We are making the test available to partners and customers who share our vision and are committed to improving screening rates across populations in need. We remain committed to additional prospective assessment of the test and platform under our breakthrough device designation with the FDA and in our international collaborations."

DELFI Founder Victor Velculescu, M.D. PhD, commented: "Five years ago, we published a seminal study showing the insights available in the cancer fragmentome for noninvasive cancer detection. Seeing this translated into a high-performing test for early detection of lung cancer that can be accessible to all is what scientists dream about."

About FirstLook Lung
FirstLook Lung evaluates patterns of DNA fragments in the blood that reveal the presence of lung cancer. In an independent validation, FirstLook Lung was shown to have 80% sensitivity in a screening population, including detection of the earliest stages of the disease. The test also demonstrated a negative predictive value (NPV) of 99.8 percent for determining if lung cancer would be discovered on a screening Chest CT. Early detection is key to improving patient outcomes.

About Lung Cancer
Lung cancer is the number one cause of cancer death globally and in the United States where it accounts for 25 percent of all cancer deaths – just as many deaths as the other four cancers for which screening is recommended combined (colon, prostate, breast, and cervical cancer). Screening rates for those other cancers are in the 60 to 70 percent range, but lung cancer screening with low-dose CT scans is received by only approximately six percent of screen-eligible adults in the U.S. annually. This means that 14.1 million Americans who should be getting screened every year for lung cancer are not doing so. According to the 2021 USPSTF lung cancer screening guidelines, individuals eligible for screening include those 50 to 80 years of age, and who currently smoke or have quit within the last 15 years and have a 20-pack year or more smoking history. Detecting cancer early can improve outcomes. The low rate of lung screening is an important reason why the disease's five-year survival rate in the U.S. is only 23 percent.

About DELFI Diagnostics
DELFI Diagnostics is developing next-generation, blood-based tests that are accurate, accessible, and deliver a new way to help detect cancer. DELFI tests are built to solve the highest-burden population health issues, including in historically underserved demographics, and have the potential to save lives on a global scale. FirstLook Lung, for individuals eligible for lung cancer screening, is our first laboratory-developed screening test and requires a simple blood draw that can be incorporated with routine blood work. The test is based on fragmentomics, the discovery that cancer cells are more chaotic than normal cells and, when they die, leave behind tell-tale patterns and characteristics of cell-free DNA (cfDNA) fragments in the blood. The DELFI platform applies advanced machine-learning technology to whole-genome sequencing data to assess individuals' cfDNA fragments against populations with and without cancer. FirstLook Lung uses these millions of data points to reliably identify individuals who may have cancer detected through low-dose CT, including early-stage disease, with a negative predictive value of 99.8 percent. This test has not been cleared or approved by the FDA. To learn more about the FirstLook Lung test, visit www.delfidiagnostics.com or www.firstlooktest.com.

SOURCE DELFI Diagnostics