Peer-Reviewed Evidence
Information on DELFI’s research findings have been published in respected scientific publications, at scientific and medical society events, and in thought-leading technical forums.
Literature
Combining cell-free DNA fragmentomes and total tumour volume improves prognostication and tumour response evaluation in patients with colorectal cancer liver metastases Crnovrsanin N, Zeeuw JM, Ali M, Kemna R, Alipanahi B, Lumbard K, et al. Combining cell-free DNA fragmentomes and total tumour volume improves prognostication and tumour response evaluation in patients with colorectal cancer liver metastases. eBioMedicine. (2025). doi:10.1016/j.ebiom.2025.106081 (2025).
Evaluating lung cancer clinical characteristics and tumor subtypes using cell-free DNA fragmentomes Milou Schuurbiers et al. J Clin Oncol 43, 8074-8074. DOI:10.1200/JCO.2025.43.16_suppl.8074 (2025).
Cancer treatment monitoring using cell-free DNA fragmentomes
van ‘t Erve, I., Alipanahi, B., Lumbard, K. et al. Nature Communications. 10.1038 – s41467-024-53017-7. (2024).
Early detection of ovarian cancer using cell-free DNA fragmentomes and protein biomarkers
Medina, J.E., Annapragada, A.V., Lof, P., et al. Cancer Discovery. 10.1158 – 2159-8290 CD-24-0393. (2024).
Innovations in Early Lung Cancer Detection: Tracing the Evolution and Advancements in Screening
Cotton, L.B., Bach, P.B., Cisar, C., et al. Journal of Clinical Medicine. 10.3390 – 2024.13.4911. (2024).
Clinical validation of a cell-free DNA fragmentome assay for augmentation of lung cancer early detection
Mazzone, P.J., Bach, P.B., Carey, J., et al. Cancer Discovery. 10.1158 – 2159-8290. CD-24-0519. (2024).
How AI Can Help Detect Lung Cancer Sooner.
Built-In August 8, 2024
Single-molecule genome-wide mutation profiles of cell-free DNA for non-invasive detection of cancer
Bruhm, D.C., Mathios, D., Foda, Z.H. et al. Nature Genetics. 10.1038 – s41588-023-01446-3 (2023)
Cell-free DNA fragmentomes in the diagnostic evaluation of patients with symptoms suggestive of lung cancer
Leal, A., Mathios, D., Jakubowski, D., et al. Chest. 10.1016 – 2023.04.033 (2023)
Detecting liver cancer using cell-free DNA fragmentomes. Foda Z., Annapragada A., Boyapati, K., et al. Cancer Discovery. CD-22-0659 (2022).
Detection and characterization of lung cancer using cell-free DNA fragmentomes. Mathios, D., Johansen, J.S., Cristiano, S. et al. Nat Commun. 12, 5060 (2021).
White blood cell and cell-free DNA analyses for detection of residual disease in gastric cancer.
Leal A, van Grieken NCT, Palsgrove DN, et al.
Nat Commun. 2020;11(1):525.
Genome-wide cell-free DNA fragmentation in patients with cancer. Cristiano S, Leal A, Phallen J, et al. Nature. 2019;570(7761):385-389.
Presentations
Implementation of a Blood-Based Screening Test to Address Low-Dose Computed Tomography Adherence Barriers within an Integrated Healthcare Delivery System. Anees, M., Solava, J., Crawford-Faucher, A., Moseley, S., Zaidi, A. Presented at Rescue Lung Society Annual Conference, October 24, 2025.
Implementation of a Blood-Based Screening Test to Address Low-Dose Computed Tomography Adherence Barriers within an Integrated Healthcare Delivery System. Anees, M., Sherry, C., Joseph, E., Muntazir Mehdi Khan, M., Brandenstein, L., Och, J., Mickus, T., Solava, J., Crawford-Faucher, A., Moseley, S., Zaidi, A. Presented at CHEST 2025, October 21, 2025.
Evaluating lung cancer clinical characteristics and tumor subtypes using cell-free DNA fragmentomes. Schuurbiers, M., Skidmore, Z., van der Leest, P., Cristiano, S., Medina, J., Graham, G., Jones, S., Millberg, L., Carey, J., Leal, A., Chesnick, B., Wu, T., Monkhorst, K., Bach, P., Dracopoli, N., Scharpf, R., Velculescu, V., van den Broek, D., Van den Heuvel, M., Rinaldi, L. Presented at ASCO 2025, May 31-June 2, 2025.
Improving the Efficiency of Lung Cancer Screening Through the Use of a Point-of-Care Blood-Based Lung Cancer Screening Test Prior to Low-dose CT. Cotton L, Bach P, Tennefoss D, et al. Presented at CHEST Annual Meeting: October 6-9, 2024.
Improving the Efficiency of Lung Cancer Screening Through a Blood-based Lung Cancer Screening Test Prior to Low-dose CT. Cotton L, Bach P, Kazerooni E, et al. Presented at IASLC World Conference on Lung Cancer: September 7-10, 2024.
FIRSTLUNG (L301): Cluster Randomized Trial Evaluating the Clinical Utility of DELFI’s Blood-Based Lung Cancer Screening Test. Cotton L, Bach P, Cisar C, et al. Presented at IASLC World Conference on Lung Cancer: September 7-10, 2024.
Cell-free DNA fragmentation profiling for monitoring therapeutic response in metastatic colorectal cancer. Alipanahi B, van ‘t Erve I, Lumbard K, et al. Presented at AACR Meeting: April 14-19, 2023.
Prospective evaluation of cell-free DNA fragmentomes for lung cancer detection. Mazzone P, Wong K, Tsay J, et al. Presented at AACR Meeting: April 14-19, 2023.
CASCADE-LUNG: Validation of a blood-based assay that evaluates cell-free DNA fragmentation patterns to detect lung cancer. Barta J, Freedland S, Mazzone P et al. Presented at AACR Meeting: April 14-19, 2023.
DELFI as a Real-Time Treatment Response Assessment for Patients with Cancer. Presented at AACR Meeting Online: April 8-13, 2022.
Genome-wide cfDNA fragmentation in patients with cancer and other diseases. Carey J, Jones S, Leal A, et al. Presented at 2021 ASCO Annual Meeting Online: June 4–8, 2021.
Modeling cell-free DNA fragment size densities for non-invasive detection of cancer. Carey J, Chesnick B, Butler D, Rongione M, Parmigiani G, Velculescu VE, Dracopoli NC, Scharpf RB. Presented at 2021 ASCO Annual Meeting Online: June 4–8, 2021.
Detecting cancer using genome wide cfDNA fragmentation in a prospective diagnostic cohort.
Carey J, Leal A, Chesnick B, et al. Presented at
Virtual AACR Annual Meeting Week 1: April 10-15, 2021.
L101 - Groundbreaking Validation of the FirstLook Lung Test
In this case control study, participants with and without lung cancer were enrolled and provided blood samples to develop the FirstLook™ Lung test. The primary objective of the study was to train and validate a high performing blood-based lung cancer screening test for lung cancer early detection.
STATUS: The results of the L101 trial have been published in Cancer Discovery. Enrollment is closed.
CASCADE-LUNG (Cancer Screening Assay using DELFI) - L201
CASCADE-LUNG is a prospective cohort validation study of the FirstLook™ Lung test in individuals eligible for lung cancer screening. This large-scale study will help determine the ability of our simple, blood-based screening technology to detect lung cancer accurately and reliably.
STATUS: Enrollment is closed.
L301 - FIRSTLUNG
FIRSTLUNG is a prospective, cluster randomized controlled trial to observe the impact of the FirstLook™ Lung cancer screening test on lung cancer screening utilization in primary care practices. Approximately 62 practices are expected to be enrolled.
STATUS: Enrollment is closed.