Evidence map›Paper›PMID 38829053›Full record

ArticleCancer discovery2024

Clinical Validation of a Cell-Free DNA Fragmentome Assay for Augmentation of Lung Cancer Early Detection.

Peter J Mazzone, Peter B Bach, Jacob Carey, Caitlin A Schonewolf, Katalin Bognar, Manmeet S Ahluwalia, Marcia Cruz-Correa, David Gierada, Sonali Kotagiri, Kathryn Lloyd and 28 more

Registry-linked trialAbstract readValidation Study
In one paragraph

Article in Cancer discovery, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04825834 (DNA Evaluation of Fragments for Early Interception - Lung Cancer Training Study), which is not on this map. Cited by 43 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed, 2 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT04825834 completednot on this map

DNA Evaluation of Fragments for Early Interception - Lung Cancer Training Study (DELFI-L101 Study)

TypeobservationalSponsorDelfi Diagnostics Inc.Ran2021 to 2025Enrolled2,992ConditionsLung Cancer, Head and Neck Cancer, Esophageal Cancer, Bladder CancerArmsBlood Sample Collection
3 · Its place in the literature

Who cites it

43 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Clinical value of combinedOncology reviews · 2026
    Pooled it
  3. Article
  4. Article
  5. Review
  6. [Expert Consensus on Precision Management of Pulmonary Nodules (2026 Version)].Zhongguo fei ai za zhi = Chinese journal of lung cancer · 2026
    Article
  7. Review
  8. Review
  9. Article
  10. Article
  11. Review
  12. Article
  13. Review
  14. Article
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  16. Review
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  18. Advances in the Basic Sciences in Thoracic Oncology in the Last 20 Years and Their Translational Impact.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2026
    Review
  19. Review
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

38 authors.

Peter J MazzoneCleveland Clinic, Cleveland, Ohio.ORCID 0000-0003-2121-0595
Peter B BachDELFI Diagnostics, Baltimore, Maryland.ORCID 0000-0001-5175-402X
Jacob CareyDELFI Diagnostics, Baltimore, Maryland.ORCID 0000-0001-9462-206X
Caitlin A SchonewolfDELFI Diagnostics, Baltimore, Maryland.ORCID 0009-0005-8433-7536
Katalin BognarMedicus Economics, LLC, Formerly PHAR, San Francisco, California.ORCID 0000-0001-8357-8569
Manmeet S AhluwaliaMiami Cancer Institute, Baptist Health South Florida, Miami, Florida.ORCID 0000-0003-3794-9511
Marcia Cruz-CorreaPan American Center for Oncology, San Juan, Puerto Rico.ORCID 0000-0001-8147-7457
David GieradaWashington University at St. Louis, St. Louis, Missouri.ORCID 0000-0002-9102-4475
Sonali KotagiriDELFI Diagnostics, Baltimore, Maryland.
Kathryn LloydCentura Health, Aurora, Colorado.ORCID 0009-0002-5312-4632
Fabien MaldonadoVanderbilt Health, Nashville, Tennessee.ORCID 0000-0002-6504-2063
Jesse D OrtendahlStratevi, Formerly PHAR, San Francisco, California.ORCID 0009-0002-6808-8267
Lecia V SequistMassachusetts General Hospital, Boston, Massachusetts.ORCID 0000-0002-8965-6991
Gerard A SilvestriMedical University of South Carolina, Charleston, South Carolina.ORCID 0000-0002-8464-2187
Nichole TannerDepartment of Veterans Affairs, Charleston, South Carolina.ORCID 0000-0003-3768-1973
Jeffrey C ThompsonDivision of Pulmonary, Allergy and Critical Care Medicine, Thoracic Oncology Group, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Anil VachaniDivision of Pulmonary, Allergy and Critical Care Medicine, Thoracic Oncology Group, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.ORCID 0000-0002-3871-8697
Kwok-Kin WongNew York University Langone Health, New York, New York.ORCID 0000-0001-6323-235X
Ali H ZaidiAllegheny Health Network, Pittsburgh, Pennsylvania.ORCID 0000-0002-5463-2252
Joseph CatalliniDELFI Diagnostics, Baltimore, Maryland.ORCID 0000-0001-5949-0399
Ariel GershmanDELFI Diagnostics, Baltimore, Maryland.ORCID 0000-0001-8899-8781
Keith LumbardDELFI Diagnostics, Baltimore, Maryland.ORCID 0009-0000-9937-5512
Laurel K MillbergDELFI Diagnostics, Baltimore, Maryland.ORCID 0000-0003-1977-8069
Jeff NawrockiDELFI Diagnostics, Baltimore, Maryland.ORCID 0000-0002-1521-9131
Carter PortwoodDELFI Diagnostics, Baltimore, Maryland.ORCID 0009-0007-6360-9832
Aakanksha RangnekarDELFI Diagnostics, Baltimore, Maryland.ORCID 0009-0009-9098-6320
Carolina Campos SheridanDELFI Diagnostics, Baltimore, Maryland.ORCID 0009-0009-1872-9186
Niti TrivediDELFI Diagnostics, Baltimore, Maryland.ORCID 0000-0002-3967-6492
Tony WuDELFI Diagnostics, Baltimore, Maryland.ORCID 0009-0003-8029-5987
Yuhua ZongDELFI Diagnostics, Baltimore, Maryland.ORCID 0009-0008-1623-3067
Lindsey CottonDELFI Diagnostics, Baltimore, Maryland.ORCID 0009-0001-4736-6160
Allison RyanDELFI Diagnostics, Baltimore, Maryland.ORCID 0000-0003-4590-9317
Christopher CisarDELFI Diagnostics, Baltimore, Maryland.ORCID 0009-0002-2936-5129
Alessandro LealDELFI Diagnostics, Baltimore, Maryland.
Nicholas DracopoliDELFI Diagnostics, Baltimore, Maryland.ORCID 0000-0003-3962-4059
Robert B ScharpfSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0003-4702-2656
Victor E VelculescuSidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.ORCID 0000-0003-1195-438X
Luke R G PikeMemorial Sloan Kettering Cancer Center, New York, New York.ORCID 0000-0001-9622-7442

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4M
Translational Research Central ServicesP30CA006973 · NCI · JOHNS HOPKINS UNIVERSITY · PI WILLIAM George NELSON · 1985 to 2026
$208.6M
Tumor Antigens for Individual Signatures and TherapyP50CA062924 · NCI · JOHNS HOPKINS UNIVERSITY · PI JAFFEE, ELIZABETH M. · 1993 to 2022
$54.6M
ECOG-ACRIN Thoracic Malignancies Integrated Translational Science CenterUG1CA233259 · NCI · EMORY UNIVERSITY · PI CARBONE, DAVID P., LEAL, TICIANA · 2019 to 2025
$5.1M
Large-Scale Genetic Analyses of Human CancerR01CA121113 · NCI · JOHNS HOPKINS UNIVERSITY · PI ANAGNOSTOU, VALSAMO, VELCULESCU, VICTOR E. · 2006 to 2022
$4.3M
DNA evaluation of fragments for early interception (DELFI) of Lung cancerU01CA271896 · NCI · JOHNS HOPKINS UNIVERSITY · PI DAVID SIDRANSKY, Victor E. Velculescu · 2023 to 2026
$3.8M
Cole Foundation (CF)Commonwealth Foundation (CF)Dr. Miriam and Sheldon G. Adelson Medical Research Foundation (AMRF)Gray FoundationHonorable Tina Brozman Foundation (Tina's Wish)NCI NIH HHS P30 CA006973NCI NIH HHS P30 CA008748NCI NIH HHS P50 CA062924NCI NIH HHS R01 CA121113NCI NIH HHS U01 CA271896NCI NIH HHS UG1 CA233259Stand Up To Cancer (SU2C)
6 · The paper itself

Abstract

Lung cancer screening via annual low-dose computed tomography has poor adoption. We conducted a prospective case-control study among 958 individuals eligible for lung cancer screening to develop a blood-based lung cancer detection test that when positive is followed by a low-dose computed tomography. Changes in genome-wide cell-free DNA fragmentation profiles (fragmentomes) in peripheral blood reflected genomic and chromatin characteristics of lung cancer. We applied machine learning to fragmentome features to identify individuals who were more or less likely to have lung cancer. We trained the classifier using 576 cases and controls from study samples and validated it in a held-out group of 382 cases and controls. The validation demonstrated high sensitivity for lung cancer and consistency across demographic groups and comorbid conditions. Applying test performance to the screening eligible population in a 5-year model with modest utilization assumptions suggested the potential to prevent thousands of lung cancer deaths. Significance: Lung cancer screening has poor adoption. Our study describes the development and validation of a novel blood-based lung cancer screening test utilizing a highly affordable, low-coverage genome-wide sequencing platform to analyze cell-free DNA fragmentation patterns. The test could improve lung cancer screening rates leading to substantial public health benefits. See related commentary by Haber and Skates, p. 2025.

Indexed as

Cell-Free Nucleic AcidsEarly Detection of CancerLung NeoplasmsAgedBiomarkers, TumorCase-Control StudiesFemaleHumansMaleMiddle AgedProspective StudiesBiomarkers, TumorCell-Free Nucleic Acids

Identifiers

PMID38829053
PMCPMC11528203

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.