The Liquid Biopsy Consortium - Challenges and opportunities for early cancer detection and monitoring

Sep 24, 2026

Uploaded by Mimi

The emerging field of liquid biopsy enables minimally invasive molecular characterization of cancer to support diagnosis, treatment stratification, and longitudinal monitoring. Liquid biopsy approaches detect and track circulating tumor cells, cell-free DNA, and extracellular vesicles, and the review summarizes current liquid-biopsy modalities and their roles in diagnostics and monitoring. It highlights technical and clinical challenges, focusing on the Liquid Biopsy Consortium’s work addressing biomarker development, validation, and recommendations for advancing assay performance.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages12

Reading Time30 min

AccessFree to download

Summary

Introduction

Clinical need for early diagnosis

Limits of imaging and tissue biopsy

Liquid biopsy approaches and evidence gaps

Role of large multi-institution collaborations

Liquid Biopsy Consortium: methods, validation, and recommendations

ll OPEN ACCESS Review The Liquid Biopsy Consortium: Challengesand opportunities for early cancer detection and monitoring Syeda Maheen Batool,1,16 Anudeep Yekula,1,16 Prerna Khanna,1 Tiffaney Hsia,1 Austin S. Gamblin,1 Emil Ekanayake,1 Ana K. Escobedo,1 Dong Gil You,1 Cesar M. Castro,1 Hyungsoon Im,1 Tugba Kilic,1 Michelle Andrea Garlin,1 Johan Skog,2 Daniela M. Dinulescu,3 Jonathan Dudley,4 Nishant Agrawal,5 Jordan Cheng,6 Fereidoun Abtin,6 Denise R. Aberle,6 David Chia,6 David Elashoff,6 Tristan Grognan,6 Kostyantyn Krysan,6 Scott S. Oh,6 Charles Strom,6 Michael Tu,15 Fang Wei,6 Rena R. Xian,4 Steven J. Skates,1 David Y. Zhang,7 Thi Trinh,8 Mark Watson,9 Rebecca Aft,9 Siddarth Rawal,9,10 Ashutosh Agarwal,11 Susan B. Kesmodel,11 Changhuei Yang,12 Cheng Shen,12 Fred H. Hochberg,13 David T.W. Wong,6 Abhijit A. Patel,8 Nickolas Papadopoulos,4 Chetan Bettegowda,4 Richard J. Cote,9,10 Sudhir Srivastava,14 Hakho Lee,1 Bob S. Carter,1,17 and Leonora Balaj1,17,* 1Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA 2Exosome Diagnostics Inc. , Waltham, MA, USA 3Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA 4Johns Hopkins University School of Medicine, Baltimore, MD, USA 5University of Chicago School of Medicine, Chicago, IL, USA 6University of California Los Angeles, Los Angeles, CA, USA 7Rice University, Houston, TX, USA 8Yale University School of Medicine, New Haven, CT, USA 9Washington University School of Medicine, St. Louis, MO, USA 10Circulogix Inc. , St. Louis, MO, USA 11University of Miami, Miami, FL, USA 12California Institute of Technology, Pasadena, CA, USA 13Scintillon Institute, La Jolla, CA, USA 14Cancer Biomarkers Research Group, Division of Cancer Prevention, National Cancer Institute, Bethesda, MD, USA 15Liquid Diagnostics LLC. , Los Angeles, CA, USA 16These authors contributed equally 17Senior authors *Correspondence: [balaj.leonora@mgh.harvard.edu](balaj.leonora@mgh.harvard.edu)[ ](balaj.leonora@mgh.harvard.edu)[https://doi.org/10.1016/j.xcrm.2023.101](https://doi.org/10.1016/j.xcrm.2023.101)198 SUMMARY The emerging ﬁeld of liquid biopsy stands at the forefront of novel diagnostic strategies for cancer and other diseases. Liquid biopsy allows minimally invasive molecular characterization of cancers for diagnosis, patient stratiﬁcation to therapy, and longitudinal monitoring. Liquid biopsy strategies include detection and monitoring of circulating tumor cells, cell-free DNA, and extracellular vesicles. In this review, we address the current understanding and the role of existing liquid-biopsy-based modalities in cancer diagnostics and monitoring. We speciﬁcally focus on the technical and clinical challenges associated with liquid biopsy and biomarker development being addressed by the Liquid Biopsy Consortium, established through the National Cancer Institute. The Liquid Biopsy Consortium has developed new methods/assays and validated existing methods/technologies to capture and characterize tumor-derived circulating cargo, as well as addressed existing challenges and provided recommendations for advancing biomarker assays. INTRODUCTION Cancer remains the second leading cause of death in the United States, with more than 1.8 million new cancer diagnoses and more than 0 .6 million cancer deaths each year.1 With such an overwhelming burden on society, early cancer diagnosis is imperative to increasing survival rates and reducing care costs. For example, to date, as a result of population screening with invasive modalities such as colonoscopy, mammogram, and pap smear, overall cancer mortality has decreased by more than 25% from 1990 to 2015 in the United States, with a signiﬁcant decline in mortality rates for colon cancer and breast cancer.2 Although imaging (breast) and some blood-based screenings (colorectal, prostate cancer) are available for certain cancers, these modalities do not provide insights into the genetic p

FAQs

What is liquid biopsy used for in cancer care?

Liquid biopsy supports minimally invasive diagnosis through molecular characterization, helps stratify patients for therapy, and enables longitudinal monitoring of cancer.

Which biological components are commonly analyzed in liquid biopsy?

Common targets include circulating tumor cells, circulating nucleic acids such as cell-free DNA and RNA (including miRNA and lncRNAs), extracellular vesicles, tumor-educated platelets, proteins, and metabolites.

Why is multi-institutional collaboration important for liquid biopsy assays?

Large-scale collaboration is needed to develop reliable, reproducible, and clinically useful assays, addressing reproducibility and validation limitations seen in many single-center studies.

Sep 24, 2026

Uploaded by Mimi