Circulating Tumor Cells and Liquid Biopsy Track Banner

Cambridge Healthtech Institute’s 12th Annual

Circulating Tumor Cells and Liquid Biopsy

Enabling Precision Oncology for Diagnostic and Drug Development

February 21-22, 2022


Liquid biopsy is a maturing technology for early detection of disease, patient stratification and therapy selection, monitoring response to therapy, and detecting disease recurrence. Cambridge Healthtech Institute’s 12th Annual Circulating Tumor Cells and Liquid Biopsy meeting will explore the latest technologies in detection and molecular characterization of CTCs, cell-free circulating tumor DNA (cfDNA) and circulating extracellular RNA, exosomes and microvesicles, as well as the applications of liquid biopsy in diagnostics and drug development.

Monday, February 21

7:00 am Registration Open and Morning Coffee (Indigo West Foyer AB)



7:55 am

Chairperson's Remarks

Dave S.B. Hoon, PhD, Director, Translational Molecular Medicine and Genome Sequencing, Saint John's Cancer Institute
8:00 am

Liquid Biopsy – From Discovery to Clinical Implementation

Klaus Pantel, PhD, Professor, Medicine & Director & Chairman, Institute of Tumor Biology, University Hospital Hamburg, Eppendorf

The molecular analysis of circulating tumor cells (CTCs) and cell-free tumor DNA (ctDNA) in blood can provide clinically relevant information as “liquid biopsy,” which provides information on tumor biology, early detection of cancer, identification of cancer patients at risk to develop relapse (prognosis), and monitoring tumor evolution, therapeutic targets or mechanisms of resistance. Technical standardization and clinical validation of liquid biopsy assays are essential and currently performed by the Cancer-ID/European Liquid Biopsy Society consortium (

8:30 am

Large Cancer Fingerprint Screening for Detection of Minimal Residual Disease

Viktor A. Adalsteinsson, PhD, Associate Director, Gerstner Center for Cancer Diagnostics, Broad Institute of MIT and Harvard

Liquid biopsies could enable cancer treatment response monitoring including the detection of minimal residual disease. I will describe our team's efforts to increase the sensitivity of liquid biopsies to detect low parts-per-million levels of circulating tumor DNA from blood. My talk will include new genomic technologies as well as their application to small clinical studies.

9:00 am

Genome-Wide cfDNA Fragmentation in Patients with Cancer

Nicholas C. Dracopoli, PhD, CSO, Delfi Diagnostics

Cell-free DNA (cfDNA) consists of small nucleic acid fragments entering the bloodstream during apoptosis or necrosis. cfDNA fragmentation patterns detected by low-coverage whole genome sequencing can be used to detect the presence of circulating tumor DNA (ctDNA) in a background of cfDNA mostly derived from hematologic cells. This presentation will describe the development of a blood-based, whole-genome, next-generation sequencing (NGS) test to detect early stages of cancer.

9:30 am Session Break


9:45 am Interactive Discussions (In-person only)

Interactive Discussions are informal, moderated discussions, allowing participants to exchange ideas and experiences and develop future collaborations around a focused topic. Each discussion will be led by a facilitator who keeps the discussion on track and the group engaged. For in-person events, the facilitator will lead from the front of the room while attendees remain seated to promote social distancing.  To get the most out of this format, please come prepared to share examples from your work, be a part of a collective, problem-solving session, and participate in active idea sharing. Please visit the Interactive Discussion page on the conference website for a complete listing of topics and descriptions.


10:15 am

Comprehensive Cancer Profiling with a Next-Generation Liquid Biopsy

Peter Kuhn, PhD, Director, USC Michelson CSI-Cancer; Dean’s Professor of Biological Sciences; Professor of Biological Sciences, Medicine, Biomedical Engineering, and Aerospace and Mechanical Engineering, University of Southern California

Liquid biopsy offers the ability to assess a cancer patient's tumor without a costly and invasive tissue biopsy. The Comprehensive Cancer Profiling with a Next-Generation Liquid Biopsy combines CTC analysis, single-cell genomics, and ctDNA sequencing to empower cellular and genomic characterization of the tumor. This talk will present the capabilities to clinical and translational research and how the next-generation liquid biopsy approach promises to revolutionize the development of future diagnostics and therapeutics.

10:45 am

Clinical Considerations for ctDNA across the Continuum of Cancer

Minetta C. Liu, MD, Professor & Research Chair, Oncology & Consultant, Lab Medicine & Pathology, Mayo Clinic & Foundation

Real-time identification of tumor-specific molecular alterations is the essence of precision oncology. Technologic advances allow for the detection of mutations, rearrangements, insertions/deletions, copy number alterations, and methylation patterns from peripheral blood DNA with increasing sensitivity. These “liquid biopsies” offer a less invasive, potentially more cost-effective tool to assess prognosis, treatment response, early diagnosis of recurrence, and multicancer early detection. Solutions to promote rapid translation into clinical practice are needed.

11:15 am

Multiplex Gene Expression Profiling of Circulating Tumor Cells Identifies Treatment-Resistant Prostate Cancer

Joshua M. Lang, MD, Associate Professor, Hematology & Oncology, University of Wisconsin, Madison
Brandon Young, Chief Science Officer, simplSEQ, Inc.

Enzymatic tailing of nucleic acids can revolutionize standard molecular biology tools. Dramatic improvements in the areas of isolation, purification, and sample preparation will lead to further advances in multi-omics analyses. 

12:15 pm Session Break
Seungpyo Hong, Professor of Pharmaceutical Sciences, Pharmaceutical Sciences and Biomedical Engineering, Capio

Introducing a biomimetic approach utilizing cell rolling and adhesion characteristics combined with nanotechnology to enable clinically significant detection and post-capture analysis of circulating tumor cells (CTCs). Join us as we present the integrated BioView-CapioCyte platform featuring a fully automated and standardized CTC enrichment tool with labeling and detection functions for clinical practice

Min-Seob Lee, PhD, CEO, EDGC

An overall information session on the current development of Liquid Biopsy and EDGC's LB service 'Oncocatch'

1:20 pm Session Break


1:30 pm

Chairperson's Remarks

Dave S.B. Hoon, PhD, Director, Translational Molecular Medicine and Genome Sequencing, Saint John's Cancer Institute
1:35 pm

Metastasis-Initiator Circulating Tumor Cells: One of the Keys to Understand the Biology of the Metastatic Cascade

Catherine Alix-Panabières, PhD, Associate Professor and Director, Laboratory of Rare Human Circulating Cells (LCCRH), University Medical Center of Montpellier, France

The emergence of immunotherapy in oncology requires the discovery, validation and subsequent adoption of robust, sensitive and specific predictive and prognostic biomarkers for daily practice. The use of a liquid biopsy could provide an important complementary or alternative added value to PD-L1 detection in tissue biopsy. In my talk, I will discuss how liquid biopsy could be used in the field of immuno-oncology to predict response or relapse for patients undergoing immune-checkpoint inhibitor therapy.

2:05 pm

Analytes in Liquid Biopsies as Oncologic Biomarkers for Early Detection and Drug Development

Gary J. Kelloff, MD, Special Advisor, Cancer Imaging Program, National Cancer Institute, NIH

Liquid biopsies are sources of response biomarkers to measure drug efficacy and monitor patient treatment (including detection of emerging resistance and MRD). Continually developing/improving technologies include CTCs, ctDNA, exosomes, epigenetics, nucleic acid fragments, and micro-RNAs. Analytical validation of the assays is essential and access to large datasets with clinical outcomes and analytics will determine future use. Liquid biopsy-based multi-cancer early detection assays are a recent promising development.

2:35 pm

1q21 Region Amplification as a Prognostic cfDNA Plasma Biomarker for Melanoma Patients on Immune Checkpoint Inhibitor Therapy

Dave S.B. Hoon, PhD, Director, Translational Molecular Medicine and Genome Sequencing, Saint John's Cancer Institute

1q21.3 amplification frequently occurs in metastatic melanoma. We determined the utility of 1q21.3 amplification detection of cfDNA to monitor inhibitor checkpoint immunotherapy (ICI) response in metastatic melanoma patients. CfDNA 1q21.3 amplification was analyzed in plasma by multiplex ddPCR from 50 patients receiving ICI. CfDNA from patients who had progressive disease had a higher frequency of 1q21.3 amplification. The specific genes in the 1q21.3 region represent prognostic biomarkers in melanoma patients.

Hyukjung Kwon, PhD, Director, AI Big Data, EDGC

The methylation pattern of plasma circulating-tumor DNA(ctDNA) is the most plentiful indicator of cancer types. The underlying pattern of cancer genomes is global hypomethylation at the intergenic region. This presentation will describe various methods for cfDNA methylation patterns analysis. In particular, we would like to share the results of applying MRE(Methylation-sensitive Restriction Enzyme)-seq, enriching and analyzing the de-methylated regions of cfDNA, and the possibility of using it for multi-cancer early detection.

Florian Battke, PhD, Director of Development, CeGaT GmbH

In recent years, analyses starting from formalin-fixed or fresh frozen tumor tissue samples were complemented by analyses starting from cell-free DNA extracted from patient blood plasma obtained in “liquid biopsies”, requiring validation with a well-defined control standard. In this talk we will cover the difficulties labs face when trying to establish such standards on their own, share our experience with a publicly available standard, present validation results and discuss some caveats.

3:35 pm Session Break



4:15 pm

Chairperson's Remarks

Robert C. Green, MD, MPH, Professor and Director of Genomes2People Research, Mass General Brigham, Broad Institute, Ariadne Labs and Harvard Medical School
Stephen Williams, MD, PhD, CMO, SomaLogic

Reliable outcomes prediction enables increased power in clinical trials and improved allocation of resources in clinical practice. The new discipline of using highly multiplexed measurements, machine learning and mixed study populations can lead to robust and generalized predictors of catastrophic and near-term risks. Key examples using SomaScan® proteomics for cardiovascular events, heart failure mortality and loss of kidney function will be shown.

4:30 pm

Universal Newborn Sequencing and the Path to Preventive Genomics

Robert C. Green, MD, MPH, Professor and Director of Genomes2People Research, Mass General Brigham, Broad Institute, Ariadne Labs and Harvard Medical School

Twenty years after the completion of the Human Genome Project, there is beginning to be broad acceptance for returning actionable genomic findings as an ethical imperative in large-scale genomic research, as secondary findings in indication-based sequencing, and as population-scale screening in forward-looking healthcare systems. While the evident data on patient-provider acceptability, clinical utility and cost-benefit are far from comprehensive, empirical research from many domains suggest that when unanticipated genomic information is delivered, patients are deeply interested and do not experience unusual distress, providers can manage disclosure and care with appropriate support, and downstream healthcare utilization is modest and appropriate. We recently completed the first randomized trial of comprehensive genome sequencing in healthy newborns and are beginning a multi-site second phase of this research (the NIH funded BabySeq Project). We present data from this and other studies to suggest that universal newborn sequencing may be well-tolerated and cost-effective, and may soon provide a platform for the lifelong use of genomics in risk stratification, disease mitigation and expanding longevity.

5:00 pm

Transforming Genomic Healthcare in the United Kingdom

Sir Mark Caulfield, PhD, Professor & Director, Clinical Pharmacology, The William Harvey Research Institute, Queen Mary University of London; CEO, Barts Life Sciences

The 100,000 Genomes Project focused on rare disease, cancer, and infection and demonstrated the potential of whole genomes to uplift diagnoses by 25% in rare disease, have a clinical utility for 25% of cancer patients, and discover 15 novel gene loci for severe COVID-19. Exploring of pharmacogenomics reveals many of us have genetic variants which if paired with a drug may cause harm. To do this we created a new National Test Directory where we evaluated 300,000 tests upgraded 25% to new technologies, and 500,000 whole genomes are available for rare disease and cancer care over the next 5 years. We have used this to transform the National Health Service with a new Genomic Medicine Service offering equitable access to 56 million people.

5:30 pm

Precision Health: Closing the Information and Decision Gaps

Jessica L. Mega, MD, MPH, Co-Founder and Chief Medical & Scientific Officer, Verily; Adjunct Professor, Stanford University School of Medicine

Genomic insights have proven to be powerful, from providing a better interpretation of the pathobiology of disease to tailoring medications based on pharmacogenetics. At the same time, there has been a growing appreciation that a multitude of inputs are needed to provide a comprehensive understanding of both the health of an individual and how it relates to the broader population. Accounting for (1) the highly complex interplay of biological, behavioral, environmental, and social systems, and (2) the changes in the cadence of data collection from episodic to continuous will be critical to improving clinical outcomes. The scale of data, from gigabytes to terabytes per individual, necessitates an updated framework to collect, organize, and activate this rich health information; recent advances in biomedical information systems and computation are making these activities possible. Additionally, tools to harness more comprehensive biological insights are being developed, and people are interacting more directly with their health data, along with the support of researchers and clinicians. All these efforts to close the information and decision gaps will ultimately advance precision health.


Precision Health: Convergence of Genomics, Digital MedTech and Healthcare

Panel Moderator:
Robert C. Green, MD, MPH, Professor and Director of Genomes2People Research, Mass General Brigham, Broad Institute, Ariadne Labs and Harvard Medical School

Precision Health promises a much-needed shift from “sick-care” to “healthcare.” Driven by innovations in genomics, medtech, and AI, precision health strategies can focus on prediction, prevention, and early detection for individualized health and wellness. The panel will discuss how genomics and digital health technologies can advance community-wide genetic screening and early disease detection, patient monitoring and preventative health strategies, personalized lifestyle and wellness approaches, and precision health equity.

Sir Mark Caulfield, PhD, Professor & Director, Clinical Pharmacology, The William Harvey Research Institute, Queen Mary University of London; CEO, Barts Life Sciences
Jessica L. Mega, MD, MPH, Co-Founder and Chief Medical & Scientific Officer, Verily; Adjunct Professor, Stanford University School of Medicine
Lara Jehi, MD, Chief Research Information Officer, Professor, Neurology, Cleveland Clinic
Megan Mahoney, MD, Clinical Professor, Primary Care & Population Health, Stanford University
6:30 pm Welcome Reception in the Exhibit Hall with Poster Viewing (Indigo BFGCDH)
7:30 pm Close of Day

Tuesday, February 22

7:30 am Registration Open and Morning Coffee (Indigo West Foyer AB)



7:55 am

Chairperson's Remarks

John Nolan, PhD, Professor, The Scintillon Institute
8:00 am

Single Vesicle Analysis of EV Heterogeneity: A Window on Tumor Heterogeneity

John Nolan, PhD, Professor, The Scintillon Institute

Extracellular vesicles (EVs) released by tumor cells carry molecular cargo from their cells of origin, making them attractive targets for liquid biopsy development. However, EVs are small and heterogeneous, making them difficult to measure reliably. High-resolution single vesicle flow cytometry (vFC) can directly count, size, and measure the cargo of individual EVs, enabling the identification of EV sub-types that can be targeted as part of liquid biopsy development.

8:30 am

BloodPAC Consortium: Defining Liquid Biopsy Standards to Accelerate Development, Approval & Accessibility

Lauren Leiman, Executive Director, BloodPAC

BloodPAC is a public-private consortium developing standards and best practice while operating a data commons to support the liquid biopsy community. In addition to developing standards and aggregating data, BloodPAC works collaboratively with all stakeholders in the field to broaden awareness and implementation of the suggested guidelines and establish a wider chain of feedback and discussion in the community. BloodPAC’s unique approach to collaboration in the field has led to the organization’s success and helps to guide our work into the future. Let's discuss the Consortium's approach, challenges and how BloodPAC enables sharing of information between stakeholders to accelerate progress.

Julie E. Lang, M.D., FACS, Chief of Breast Surgery, Co-Leader of the Breast Cancer Program, Division of Breast Services, General Surgery, Cancer Biology, Cleveland Clinic, Lerner Research Institute
9:30 am Coffee Break in the Exhibit Hall with Poster Viewing (Indigo BFGCDH)
10:10 am

Liquid Biopsies: A New Frontier

Razelle Kurzrock, MD, CMO, Chair, Clinical Trials Committee, Worldwide Innovative Network (WIN) for Personalized Cancer Therapy

Gene/immune-directed therapies are most effective in cancer subgroups harboring their cognate target. Critical advances in molecular testing involve liquid biopsies, wherein circulating tumor DNA (ctDNA)/circulating tumor cells (CTCs) are analyzed. Liquid biopsies are generally blood based, but can derive from ascites, cerebrospinal fluid, etc. A small tube of blood is exploitable for early cancer diagnosis, identifying molecular abnormalities in shed DNA from multiple metastases, and for monitoring post-treatment changes.

10:40 am

Novel Technologies for Mutation Enrichment and Biomarker Identification in Liquid Biopsies

G. Mike Makrigiorgos, PhD, Professor and Director, Medical Physics and Biophysics, Dana-Farber Cancer Institute, Brigham and Women's Hospital, and Harvard Medical School

As the potential of liquid biopsies for prognostic, predictive, or early cancer detection applications grows, so does the demand for technical advances that enable the ever-increasing range of applications. We present new technologies allowing highly parallel, PCR-free elimination of wild-type alleles, boosting the ability of all downstream detection methods for detecting point mutations in liquid biopsies and clinical samples. Developments boosting the detection of microsatellite mutations will also be described.

11:10 am

Protease Biomarkers for Liquid Biopsy Companion Diagnostics

Michael J. Heller, PhD, Professor Emeritus/Recall, University of California, San Diego

Proteases associated with cancer and other diseases represent an ideal class of biomarkers for liquid biopsy companion (protease inhibitor) diagnostics. Sample to answer assays that require only small volumes (~5-10 ul) of blood, plasma or serum can be carried out in 30-60 minutes using simple electrophoretic formats. Elevated levels of the digestive enzymes trypsin, chymotrypsin, and elastase, and MMP-2, 9 and Cathepsin-S were detected in numerous pancreatic, colorectal and other cancer patient samples.

11:40 am Session Break
Michael Dugan, MD, Senior Vice President, CMO & Medical Director, Biocept, Inc.

CNSide™ by Biocept, Inc. is a novel diagnostic assay using enhanced CSF tumor cell recovery, cell labeling, and digital imagery to provide a more accurate, quantitative tumor cell count and molecular characterization of these cells (such as HER2 amplification in breast cancer) to better manage patients with brain metastasis.  Microfluidic cell capture, immunochemistry, FISH, PCR, and NGS of cell-free DNA can be combined.  Dr. Dugan will feature several case studies illustrating how the assay has helped manage patients suffering from leptomeningeal disease (LM).

12:20 pm Refreshment Break in the Exhibit Hall with Poster Viewing (Indigo BFGCDH)
1:00 pm Close of Circulating Tumor Cells and Liquid Biopsy Conference

Register Now
March 26-27, 2024

AI in Precision Medicine

Implementing Precision Medicine

At-Home & Point-of-Care Diagnostics

Liquid Biopsy

Spatial Biology

March 27-28, 2024

AI in Diagnostics

Diagnostics Market Access

Infectious Disease Diagnostics

Multi-Cancer Early Detection

Single-Cell Multiomics