Liquid biopsy

Liquid biopsy (LB) is a minimally invasive method which aims to detect circulating tumor-derived components in body fluids. It provides an alternative to current cancer screening methods that use tissue biopsies for the confirmation of diagnosis. The revolutionary precision that molecular diagnostics can bring to healthcare and the dramatic improvements it can bring to oncology screening and treatment are now widely recognized. However, progress is hampered by several logistical and technical factors.

The demand for LB tests is inevitably influenced by organizational issues relating to standardization, guidelines, and awareness among physicians and in the patient community, while supply of the tests is a function of the related infrastructure, arrangements for paying for procedures and materials, and how far underlying evidence generates calls for testing. Joint work at both the national and European level should concentrate on promoting cooperation among the widest range of stakeholders.

The development of LB assays is often based on the analysis of whole-genome sequencing (WGS) or whole-exome sequencing (WES) data from tumor tissue samples. It can be further processed into large and/or customized gene panels. The Integrated Mutation Profiling of Actionable Cancer Targets gene panel is FDA approved and was originally developed as a next-generation sequencing (NGS) hybrid assay for targeted deep sequencing. The FDA has already approved several single-gene tests and, more recently, multigene tests to detect genetic changes in plasma cell-free DNA (cfDNA). They would be used as companion diagnostics aligned with specific molecularly targeted therapies for cancer. These approvals are a major milestone for the widespread use of LB in the clinic, particularly in patients with advanced cancer.

DOCUMENTS

Policy papers

Please see the following relevant documents

Accelerating the Development and Validation of Liquid Biopsy for Early Cancer Screening and Treatment Tailoring

STEPs Campaign

Integrating Biomarkers into cancer clinical trials

Overview of Clinical Trials

Pathways for Biomarkers

Objectives

Let’s dive into the specifics of our objectives and work together to turn our vision into reality.

The anecdotal evidence from the EAPM panels included the following areas of weakness in the current arrangements regarding liquid biopsy:

Failings in communication among HCPs: A considerable number of pathologists and clinicians especially are not yet familiar with NGS results and with LB outside of a clinical trial or a research study, so they receive a report and do not know what to do with it;
Information, guidance, and recommendations vary too much across Europe;
Clinicians often take distinct approaches in response to the same results;
Lack of molecular tumor boards in some parts of Europe;
Patient awareness is insufficient, and patient contact is too limited: Patients who take part in research studies come in to get a blood draw and receive little or no feedback;
Limitations remain regarding the use of LB and how it helps patients when we do not have treatments for ovarian cancer;
Limited access to early stage samples of cancers;
No universal standard for sample processing exists;
Absence of networks for sending patients to clinical trials across borders;
Lack of reimbursement deprives patients of access, but also discourages innovators from investing;
Technology and methods are always evolving, making them overwhelming to incorporate;

Activities

Navigate through the engaging landscape of EAPM activities, where innovation meets execution!.

Consensus Panel:
Accelerating the Development and Validation of Early Cancer Screening & Liquid Biopsy Technologies', on March 10th, 2022.

Key focus areas of the Roundtable:

Early detection of cancer, i.e., the use of blood tests for the early detection of (multiple) cancers.

The use of liquid biopsies following curative treatment to guide adjuvant therapy, such as to guide adjuvant systemic treatment in colorectal or breast cancer.

Cancer treatment selection and monitoring, i.e., the use of liquid biopsies to select targeted treatment, monitor progressive disease and response to treatment.