In cancer treatment, understanding the tumour is crucial for guiding therapy. The current standard for tumour analysis is the invasive needle or surgical biopsy. However, these biopsies have limitations, including invasiveness, cost, and sometimes inaccessibility of the tumour. Additionally, solid tumour biopsies only provide a snapshot of the tumour at a single point in time, missing the dynamic nature of the disease. Tumours evolve quickly, developing genetic mutations and subclones, which complicates treatment. Therefore, an evolving, heterogeneous tumour often requires evolving, heterogeneous treatments.
Researchers like Dr. Karen Page, who leads next-generation sequencing (NGS) in Professor Jacqui Shaw’s Lab at the Leicester Cancer Research Centre in the UK, have been working on non-invasive ‘liquid biopsies’ for decades. These biopsies, conducted through a simple blood draw, offer insights into tumours anywhere in the body, even those undetectable by imaging. Page and her colleagues, now recognised as international experts in liquid biopsy for breast cancer, aim to standardise this process for broader clinical use.
Liquid biopsy captures tumour biomarkers through blood plasma. These biomarkers include circulating tumour cells (CTCs) and cell-free DNA (cfDNA). Higher levels of cfDNA are typically associated with cancer due to uncontrolled tumour cell multiplication. The ctDNA subset within cfDNA provides valuable molecular insights into tumours, revealing point mutations, copy number alterations, rearrangements, and methylation changes. This genetic knowledge of tumour composition could significantly benefit patients and clinicians, helping to identify treatment options and monitor treatment efficacy.
Despite its potential, liquid biopsy is a temperamental process requiring standardisation. Dr. Page’s journey into cfDNA in breast cancer began over 20 years ago. Initially, the process of analysing DNA was laborious and time-consuming. Through trial and error, Page and her colleagues refined the protocols, determining the optimal methods for blood sample processing and storage to prevent cfDNA degradation and contamination.
By 2006, Page’s lab published improved techniques for sample processing. Today, the process has become more efficient, with automated tools like the KingFisher™ Flex and Dynabeads™ magnetic beads aiding cfDNA isolation. Advanced sequencing tools now enable the detection of low-level mutations, improving reproducibility and standardisation necessary for clinical application.
In collaboration with Thermo Fisher Scientific, Page’s team developed a novel custom NGS panel for metastatic breast cancer cfDNA, covering 16 gene mutations and amplifications. Their research found significant mutations in cfDNA, highlighting the potential for genetic profiling to anticipate treatment resistance and guide therapy.
As technology advances, the goal is to make liquid biopsies universally available, low-cost, and non-invasive. Researchers like Page remain committed to ensuring genetic profiling methods are reliable and accessible, advocating for wider patient access.
Throughout her career, Dr. Page’s passion for improving cancer treatment has never waned. The future of liquid biopsy may include integrating other biomarkers like circulating RNAs and extracellular vesicles for early detection. Page’s dedication to advancing cancer research continues to drive her work, aiming to enhance patient outcomes and reduce the need for invasive procedures.
The progress in liquid biopsy research holds promise for transforming cancer diagnosis and treatment, offering hope for earlier detection and better patient care.
EDX Medical Group Plc (AQSE:EDX) is a global specialist in digital clinical diagnostics; developing and supporting high-performance products and services to provide cost-effective prediction of disease risk, inform clinical decision-making, enable personalised healthcare and accelerate the development of new medicines for cancer, neurology, heart disease and infectious diseases. EDX Medical Group entered into a collaborative agreement with Thermo Fisher Scientific EMEA Ltd, a world leader in supplying life sciences solutions and services.
