Nucleic acid-based biomarkers are integral to precision medicine, acting as indicators for a range of biological states, from disease predisposition to therapeutic effectiveness. Their application in numerous diseases necessitates thorough studies to identify them, comprehend their functional significance, and validate their clinical utility.
In cancer, genetic biomarkers are used to diagnose and monitor the disease by identifying chromosomal abnormalities, genetic variants, and epigenetic changes. While tumour tissue remains the primary sample type for cancer biomarker analysis, non-invasive liquid biopsies from blood, urine, stool, saliva, buccal swabs, cerebrospinal fluid (CNF), and other body fluids are increasingly utilised. The FDA has approved various genetic biomarker tests from both liquid and tissue biopsies for different cancer types to guide treatment decisions.
Similarly, significant advancements have been made in discovering and validating biomarkers for neurodegenerative diseases. The range of biomarker sources has expanded from tissue biopsies to include blood and CNF, while the types of biomarkers have grown to encompass imaging, genetic variants, gene expression signatures, methylated DNA, and miRNAs. This evolution reflects the progress in diagnostic and monitoring tools for neurological conditions.
However, detecting biomarkers, especially those at low abundance, presents numerous challenges. High sensitivity and specificity are required, yet biological samples often contain many molecules, with target biomarkers sometimes present in extremely low quantities. For instance, circulating tumour DNA (ctDNA) in cell-free DNA (cfDNA) can be as low as 0.01%, necessitating highly sensitive and specific detection methods. Additionally, biomarker concentration can vary significantly between individuals and within the same individual over time. Biomarkers may also degrade or change molecular form during processing or storage, complicating detection and quantification.
Despite these challenges, advances in analytical technologies for nucleic acid biomarkers hold promise. Applied Biosystems™ technologies support a continuum of research, from discovery to targeted detection of relevant mutations. For biomarker discovery, Ion AmpliSeq™ next-generation sequencing (NGS) workflows and Clariom™ and Axiom™ microarray solutions facilitate comprehensive genome-wide queries to identify new sequences or gene relationships. Once sequences of interest are identified, medium-throughput analyses, such as Sanger sequencing for defined regions or TaqMan™ panels on array cards for gene set analysis, can be employed.
For situations requiring higher precision and sensitivity, like identifying ultra-rare mutations in cancer research samples or analysing ctDNA in liquid biopsies, the QuantStudio™ Absolute Q Digital PCR System is ideal. This system uses TaqMan assays in a one-step workflow, offering the ease of qPCR with enhanced precision. This suite of technologies supports a seamless transition from broad exploration to pinpointed analysis, facilitating the identification and verification of critical biomarkers.
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.
