The early detection of disease is crucial for improving patient outcomes and reducing the burden on healthcare systems. Cell-free DNA (cfDNA) has been identified as a highly significant biomarker for early disease development, particularly in oncology and genetic disorders. However, current diagnostic technologies are inadequate for detecting cfDNA and other low-concentration nucleic acids in a manner that is both cost-effective and accessible for widespread screening.
At present, the only viable method for detecting cfDNA is next-generation sequencing (NGS), a highly specialised and resource-intensive process. NGS-based diagnostics are prohibitively expensive, costing between £7,000–£10,000 per patient, with turnaround times of 4–6 weeks. Furthermore, these tests require highly skilled personnel and sophisticated laboratory infrastructure, making them unsuitable for routine screening, particularly in primary care or low-resource settings. While polymerase chain reaction (PCR) is a widely used molecular technique, it lacks the sensitivity to reliably detect nucleic acids at the ultra-low concentrations found in early-stage disease. As a result, no alternative diagnostic technology currently exists outside of sequencing-based approaches.
This technological gap extends beyond oncology, impacting the diagnosis of numerous genetic conditions, including Duchenne muscular dystrophy, cystic fibrosis, and other rare genetic disorders, all of which rely on sequencing for detection. The reliance on expensive, slow, and labour-intensive methods places immense strain on healthcare systems, leading to delayed diagnoses, increased treatment costs, and a continued reliance on expensive late-stage interventions. In oncology, where early-stage cancers are highly treatable, the lack of an accessible and affordable screening method results in missed opportunities for early intervention. This contributes to higher mortality rates and greater financial strain on healthcare services due to the increased need for intensive treatments and palliative care.
To address the limitations of current diagnostic technologies, we are developing a point-of-care biosensor capable of detecting ultra-low levels of nucleic acids with high sensitivity and specificity. This innovative platform integrates nucleic acid amplification with electrochemical detection, enabling the rapid and cost-effective identification of disease-associated genetic markers. By leveraging electrochemical techniques, the system provides a highly sensitive readout, eliminating the need for expensive and labour-intensive sequencing. The combination of targeted amplification and electrochemical signal transduction ensures a level of accuracy comparable to gold-standard methods while significantly reducing cost, complexity, and turnaround time. Designed for ease of use in clinical and primary care settings, this biosensor has the potential to revolutionise early disease detection, making high-precision diagnostics accessible at the point of need.