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Diagnostics Genetics and epigenetics, Liquid biopsy, Oncology, Precision medicine, Screening and monitoring, Technology and innovation

Thinking Outside the (Genome) Box

At a Glance

  • Access to accurate and effective cancer diagnostic technologies is variable, leading to delays in detection and treatment and poor clinical outcomes
  • Conventional diagnostics are costly, invasive, and time-consuming, often requiring complex specialist procedures or hospitalization
  • Epigenetic biomarkers are highly specific for disease state and tissue type and can be detected upstream of genetic alterations
  • By combining minimally invasive sampling techniques with the precision and sensitivity of epigenetic analysis, we can detect cancer early and begin timely therapeutic intervention

Across the globe, cancer causes one in every six deaths. Mortality is most commonly a consequence of malignant disease of the lung, colon, stomach, liver, or breast tissue (1). Disease progression, accompanied by the metastatic spread of tumor cells to other tissues within the body, remains the primary cause of death and disability among those with cancer (2). To reduce this burden, early detection and intervention are critical. We must improve survival rates and lower morbidity – but we must do so wisely, optimizing the use of expensive specialist medicines, health resources, and procedures.

A diagnostic defecit

Conventional diagnostics are limited by suboptimal accuracy. They are also expensive to deliver, requiring specialist skills and services. Inadequate access to resources or technology and the intrusive nature of many investigative techniques (such as tissue biopsy, colonoscopy, or pleural fluid sampling) hinder disease detection and significantly impact patients’ quality of life. How can we improve upon these approaches? Minimally invasive techniques that employ highly sensitive biomarkers for early-stage disease and allow regular screening using a simple blood or saliva sample would support a simple, practical, and cost-effective approach that might be more acceptable to patients. And with increased access to testing and increased willingness to be screened, such a technique could potentially identify cancers early enough to improve the odds of treatment success. It would also facilitate ongoing monitoring during or after treatment – giving patients the best chance of having disease progression identified and halted, or receiving prompt treatment in the case of relapse.

In recent years, the rapidly evolving field of epigenetics has driven transformative advances in research regarding the fundamental biological processes controlling human development, disease, and aging. Innovations in this area have the potential to revolutionize cancer diagnostics beyond the capabilities of traditional genetic screening, delivering exceptional levels of accuracy and enabling detection ahead of symptomatic disease.

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About the Author

Jason Mellad

Jason Mellad is former Chief Executive Officer at Cambridge Epigenetix. He has recently taken on a new venture and, as of November 15, 2018, Suman Shirodkar has taken over as Chief Executive Officer of Cambridge Epigenetix Ltd., Cambridge, UK.

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