Recipient organisationWellcome Sanger InstituteSource-published name: Wellcome Trust Sanger Institute
Funding£1.7M
PeriodJun 2010 — Dec 2017
In plain English
AI plain-English summary
A single cancer patient’s blood sample can reveal as few as one to five copies of a tumour’s genome, using the cancer’s own unique DNA rearrangements as a beacon. This matters because current biomarkers for tracking cancer—such as protein levels or imaging scans—are often not sensitive enough to detect tiny amounts of residual disease, and they can produce false positives. The research fills a gap by turning each patient’s tumour-specific genetic changes into a custom, highly precise blood test. Because every cancer carries mutations, the approach could work for any solid tumour that is biopsied or surgically removed. If successful, the impact would be felt directly in NHS molecular pathology labs. Once a patient’s personalised assay is developed—a process that could be centralised or commercialised—running it on serial blood samples becomes cheap and routine. This would allow clinicians to tailor the intensity and duration of therapy, predict relapse before symptoms appear, and give accurate prognostic information. The technology does not require exotic equipment; most NHS labs already have the PCR capability to implement it in real time.
View original technical description
Individualised health-care is a major goal for cancer therapeutics in the next 5-10 years. Numerous advances are required to attain this objective, including the development of sensitive and specific biomarkers for measuring disease burden. Since mutation drives cancer, all malignancies carry tumour-specific genetic changes. As tumour cells die, they release fragments of their genome into the circulation. We propose to use advances in sequencing technology to identify tumour-specific genomic rearrangements found in a given patient's cancer, and develop highly sensitive and specific PCR-based assays for quantification of tumour DNA circulating in plasma. This approach will have considerable advantages over many existing biomarkers for several reasons. Firstly, it would be capable of detecting as few as 1-5 copies of the tumour genome in many millilitres of plasma with minimal risk of false positives. Secondly, this concept is in theory applicable to every tumour type in which cancers are either biopsied or surgically resected. Thirdly, once assays are developed for each patient (a process that could be centralised or commercialised), their implementation is well within the reach of most molecular pathology laboratories in the NHS, and can be done in real-time across many serial samples for minimal cost. The ability to sensitively and accurately quantify disease burden in any patient with a solid tumour would potentially lead to many healthcare advances, including personalising the intensity and duration of therapy, predicting impending relapse and providing accurate prognostic information.
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