Cancer begins when a normal cell’s DNA mutates; the cell multiples over and over, or too often, and from that point on, a mass or tumour of abnormal cells can form.
As with all cells, a proportion of the cancerous cells inevitably die and shed genetic material (ctDNA) into the bloodstream. These mix with larger amounts of circulating free DNA (cfDNA) fragments coming from the death of normal, non-cancerous cells.
Rapid advances in genomic technologies mean that the insights gained from this simple act could be signalling a new dawn for cancer diagnostics.
Research is increasingly showing that a blood sample (also known as liquid biopsy testing) can not only reveal the presence of disease-causing mutations in circulating tumour DNA (ctDNA), but allow for the possibility of real-time ctDNA-directed treatment.
The blood test enables these fragments to be searched for. If present, they can then be examined, to identify any genetic faults in tumour cells, enabling the status of the tumour to be identified earlier, and more accurately, as well as supporting the identification of effective medications and interventions.
The ctDNA project will provide evidence for the feasibility of a nationally commissioned ctDNA testing pathway, including the healthcare economics case.
To learn more about this project, please watch our recent Genomics Roadshow in Manchester (April 2023), where George Burghel presented on the ctDNA project.