This is a minimally invasive test, which allows doctors to discover and evaluate a series of information about the characteristics of the tumour and the patient himself by extracting a simple blood sample, as well as specific mutations for targeted therapies.

This technology has evolved and currently, with the same method and without the need for more invasive procedures, we can evaluate circulating tumour DNA.

Circulation bound tumour DNA could potentially serve as a “liquid biopsy”, thus avoiding conventional tumour tissue biopsies. Tissue biopsies are not only hazardous for patients, but often clinically unfeasible and unable to encompass the temporal and spatial heterogeneity of the cancer cell genetic/epigenetic landscape. Liquid biopsy, on the other hand, allows for repeat blood sampling, thereby providing an insight into the evolutionary dynamics of the cancer. Moreover, as ctDNA originates from multiple tumour sites, its analysis may be able to provide a more comprehensive snapshot of intra-tumour clonal heterogeneity compared to single-site tissue biopsies.

Consequently, ctDNA serve as an important biomarker for early diagnosis of cancer, minimal residual disease monitoring as well as monitoring the response to chemotherapy, clonal evolution, and possible development of resistance.

In recent years, chip-based technologies capable of analysing plasma ctDNA without prior information about genomic characteristics of the tumour have been developed to exploit the potential of this non-invasive biomarker. These methods have the advantage of being enzyme free, highly sensitive, and low cost and requiring fewer testing times, and thus hold the potential to overcome various hurdles in ctDNA research.

Early, sensitive, and accurate diagnosis is considered sine qua non in cancer management as it can guide effective therapeutic interventions as well as substantially improve patient outcome and survival. Despite years of research, diagnosing cancer at early stages with high sensitivity and minimum risk of overdiagnosis is indeed an onerous task. The quest for more potent and credible biomarkers is still ongoing. Over the years, ctDNA analysis as a minimally invasive approach has made a remarkable contribution to this quest. Initial observations indicated that ctDNA concentration in plasma of cancer patients is substantially higher as compared to that in healthy controls as well as those with benign disease. Common analytical approaches for quantification of plasma DNA levels are spectrophotometry, colorimetric DNA quantification, use of dsDNA binding fluorescent dyes as well as quantitative polymerase chain reaction (PCR).

Among the main benefits, this diagnostic method, carried out in partnership with a North American company, allows the assessment of molecular residual disease after surgical treatment of cancer, making it possible to personalize preventive oncological treatment according to the individual risk of each patient. Furthermore, it is also possible to monitor ctDNA during patient follow-up, helping to identify the risk of relapse and thus anticipate and act quickly on metastatic disease, making it possible to analyse in real time the response to treatment or the need for adaptation.

For more information please contact HPA Saúde Group on (+351) 282 420 400.