New results using an innovative DNA mutation enrichment technology suggest the possibility of a simple blood test for various cancers.

EKF Diagnostics (Cardiff, Wales, UK) has announced that the latest results from its collaboration with the Institute of Life Sciences at the University of Swansea (UK) have continued to confirm the effectiveness of its PointMan technology for isolating and characterizing low-level DNA mutations in blood. Its sensitivity paves the way for the possibility of using a simple blood test to screen and diagnose different cancers, as well as monitor the efficacy of anticancer therapies.

Following work undertaken by the Swansea-based team earlier this year, which successfully detected circulating free DNA (cfDNA) mutations from melanoma patients using PointMan, further studies were carried out on blood samples from endometrial and lung cancer patients, archived in the Wales Cancer Bank. The latest results demonstrated the sensitivity of PointMan in detecting cfDNA mutations—BRAF (endometrial cancer) and EGFR (lung cancer). Based on the promise of these initial proof-of-concept results, EKF is now sponsoring an MSc studentship to further evaluate the use of PointMan to enrich mutant variants in cfDNA isolated from patients suffering from, or at risk of developing, gynecological cancers.

The ongoing project aims to correlate the presence and abundance of specific mutant variants of known endometrial and ovarian cancer biomarkers in cfDNA from blood samples of patients with established clinical diagnoses for these conditions. Ultimately, the results will establish whether these biomarkers provide a better diagnosis, or enhance current diagnostic tests.

The latest data from Swansea also compliment recent work undertaken using the "GILUPI CellCollector," a device for collecting circulating tumor cells (CTCs) directly from a patient’s blood stream. This highlighted the utility of a blood-based test and critically demonstrated that PointMan can even detect from only 3 mutant cells in a background of 1,000 wild type cells. A control PCR reaction was unable to achieve such sensitivity, which is important as it reflects the number of mutant cells in a typical patient sample.

Julian Baines, EKF’s CEO, commented, “This latest data-set from the Institute of Life Sciences (Swansea) and our MSc sponsorship marks a significant milestone in establishing the effectiveness of PointMan in the development of a blood test for various cancers. Having confirmed its particular sensitivity, we can now move onto the next stage of evaluation, working with greater numbers of patient samples to clearly establish a correlation between cfDNA mutation status and the development of various solid tumors.” PointMan’s extremely high sensitivity offers a unique advantage in the early detection, monitoring of disease progression, and assessing the efficacy of anticancer treatments—without the need for a tissue biopsy and related procedures. The PointMan portfolio currently includes products for: BRAF, KRAS, EGFR, NRAS, ESR1, and JAK2.

PointMan, a real-time PCR technology, is highly efficient in amplifying the target sequence of interest, while suppressing amplification of the wild-type sequence. The resulting sample is effectively enriched for the mutation, thereby having the potential to offer leading sensitivity in a wide variety of sample types, including whole blood.

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EKF Molecular Diagnostics