DNA-Enrichment Technology May Help Replace Biopsies for Cancer Mutation Testing

An ultra-sensitive RT-PCR approach using breakthrough DNA-enrichment technology has now enabled low-level DNA mutations in cancer patients to be detected from whole blood samples.

A breakthrough achievement with the DNA-enrichment technology used in "PointMan" from EKF Diagnostics (Cardiff, UK) paves the way for its potential use in cancer patient testing, monitoring, and treatment by enabling blood sampling instead of tissue biopsies for assessment of cancer gene-mutation status. The first successful results of collaboration between EKF Diagnostics and the Institute of Life Sciences (ILS) at Swansea University have demonstrated the detection of gene mutations in blood from samples archived in the Wales Cancer Bank. EKF's PointMan technology was used to analyze the whole blood of skin cancer patients diagnosed with metastatic melanoma, enabling the identification of gene mutations associated with response to drug treatment.


Crucially, the results observed for mutations in the gene BRAF were consistent with the formalin fixed paraffin embedded (FFPE) tissue samples; FFPE being the standard method to prepare biopsy samples for pathology review in order to diagnose the cancer. These results have been confirmed by DNA sequencing, which had failed to identify the mutations prior to sample enrichment through EKF’s PointMan technology.

PointMan is a real-time PCR technology that provides reliable and extremely sensitive detection for cancer mutations. It is highly efficient in amplifying the target sequence of interest, while suppressing amplification of the wild type. The resulting sample is effectively enriched for the mutation, thereby having the potential to offer high sensitivity in a wide variety of sample types, including whole blood. This is demonstrated in the ILS Swansea study.

"This is a major step forward not just for the company but also for the future testing of cancer patients, where we hope that less-invasive testing will become routine using our PointMan technology. We are looking forward to continuing to work with ILS Swansea to continue to build the evidence base. Further evidence will be generated from other collaborations and I look forward to providing further updates during 2014," said Julian Baines, CEO of EKF.

“Current collaborations focus on the unmet requirements for patient monitoring from a peripheral sample, thereby negating the requirement for a surgical procedure to obtain a tissue biopsy, and screening for early cancer diagnosis.” Dr. Ricardo Del Sol, Senior Lecturer, ILS Swansea University, added. "These results are a clear indication of the potential for PointMan to enable the use of a blood sample to assess the mutation status of cancer patients. We look forward to continuing this important work with EKF Molecular to validate our findings."

EKF's portfolio of PointMan DNA enrichment products include the genes for: BRAF, KRAS, EGFR, NRAS, and JAK2.

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