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PointMan™ Enriches Low-level DNA Mutations from Whole Blood

Published: Wednesday, January 22, 2014
Last Updated: Wednesday, January 22, 2014
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Ultra-sensitive PointMan™ enables blood sampling instead of tissue biopsies for cancer patient mutation status assessment.

EKF Diagnostics has announced a major breakthrough for its PointMan™ DNA enrichment technology for potential use in future cancer testing and treatment.

The first successful results of a collaboration between EKF Molecular Diagnostics and the Institute of Life Sciences at Swansea University have demonstrated the detection of gene mutations in blood from samples archived in the Wales Cancer Bank.

The Company's PointMan™ technology was used to analyze the whole blood of cancer patients diagnosed with metastatic melanoma (skin cancer that has spread) 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 laboratory standard method to prepare all 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.

Dr Ricardo Del Sol, Senior Lecturer, ILS Swansea University, commented: "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."

Julian Baines, CEO of EKF, commented: "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."

EKF Molecular's portfolio of PointMan DNA enrichment products include; BRAF, KRAS, EGFR, NRAS and JAK2. 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, whilst suppressing amplification of the wild-type.

The resulting sample is effectively enriched for the mutation, thereby having the potential to offer industry leading sensitivity in a wide variety of sample types, including whole blood. This is demonstrated in the ILS Swansea study.

Julian Baines added: “This achievement is in line with the Company's vision to change current DNA extraction and detection practices and address the fast growing companion diagnostics market. 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.”


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