Preliminary results from a collaboration between EKF Molecular Diagnostics and researchers at Swansea University in Wales have demonstrated that EKF's PointMan DNA enrichment technology may enhance detection of blood biomarkers in metastatic melanoma.
According to EKF Molecular Diagnostics, the molecular testing subsidiary of UK-based EKF Diagnostics, researchers in the lab of Ricardo Del Sol at Swansea University's Institute of Life Science successfully correlated BRAF gene mutations in whole blood with formalin-fixed paraffin-embedded biopsies from metastatic melanoma patients. The results were then confirmed by DNA sequencing, which had failed to identify the mutations prior to sample enrichment with PointMan, the company said.
The work, which has not yet been published, was carried out using samples from the Wales Cancer Bank, EKF said. These consisted of paired blood and FFPE samples for each patient. In an email to PCR Insider, Andrew Webb, CEO of EKF Molecular Diagnostics, wrote that "the samples from the Wales Cancer Bank include not only melanoma, but also non-small cell lung and colorectal cancers. So, this is an initial data set from a much broader project."
Webb said Del Sol and his team will publish the PointMan results once the project is complete.
The company currently markets seven research-use-only kits to selectively enrich cancer-related mutations, including BRAF, JAK2, and NRAS, as well as two each for different KRAS and EGFR mutations.
According to Webb, "the PointMan technology enriches the DNA sample for the point mutated sequence by promoting amplification of the mutant of interest whilst suppressing amplification of the wild-type." In addition, he wrote that "the method is not allele-specific and will amplify any/all variants in the target sequence. This means we can help identify a particular mutation in a single tube thereby conserving valuable sample."
Webb also noted that the technology is "extremely effective on low-level mutations where other technologies such as DNA sequencing may often fail."
EKF's website further explained that the technology uses "a simple reagent set that combines with standard DNA extracts and runs on a real-time thermocycler platform." It also claimed that "the product of the PointMan enrichment assay can then be used in combination with standard detection methodologies such as PCR, pyrosequencing, and Sanger sequencing."
Webb noted that these results are "an important step for us in our ambitions not only to improve testing at diagnosis but, importantly, to open up the opportunity for patient monitoring as well as screening for early diagnosis." The study follows on the heels of the company's expansion last year into the companion diagnostic market. This included acquiring 360 Genomics, which developed the PointMan technology, for up to £9.6 million ($14.5 million) in order to establish the EKF Molecular Diagnostics subsidiary with Webb, a former head of personalized healthcare global market development at Qiagen, as CEO.