EKF and Mass. General Collaborate to Develop Blood Tests for Cancer Patients

EKF Molecular, of EKF Diagnostics (Cardiff, UK), and Massachusetts General Hospital (MGH; Boston, MA, USA) have entered into a 2-year research collaboration to develop PointMan assays that can effectively detect treatable cancer mutations in blood samples.

The collaboration agreement follows a detailed evaluation of EKF’s PointMan DNA enrichment technology by MGH. The 2-year project will focus on lung, breast, and skin cancers, and on circulating tumor cells (CTCs), including research on utility of PointMan and of MGH’s CTC-Chip technologies for noninvasive cancer diagnosis and monitoring.


MGH will use PointMan for detection of genetic variation in CTCs isolated from patient blood using its CTC-Chip instrument. CTCs being extremely rare in whole blood, their isolation and characterization could offer clinicians a routine method to help diagnose, treat, and monitor progress of various cancers. The main difficulty in successfully analyzing CTCs has been the ability to detect low level mutations sufficiently and to create assays sensitive enough to provide meaningful data, difficulties that PointMan may be able to overcome. EKF Molecular will design and develop high sensitivity assays to be utilized by MGH with a view to validating PointMan in detection of known and novel mutations, a major step towards improvement of patient outcomes.

Andrew Webb, CEO of EKF Molecular Diagnostics Ltd, commented: “The results of an initial assessment, and now this 2-year collaboration, moves us even closer to the routine use of blood based tests for cancer rather than a tissue biopsy. The [collaboration] should make this approach to cancer detection and monitoring available, ultimately, to the majority of molecular testing laboratories.” Dr. Daniel A. Haber, director at MGH Cancer Center and professor at Harvard Medical School, commented: “We have been studying the sensitivity of DNA enrichment technology as a way to detect and monitor specific mutations in cancers from patients utilizing circulating tumor cells isolated from a simple blood sample. I am hopeful that the combination of such technology with our CTC-Chip technology will have the potential to improve the clinical management of our patients.”

The initial proof of concept data – using PointMan to detect EGFR sensitizing, as well as resistance (T790M), mutations associated with lung cancer and BRAF V600E associated with melanoma – have proved enlightening. These experiments involved spiking as few as 3–10 tumor cells harboring the appropriate mutations into white blood cells. PointMan reliably detected both T790M and V600E at a frequency of 10 mutant alleles (gene copies) in a background of 10,000 wild type (normal) alleles. Ongoing pilot studies have suggested an even more robust detection sensitivity of 3 mutant alleles in a background of 30,000 wild-type alleles.

Related Links
EKF Diagnostics 
PointMan DNA enrichment technology
Massachusetts General Hospital Cancer Center