The Liquid Biopsy
This new technique is revolutionizing cancer diagnosis and treatment. The term derives from the use of various body fluids (e.g. plasma from a simple blood sample) to test for circulating mutated DNA from a cancer, rather than using actual tissue biopsies. MutantDx holds substantial advantages over competing technologies in Liquid Biopsy testing.
There are two major applications of the Liquid Biopsy:
- Cancer screening in perfectly well people – as this implies regular testing of every adult, this will be a massive market estimated to be ~$40B annually in the very near future.
- Monitoring for recurrence – estimated to be ~$5-10B annually
The target adult US population for regular cancer screening is about 100 million, presenting a huge business opportunity.
The targets for Liquid Biopsy screening would be a panel of DNA mutations known to have actionable targeted chemotherapy. As new mutations become characterized and new drugs are developed for them, those targets shall be added to the MutantDx screening panel.
However, as the concentration of DNA cancer markers in the Liquid Biopsy from an asymptomatic population is likely to be extremely low, successful detection will require an exquisitely sensitive technology with an extremely low limit of detection (LLOD). The proven ability of MutantDx platform technologies to accurately detect and verify extremely low concentrations of cancer markers with ASMS, PrimaCap and RepSeqID technologies gives an enormous competitive advantage over potential competitors.
We have demonstrated the ability to detect and verify the following mutations in The Liquid Biopsy:
- Melanoma (skin cancer) – Braf p.V600E/K
- Lung cancer – EGFR T790M
- Prostate cancer – ARV7
Monitoring for Recurrence
There are ~10 million cancer patients in USA needing periodic testing to evaluate whether there has been recurrence of cancer, and also to detect the possible appearance of additional known DNA mutations for which targeted therapy is available.
The Liquid Biopsy is already being used to detect fragments of cell free tumor DNA in the blood carrying actionable cancer markers, but existing methods of detection fall short of the sensitivity and specificity expected for clinical use.
Cancer cells are constantly dying, and their liberated DNA enters the blood stream where it is quickly broken down into minute fragments of DNA with two distinct sizes: ~ 140bp and 35bp. The cancer mutations can be located anywhere along the length of the DNA fragments, and be present at extremely low concentrations.
MutantDx uses its patented PrimaCap technology to detect tumor mutations in DNA fragments of all sizes, irrespective of their location, and at femtogram concentration. This is an unmatched capability.
Essential Attributes for the Liquid Biopsy
- The result must be extremely accurate
- Quality assurance must virtually eliminate false positive or false negative results
- The test must be able to detect the incredibly low concentration of the target DNA mutations in femtogram quantities (there are 1,000 trillion femtograms in one gram!) in all fragment sizes and at any location on the fragment
- The test panel must be versatile and include all the known cancer mutations for which targeted therapy is available.
- The technologies must be able to identify patients with the specific splice variants for the intended drug
- The technology should be relatively resistant to DNA degradation between collection and testing
- The test must be reimbursable by health insurance companies
- The testing instrumentation must be automated, widely available and robust