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Dx Focus: Trovagene Offers BRAF V600E Test; Epigenomics, Polymedco to Market CRC Screening Test

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Trovagene this week announced that its CLIA laboratory is now offering a test for the detection of the BRAF V600E mutations in cell-free DNA in urine.

This is the first urine-based test for cancer mutation monitoring, Trovagene said. The BRAF V600E mutation commonly occurs in melanoma and several other prevalent cancer types.

Of the more than 70,000 cases of melanoma diagnosed each year in the United States, up to 70 percent harbor a BRAF-type mutation and of these, 80 percent may be positive specifically for BRAF V600E. Several FDA-approved targeted therapies for the treatment of BRAF-positive melanoma exist, making mutational status monitoring an area of clinical interest among treating physicians.

Trovagene's assay is a laboratory-developed test designed to detect and monitor this mutation in metastatic cancer patients with biopsy-proven V600E BRAF mutations in their tumor. It is the first commercial assay within Trovagene's cancer monitoring portfolio performed using a droplet digital PCR platform. In August, PCR Insider reported that Trovagene had moved its assay to the RainDance Technologies RainDrop Digital PCR system (PCR Insider, 8/1/2013).

Using urine as a non-invasive, systemic sample, the cell-free BRAF test could help physicians monitor changes in mutation status for patients requiring therapy for cancers that have this mutation. For patients with difficult-to-biopsy metastatic tumors, urine-based mutation testing may also provide a viable alternative to check mutation status as part of the initial treatment workup, the company said.


Epigenomics said this week that it has entered into a joint commercialization agreement with Polymedco to jointly commercialize Epi proColon, Epigenomics' blood-based test for colorectal cancer screening, in North America.

Under the terms of the agreement, Polymedco will provide a dedicated sales force and technical support staff, administration, logistics, and other support functions to help market Epi proColon once it is potentially approved by the US Food and Drug Administration.

Both parties will work on marketing, launch, and development strategies and will collaborate with key payers to obtain favorable reimbursement coverage. Epigenomics will be responsible for manufacturing the product and supporting it from the medical and regulatory point of view, including activities necessary to achieve inclusion in major cancer screening guidelines post-approval.

The companies agreed to a combined transfer price and profit sharing agreement subject to minimum annual sales of test kits from Epigenomics to Polymedco.

Epi proColon uses duplex real-time PCR to detect tumor-derived aberrantly methylated DNA of the v2 region of the Septin 9 gene in blood plasma. Cytosine residues in the v2 region of the Septin 9 gene are specifically methylated in colorectal cancer tissue but not in normal colon mucosa 2. This tumor-specific methylation pattern can be used to amplify specifically cell-free DNA shed into the blood stream by tumor cells. Detection of colorectal cancer-derived DNA in blood plasma using the Septin 9 methylation biomarker has been demonstrated in multiple case control studies with colorectal cancer patients and colonoscopy-verified negative controls to be a reliable indicator of the presence of colorectal cancer 3, Epigenomics said.

Polymedco is the largest provider of colorectal cancer screening tests in North America, with more than $50 million in annual sales for its cancer diagnostics products and an established customer base of more than 1,500 laboratories.

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