Epigenomics AG launches the world’s first in vitro diagnostic blood test for early detection of colorectal cancer.

Epi proColon is an innovative molecular diagnostic test that can detect tumor derived methylated DNA of the Septin9 gene (mSEPT9) in blood plasma as a reliable indicator, or biomarker, for colorectal cancer. In a performance evaluation study, the final step of Epigenomics’ IVD product development, analyzing blood samples from about 260 patients with colorectal cancer or without any evidence of colorectal cancer, the Epi proColon test detected two thirds of the cancer cases in early, still localized disease stages. When colorectal cancer is still localized, ie has not spread to lymph nodes or distant organs, about 90% of the patients can be cured from the disease (90% 5-year survival rate).

Preceding the performance evaluation study and the launch of Epi proColon, Epigenomics had shown in seven clinical studies between 2005 and 2008 with a total of more than 3,000 subjects that mSEPT9 in blood plasma is a strong biomarker for the presence of colorectal cancer. In these studies mSEPT9 testing detected about 70% of the cancers across all disease stages (i.e. early as well as later stages) with about 90% specificity, results that were confirmed in the most recent performance evaluation study for the Epi proColon test.

Early detection of colorectal cancer in a simple blood draw has the potential to overcome the most challenging hurdles in colorectal screening – patient compliance.

Colorectal cancer screening in Germany is recommended by national guidelines. Under this scheme annual screening with guaiac Fecal Occult Blood Test (FOBT), a test that detects invisible blood in stool, is recommended from the age of 50 years. From 55 years and onwards an ambulant colonoscopy is recommended that should be repeated after ten years. Individuals not willing to agree to a colonoscopy are recommended to continue FOBT testing every other year. Both, guaiac FOBT and colonoscopy are reimbursed by the public healthcare scheme in Germany.

Despite these recommendations the vast majority of Germans over the age of 50 are not screened at all and as a consequence colorectal cancer is mostly detected in symptomatic later stages significantly lowering the patients’ chances of survival. Lack of convenience and reservations against invasive methods are among the reasons most often cited for this lack of compliance. Other European countries and the US that have comparable screening guidelines all face similar challenges.

A blood test for colorectal cancer early detection that can easily be integrated into an annual health check-up and does not require patient involvement is believed to be more acceptable to doctors and patients and has the potential to greatly increase the effectiveness of national screening programs by increasing overall screening compliance. If tested positive in such an easy-to-use blood test, patients would be referred to a gastroenterologist for colonoscopy to confirm the diagnosis and initiate early treatment.

"The big issue in colorectal cancer screening remains that far too few people make use of it. Stool tests and colonoscopy are still not sufficiently accepted by patients", explained Dr Thomas Roesch, Professor for Endoscopy at the University Medical Center Hamburg-Eppendorf. "In this situation a simple blood test makes a lot of sense as it is easy to use for the patients and quickly done. And who wouldn’t accept to undergo colonoscopy if the blood test already indicated a high risk of having colorectal cancer?"

The Epi proColon blood test does not only have the chance to gain better acceptance in the target group for colorectal cancer screening. With a cancer detection rate of about 70% it also significantly outperforms guaiac FOBTs, that are the currently most widely used stool tests used for screening but only find 30-40% of the cancer cases.

Epi proColon is the first CE-marked in vitro diagnostics product that Epigenomics markets directly to molecular diagnostic laboratories in Europe. Septin9 testing is currently being offered by selected innovative early adopter laboratories including Viollier AG in Switzerland and the German laboratories Krone, Limbach, MVZ Dr. Stein, and MVZ Dr. Eberhard & Partner. These labs have established and validated laboratory developed tests for the mSEPT9 biomarker. With the availability of Epi proColon that has been fully validated and CE-marked by Epigenomics as an aid in the detection of colorectal cancer, Septin9 testing can now be implemented in a much broader range of clinical laboratories with molecular diagnostics capabilities across Europe.

Epigenomics aims at serving the home market in Germany, Austria and Switzerland through direct marketing and sales, while initially commercializing through distributors in other European markets.

"With the launch of Epi proColon we follow the request by our customers to offer a CE-marked version of our Septin9 test that can easily be implemented and takes away the burden of validation from the laboratory ", explained Geert Nygaard, Chief Executive Officer of Epigenomics. "It also marks a great leap forward in the execution of our commercial strategy to become a leading molecular diagnostics company. With Epi proColon we are the world’s first company offering a regulated IVD product for the early detection of colorectal cancer using a simple blood draw. This test has the potential to be used for population-wide colorectal cancer screening. With several hundred million people world-wide being eligible for colorectal cancer screening, our test has the potential to save many lives and at the same time addresses one of the most attractive future markets in molecular diagnostics."

To ensure the broadest possible availability of blood-based colorectal cancer early detection, Epigenomics also pursues a non-exclusive licensing strategy and is working with partners in the diagnostics industry, including Abbott Molecular, Chicago, IL, U.S.A. and Quest Diagnostics, Giralda Farms, NJ, U.S.A., that are expected to start offering their Septin9 tests in Europe and the U.S.A., respectively, in the fourth quarter of 2009. Further partners include ARUP Laboratories, Salt Lake City, Utah, and Sysmex Corporation, Kobe, Japan.

"With the decision for direct commercialization of Epi proColon in addition to our partnering strategy, Epigenomics will take a much more active role in building the colorectal cancer blood testing market. We intend to leverage the know-how we have gathered in colorectal cancer screening over the years as we developed the test with some of the most influential opinion leaders in the field", Nygaard explained Epigenomics’ strategic move. "However, we continue to be fully committed to our non-exclusive partnering strategy for mSEPT9 and strongly believe in the synergies created by several diagnostics players advocating colorectal cancer blood testing as an alternative to current stool tests for screening and offering the test on multiple diagnostic platforms. To this end we will continue to support our current and future partners in their development and commercialization efforts for colorectal cancer blood tests based on mSEPT9 to the extent permitted and possible."

Source: Epigenomics AG