Non-invasive colorectal cancer screening test

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VIB and DNAlytics are proud to announce their partnership to develop a data-driven, high-performance and non-invasive Colorectal Cancer screening test, the ColonoKit. Colorectal cancer is the third most common form of cancer globally and the second most common cause of cancer deaths. The chance of a cure is high if the cancer is detected early enough, but early detection is not a given. Based on a research program from VIB, KU Leuven and UZ Leuven, with the support of the Fournier Majoie Foundation, DNAlytics will develop the ColonoKit which should make it possible to detect colorectal cancer in an early stage using a simple blood test.

Colorectal cancer: a growing medical problem

In 2012, a total of 1.4 million people worldwide were diagnosed with colorectal cancer, this figure is expected to increase to 2.4 million by 2035. This is a condition that affects a growing number of people each year. Colorectal cancer is very treatable if it is detected at an early stage, with approximately 95 % chance of a cure. If detected at a late stage, the chance of surviving 5 years after diagnosis is less than 10 %. Therefore, it is very important to be able to detect the disease in an early stage. And therein lies the rub.

Need for better tests

There are no global screening guidelines, but because early detection is so important, there are a number of national initiatives to screen the population. For example, in Belgium, the population group between the ages of 50 and 74 years is invited to undergo testing via the “immunological Fecal Occult Blood test” (iFOB), which detects blood in the stools. Even though the iFOB test is most widely used, diagnostic performance is suboptimal. In other words the available test detects only about two thirds of all colon cancers. More importantly, the test has about 90% false positive results, meaning that a lot of people are stressed unnecessarily.

Hans Prenen, professor at UZ Leuven: “From my daily practice I experience the need for a test that offers greater certainty and that can detect bowel cancer at an early stage and at the same time reaches the whole population. It fills me with joy that via our research we can actually contribute to such a test.”

A novel test by implementing scientific insights in a performant diagnostic platform

DNAlytics will now develop ColonoKit making use of an online software platform derived from their currently marketed RheumaKit, for arthritis patients’ management. The platform complements the transcriptomic inputs of the test with a Machine Learning approach, offering the perspective of a continuously-improving test, based on a routine feedback loop.

Thibault Helleputte, CEO of DNAlytics: “We will develop the Colonokit based on the research of Massimiliano Mazzone (VIB-KU Leuven) and Hans Prenen (UZ Leuven). With this test we strike several birds with one blow. It has a higher performance than the current available tests, and since it is a blood test it might lower the reluctance seen in patients towards the stool test.”

Massimiliano Mazzone, professor at VIB-KU Leuven: “I have been working on the role of the immune system in cancer for more than 10 years now. A puzzling field with a lot of potential towards clinical application. It is great that our works now forms the basis of a novel diagnostic kit with clear advantages for the patients.”

This program was also supported by the Fournier Majoie foundation. Bernard Majoie PhD, President and Founder: “Back in 2010 the pioneering proposal of prof Massimiliano Mazzone about identifying cancer bio-markers out of monocytes was enthusiastically received by FFM’s jury. 7 years later a “signature” has been confirmed and we are proud about our contribution to this achievement answering a real and urgent medical need. We consider our task is not at its end, there are still regulatory and late development issues to endeavor before the kit can be at practitioner’s hands, the FFM will be happy to help the young company DNAlytics to win this part of the course.“

ColonoKit: diagnostics based on biomarkers

If we are affected by cancer, our immune system responds to this and tries to remove the cancer cells from our body. A specific role in this process is assigned to a specific type of white blood cell: the peripheral blood monocyte. From the moment that colorectal cancer cells are present in the body, the peripheral blood monocytes respond to the substances secreted by the cancer cells. The researchers from VIB, KU Leuven and UZ Leuven identified 23 genes with a specific role in this process that could be used as set of bio-markers. These bio-markers are incorporated in the test.

Clinical Evidence

In total, about 550 samples have been prospectively collected for this project so far. In a first step, the gene signature has been identified on about 100 individuals (healthy volunteers and CRC patients), followed by a second round including 200 samples (among which half from healthy volunteers and half from CRC patients). In a third step, about 150 samples have been used for the validation of the same approach in a technological setting fitting routine requirements.

Sensitivity and specificity of the test were both above 90% in a validation cohort. Therefore, introducing ColonoKit in the screening campaign as a confirmatory step before colonoscopy could result in a decrease of up to 50% in the number of useless or non-urgent colonoscopies.  ColonoKit is likely to be more expensive than stool tests, but will still represent only a fraction of the cost of a colonoscopy. Extra clinical validation is ongoing.

Mazzone has been recently awarded with a Proof of Concept grant from the European Research Council (ERC) to further develop the kit in close collaboration with Prenen,.an important incentive and recognition. Apart from that this research was possible thanks to funding by FWO, Stichting Tegen Kanker, Kom op Tegen Kanker.

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