Trial Information

Feasibility Study for Performance of Septin 9 in Plasma From Cases With Colorectal Cancer and Controls With Non-Diseased, Non-Colorectal Disease and Non-Colorectal Cancers

From public health as well as health economics perspectives, the poor adoption of current
screening options limits the effectiveness of CRC screening initiatives; as stated by Sidney
Winawer, MD, "the best test is the one that gets done." Current CRC screening guidelines
include FOBT, sigmoidoscopy (alone or with FOBT), or colonoscopy. Non-invasive screening is
conducted using FOBT, which while inexpensive, exhibits a low compliance rate (around 16% in
the US) due to its use restrictions, perceived inconvenience and lack of consumer
acceptance. The gold standard procedure for CRC detection is colonoscopy; it exhibits
excellent performance characteristics, but has a limited utility as a first line screen due
to its high cost, healthcare delivery resource limitations, and inadequate patient
acceptance. It is believed a noninvasive, first-line screening assay capable of detecting
individuals with colorectal disease, confirmed by colonoscopy, would have greater utility
for population screening.

Epigenomics has identified methylated gene regions that are specific for colorectal cancer
or pre-malignant tissue. Aberrantly methylated genes represent attractive candidate markers
for cancer screening, as cancer-specific methylation changes occur early in tumorigenesis,
appear to be stable, yield a positive amplifiable signal, and can be assayed with high
analytical sensitivity. Since methylation occurs early and in distinct genomic areas, it is
possible to achieve high clinical sensitivity with a small number of methylated DNA markers.
Studies have shown that aberrantly methylated DNA markers can be detected in tissue and
body fluids and are highly correlated to colorectal cancer.