Hereditary predisposition and causative environmental exposures have long been recognised in human cancer risks. In most instances, cancer cases occur sporadically, suggesting that environmental influences are critical in determining cancer risk. Molecular diagnostics in colorectal cancer aims to use predisposition (or predictive) tests to determine the genetic susceptibility to this disease. Predictive genetic testing refers to the use of a genetic test in an asymptomatic person to create maps of individual risk and predict future risk of disease. The hope underlying such testing is that early identification of individuals at risk of a specific condition will lead to reduced morbidity and mortality through targeted screening, surveillance and prevention. Consequently, while conventional diagnostic techniques (that include radiography, tomography, etc.) tell us whether a tumour is already present, tests that identify genetic aberrations are important to indicate the probability of developing a tumor and this knowledge can help devise the best strategy to prevent the development of the tumor.
The Armedillo project will provide a predictive genetic test for the presence of colorectal cancer. Preliminary research by Dr. Paul Jenkins (Dept of Endocrinology St. Bartholomew’s Hospital and Queen Mary College) has shown that the gene expression in colons differ between individuals with and without colon cancer. The technology in use is termed microarrays or DNA chips. The hope underlying such testing is that early identification of individuals at risk of a specific condition will lead to reduced morbidity and mortality through targeted screening. A buccal (cheek) swab will deliver a simple, inexpensive, non-invasive test that will have extremely high take up rates compared to the current diagnostic tools.
The introduction of a simple DNA chip using a cheek swab would revolutionise the market. It could be made cheaply available to almost every adult in the western world. |