Classic testing for bowel cancer involves a fecal sample--not much fun for the patient or for the lab staff. A study from Australian scientists, presented at Digestive Disease Week 2012, has looked at DNA methylation as a possible colorectal cancer blood test and a more straightforward and user-friendly route to diagnosis.
The presence of methyl groups on the DNA, an epigenetic change, can be a sign of disease. A team of researchers from Clinical Genomics, an Australian company focusing on the early detection of cancer, along with Australia's Flinders University and the Commonwealth Scientific and Industrial Research Organization (CSIRO), Australia's national science agency, tracked down groups of known and new methylated DNA biomarkers.
"One new gene identified was particularly sensitive to cancer. This gene is called 'colon adenocarcinoma hypermethylated' or CAHM. In 120 blood samples we observed a high positivity for cancers (68%) while still being accurate in 97% of normal patients. We have also shown that a three gene test including CAHM was able to detect cancer 76% of the time with a 93% accuracy in normal patients," said Dr. Peter Molloy of CSIRO's Preventative Health Flagship.
As a next step, this test is being validated in patients in Australia, the United States and Europe, and could be useful as an add-on to existing screening programs, as well as a way of encouraging people to come forward for colonoscopies.
- read the press release