A team of Australian scientists has identified new genes that show identifiable changes in the blood of people with bowel cancer.
The discovery has the potential to underpin a new cost-effective blood test that would signal the early stages of bowel cancer. This test could potentially save thousands of lives by supplementing existing screening programs and encouraging those at risk to have a colonoscopy.
The research presented today is the result of over five years of scientific collaboration between Australian biotechnology company Clinical Genomics, CSIRO and the Flinders Centre for Innovation in Cancer at Flinders University in Adelaide, lead by senior investigator Professor Graeme Young.
A new blood test for bowel cancer based on these discoveries is now under development and is currently being tested with patients from Australia, the United States and Europe. The Australian research team is hoping to attract interest from other clinicians and scientists around the world to help them further validate the new test.
Dr Lawrence LaPointe, CEO of Clinical Genomics, said they have shown a high detection rate for bowel cancer while also demonstrating a false positive rate of about 5% in samples drawn from a high-risk population.
"These clinical trial results are highly promising but we need to go one step at a time. The next step is to seek help from other groups and researchers to cast the net more broadly to see what we can achieve with a larger number of tests drawn from a sample of the general population," Dr LaPointe said.
"There is still some time to go before a blood based test of this nature might be broadly available to a community but the technology is clearly worthy of broader, rigorous testing. Importantly, a simple blood test like this could significantly improve patient participation with bowel cancer screening programs."
Dr Peter Molloy, from CSIRO's Preventative Health Flagship, said, "These exciting results are the product of a close alignment of clinical research with advanced genomics, epigenetics and biological statistics viewed through the lenses of clinical need and commercial focus".
"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 per cent 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" Dr Molloy said.
Senior investigator, Professor Graeme Young, from the Flinders Centre for Innovation in Cancer at Flinders University in Adelaide, said the prevention of bowel cancer is a major public health priority in Australia and early detection is clearly the path to better outcomes in the future. "One of the key questions is how a test like this might complement existing screening efforts in a cost-effective way to save even more lives in the future. The breakthrough data presented today is the result of exciting multidisciplinary research between industry, Australia's national science agency and clinical researchers from one of the nation's leading teaching hospitals.
"The need now is to collaborate more broadly with national and international researchers committed to translation of science innovation to clinical outcomes, to help validate these exciting findings in large scale prospective studies," Young said.
Discovery and validation of a novel DNA methylation biomarker for colorectal cancer with application to blood testing. Pederson, Molloy, Baker, McEvoy, Thomas, Murray, Dunne, Lockett, Mitchell, Ho, Ross, Brown, Duessing, Saunders, Buckley, Drew, Young and LaPointe. Presented at Digestive Diseases Week, 20th May 2012.