What information do we get from the DNA sample?
The Human Genome Project was launched in 1990. It took 13 years and US$3 billion to complete mapping out the billions of DNA bases that make up a full set of a person’s genes and everything in between. That is a long time to wait and a huge price to pay for just one genome. The Human Genome Project led to technological advances that found better, faster and cheaper ways of getting the job done. Today, analysing an entire human genome costs less than $US 5,000 and only takes a day or two.
Genomic technologies are changing rapidly and there are likely to be a range of analyses undertaken using the genetic data available in the ABC Study. One of the analyses that can be done is a genome-wide association study: DNA is extracted and selected locations on the genome are scanned (usually around 500,000 out of the ~3 billion DNA bases). These locations host common genetic variants that make us unique individuals, much like the variants that influence our height or hair colour. Cancer Council Victoria researchers will use these genetic data to search for new variants associated with cancer risk.
When we compare the DNA scan results for people who do develop a certain type of cancer to those from people who don’t, we look for patterns: Do any genetic variants crop up more often in people with cancer? That way, we can identify ‘suspect’ variants that could be influencing the risk of cancer. In the last few years, participants’ data from previous CCV studies (such as Health 2020) have been used to successfully identify genetic markers associated with prostate, breast, bowel, ovary and many other cancers.
Any single common genetic variant does not make much of a difference to a person’s chance of getting cancer but, collectively, the small risks associated with a large number of these variants can add up to something substantial.
Our researchers usually work in international collaborations, often combining results drawn from hundreds of thousands of participants. This is because the wider the net we cast – looking at data from as many people as we can, from varied populations – the better our chances of detecting the small risks we search for.
Our ultimate goal is to develop models based on this genetic information that would give a person an indication of whether they are in the low-, mid- or high-risk category for a type of cancer. This information could inform their prevention and screening decisions, and in the future may lead to more effective treatments.
To maintain the privacy of our participants, data are always shared with identifying information removed, so that collaborating researchers cannot access personally identifying information.
Do you have a question? Check out the FAQs page on the ABC Study website or contact the ABC Study Team - we are here to help.