Although genetic tests are available, Dr Lacaze said they are expensive and the quality of the tests varies depending on the country in which they are carried out and by which laboratory.
“We are building a test that will be of the highest quality. It would be a publicly funded test that would not go overseas and would be provided by the Australian health system.
The DNA Screen team is trying to recruit “all comers” among the 10,000, not just people with a known link to hereditary cancer. Up to 90% of people at high risk are not identified by current tests based on family history.
“Trying to pick and choose who will or will not carry these genetic risk factors based on their family history or some other factor is not an effective way to find the right people,” Dr. Lacaze said.
“We hope to identify those at risk while they are young and healthy, not after the fact, and empower them to make more informed decisions about their health.
“For some people, it could save their lives through early detection and prevention of cancer and heart disease. It will also save considerable costs to the healthcare system in Australia through prevention.
DNA Screen will identify people with variants of the BRCA1 and BRCA2 genes that lead to an increased risk of hereditary breast and ovarian cancer in women. These genes are also linked to breast and prostate cancer in men, but not as strongly.
Men and women who carry variants of these genes can pass them on to their children.
The DNA screening test will also focus on Lynch syndrome, a disease that increases the risk of colorectal, endometrial and other gastrointestinal cancers.
The DNA test also covers the risk of heart disease for a genetic predisposition to hypercholesterolemia or what is called familial hypercholesterolemia. Although effective medications such as statins are available to reduce risk, an estimated 95% of FH carriers are currently undiagnosed.
People deemed to be at high risk after taking the saliva test – about one in 75 people or 1.3% – will have their situation explained by experts and offered genetic counseling and preventive measures, such as tests and regular checks.
People between the ages of 18 and 40 can request the test at www.dnascreen.monash.edu
