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Australia should test all bowel cancer cases for hereditary condition, Lynch syndrome

28th October 2019 - Cancer research

New Cancer Council research has found that it would be cost-effective to routinely test bowel cancer cases for Lynch syndrome, a hereditary condition that significantly increases risk of bowel and potentially cancer at other sites. This strategy would save lives, increase awareness of this hereditary genetic mutation, and ultimately help reduce the burden on the Australian healthcare system by preventing or diagnosing more cancers earlier.

Lynch syndrome is a mistake in a person’s genes, usually inherited from a parent, and affects around 1 in 280 Australians. Mismatch repair genes help protect against the development of cancer cells, so someone with a mutation has a greatly increased chance of developing more than one aggressive cancer during their life, often at a younger age than the general population. Lynch syndrome is associated with an increased risk of up to twelve different cancers but most commonly bowel and endometrial cancers. If Lynch syndrome is confirmed in one family member, genetic testing can be made available to at-risk relatives and lifestyle and surveillance risk management can reduce the number of cancers in that family 

The new study found that routine testing of all bowel cancers in Australia for Lynch syndrome would be cost-effective and has the potential to prevent 80 bowel cancer deaths per year. This would also result in around 10-13% more colonoscopies in Australia per year targeted to people diagnosed with Lynch syndrome-related bowel cancer and their relatives who tested positive for Lynch syndrome. The cost-effectiveness ratio would range between A$28,915 to A$31,904/life-year saved (LYS), which is well within Australia’s indicative willingness-to-pay threshold of A$30,000-A$50,000/LYS.

Karen Canfell, Chair of the Cancer Council Australia Cancer Screening and Immunisation Committee and Adjunct Professor at the University Sydney, senior author of the study, said that the results supported efforts to introduce routine Lynch syndrome testing for new bowel cancer cases. Professor Robyn Ward, Executive Dean Medicine and Health, University of Sydney and co-author commented that continued improvements in technology coupled with a better understanding of the genetic basis of some cancers made screening for hereditary cancers feasible.

“There were around 16,000 bowel cancer cases in Australia last year and despite the fact that almost 3% of these would have been linked to Lynch syndrome most people have still never heard of the condition,” Karen Canfell said. “Other countries, such as the UK, already recommend routine testing for Lynch syndrome in bowel cancer cases. Currently, the availability and practice of Lynch syndrome testing varies substantially around the country.”

“This study shows us that not only would routine testing for Lynch syndrome save lives, but it would be cost-effective to do so.”

Susan Morris, Executive Director at Lynch Syndrome Australia has experienced first-hand the impact of this genetic condition and would love to see awareness raised among the general public, professional health networks and at a government level.

“Lynch syndrome has been in my family for at least four generations,” said Susan Morris. “And, because Lynch syndrome-related cancers are fast-growing, knowing that you are risk and having regular checks, are vital. Out of the 100,000 Australians estimated to have a Lynch syndrome gene mutation, only about 5% of us know we are affected. Finding and protecting these families is our first priority. One of the most efficient ways to find those at risk is to test everyone with bowel cancer to see if they might have this mistake in one of their genes.

“Lynch Syndrome Australia research has found that those who know they are at risk are far more likely to undergo regular colonoscopies and other check-ups, which in turn can lead to prevention or early detection. It is much cheaper for the Health system – and much better for us – to test bowel cancer samples in a laboratory, offer genetic counselling and regular colonoscopies than to treat advanced bowel cancer. 

“It’s time for Australia to start taking Lynch syndrome seriously. It is, after all, the country’s most common hereditary cancer-causing condition.”

Cancer Council researchers are also taking the next step to address variability in Lynch syndrome clinical practice through our implementation research which aims to ensure all CRC patients carrying the Lynch syndrome gene are identified.

Cancer Council encourages families with a high occurrence of the types of cancer associated with Lynch syndrome to see their general practitioner and ask about genetic testing, see a genetic counsellor, or call 13 11 20 for more information.

Cancer research