A new Australian study published in The Lancet suggests population-wide genetic screening for hereditary breast and ovarian cancer, familial hypercholesterolemia and Lynch syndrome, in people aged 18 to 40, would be cost effective and save lives.
Currently, around one in 75 people are at high genetic risk of one of these conditions, yet most are unaware of the risk or implications.
Experts at Monash University simulated a model of 8.3 million adults (Australia’s population aged 18 to 40) and their lifetime to age 80, assuming 50% would take part in the genetic screening.
10,000 Australians aged 18 to 40 were offered genetic screening via an at-home saliva test. A high-risk genetic result was detected in around 2% of people.
According to the study, screening for these genetic conditions in Australians aged 18-40 could prevent 4047 deaths and 2612 cancers – including 451 bowel cancers.
Lynch syndrome, also known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC), is one of the three most common inherited syndromes linked to bowel cancer.
If you have Lynch syndrome, your lifetime risk for bowel or other syndrome cancers is 70-90%. Your children have a 50% chance of inheriting the mutation.
According to medical guidelines, surveillance colonoscopy every 1 to 2 years is recommended if you carry a germline mutation or are clinically at risk of carrying a mutation but definitive testing is not possible, commencing from age 25 or 5 years earlier than the youngest affected family member if they were diagnosed under 30, whichever comes first.
Annual surveillance is preferred in known mutation carriers.
More information on Lynch syndrome here.
