How free genetic screening for cancer, heart disease could save 4000 Aussies

Thousands of lives could be saved by a national screening program for cancer and heart disease, a world-first Australian trial has found. See how.

Exclusive: A world first Aussie program to screen 18-40 year olds for genes that cause cancer and heart problems found it could stop 4047 deaths and prevent 2612 cancers.

Despite a staggering price tag of $832 million, a new study to be published in the Lancet’s eClinicalMedicine journal on Thursday found if the government funded the testing program it would be cost effective.

The price tag was estimated by Monash University researchers who are testing 10,000 young Australians for genes linked to hereditary breast and ovarian cancer (caused by the BRCA1 and BRCA2 genes), familial hypercholesterolaemia, and Lynch syndrome, a genetic condition that increases the risk of colorectal and other cancers.

All three conditions can be treated or prevented if detected early and patients undertake regular scans, colonoscopies, take medicines and undergo surgery to prevent the conditions.

Around one in 75 people are at high genetic risk of one of these conditions, but most are unaware they are at risk and therefore do not access available lifesaving interventions.

Monash University’s Dr Paul Lacaze. Picture: Alex Coppel.

“We can now say with confidence, based on our rigorous modelling analysis, that offering population-wide preventive DNA screening to young adults in Australia would not only save lives, but also be cost-effective,” Monash University preventive medicine expert Associate Professor Paul Lacaze said.

Australia’s health system will pay for medicines and treatments that cost less than $50,000 annually for every extra quality year of life they deliver.

The study found screening for the in question genes had a cost-effectiveness ratio of $23,926 per quality-adjusted life-year; this compares with the $40,000-$65,000 cost effectiveness ratio for breast cancer screening, $16,632 for cervical cancer screening and $3380 for bowel cancer screening.

When the government-funded research program opened last year more than 10,000 Australians registered for the test within 24 hours.

Kara Hateley’s mother and both her grandmothers had breast cancer so she was keen to find out whether there was a genetic factor that could place her at risk.

The 29-year-old business analyst from Melbourne was quick to sign up when she learned she could get a free genetic test under Monash University’s DNA Screen program.

Kara Hateley, 29, found she carried the BRCA 2 gene after taking part in a study to screen people aged 18-40 for genetic conditions. Picture: Jake Nowakowski

“Very shocked and upset” was her reaction when she found she carried a BRCA2 gene mutation that places her at increased risk of breast and ovarian cancer.

“Your mind takes you into a bit of a dark place. You think am I going to pass away? If I do get sick, how’s it going to impact the people around me? I can take preventative measures like having a double mastectomy and having my ovaries and fallopian tubes removed, but they are major surgeries so how am I going to feel afterwards?” she said.

Ms Hateley has already had a breast MRI and is having six-monthly check ups. She plans to marry her partner next year and is investigating whether using IVF to have a child might ensure the genes she carries are not passed on to the next generation.

She is considering having a double mastectomy before age 35 and having her ovaries removed at age 40 to prevent cancer.

“I was getting a little bit panicky when I didn’t have a plan in place but since I’ve kind of started those conversations with specialists I felt a lot more at ease,” she said.