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Living with a time bomb

Nicky Phillips (via SMH) | March 21, 2013

''Unfortunately, we have a bad track record, and we all have it,'' he says.

The mutation means Slotwinski, 54, has a 5 per cent to 12 per cent greater risk of developing pancreatic or prostate cancer than the general population, while his sisters have a 15 to 30 per cent increased chance of contracting breast, ovary or pancreatic cancer compared with other women.

Based on their risk profile, Slotwinski and his siblings take part in regular screening programs. His sisters took the more dramatic step of having pre-emptive surgery - one to remove her ovaries, while the other had a complete hysterectomy.

Slotwinski says he has coped well with the knowledge of his increased risk of cancer, because with knowledge comes power. ''I like the idea of catching something early,'' he says.

Slotwinski and his sisters represent the group with the most to gain from genetic testing - people who have a known mutation linked to specific cancers but are yet to display any symptoms and can therefore be monitored.

Cancer geneticist Professor Graeme Suthers says clinicians encourage patients with a genetic mutation that is known to increase cancer risk to speak to their family about testing.

''It means we can target screening to those people who really need it - early cancers will be detected and lives will be saved,'' says Suthers, a spokesman for the Royal College of Pathologists of Australasia.

But despite the health benefits, only about 20 per cent of at-risk relatives come forward for testing. Suthers suspects it is a combination of fear and busy lifestyles that keeps people away.

In 2001, the Adelaide familial cancer clinic he directs trialled a different approach to boost the number of at-risk family members coming for testing.

The clinic sent letters to family members who might be at risk, offering them the opportunity to be tested.

''We wanted the letter to be sufficiently clear, so people didn't throw it away, and sufficiently confronting, so people would take notice, but not too confronting so people lay panic-stricken in their beds,'' he says.

The approach worked, and the number of at-risk family members who fronted up for testing doubled to 40 per cent.

''But it leaves begging [the question] why 60 per cent of this population in the 21st century will not come forward to obtain potentially life-saving information about their health,'' Suthers says.

The benefits of genetic testing for people such as Zenon Slotwinski (regular cancer screening), and Chontell Johnson (certainty) are well-documented, but for most disorders the genetics are complex and the benefits of testing less straightforward.

The human genome is a complex language, and while scientists have deciphered its basic code, they struggle to interpret its meaning.


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