Unveiling your genetic compass

Posted: April 12, 2013 at 9:49 pm

FAIRFAX NZ

Sarah Lee, left, discovered she had an Alzheimers risk of 75 per cent, inherited from both her dad and mum, Eileen Smith.

Imagine if a test tube of spittle and $205 could mine your past to foretell your future. Would you want to know if your genetic compass pointed toward cancer, or if you carried a silent coding quirk that put your children at risk of cystic fibrosis?

And what if the horoscope foretold a devastating and incurable disease such as Parkinson's or Alzheimer's?

"Are you ready to take that on?" asks 26-year-old Danielle Lambermon, who found out in 2007 that she was one of 43 Auckland Hospital patients with a tiny risk of contracting brain disease Creuzfeldt-Jacobs Disease through contaminated instruments. | "I truly believe people don't see what the consequences could be. They think, 'It will be really good because then I'll know'. But will that make you live your life in a box? Would you do what you normally do? If you're not a strong personality it will mess up your life."

Direct-to-consumer (DTC) genomic testing, which uses genetic markers gleaned from a saliva sample to predict disease risk, has been widely available for five years. Once the sample is analysed - typically in a United States lab - test subjects access an online personalised risk profile for over 100 diseases, from brain aneurysm to restless legs syndrome, and find out if they are carriers for genetic conditions such as cystic fibrosis and breast cancer.

Initially costing about US$1000 (about NZ$1180) it was only ever going to be a niche service. But, for the first time last year, the controversial tests edged within reach of the average curious Kiwi, when major player 23andme, owned by Anne Wojcicki (partner of Google founder Sergey Brin) slashed its price to US$99 (US$173.95 for international customers).

About 180,000 people have already tested with 23andme, and an insurance industry study last March predicted US genetic testing demand would quintuple over the next decade.

It's not known how many Kiwis are spitting to map their genetic disease risks. But it's common enough that the courier collecting my test sample nodded at the paperwork: "Oh, it's one of those 23andme things."

The tests have been banned in Germany and some US states, and debate continues to rage about whether catch-all genomic tests provide empowering knowledge or meaningless - even dangerous - noise liable to obsess the worried well.

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Unveiling your genetic compass

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