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Australia becomes second country to offer whole genome sequencing to patients -

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MICHAEL BRISSENDEN: Genetic tests can be helpful but they are piecemeal and doctors have to know what they're looking for.

That's all about to change. Patients in Australia will now be able to have their entire genome sequenced.

Sydney's Garvan Institute has been using genome sequencing as a research tool but is now offering it to patients.

It's only the second place in the world to do so.

Medical reporter Sophie Scott has the story.

SOPHIE SCOTT: Twelve-year-old Abbey Brimble has a genetic condition so rare it took doctors 10 years to find the right medication to prevent her seizures.

And they still don't know exactly what condition she has, despite countless tests.

Her mother is Nichole Brimble.

NICHOLE BRIMBLE: You build your hopes up and then all of a sudden they're dashed again a few months later, and it's almost emotionally you're back to where you were when she was six months old.

SOPHIE SCOTT: The Brimbles are hoping an answer may be closer now that the Garvan Institute has started offering a revolutionary new test.

The institute's Dr Marcel Dinger explains.

MARCEL DINGER: Instead of just looking at one gene at a time, which is how the other tests used to work, this looks at the entire genome in one go.

And that effectively prevents the need for having to individually go through and guess one test after another, which is how it used to be done. Now we get all the information at once and we can get the diagnosis much more quickly.

SOPHIE SCOTT: Scientists have used the technology for a while but now it's going out to the clinic.

Doctors hope it will help hundreds of thousands of Australians with rare genetic conditions.

But the institute's executive director Professor John Mattick warns it is not being made available to the general public yet.

JOHN MATTICK: Well, we're focusing initially on the area of real unmet need and that is that significant number of Australians who are affected by genetic disease and who lay undiagnosed.

Of course giving those individuals and their families a diagnosis gives them closure about the cause of their problem, gives their treating physicians information that can help, and in some cases, transform their lives.

So we see that as an important first step. It's also relatively straight forward, analytically and technically to do that.

Down the track, of course, we will be looking to expand our services to other aspect of genomic variation that may affect people's health.

SOPHIE SCOTT: The Brimbles hope by learning what condition Abbey has, they'll find better medicines for her.

NICHOLE BRIMBLE: Abbey's always been a mystery to both her doctors and to us and so getting a diagnosis for Abbey would mean hopefully we could touch base with other people who have the same genetic disorder as Abbey and that way we can maybe find out what to expect for her in the long term health wise.

SOPHIE SCOTT: The Garvan says the new service can triple the diagnosis rates for Australians living with rare genetic conditions from around 20 per cent up to 60 per cent.

MICHAEL BRISSENDEN: Medical reporter Sophie Scott.