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Aust gets first whole-genome test service

AAP logoAAP 26/07/2016

The number of Australians diagnosed with rare and genetic conditions is set to triple with the launch of the country's first whole-genome testing service.

People suspected of having a genetic condition can have all 20,000 genes that make up the whole human genome screened at the state-of-the-art centre, based at Sydney's Garvan Institute of Medical Research, to be launched on Wednesday.

This will provide faster and more accurate testing, says Garvan Institute executive director Prof John Mattick - who has hailed its launch as the mark of a "new era" in genetic disease diagnosis in Australia.

It's estimated the service will increase the diagnosis rate of these often rare genetic conditions from around 20 per cent to 40-60 per cent.

Dr Marcel Dinger, head of the Kinghorn Centre for Clinical Genomics, says the impact of a more timely and accurate diagnosis is significant for families who carry these inherited diseases.

"This one test puts an end to the long and complicated journey to diagnosis that at the moment, many families endure," Dr Dinger said.

"The value the test provides is not just confined to benefits to the patient, it will have economic benefits to the health care system as well."

Families who are currently searching for a diagnosis of a genetic disease are advised to speak to their specialist about whether the new test is appropriate for them.

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