Australia launches first whole-genome testing service

28 July 2016

Australia has launched its first clinical whole genome sequencing service, enabling patients with rare genetic conditions to get a more accurate and faster diagnosis.

The new service is the result of collaboration between The Garvan Institute of Medical Research’s Kinghorn Centre for Clinical Genomics and NSW Health Pathology, Australia’s largest provider of public pathology services. The Garvan Institute has established Genome.One as a wholly owned subsidiary to deliver the service. Tests can only be ordered by a clinical geneticist or by specialist physicians supported by a clinical geneticist or genetic counsellors.

It is hoped the service will improve diagnosis rates for people living with rare genetic conditions, ending the often arduous ‘diagnostic odyssey’ they go through to find answers to their condition. The institute estimates sequencing the genomes of rare disease patients could identify the genetic basis of a disorder in 2-3 times as many patients as is currently the case. 

Describing the new service as a ‘turning point’ the institute’s Executive Director, Professor John Mattick said: “This new service extends cutting-edge genomic technology beyond the research lab.." Speaking to Australian news service abc.net.au, Professor Mattick pointed out the test is aimed at those who will benefit most  "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."

Australia’s genomic facilities have been growing at pace over the last few months. A new Genomics Innovation Hub intended to harness the power of genomic big data recently launched, whilst last month the Australian government announced funding to establish a new clinical genomic service in Canberra.

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