The Garvan Institute of Medical Research’s Kinghorn Centre for Clinical Genomics launched Australia’s first clinical whole-genome sequencing last July 27 in Sydney.  The institute states that this could help increase the diagnosis rate of rare and genetic disorders up to three times or 20-60 percent, improving healthcare in Australia.

“This new service extends cutting edge genomic technology beyond the research lab. We now have the ability to provide answers to many of the hundreds of thousands of Australians affected by genetic disease,” points out Garvan Institute’s Executive Director, John Mattick, in a press release.

“We are on the precipice of a tremendous revolution in health care.  The more we understand about the whole genome, the greater our ability is to make life-changing diagnoses for genetic conditions and help patients receive the right treatment faster.”

Genome.One, a health information company owned at based at Garvan, will provide the service in collaboration with DNAnexus. With the help of NSW Health Pathology, Australia’s biggest pathology services provider to the public, the service only took two and a half years in development at the institute’s Kinghorn Centre for Clinical Genomics.

genetic disorders

Australia’s first whole-genome sequencing service was launched this week in Sydney. Credit: e Garvan Institute of Medical Research

Now, Australian families do not have to wait too long before diagnosis. It can also have economic benefits to the health care system, says Marcel Dinger, the head of the Kinghorn Centre for Clinical Genomics.

Still, patients are advised to seek their genetic specialist’s advice if this new service is good for them. Once they have the permission to enjoy Genome.One’s service, all of their 20,000 genes will screened to accurately diagnose whatever rare and genetic disorders they may have.

Dinger adds that their team hopes to work with other clinical and research groups around the world. He says that this international collaboration will lead to more discoveries, better understanding of how genomes affect human health as well as improve the knowledge on how to treat conditions.