The Garvan Institute of Medical Research’s Kinghorn Centre for Clinical Genomics will launch Australia’s first clinical whole-genome sequencing service at an event today in Sydney. This new service could triple the diagnosis rates for Australians living with rare and genetic conditions.

The Garvan Institute’s Executive Director, Professor John Mattick AO FAA said that the launch will mark a turning point in disease diagnosis and health care 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.1

“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.

“We are at the forefront of genomic discovery and understanding - it is a very exciting time,” Professor Mattick said.
This Australian-funded whole-genome sequencing service is the result of a two and a half year development at the Garvan Institute’s Kinghorn Centre for Clinical Genomics in conjunction with NSW Health Pathology - the country’s largest provider of public pathology services.

The service will be offered by Genome.One, a newly established health information company that is owned by, and based at, the Garvan Institute of Medical Research in Sydney.

Bill Ferris AC, Chair of Innovation and Science Australia and past Chair of the Garvan Institute, said, “Genome.One is a wonderful example of how the superb medical research and technology in our country can be translated into innovative health advances and real economic benefits.”

Patients seeking a diagnosis for a possible genetic condition will be referred to a clinical genetic service which will work with NSW Health Pathology to assess whether whole genome sequencing can provide an answer.

Those who may benefit will then be able to access the service from Genome.One which will screen all 20,000 genes at one time, providing a faster, more accurate and comprehensive service than any other genetic testing in the country.

The new service will be able to help hundreds of thousands of Australians who currently live with a genetic condition1, many of which are rare and challenging to diagnose. This new service will increase the diagnosis rates of these conditions from around 20 per cent to 40 – 60 per cent.

Dr Marcel Dinger, Head of the Kinghorn Centre for Clinical Genomics predicts that the impact of this new service will be significant.

“For families, receiving an accurate and timely diagnosis could result in access to new treatments and therapies as well as a clearer understanding of the journey ahead,” he said.

“This one test puts an end to the long and complicated journey to diagnosis that at the moment, many families endure. The value the test provides is not confined to benefits to the patient, it will have economic benefits to the health care system as well.

“We are looking forward to working with local and international clinical and research communities to grow our knowledge of the human genome. This will ultimately lead to further breakthroughs and a greater understanding of how each person's unique genome affects their individual health,” Dr Dinger added.

The ability to diagnose a rare disease also provides the opportunity for patients and clinicians to connect with others who have the same diagnosis around the country and the world, allowing them to better understand and potentially treat their condition, as well as providing a much-needed support network.

Families who are currently searching for a diagnosis of a genetic disease should speak to their genetic specialist about whether Genome.One’s new test is appropriate for them.