Australia's first whole-genome testing service

The Garvan Institute’s Kinghorn Centre for Clinical Genomics has launched Australia’s first clinical whole-genome sequencing service, with the potential to triple the diagnosis rates for Australians living with rare and genetic conditions.

The service is the result of a two-and-a-half-year development at the Kinghorn Centre in conjunction with NSW Health Pathology. It will be offered by Genome.One, a newly established health information company that is owned by, and based at, the Garvan Institute in Sydney.

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, who will screen all 20,000 genes at one time.

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

“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,” said Dr Marcel Dinger, head of the Kinghorn Centre.

According to Garvan’s executive director, Professor John Mattick, the launch marks a turning point in disease diagnosis and health care in Australia. He noted, “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 looking forward to working with local and international clinical and research communities to grow our knowledge of the human genome,” added Dr Dinger. “This will ultimately lead to further breakthroughs and a greater understanding of how each person’s unique genome affects their individual health.”

The ability to diagnose a rare disease 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.

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

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.