New era in genetic disease diagnosis with Australia’s first whole-genome testing service to be launched today

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.

Professor John Mattick, Associate Professor Marcel Dinger, The Hon Jillian Skinner and Dr John Schubert

Media Release: 27 July 2016

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.[i]

“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 who 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, 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.

- ENDS -

For more information about the clinical service, for providers or patients, please visit

To enquire about the clinical service, email or P +61 2 9359 8002

For media enquiries, please contact:

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About the Garvan Institute of Medical Research

The Garvan Institute of Medical Research is one of Australia's largest medical research institutions and is at the forefront of next-generation genomic sequencing in Australia. Garvan’s main research areas are: cancer, diabetes and metabolism, immunology and inflammation, osteoporosis and bone biology, and neuroscience. Garvan’s mission is to make significant contributions to medical science that will change the directions of science and medicine and have major impacts on human health. In 2012, Garvan established Australia’s first purpose‐built facility for undertaking clinical-grade genome sequencing and large-scale research projects. The Kinghorn Centre for Clinical Genomics (KCCG) researchers undertake collaborative projects and genome‐based studies to improve genome interpretation, with the aim of advancing the use of genomic information in patient care.

About Genome.One

Genome.One ( is a pioneering health information company providing genetic answers to life’s biggest health questions through clinical Whole Genome Sequencing. Genome.One aims to enhance the lives of patients, families and communities across the world. Genome.One is a wholly owned subsidiary of the Garvan Institute of Medical Research, Sydney, Australia.


About genomics

What is a genome?

A genome is the complete set of genetic information we inherit from our parents, encoded within 2 meters of DNA packed tightly into each of our cells as chromosomes.

What is genomics?

Genomics is the study of the structure and function of the genome of an organism.

What is genomic medicine?

Genomic medicine is patient diagnosis and treatment based on information about a person’s entire DNA sequence.

What is DNA sequencing?

DNA sequencing is a laboratory technique used to determine the sequence of units or bases in a DNA molecule. Sequencing methods have changed over time; the machines used by Genome.One use complex chemistry and high-resolution optics to determine the sequence.

The DNA sequence is a series of letters – As, Cs, Gs, and Ts – that represent the order of base pairs in a person’s DNA. The sequence of a single human genome has approximately 6,000 million letters to read and interpret. In a sequencing laboratory, machines break the DNA up into manageable segments and read the order of the DNA bases or letters. Computers are then used to compare the DNA sequence with other sequences to locate the differences or variants.

What is a rare, genetic condition?

A rare condition is a specific, clinically serious condition affecting fewer than 1 in 2,000 people i.e. less than 0.05 per cent of the population. Some 80 per cent of rare diseases are genetic in origin, with the age of onset of symptoms ranging from early childhood to adulthood.  More than 50 per cent of rare diseases appear during adulthood. Rare diseases typically exhibit a high level of symptom complexity and as a result they very frequently require special combined treatments.

Worldwide, 6,000 to 8,000 rare diseases have so far been identified, with new conditions diagnosed and described in the medical literature on a weekly basis. On this basis, current conservative estimates indicate that approximately 6-8 per cent of Australians are affected by a rare disease.  

[i] Rare voices. (2016). Rare Voices Australia. Retrieved 19 July, 2016, from


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