The Garvan Institute of Medical Research’s Kinghorn Centre for Clinical Genomics has launched Australia’s first clinical whole-genome sequencing service.
It is understood the new service could triple the diagnosis rates for Australians living with rare and genetic conditions, from around 20 per cent to 40 – 60 per cent.
The Garvan Institute’s Executive Director, Professor John Mattick AO FAA, said the launch marks 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," said Professor Mattick.
“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,” added Professor Mattick.
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 service will be offered by 'Genome.One', a newly established health information company that is owned by, and based at, the Sydney-based Garvan Institute of Medical Research.
According to Bill Ferris AC, Chair of Innovation and Science Australia and past Chair of the Garvan Institute, “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.
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,” added Dr Dinger.
