Inside a DNA sequencer. Photograph courtesy of Paula Morris.
Media Release: 17 June 2014
The Garvan Institute of Medical Research has welcomed today’s announcement of $24 million in State Government funding for a genomics research collaborative, saying it puts NSW at the cutting edge of medical research and would deliver long-term health benefits.
The Sydney Genomics Collaborative program will boost access for medical researchers across NSW to state-of-the-art technology supporting whole-genome research into inherited diseases and disorders with a genetic component, including cancer.
The Collaborative will utilise the Illumina HiSeq X Ten, a high-speed genome sequencing system operated by the Garvan Institute. Garvan is the only research centre in Australia, and one of only a handful worldwide, offering the HiSeq X Ten capability.
Genomics is one of the fastest-growing areas of medical research and has emerged as a highly promising source of new insights into the genetic cause of disease. The Illumina HiSeq X Ten technology enables the study of whole-genome sequences at the scale of large populations.
The Collaborative will comprise:
- Medical Genomics Reference Bank – a resource containing whole genome sequences to be used for control purposes in disease-specific genomic research. This database will be compiled from existing cohorts.
- NSW Health Collaborative Genomic Medical Research Grants Program – funding for researchers to undertake whole-genome sequencing to improve understanding of the genetic causes for disease.
- NSW Cancer Genomic Medicine Program – a research program dedicated to applying genomics to the understanding, early detection, prevention and management of cancer, led by the new Head of Garvan’s Cancer Division and Director of The Kinghorn Cancer Centre, Professor David Thomas.
Professor Thomas praised the initiative, saying: “This investment will give NSW an international leadership role in translating the potential of genomics research into better health outcomes. Importantly, it will ensure this work is undertaken within a rigorous ethical, public health policy and medical framework.”
The Collaborative will be overseen by a Genomic Scientific Advisory Group to be appointed by NSW Health and chaired by Emeritus Professor Bruce Armstrong of the University of Sydney’s School of Public Health. The advisory group will comprise researchers, clinicians, statisticians, medical ethicists and economists.
Executive Director of the Garvan Institute, Professor John Mattick, said the Collaborative was a far-sighted investment in public health and in positioning NSW as a hub for genomic research and genomic medicine.
“Genomics is enabling medical research in unforeseen ways and will transform medicine as we know it. It is already providing new insights into cancer and many other life-threatening conditions, but we have only scratched the surface of its potential,” Professor Mattick said.
“The NSW government has shown great leadership in committing to this funding initiative. It is also timely given that the cost of sequencing has fallen to the point where population-scale genomics research is accessible to a broad community of medical researchers and clinicians,” he said.
NSW Minister for Health and Minister for Medical Research Jillian Skinner said: “The Sydney Genomic Collaborative Program is the most exciting new venture I’ve seen in my time as Minister for Medical Research. Sequencing of large cohorts of patients has the potential to unleash amazing improvement in health and efficiencies in health spending.”
Among other responsibilities, the Genomic Scientific Advisory Group will assess applications for research funds from qualified individuals and research bodies.
Garvan announced last January that it had become one of the first institutions in the world to acquire the HiSeq X Ten technology, which is capable of sequencing more than 350 genomes a week (18,000 a year) at a base cost of around USD$1,000.
NOTES TO EDITORS
What is a genome?
A genome is the complete set of genetic information we inherit from our parents, contained in a DNA molecule that is roughly two metres long and contained in every cell of our body.
What is genomics?
Genomics is the study of the structure and function of the genome of an organism.
What is the difference between genetics and genomics?
Genetics focuses on specific genes, or sections of DNA, while genomics (and genome sequencing) looks at the whole genome.
What is genomic medicine?
Clinical genomics is the use of genome sequencing to inform patient diagnosis and care. Genomic medicine is patient diagnosis and treatment based on information about a person’s entire DNA sequence.
What is DNA sequencing?
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 human genome is around three thousand million letters. As each person inherits one copy of their chromosomes from their mother and another from their father, there are actually six billion letters to read and interpret.
DNA sequencing is a laboratory technique used to determine the sequence of units or bases (A, C, G, and T) in a DNA molecule. Sequencing methods have changed over time; the most advanced equipment today (such as the HiSeq X Ten) uses complex chemistry and high-resolution optics to determine the sequence.
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.