DNA-sequencing breakthrough could lead to personally-tailored medicine, says leading Australian scientist

24 Oct 2013

Personalised medicine, where an individual's genetic makeup would be used by doctors to tailor a health optimisation program for them, is on the horizon, a leading Australian scientist believes.

Garvan Institute Executive Director, Professor John Mattick, says extraordinary advances in DNA sequencing technology have provided an unparalleled insight into human genetic variation and the molecular basis of inherited disorders.

There is also greater understanding about the risk of complex diseases such as diabetes and stroke, and the mutations underlying different cancers, which will inform management and treatment strategies.

Professor Mattick says these advances will change medicine forever.

"This will change medicine from being the art of crisis management to the science of good health, with enormous benefits for individuals, families, health economics and national wellbeing," Professor Mattick said.

"Within a decade or two most people will have their personal genome sequence included in their medical records, and incorporated into personal health and disease-risk management.

"Patients' medical treatment will be tailored according to their genetic, social and cultural circumstances – providing much more accurate and effective advice and treatment."

Professor Mattick was the guest speaker at the Science & Research Breakfast Seminar, hosted by the Office of the NSW Chief Scientist & Engineer, in Sydney today.

Professor O'Kane says Professor Mattick has been at the forefront of the so-called "genomics revolution" in Australia.

"John has done a huge amount of research in the areas of genetics and genomics and greatly enhanced our understanding of both through his visionary theories on so-called 'junk' DNA – the 97 per cent or so of human DNA that does not encode instructions for making proteins," Professor O'Kane said.

"However, what we now know, through the work of John and others in his field, is that much of that noncoding DNA can play a significant role in controlling cell development.

"Researchers, as a result, have found a new way of controlling the activity of genes, increased our understanding of human development, and paved the way for new methods of treatment.

"These are really exciting times," Professor O'Kane said. "We are on the cusp of personalised medicine, where a person's genetic makeup will be able to inform a treatment tailored for them, whether the issue is obesity or cancer."

Professor Mattick was appointed Executive Director of the Garvan Institute in January 2012, after more than two decades at the University of Queensland where he established the Institute for Molecular Bioscience.

Last year, he received the Human Genome Organisation's Chen Award for distinguished academic achievement and research.


Genomics will impact four key areas:

* It will be used to accurately diagnose inherited diseases, including rare diseases and intellectual diseases;

* It will be used to identify the molecular stratification of cancer to direct treatment pathways;

* It will optimise drug choices and drug dosage based on an individual's genome; and

* It will be used to identify an individual's incipient risks and fragilities, to guide avoidance, mitigation and monitoring strategies.