Australia’s chance to shine

Of course, gene discovery raises further questions, particularly of function and mechanism. For instance, how, what and when are all these genes and gene variants acting biologically and what does it mean for protein, cell and tissue function? In this context, Palmer’s main interest is working out how he, and indeed Australia, can best capitalise on this wealth of new genetic knowledge for positive health outcomes.

“We know all this great stuff we didn’t two years ago. Suddenly, we have 11 known genes for type II diabetes that together explain about 60 per cent of the risk, and five common genes for prostate cancer that together with family history explain around 40 per cent of the population risk.

“The question really is how to use this sort of knowledge to directly impact clinical practice and public health. What we are focusing on and where I think Australia has the most to offer the world is in public health genomics, genomic medicine and the translational applications of new genomic knowledge.”

The translational medicine aspect is the focus for Palmer and colleagues in building on and extending the long-established epidemiological research in WA. Biobanks – biobanking is the collection and analysis of population databases – have certainly experienced a huge push worldwide in the last few years. About 118 biobank projects that involve more than 10,000 people are currently running globally, and it is not easy to find a country in the world not running or planning one.

Based on early efforts in some countries, the worldwide focus now is on collecting very large sample sizes of DNA and preferably other biological material together with as much phenotypic information as possible on large, population-based samples. “This focus has really changed fundamentally how governments, industry and researchers are thinking about doing large-scale epidemiology,” Palmer says.

“We all realised that we really need to study hundreds of thousands of people and set ourselves up to characterise these new disease-associated genes if we are to translate the results for clinical benefit. We need to work out what these genes are doing in a general population and how they interact with other genes and with environmental factors such as smoking, diet and physical activity to increase risk of disease.”

The next step is to set up a population-based platform to enable translational research, including new clinical trials with recruitment based on genotype. For instance, how do population and clinical researchers use the known genes for diabetes for health benefits in a general practice setting? “It is a mission involving education, software production, and standardising of genetic data and family history collection by general practitioners and health workers,” he says.