Over three years in the planning and involving many partners and stakeholders in Western Australia, the planned Joondalup Family Health Study was the focus of Lyle Palmer’s plenary presentation at the HGSA conference in Adelaide recently, titled Biobanks: next steps in complex disease discovery.

The Joondalup Family Health Study (JFHS) is planned to be a modern version of the highly successful and acclaimed Busselton Health Study, one of the longest running epidemiological research programs in the world. Started in 1966 and based in a town in WA’s south-west, Busselton has improved the health outcomes of many patients suffering chronic diseases such as asthma and cardiovascular disease.

Much has progressed in the field of genetics and genomics since ALS last spoke to Palmer, chair of genetic epidemiology at the University of WA, about his plans for a WA biobank project. “Since 2006, we as a genetics community have worked out how to find genes for complex disease,” he says.

Publication of the first really large genome-wide association studies in early 2007 gave the proof of principle. These showed that with a big enough study and enough markers across the genome – half a million or more – common genes associated with modest effect sizes could be found for diseases such as rheumatoid arthritis, cancer, heart disease and diabetes.

Given the field’s vastly improved understanding of the architecture of the human genome in recent years, the discovery of common genetic variants in human disease was not a surprise per se, according to Palmer. However, the speed and scale of the findings shocked almost everyone.

“It is probably more explosive and spectacular than we ever thought it would be in terms of success,” he says. “There are now well over 100 validated, new genes associated with complex human diseases and the figure is rapidly heading towards 200. It has been described repeatedly as the most explosive period of growth in biological knowledge in history – sort of like doing physics 100 years ago.”