Australia's biggest ageing study just got better

Enhancements to the Sax Institute’s 45 and Up Study will help drive research into the genetic causes of various diseases, as well as to build predictive models on the risk of disease.

The 45 and Up Study is said to be the largest ongoing study of healthy ageing in the Southern Hemisphere, involving 250,000 people — one in every 10 men and women aged 45 and over in NSW. Participants in the study are routinely asked questions about their health, lifestyle and medications, thus providing a large-scale, comprehensive measure of health as people move from mid to later life.

The enhancements to the study are a result of two Sax Institute collaborative projects with the Garvan Institute of Medical Research and Cancer Council NSW respectively. According to 45 and Up Study Scientific Director Professor Emily Banks, “These new enrichments mean we now have a research advantage that people in other parts of the world will envy.”

The head of the Garvan Institute’s Kinghorn Centre for Clinical Genomics, Associate Professor Marcel Dinger, said blood samples from 2000 study participants will be used to form part of the NSW Government-funded Medical Genome Reference Bank — the largest of its kind in the world. Genome sequencing of the blood samples in the bank will mean researchers can identify what the genetic profiles of healthy older people look like and use these as a ‘filter’ to distinguish between normal genetic variation and variation caused by disease.

“The data contained in the Medical Genome Reference Bank will be an unparalleled resource that will vastly improve our understanding of healthy ageing and catalyse genomics studies seeking to identify the genetic basis of rare, inherited and more common diseases such as heart disease, diabetes, cancer and developmental disorders,” Associate Professor Dinger said.

The director of the Cancer Council NSW Cancer Research Division, Professor Karen Canfell, added that Cancer Council NSW will use information already collected from study participants to create computer simulated ‘virtual populations’. The information from these computer models could then be used to predict outcomes like lung cancer and the health and economic impacts of prevention strategies.

“Predictive modelling has the power to tell us what types of patients we should target to get the most benefit from health services we might offer,” she said. “This type of work really is the next frontier in using research to help us answer important policy questions, such as: how can we screen for diseases like lung cancer in a way that maximises the benefits and cost-effectiveness?”

NSW Health Minister Jillian Skinner said the state government is already seeing a return on its major investment in the 45 and Up Study.

“In this era of big data, where governments are considering how to use the information they already have to plan better services and improve population health, the study gives us a way into the picture, allowing us to join the dots between the rich detail of people’s backgrounds and experiences and the information collected by the system such as admissions to hospital,” she said.

The enhancements were presented this week at the 45 and Up Study’s 12th Annual Collaborators’ Meeting in Sydney.