Faster, higher, stronger: genome and cancer projects propel Australia’s biggest health study towards new frontiers

Major enhancements to the Sax Institute’s 45 and Up Study to be outlined today will help create the world’s largest public genome database to drive cutting-edge research to identify the genetic causes of conditions such as heart disease, diabetes, cancer and kidney disease.

The Study will also now be used to build predictive models on the risk of disease that will help us determine where to intervene for prevention and early detection of diseases such as lung and prostate cancer.

“Australia’s biggest health study just got even better,” said 45 and Up Study Scientific Director Professor Emily Banks. “Researchers already have a huge data resource available to them in the 45 and Up Study and its quarter of a million participants, but these new enrichments mean we now have a research advantage that people in other parts of the world will envy.”

The major enhancements to the Study are a result of two Sax Institute collaborative projects with the Garvan Institute of Medical Research and major Study partner Cancer Council NSW. They will be presented today at the 45 and Up Study annual meeting in Sydney.

Head of the Garvan Institute’s Kinghorn Centre for Clinical Genomics, Associate Professor Marcel Dinger, said blood samples from 2000 of the Study’s participants would 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.

Director of Cancer Council NSW Cancer Research Division and keynote speaker at today’s meeting, Professor Karen Canfell, said Cancer Council NSW would use information already collected from participants in the Study 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?”

Opening the meeting, NSW Health Minister Jillian Skinner said the State Government (and Australia as a whole) was 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 in to 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.

About the 45 and Up Study

The 45 and Up Study is the largest ongoing study of healthy ageing in the Southern Hemisphere involving a quarter of a million people – one in every 10 men and women aged 45 and over in NSW.

Over time, we are asking all participants ongoing questions about their health, lifestyle, and the medications they use. It is providing the first large-scale, comprehensive measure of health as people move from mid to later life and allowing governments and health policy makers to better plan health services and programs for our ageing population.

It is an accessible resource that researchers and policy-makers can apply to use. More than 580 researchers have used the Study in their work, and numerous policy agencies are also using it directly to help them address important questions about designing and delivering health services.

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