Human Genetics and Disease

Those countries with the highest chances of success in applying genomic knowledge and tools in clinical and public health settings have total population data and family record linkage, so that all those with and without disease can be studied in an unbiased way throughout the whole life span. Such linkages and resources already exist at the University of Western Australia, where a national and international resource for genetic epidemiology is being developed that will build on the unique Western Australia population health data that has been collected and managed over the last three decades. These linkages mean that the entire Western Australia population can be monitored for all major diseases/conditions, their risk and predictive factors, and the use and role of health services studied.

The Western Australia Genome Project will capture biospecimens on all consenting members of the living population of Western Australia (of approximately 2 million people). The core datasets now include all birth cohorts since 1980 (including prospective antenatal and perinatal data on all live births in the state); the linkage of hospitalisations and disease registers commenced in the 1970s.

Through research activities at the Western Australian Institute of Medical Research and University of Sydney as well as affiliated Hospitals, additional linkages to national Medicare and pharmaceutical benefits and aged care data from the Health Insurance Commission and the Commonwealth Department of Health and Aged Care will enable the study of all hospital and medical service contacts for particular diseases and conditions. Very few countries internationally have this capacity.

The linkage of the core population-based datasets to a large number of longitudinal cohort studies with extensive exposure data and biospecimens provides the potential to investigate the changing roles of genes and gene-environment interactions over the entire life span in population-based samples representative of the general Australian population. These population databases, genetic epidemiology and associated biospecimens can be harnessed in the EMBL Australia Scientific Program to:

• stratify population according to increased health span/lifespan;
• sequence the genomes of individuals in these categories;
• identify candidate gene sets (ROS, telomerase, mitochondrial, hormonal/systemic, regenerative, environmental response);
• develop tools to define molecular mechanisms leading to increased longevity and genetic origins of disease.