The WA Genome Health Project

Those countries with the highest chances of success in applying genomic knowledge and tools in clinical and public health settings are those with 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 in Western Australia.

Western Australia has a large number of internationally unique population-based data sets that are ideal for genetic epidemiological research and which could quite literally put Australian researchers at the forefront of genetic epidemiological research worldwide. In general, it is clear that there are significant opportunities to translate the strengths in clinical research and epidemiology and the world-class population-based resources and linked records currently available in WA into an exceptional and internationally competitive program in genetic epidemiology. The challenge currently being met in WA is to foster close and sustainable statewide collaborations between clinical and scientific groups, to clearly define feasible goals and a strategic plan, to attract adequate research funding, and to utilize and develop the extant resources into an internationally competitive research resource.

We are in the process of developing a national and international resource for genetic epidemiology that will build on the unique WA population health data collected and managed over the last 3 decades. These data are based on linkage within and between the WA statutory collections (all births, deaths, hospitalisations, mental health services contacts, cancer registrations) and additional population disease registers and health surveys^1,2. These linkages mean that the entire WA population can be monitored for all major diseases/conditions, their risk and protective factors, and the use and role of health services studied. 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. Recent additional linkages have commenced to national Medicare and Pharmaceutical Benefits and aged care data from the Health Insurance Commission and Commonwealth Department of Health and Aged Care, enabling the study of all hospital and medical service contacts for particular diseases and conditions. No other state in Australia and very few countries internationally have this capacity, which has been responsible for a large number of epidemiological advances^1,3,4. A number of internationally unique population-based disease registries are linked to the core datasets, eg. mental health, type-1 diabetes, cerebral palsy, birth defects, and cancer^1-4. Stage 1 of the Family Connections project has recently linked nuclear families within the core WA total-population-based databases back to the early 1970s using electronic registrations, and we are now extending the pedigree linkages back to 1840 using paper records and public assistance (stages 2 and 3).

In addition to the core datasets in the WA Data Linkage System, there are a large number of disease-focused clinical and epidemiological research populations that have been collected in WA over the last 30 years along with a large number of biospecimen banks. A substantial proportion of these datasets and biospecimen banks are population-based. The Western Australian Genetic Epidemiology Resource (WAGER) is currently enabling the integration of all extant and future disease-specific clinical, epidemiological and genetics resources available in WA with biospeciman banks and with the WA Data Linkage System. The linkage of the core population-based datasets to a large number of longitudinal cohort studies with extensive exposure data and biospecimens means that we have the potential to investigate the changing roles of genes, environment, gene:gene, and gene:environment interactions over the entire life span in population-based samples representative of the general Australian population.

A WA Genome Health Project is currently being planned, and will ultimately aim to collect detailed health data and biospecimens from all consenting members of the living population of Western Australia (n≈2 million people).

A critical component of our initiatives in these areas is our genREACH program to address ethical, legal, and social issues (ELSI) and to undertake community outreach. Our vision for genetic epidemiology in Western Australia mandates the ultimate involvement of the entire WA community, and a large part of our effort is directed at the community outreach necessary to engage and inform all sectors of our society about genetic epidemiology.

Together with the unique WA population-based health records, a WA Genome Health Project will establish the premier resource for human genetic research in the world in Australia, and will ensure Australia takes a leadership role internationally in human genetics, biotechnology and pharmaceutical development. We intend piloting the Joondalup Family Health Study in 2007, and are actively pursuing harmonization with other large biobank projects internationally. We anticipate that significant new initiatives and collaborations relevant to gene discovery, clinical and genetic epidemiology, new therapies, preventive medicine, and pharmacogenomics will ensue at the national and international level.

References

1. Holman CD, Bass AJ, Rouse IL, Hobbs MS. Population-based linkage of health records in Western Australia: development of a health services research linked database. Aust N Z J Public Health 1999; 23:453-9.
2. Croft ML, Read AW, de Klerk N, Hansen J, Kurinczuk JJ. Population based ascertainment of twins and their siblings, born in Western Australia 1980 to 1992, through the construction and validation of a maternally linked database of siblings. Twin Res 2002; 5:317-23.
3. Stanley FJ, Watson L. Methodology of a cerebral palsy register. The Western Australian experience. Neuroepidemiology 1985; 4:146-60.
4. Hansen M, Kurinczuk JJ, Bower C, Webb S. The risk of major birth defects after intracytoplasmic sperm injection and in vitro fertilization. N Engl J Med 2002; 346:725-30.