The Western Australian Genome Health Project Prof Lyle Palmer

1. The Western Australian Genome Health Project Prof Lyle Palmer

2. Why do large cohort studies? • Rising incidence of common diseases • Causes are unknown - small effects are hard to detect • Explosive growth in new technologies • Human Genome Project • Genomics and biomarkers • New potential to understand causes and treatments for common diseases • Requires large, population-based samples

3. An ageing population, a less healthy population Source: WA Department of Health, Finance Directorate

4. An unsustainable health system Public Health Expenditure History Source: WA Department of Health, Finance Directorate

6. "We have long known that the tendency to sit down and eat the whole goddamn bag runs in certain families," said team leader Dr. Edward Alvaro. "However, until we completed our work, we weren't sure whether the disposition to cram chips down your greasy gullet was genetic or whether it was a behavioral trait learned from one or both parents. “

7. Individual and population risks

8. Total cohort 1000 HLA-B*5701- HLA-B*5701+ 915 85 4(0.4%) CASES 69(81.2%) 911 (99.6%) 16 (18.8%) CONTROLS Predictive Value of Genetic Testing(WA HIV Cohort Study Data) *ABC HSR prevalence reduced from 7.3% to 0.4%*

9. Population-based human genome epidemiology (HuGE) in Western Australia

10. Commonwealth Primary care Pharmaceuticals Aged care Families Births Deaths Marriages Core system WA Govt Road Safety Community Development Education Justice Disability Services Child Health Birth defects Cerebral Palsy Child surveys Birth cohorts NGOs Blood transfusions Silver Chain Ambulance Genetic Epidemiology Research data registers Biospecimen registers WA Twins Register Geocoding WESTERN AUSTRALIAN RECORD LINKAGE PROJECT 2006 Birth Registrations Death Registrations Marriage Registrations Hospital Separations Mental Health Clients Cancer Notifications Midwives’ Notifications Emergency Presentations Electoral Roll

11. FAMILY CONNECTIONSGENEALOGICAL DATABASE PHASED DEVELOPMENT: • Electronic data • birth certificates from 1974 (parents); 25,000 p.a. • Electronic marriage certificates from 1984 (parents of both parties); 9,500p.a. • Electronic death certificates since 1969 (parents and children); 10,500 p.a. • Paper registrations of earlier births, deaths and marriages in WA (to ~1840). • Public appeal and approach by letter.

12. Ethics and the Use of Identified Data Changing focus: Is it ethical not to use a data linkage system? (Trutwein et al. Annals of Epidemiology 2006;16:279-80)

13. Core Infrastructure www.genepi.org.au

14. Contemporary, metropolitan version of Busselton Health Study / Framingham HS • Focus on families • Focus on health of adultsandchildren • Sample size: ~80,000 people. • ~3,500 Measures/person: e.g., lifestyle data; lung, heart, eye function; obesity measures; blood. • Repeated follow-ups. • Community outreach ongoing.

15. What will we use this resource for? • Families and general population • Social, environmental and genetic determinants of health and disease • Genes and environment • Health economics • Enabling biotechnology • Family Health Study as a large national initiative • Prevention, diagnosis, and treatment of illness • Health promotion • Intervention • Empower communities and individuals to take responsibility • Education / e-medicine • Community engagement and debate

16. The Bigger Vision… • Why Western Australia? • We can do this effectively, quickly and cheaply • Long history of population-based research. • Integration of government, hospitals, and academia. • Building upon 30 years of population-based health data - the best linked medical databases in the world. • Geographically isolated, outbred population of ~2 million people with relatively low net migration rates. • Historically large families (settlers) • Population is representative of Australian General Population. The Western Australian Genome Project DNA and health data from 2 million living Western Australians

17. Community outreach 2005 • Survey of all metro GPs • Community survey of 7,500 Joondalup residents • Information brochure to every Joondalup household • People’s Forum 2006: • Major public events • Schools • ‘Genes and GPs’ • Visiting scholars • Further surveys www.jfhs.org.au

18. “ In the late 20th century, scholars and politicians posed a key question ‘What desires and needs do you have as an autonomous rights bearing person to privacy, liberty and free enterprise?’ Now it is important to ask another kind of question ‘What kind of community do you want and deserve to live in, and what personal interests are you willing to forgo to achieve a good and healthy society?” Prof Lawrence O Gostin University of Washington DC

19. A Moon Shot “But why, some say, the moon? Why choose this as our goal? And they may well ask why climb the highest mountain?... We choose to go to the moon. We choose to go to the moon in this decade and do the other things, not because they are easy, but because they are hard, because that goal will serve to organize and measure the best of our energies and skills, because that challenge is one that we are willing to accept, one we are unwilling to postpone, and one which we intend to win... ” John F Kennedy, 1962

21. …but which mediator(s) is the rate-limiting step? …and which pathway might we want to meddle with to improve outcome??