Disparate populations, international collaboration

The Human Genome Project and associated research, together with major initiatives in health information technology, are set to create new and exciting advances in healthcare. The fuel for such advances will reside in large 'banks' of information known as biobanks.

These giant libraries will document the health, genetic and lifestyle status of as many human populations as possible. A progress report on three of the largest population-based biobanks - in Western Australia, Canada and the UK, as well as three smaller projects in Japan, Estonia and West Africa - will be discussed at the ICHG.

Dr Thomas Hudson, an internationally renowned genome scientist from McGill University in Canada, will overview the huge Public Population Project in Genomics, or P3G initiative. P3G is an international consortium created for the understanding, prevention and treatment of chronic diseases. Its aim is to capitalise on the emerging knowledge base and technologies developed by the Human Genome Project, the International HapMap Project and other international endeavours.

Environment and genomes will be compared across a huge cohort to build a detailed encyclopaedia of health risk factors that predispose to disease, such as diet, chemical exposures and genetic differences. P3G will require millions of participants across the world, some healthy and others with one or more chronic diseases. P3G is therefore mandated to hybridise the large population genetic studies and biobanks happening in many countries into one source.

"500,000 participants is only just big enough to investigate the most common of complex human diseases, and hybridisation of biobanks, coordinated by P3G, is crucial for their real value as an entity," the UK Biobank's Professor Paul Burton says.

WA genome health project

Professor Lyle Palmer, who heads the Laboratory for Genetic Epidemiology at the WA Institute for Medical Research in Perth, undertook graduate research in population genetics that uncovered two new genes linked to asthma, using data from the highly successful Busselton health study, which has run since the 1960s and is one of the most important such population databanks in the world.

At the congress, Palmer will talk about the Western Australian Genome Health Project, a planned biobank containing DNA samples, health data and biospecimens from all consenting members of the living population of WA. A multi-disciplinary team at UWA will use the data to investigate determinants of complex human diseases and explore ways of using such genomic information to improve human health.

In addition, the bank will provide a national and international resource for genetic epidemiology that will build on the unique WA population health data collected and managed over the last three decades as well as population information going back over 100 years.

Palmer will discuss a large pilot study set to start next year, in which over 3000 health parameters and samples will be collected from 80,000 West Australians at regional hospitals and mobile units, at a cost in excess of $40 million.

"We have recently completed an extensive program of community outreach that has shown strong support for this project," Palmer says. "We anticipate that significant new initiatives and collaborations relevant to gene discovery, epidemiology, therapeutics, preventive medicine and pharmacogenomics will ensue at the national and international level."

How big is big?

This session will resemble a reunion in some ways as one of the other speakers, Paul Burton, spent eight years working at the Institute for Child Health Research in WA in the 1990s and was one of Palmer's PhD advisors for some of that time.

Burton is currently head of the Genetic Epidemiology Unit at the University of Leicester. At this meeting, Burton will overview UK Biobank and will ask how big is 'big'.

Once up and running by the end of this year, UK Biobank will constitute one of the world's biggest resources of its kind, with half a million participants aged between 45 and 69 years. It will be a cohort study collecting blood, lifestyle details and basic medical data to create a national database of unprecedented size.

The session will also highlight three smaller biobanks. Andres Metspalu, of the Estonian Biocentre at Tartu University and a co-chair of the session, will speak about the Estonian Genome Project (EGP), which was established several years ago with health data and biological samples from a large portion of the Estonian population for use in biomedical and genetic research. The EGP, importantly, has strong public support and is one of the founders of the P3G consortia.

Dr Yusuke Nakamura from the University of Tokyo and the SNP Research Center, RIKEN, in Japan will also present on Biobank Japan, which started in 2003. DNAs, sera and clinical information is being collected from 300,000 patients with at least one of 47 common diseases. By March 2007, the general aim is to identify genes associated with common diseases and to establish personalised treatments.

Finally, Giorgio Sirugo from the Medical Research Council Laboratories in Gambia will report on that country's plan for a DNA biobank. This is the first such project undertaken in Africa, with over 40,000 DNA samples already collected.

According to Burton, each biobank is just one element of an international network of harmonised biobanks. The great challenge, he says, will be to understand and successfully articulate the science that biobanks will address, much of which is yet to be finalised.