Human Variome Project update

19 November 2008

Progress with the Human Variome Project, a collaborative global initiative that seeks to improve health by bringing together data on human genetic variation and its impact on human health (see previous news) have been published in the journal Science. Specifically, the project seeks to collate and curate existing and emerging data on all specific genetic variations known to affect human health (including rare genetic disorders and forms of common disease), and make it available for clinicians and researchers, facilitating the development and practice of evidence-based genetic medicine. This aim is very much in keeping with the practice of public health genomics, which incorporates knowledge integration across different disciplines as a key process to support the evaluation of evidence to support improvements in population health.

Of the more than 20,000 human genes that have been successfully sequenced, information on variations associated with health effects is available for only around 3,000, but this figure is expected to rise dramatically as research in this area expands. The project is supported by the WHO, UNESCO and OECD member countries; there is ongoing input of data from international resequencing projects and genomewide association studies (GWAs). As well as collating this information, the Human Variome Project is developing standards for the storage, communication and application of genetic variation information, providing a single globally accessible resource for exploring the links with health and disease. It will also investigate means by which developing countries can participate with the initiative.

Lead author Professor Richard Cotton of the Genomic Disorders Research Centre in Melbourne, Australia (the co-ordinating centre for the Human Varione Project) commented: "There is a staggering error rate of up to 40 percent in some reporting of genetic variations…This means clinicians and specialists cannot solely rely on the research literature to inform the life and death decisions of diagnosis and prognosis of genetic disorders" (see press release).

The new policy forum article sets out pilot projects across the world examining how relevant genetic, clinical and biochemical data can be gathered and organized in a country-specific or gene-specific manner [Cotton RG et al. (2008) Science 322(5903):861-2]. It cites the example of a pilot examining specific genes involved in predisposition towards colorectal cancer. Co- author Professor Finlay Macrae of the University of Melbourne Department of Medicine observed: "Genetic predispositions to colon cancer are now well recognized. Testing for mutations in some of these genes is critical to establishing risk for bowel cancer in some families. However, the information needed to interpret mutations is widely scattered and not readily available"(see press release). InSiGHT, the International Society for Gastrointestinal Hereditary Tumours, is reportedly developing systems that will allow the low-cost collection of data on rare mutations and common variations in the four mismatch repair genes from laboratories and hospitals in different countries.

Barriers to and strategies for establishing a neurogenetic disease database are also set out, proposing that international, multi-disciplinary, disease-centred networks could be established to integrate information from different databases and develop common guidelines and systems. The paper also raises the idea of industry and patient-support group sponsorship for data curation initiatives, which is being pursued through an Adopt-A-Gene Program.

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