Human Variome Project



The Human Variome Project (HVP) is an international initiative to collect and curate in a global repository, data on all human genetic variation.

Inception
The HVP concept was conceived by Professor Richard Cotton, a leader in the field of human genetic variation. His group, the Genomic Disorders Research Centre, based at the University of Melbourne and St. Vincent's Hospital, has established a consortium that covers genomic variation and its health implications in a comprehensive form. This consortium has encouraged the creation and supported many of the 571 gene specific variation databases currently available on the internet. However, these databases are of varying completeness and individualistic, so the Human Variome Project was born to establish a central project to encourage the collection and sourcing of this data, verifying it and ultimately using it for improved health outcomes.

Geneticists, Diagnosticians, Researchers and Bio-informatics scientists came together in June 2006 at the Human Variome Project Meeting, organized by Professor Cotton’s team, and agreed take on the task of organising data collection and unifying the systems of data access and storage. This initiative builds on substantial pilot work and achievements of the Human Genome Variation Society. The authority of those initiating this project is evidenced by the fact that major international bodies were present. These included WHO, OECD, European Commission, UNESCO, March of Dimes (US), Centers for Disease Control and Prevention (US), Google, representatives of two dozen international genetics bodies, numerous genetics journals, 20 countries and Australian State and Federal Governments.

This major international project, a natural partner to the Human Genome Project, will require substantial funding to get it to a sustainable position. A five year secure budget period of approximately US$12m per year has been proposed to initiate the project. This will enable the project to be organized and find operational funds for the tasks of system development, informatics, database curation and clinical access as well as collection systems that are open and accessible to all.

The Human Variome Project seeks to provide open access to the full realm of genetic variation for the benefit of everyone.