The Project Roadmap 2010-2012 has been prepared by the Coordinating Office of the Human Variome Project as a guide to the activities of the Human Variome Project for the short term future. This document serves multiple purposes. It:

• clarifies the definition of the Human Variome Project;
• outlines an overarching strategic vision for the Human Variome Project; documents the new internal structure for the Human Variome Project Consortium; and
• outlines several internal processes for the creation and adoption of Standards, Guidelines and affiliated projects.

Executive Summary

Worldwide acclaim met the complete sequencing of the human genome; not only because a significant mountain had been climbed but because we now possessed the potential to simplify the analysis of both common and inherited disease. The next frontier is the discovery and documentation of all variations present in human genes so that the results of the Human Genome can be put to practical use treating disease. The Human Variome Project can make this happen. It has the potential to be the single most effective means of eradicating human suffering in the 21st Century.

Vision

The vision of the Human Variome Project is to be a catalyst for reduction in human disease in the 21st century by facilitating the establishment and maintenance of standards, systems and infrastructure for the worldwide collection and sharing of all genetic variations effecting human disease.

The Human Variome Project is an international consortium committed to reducing the burden of genetic disease on the world’s population. We believe that the collection of information on every instance of a genetic variation and its affect on human health is the only way that our vision can be achieved. The sharing of information on genetic variation and its consequences allows existing treatments to be delivered more effectively to patients and new treatments and cures to be developed.

Strategy

To ensure the complete capture of all human genetic variation, the Human Variome Project is focussed on collecting information through two separate, yet complementary, channels: country specific collection and gene/disease specific collection.

Through a network of HVP Country Nodes, created in partnership with Human Genetics Societies in individual countries across the globe, the Human Variome Project is not only ensuring the comprehensive capture of data directly from diagnostic testing laboratories in a manner that is compliant with each country’s existing ethical and legal requirements, but is also creating a vital resource for medical research and healthcare provisioning within each country. HVP Country Nodes are data repositories that are run, managed and funded within each country, so control of the data contained within them maintained at the local level. Yet through a system of data sharing agreements negotiated within the Human Variome Project context, core elements of those data are shared with other repositories, ensuring open and equitable access to potentially life-saving information.

The second channel of data collection the Human Variome Project is supporting is via the many existing gene/disease specific databases. These databases gather and, most importantly, expertly review data from numerous sources, including the published scientific literature, diagnostic and research laboratories and also via direct submission by interested members of the scientific community. Gene/disease specific database provide an invaluable step in the data lifecycle, providing expert review and curation of data.

The Journey from Here

The needs of the Human Variome Project, in terms of structure and governance are evolving and the existing committee structure is reaching the end of its useful life. To meet the challenges of the next few years, and to enable the Human Variome Project to achieve its lofty goals, a new internal structure is required.

The Human Variome Project will become an incorporated entity with an international Board of Directors that is charged with setting the strategic direction of the Project and ensuring that it remains in a position to reach its full potential. An international Scientific Advisory Committee will be formed, ensuring that the views and expertise of the scientific community are represented. This Scientific Advisory Committee will in turn be advised by two Advisory Councils, each representing one of the two areas of focus of the Human Variome Projects: country specific collection and gene/disease specific collection.

Human Variome Project International Limited, an Australian public company limited by guarantee (a not-for-profit company with no shareholders) will be incorporated immediately prior to the 3rd Human Variome Project Meeting in May, 2010. This company will be managed by an interim Board of Directors appointed at the time of incorporation. At the 3rd Human Variome Project Meeting, an interim Scientific Advisory Committee will be elected to effect the implementation of the Human Variome Project Consortium’s internal structure and activity process.

In parallel to these efforts, the work of the Human Variome Project will continue unabated. The Coordinating Office and the HVP Working Groups will continue to facilitate the creation of HVP Country Nodes and gene/disease databases, as well as develop and expand existing databases. Data sharing plans between gene/disease specific databases and the central data repositories will continue to be developed.

By the end of 2012, the Human Variome Project will have facilitated the establishment of country-specific collection systems in five countries around the world and will have shared information on 100,000 individual cases of inherited disease. By the end of 2015, the number of countries will have risen to twenty, with information on over a million cases of genetic disease shared.