Human Variome Project - HUGO International

Sharing data :: Reducing disease

The Human Variome Project

An NGO maintaining operational relations with the United Nations Educational, Scientific and Cultural Organisation (UNESCO).

Human Variome Project provides support services to the international coordination work of the Human Variome Project; an international non-governmental organisation that is working to ensure that all information on genetic variation and its effect on human health can be collected, curated, interpreted and shared freely and openly.

Learn more about the project

A global need requires a global solution

The need for a comprehensive global repository of genetic variation information that is freely and openly available has been recognised since the late 1980s. A number of groups have attempted to create such a repository in the past, with projects such as the Human Gene Mutation Database, Online Mendelian Inheritance in Man and a number of efforts at the US-based National Centre for Biotechnology Information and the European Bioinformatics Initiative. However, none of these efforts have been successful as they all are too locally oriented and fail to engage broadly with the entire community, thus limiting both their spheres of influence and their ability to collect data from a significant portion of the world’s population.

In 2006, all of these groups and a number of the world’s top geneticists, clinicians and bioinformaticians and representatives of the World Health Organisation, OECD, European Commission, United Nations Educational, Scientific and Cultural Organisation, March of Dimes Foundation, Centers for Disease Control and Prevention, some two dozen international genetics bodies, and numerous genetics journals met at a meeting in Melbourne, Australia. The delegates at this meeting recognised that the only way to address the global need for information was via a global initiative. This was the beginning of the Human Variome Project.

About The Human Variome Project

The Human Variome Project is an international non-governmental organisation that is working to ensure that all information on genetic variation and its effect on human health can be collected, curated, interpreted and shared freely and openly.

The Human Variome Project provides a central coordinating function for national and international efforts to integrate the collection, curation, interpretation, and sharing of information on variation in the human genome into routine clinical practice and research. We are an active and growing Consortium of over 1,100 individual researchers, healthcare professionals, policy makers, and organisations from 81 countries that collaborate to develop and maintain the necessary standards, systems and infrastructure to support global-scale genomic knowledge sharing. The Project itself is not directly involved in the development and operation of physical data storage and sharing infrastructure; that is the responsibility of international disease groups, national consortia/health systems and individual members. Rather, the Project exists to assist these groups by:

Collaboratively developing technical standards and harmonised, common approaches so that data from different sources can be easily shared in an interoperable manner that is sensitive to the ethical, legal and social requirements of both the data sources and consumers;
Coordinating an international platform to facilitate discussion of genomics in global health with the aim to foster necessary professional interaction and debate in the area of genomics, global health, service delivery, and safety;
Linking world leading professionals and institutions with genomics professionals, researchers, and academics in all parts of the world, facilitating knowledge exchange and interactive debate;
Establishing a global evidence base for knowledge sharing in medical genetics and genomics and bringing relevant issues to the attention of Ministries of Health, Science and Technology, and Education.

Vision & Mission | The Human Variome Project

Vision Mission

The Human Variome Project Consortium envisions a world where the availability of and access to genomic variation information is not an impediment to diagnosis and treatment; where the burden of disease on the human population is significantly decreased; and where the sharing of genomic variation information is standard clinical practice.

If that envisioned future was today – that is, if all the current global data on genetic variations effecting human disease was able to be collected and shared immediately, then many, many millions of the world’s people and their families would benefit from the faster diagnosis and the more accurate prognosis of their disease and the better treatments this information can be used to create.

That envisioned future is not today, but by working together towards this Vision, it can become a reality much sooner than we think.

It is the mission of the Human Variome Project Consortium to establish and maintain the standards, systems, and infrastructure for the responsible collection and free and open sharing of information on all genomic variations.

Activities

The Human Variome Project exists to foster communication and collaboration around its central vision: the free and open sharing of genetic variation information to improve public health. We work to ensure that access to information on the changes in our genomes and their effect on the human body is not an impediment to diagnosis and treatment, regardless of where you live or how much you earn.