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Delegates of the 4th Biennial Meeting of the Human Variome Project Consortium

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 and 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 consortiums/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, and 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.

A global need requires a global solution

Changes in our genome, both small and large, are a fact of life. They drive evolution, constantly introducing phenotypic variability into the population, ensuring that we, as a species, can adapt to changing environments. However, this same process can also cause disease and illness. In the most obvious instances, and the most devastating, these diseases are diseases of childhood: cystic fibrosis, muscular dystrophy, Tay-Sachs disease, to name a few; but our genome also plays a role of some sort in every disease and disorder known to mankind. 

Yet, despite the extent of its involvement in determining our health, there is still too much that humankind does not know about our genome. What is worse, when we find out new information, we rely on antiquate methods to share it: articles in medical journals, presentations at conferences, or we just don't share it at all.

This means that the ability of even most developed countries to deliver quality healthcare based on genomic knowledge is not as good as it could be. In low- and middle-income countries, the situation is even more dire.

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.

No one organisation or country can do this alone. As the United Nations Educational, Scientific and Cultural Organisation’s 1997 Universal Declaration on the Human Genome and Human RightsUniversal Declaration on the Human Genome and Human Rights reminds us, “The human genome underlies the fundamental unity of all members of the human family…” The human genome is common to all humans, regardless of country of origin, race, creed or religion. The effect of a particular variant on the progressions of the disease in a patient in Australia is useful information to patients with that same disease and that same variant in every other country of the world. This necessitates a global, coordinated response to the problem of sharing genetic variation data.

Additionally, each country has its own needs when it comes to delivery genetic healthcare to its citizens, and each must comply with local laws, regulations and cultural mores. The Human Variome Project acts as an umbrella organisation, actively engaging with partners and stakeholders in each country to ensure that genetic variation information, generated during routine diagnostic and predictive testing is collected and shared in the course of routine clinical practice, as well as to provide opportunities for training, education and capacity building.