Human Genome Organisation

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. 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. 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. 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 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.