The Human Variome Project 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.
In doing so, the Human Variome Project takes on four roles:
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.
The Human Variome Project is the only international organisation working in this space. It has a nation-based representative structure, a strong ongoing partnership with the United Nations Educational, Scientific and Cultural Organisation, and a focus on the ethical, legal and social issues in medical genetics and genomics. It is well placed to assist all nations build their knowledge and technical capacity in medical genetics and genomics.