It has been estimated that 60% of people will be affected by genetic variation at some point in their lives. In Victoria, Australia, genetic disorders account for 40% of all paediatric admissions and 30% of premature deaths. In America, 71% of paediatric admissions have a genetic basis. Due to this massive health problem, doctors all around the world need access to accurate, curated genetic data with associated clinical information in order to reliably diagnose, treat and inform their patients.

The Human Variome Project is the global initiative to collect and curate all human genetic variation affecting human health. The Human Variome Project's mission is:

to improve health outcomes by facilitating the unification of data on human genetic variation and its impact on human health.

The Human Variome Project is pursuing this mission by creating systems and standards for the storage, transmission and use of genetic variation information. Coordinated from Melbourne, Australia, the Human Variome Project's activities are distributed among 14 Key Action Areas, each of which is administered by an HVP Working Group. HVP Working Groups are responsible for producing recommendations for systems, standards and processes.

Researchers all around the world are involved in pursuing the vision of the Human Variome Project through its network of Country Specific Nodes.

The Human Variome Project will bring the fruits of the Human Genome Project to impact upon healthcare and create a global resource for clinicians, researchers and those patients affected by a genetic disorder. Two out of three people will be affected by a gene variation at some time in their lives. That is why it’s essential that we document and share all we know about these variations and their effect on humanity.