Human Variome Project

The Human Variome Project comprises an international consortium of scientists and health professionals working to improve global health through free and open sharing of genetic variation information.

The project acts as an umbrella organisation across different countries, institutions and initiatives. It works to encourage communication and collaboration, with the aim of improving global health through sharing of genomic knowledge.

Francis Collins, US director of the project, describes it as a “shop manual with an incredibly detailed blueprint for building every human cell. And it’s a transformative textbook of medicine, with insights that will give health care providers immense new powers to treat, prevent and cure disease.”

Collins said those working in the field of variomics were trying to determine what happens when a person’s personal copy of that manual has a mistake.

In 2010, a not-for-profit Australian public company called Human Variome Project International Limited was established to take over as the international coordinating office, which manages the day-to-day operations of the project.

Among other issues, the office is responsible for tracking and communicating the progress of the project; providing support to the interest groups and working groups participating in the project's standards development process; disseminating standards and guidelines developed through the process; and communicating progress to the scientific and lay communities, and educating the public on the importance of understanding genetic variation.

Collins said that for people living in developed countries with robust health systems, the single largest determinant of health was their genes. Genes played a role in nine out of the 10 top causes of death in most developed countries.

And while genetic diseases were commonly associated with diseases of childhood – cystic fibrosis, Down syndrome, phenylketonuria – genes played a role in health at all stages of life, he said.