An ambitious project to log all genetic variations that cause human disease lunged forward this week with the launch of the Chinese “node” of the Human Variome Project (HVP). Scientists and clinicians in China meanwhile are hoping participation will spread genetic counseling and genetic medicine at home.

The launch came in Beijing during a five-day meeting of the members of the Australia-based HVP consortium.

The goal of the HVP is to characterize disease-causing mutations in all human genes by collecting genetic data from all corners of the world and putting that data into gene-specific and disease-specific databases. Aside from HVP, there are already more than 1,800 such databases.

But HVP coordinators say that isn’t enough. “We want to encourage the creation of more, and improve the existing ones, to eventually cover the entire genome,” says Timothy Smith, a spokesperson for the project.

But for many reasons, including funding shortages, legal restrictions, and inconsistencies among analysis techniques, comprehensive data is difficult to come by. HVP wants to increase submission rates by encouraging scientists in different countries to work with their national genetics societies to create “nodes”—secure repositories of all the genetic variants being discovered in the diagnostic laboratories of individual countries that make the transfer of data from lab to international databases easy and ensure that this happens in a manner that is compliant with local laws.

In January, China gave the project a massive boost with a pledge to take on a quarter—roughly 5,000—of the 20,000 or so genes expected to be involved in disease with a US$300 million investment over the next 10 years. The funding will be distributed among hospitals for collecting clinical data and training personnel and to several genome centers for genotyping, data analysis, and database maintenance, says Ming Qi, director of the Center for Genetic and Genomic Medicine at Zhejiang University Medical School in Hangzhou and leader of the Chinese initiative.

The diseases and genes to be targeted by that funding was a key topic at this week’s meeting. HVP members formed a special subcommittee to draw up a list of priority areas for deciding on which genes will make up the 5,000 genes for which China takes responsibility. (So far, China was recognized as having a strength in neurological disorders, cardiac disease, and cancer.)

There are now 12 Nodes (Austria, Australia, Belgium, China, Cyprus, Egypt, Greece, Kuwait, Malaysia, Nepal, Vietnam, Spain). Other countries, including the Philippines, UK, US and South Africa, had representatives at the meeting.

One of HVP’s main goals in China and, in the future, in other developing countries, is to develop capacity for medical genetics, genetic testing, and genetic counseling. “Medical genetics is still not a clinical specialty in China yet, that means no training, no certification, and no regulation,” says Qi.

“It has been the dream of our Chinese medical genetic professionals to establish a national clinical practice system of medical genetics. The Variome Project should help us fulfill this since we have to develop formal training and quality control,” adds Qi.

HVP hopes to expand. China’s funding will also be used to help other developing countries develop their capacity, says Qi. Backing from UNESCO this July will also help, says Smith. “In the very near future we will be embarking on a number of educational projects within developing nations aimed at building capacity around medical genetics, genetic testing and genetic counseling, similar to what we are now doing in China, and the networks and resources of UNESCO will play a huge role in this.”

The meeting gave some idea of how the programme will progress. The International Society for Gastro-intestinal Hereditary Tumours reported on efforts to integrate three separate colon cancer datasets. An “interpretation committee” pondered whether specific variants of unknown significance are disease-causing or benign. “We are working to get other disease database groups to adopt a similar process,” says Smith.

The most significant outcome of the meeting might merely be the show of support from the Chinese side, after an HVP meeting scheduled for September in Beijing was suddenly canceled. Dozens of CEOs from Chinese hospitals, a Director-General of the General Administration of Quality Supervision, Inspection, and Quarantine, a Counselor of the State Council, and 3 former vice ministers of health showed up. The current Minister, Zhu Chen, invited the meeting’s chairman, Richard Cotton, to dinner.

“The Chinese government firmly supports this international project,” says Qi.