The 4th Biennial meeting of the Human Variome Project (HVP) at UNESCO in Paris kicked off on Monday 11th June with announcements of some notable achievements. One was the official partnering of the HVP with UNESCO. Another was the signing of an agreement to bring China on board as an addition to the 12 existing country nodes, and the first core member of the HVP. Why are these achievements of particular relevance to our work at DPP?
First some background to the project.
The complete sequencing of the human genome in 2003 was a triumph of the human genome project. As well as revealing some vital clues as to our heritage and genetic make up, it created a reference for the further study of variation and genetic disease. The next step is to understand the variations in the human genome (of which there are about 1.5 million), as these drive evolution, introduce phenotypic variability and cause disease. Technological advances, and in particular, next generation sequencing, means that sequencing genomes can now be done in days rather than years, and for a few thousand dollars instead of several billion. As technology, expertise and knowledge progress together in the area of genomics, we are gradually building a platform for the better management of genetic disease, development of new diagnostic technologies, and possibly personalized medicines and therapies.
Many hundreds of population and gene specific databases that map genetic and phenotypic variation, exist across the world. Much information on variation and disease biomarkers has also been published in various medical journals. This work is very often are unlinked and therefore underutilised. Scientists working in one part of the world on a specific disease, gene or phenotype, might be unaware relevant work that may have been done in another part of the world. The goal of the HVP is to standardise, collate and make these databases useful and freely available to all through the establishment of collated gene specific databases and national nodes which coordinate efforts in each country.
The meeting of approximately 140 consortium members in Paris brought to light the difficulties currently faced by the HVP as it strives to achieve its goals. These include; the technical difficulties in creating an IT platform for database integration, the lack of consensus in deciding on which of the various disease ontologies to use, how to reduce duplication and inaccurate data submitted to databases, deciding whether, what and how standards could be implemented and enforced, the need for dedicated medical bio-informatitions and curators, and so on.
A critical problem discussed is the need to create a means for financial sustainability given the voluntary nature of the work. Clinicians and diagnostic lab staff volunteer their time to contribute to the HVP and other databases. Given that it is a massive undertaking to collate and make available all major genetic variants, volunteer time will go only so far. The HVP is an international project and so governments are reluctant to shoulder the financial burden. UNESCO as an international governance institution and a partner to the HVP can play a significant role in advocating data sharing and leveraging funds from national governments and other sources. The role of international governing bodies in advocacy and regulatory harmonisation relating to biotechnology has long been a part of DPP’s and Innogen’s work.
Another major hurdle is the need for capacity building in the global south. Genetic variation and genetic disease happens everywhere. For science communities in developing countries to contribute to, and utilise genetic and phenotypic databases, there is a need to build capacities relating to expertise (e.g. bioinformatitions, genetic councellors), public and practitioner awareness, national regulatory frameworks (use and sharing of data, consent practices), sequencing and IT relevant infrastructure. China has made a commitment to not only support and develop over 5000 national databases contributing data from 56 ethnic groups, but has pledged significant funding to facilitate capacity building projects more widely in the global south.
But for me the highlight of the conference was the keynote speech by Sir David Weatherall, who perhaps is to geneticists what Douglas North is to economists. Sir Weatherall spoke about his work in haemoglobin disorders which are significant problems in Sub-Saharan Africa, South and East Asia, but also about the expansion of North-South partnerships and the evolution of South-South partnerships. He concluded with two main recommendations. One, the need to educate the governments of developed countries and NGO’s, to make them aware of the cost effectiveness of partnerships in tacking certain medical disorders. And two, the need to change medical education so that a new generation of researchers and clinicians become interested in the issues that effect developing countries.