Genetic European Variation in Disease

The GEUVADIS project brings together 17 European and American leading medical genome sequencing laboratories to define technological and ethical standards, and to promote multidisciplinary training for the global scientific and medical community.

Our genes determine how our body functions – or malfunctions. Understanding genes will help us to identify the best way to treat people for disease, and to discover new medicines. But obtaining, reading and interpreting the 3,000 million-letter code of the human genome in each individual has been a difficult journey. First, researchers pointed to millions of variable ”spots” in our genome, and discovered their association with disease. Today, advanced sequencing technologies have revolutionised the field by allowing us to read in detail and analyse the complete sequence of individual genomes, in an ever-faster and cheaper manner.

A growing number of research projects have flourished in response to the increasingly rapid evolution of these technologies, which has led to an unprecedented surge in new biological data. Notably, GEUVADIS investigators are participating in two large-scale sequencing projects: the 1000 Genome project and the International Cancer Genomics Consortium. These projects are analysing thousands of samples from different populations and disease status. The production of this large amount of data poses major challenges that the GEUVADIS consortium is tackling in Europe.

First, the quality and accuracy of the data produced needs to be thoroughly determined in order to translate this information to the clinical arena. Second, the release of all this data to the research community, and – in a global format – to the public, raises the scale of ethical, legal and social reflection: How can we ensure that the privacy of individual patients is protected as sequencing becomes cheaper and more available? How can we make optimal use of this technology improve prevention, diagnosis and treatment of diseases while respecting freedom of choice and mutual respect?

Xavier Estivill