The amount of produced genomic data is outstanding nowadays (petabytes of genomes sequenced every day). If these data are available within the scientific community the possible achievements are endless.

A good example is rare diseases. These diseases, with a very low prevalence within a population, can be studied more in detail when all the available data and knowledge is gathered from all around the world and put all together in the same place. Here is when the European Genome-Phenome Archives (EGA) acts as the referencing storage space and distribution of these data.

Currently, the EGA archives data from more than 700 scientific studies for several different diseases, such as cardiopathies, cancer, Alzheimer’s, diabetes… These data come from 200 research groups all over the world that makes a fundamental resource to focus on personalized medicine.

The access to these data is free and via computer. However, it requires submitting data from each scientist and research group that wants to archive or download these data, as well as a strict Data Access Committee (DAC). The aim is the good use of the information and the maximum confidentiality of these data from human donors.

In order to discuss the future impact of healthcare worldwide, a meeting took place in CosmoCaixa this past Friday, April 13th. During this meeting, several scientists related to genomics data and health research, shared their point of view concluding the session with a roundtable for identifying and pinpointing both challenges and hopes of genomic data and health.