Thursday, December 10th
The likelihood of developing a particular disease, and its specific expression in an individual varies according to multiple factors (including age, sex, lifestyle, environment, as well as physiological and molecular variables). Thanks to rapid technological progress, human genomics data is transforming the way medicine is practiced, with strong impact in specific fields, such as diagnosis of rare diseases or treatment of specific types of cancers. Medical genomics is therefore an emerging discipline that involves using genomic information about individuals as part of their clinical care, such as diagnosis, prognosis or tailored treatment strategies. Overall, medical genomics requires strong collaboration between research institutes and hospitals.
To make medical genomics a reality for many different diseases, it is crucial to preserve and share human genomics data in repositories ensuring long-term, secured and high-quality data storage solutions. The European Genome-phenome Archive (EGA, https://ega-archive.org/) is a permanent archive that promotes the distribution and access to personally identifiable biomolecular and phenotypic data resulting from more than 1700 biomedical research projects. The EGA follows strict protocols for information management, data storage, security, sharing and dissemination. Authorized access to the data is managed by the data-providing organizations. The EGA includes data collections from very diverse studies, such as large-scale array-based genotyping experiments on thousands of samples in case-control or population-based studies, or sequencing-based studies designed to understand changes in the genome, transcriptome or epigenome in both normal tissue and various diseases such as cancer.
Currently hosting data from more than 1,700 biomedical research projects, the EGA is moving towards a federation model that will ease data discovery for clinicians, who will be able improve the way their patients are diagnosed and treated, as well as improve the value of the genomic data they have generated.
Aims of the workshop
The main aim of the workshop is to raise awareness and generate debate among the medical and translational research community in Spain about the importance of integrating genomics data in healthcare, including current challenges, needs, and future opportunities, in order to push forward genomic medicine in Spain.
The event will present several tools helpful to interpret the data, and describe concrete research projects that have made impactful discoveries using genomics data and that helped patients. The workshop specifically addresses the importance of depositing, preserving, and securely sharing genomics data in specialized repositories with long-term commitment, such as the EGA or other more geared to individual patient data.
The workshop is specifically addressed to clinicians who use or will use genomics data in their practice, translational researchers, and all those researchers in biomedicine.
- Michela Bertero, CRG, Barcelona, Spain
- Sira Martinez, CRG, Barcelona, Spain
Begoña Aguado. Centro de Biología Molecular Severo Ochoa (CBMSO) CSIC-UAM, Madrid ESna ES
Lluís Armengol. QGenomics. Barcelona, Spain
Carmen Ayuso. Hospital Universitario Fundación Jiménez Díaz, IIS-FJD, UAM, Madrid ES
Joaquin Dopazo. Public Health System of Andalucía. Seville, Spain
Julián Isla. European Dravet Syndrome Foundation. Madrid, Spain
Jordi Rambla, CRG, Barcelona ES
Arcadi Navarro. IBE. Barcelona, Spain
The workshop is jointly organized by La Caixa and the CRG, including the CNAG-CRG, and supported by Elixir Spain.