• Biologie

  • Ressources et infrastructures

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future

Cet article présente le consortium américain "Electronic Medical Records and Genomics Network" qui développe des méthodes et des recommandations pour l'usage de dossiers médicaux électroniques à des fins de recherche en génomique

The Electronic Medical Records and Genomics Network is a National Human Genome Research Institute–funded consortium engaged in the development of methods and best practices for using the electronic medical record as a tool for genomic research. Now in its sixth year and second funding cycle, and comprising nine research groups and a coordinating center, the network has played a major role in validating the concept that clinical data derived from electronic medical records can be used successfully for genomic research. Current work is advancing knowledge in multiple disciplines at the intersection of genomics and health-care informatics, particularly for electronic phenotyping, genome-wide association studies, genomic medicine implementation, and the ethical and regulatory issues associated with genomics research and returning results to study participants. Here, we describe the evolution, accomplishments, opportunities, and challenges of the network from its inception as a five-group consortium focused on genotype–phenotype associations for genomic discovery to its current form as a nine-group consortium pivoting toward the implementation of genomic medicine.

Genetics in Medicine , article en libre accès, 2012

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