Electronic Medical Records And Genomics Network

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Electronic Medical Records and Genomics (eMERGE) Network

The Electronic Medical Records and Genomics (eMERGE) Network is a national consortium formed to develop, disseminate, and apply approaches to research that combine biorepository data and electronic medical records (EMRs). Established by the National Human Genome Research Institute (NHGRI) in 2007, the eMERGE Network aims to explore the potential for genomic information to improve health care and enable precision medicine.

Overview[edit | edit source]

The eMERGE Network integrates DNA biorepositories with electronic medical record (EMR) systems for large-scale, high-throughput genetic research. By linking genotypic information with phenotypic information from EMRs, eMERGE seeks to uncover meaningful correlations between genetic variations and medical conditions. This integration facilitates the identification of genetic predictors of disease and potential therapeutic targets, thereby advancing personalized medicine.

Goals[edit | edit source]

The primary goals of the eMERGE Network include:

  • To identify genetic variants associated with human disease through EMR-based phenotyping.
  • To investigate the challenges of integrating genomic data into EMRs for clinical care.
  • To address ethical, legal, and social implications (ELSI) related to genomic findings and their incorporation into medical practice.

Components[edit | edit source]

The eMERGE Network is composed of multiple components, including:

  • Participating Sites: A consortium of medical research institutions across the United States that contribute genomic and EMR data.
  • Centralized Sequencing and Genotyping Facilities: Facilities that provide high-throughput DNA sequencing and genotyping services for network participants.
  • Coordinating Center: A central hub that facilitates collaboration, data sharing, and methodological standardization across the network.
  • Phenotyping Algorithms: Computational methods developed to accurately identify clinical phenotypes from EMR data.

Achievements[edit | edit source]

Since its inception, the eMERGE Network has made significant contributions to genomic medicine, including:

  • The development of novel phenotyping algorithms that enable the extraction of detailed clinical phenotypes from EMR data.
  • The discovery of genetic variants associated with a variety of diseases, such as heart disease, diabetes, and cancer.
  • The implementation of pilot projects to integrate genomic risk assessments into clinical care.

Challenges and Future Directions[edit | edit source]

The integration of genomics with EMRs presents several challenges, including data privacy concerns, the need for standardized data formats, and the potential for genetic information to influence medical decision-making. The eMERGE Network continues to address these challenges through ongoing research and policy development.

Future directions for the eMERGE Network include expanding the diversity of its genomic and EMR data, enhancing data sharing and interoperability among participating sites, and exploring innovative ways to use genomic information in clinical practice.

See Also[edit | edit source]

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Contributors: Prab R. Tumpati, MD