Clinical Genomics

Mission

This group supports the HL7 mission to create and promote its standards by enabling the communication between interested parties of the clinical and personalized genomic data. The focus of clinical genomics work is the personalization (differences in individual's genome) of the genomic data and the linking to relevant clinical information.

This Work Group will facilitate the development of common standards for clinical research information management across a variety of organizations -- including national and international government agencies and regulatory bodies, private research efforts, and sponsored research -- and thus the availability of safe and effective therapies by improving the processes and efficiencies associated with regulated clinical research.

Charter

Work Products and Contributions to HL7 Processes

The Work Group will collect, review, develop and document clinical genomics use cases in order to determine what data needs to be exchanged. The WG will review existing genomics standards formats such as BSML (Bioinformatics Sequence Markup Language), MAGE-ML (Microarray and GeneExpression Markup Language), LSID (Life Science Identifier) and other. This group will recommend enhancements to and/or extensions of HL7's normative standards for exchange of information about clinical genomic orders and observations.

In addition, Clinical Genomics will seek to assure that related or supportive standards produced by other HL7 groups are robust enough to accommodate their use in both research and clincal care use. The group will also monitor information interchange standards developed outside HL7, and attempt harmonization of information content and representation of such standards with the HL7 content and representation.

Formal Relationships With Other HL7 Groups

This Work Group will coordinate with a large number of other Work Groups in order to accomplish its mission. Strongest relationships will be with:

  • Orders and Observations
  • Clinical Statement
  • Clincal Decision Support
  • Regulated Clinical Research Information Management
  • Orders and Observations
  • Patient Care
  • Electronic Health Records
  • Modeling and Methodology
  • Structured Documents

Decision Making Practices

Decision Making Practices (109 KB)

Date of Last Revision

March 2, 2009